ATR gene related symptoms and diseases
All the information presented here about the ATR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Convex nasal ridge | Very Common - Between 80% and 100% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Narrow face | Common - Between 50% and 80% cases |
| Microcephaly | Common - Between 50% and 80% cases |
| Scoliosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ATR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Micrognathia
- Intrauterine growth retardation
- Downslanted palpebral fissures
- Delayed skeletal maturation
- Clinodactyly of the 5th finger
- Hypoplasia of dental enamel
- Sandal gap
- Short stature
And 98 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATR gene
Here you will find a list of rare diseases related to the ATR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SECKEL SYNDROME
Description
Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
Most common symptoms of SECKEL SYNDROME
- Intellectual disability
- Short stature
- Microcephaly
- Scoliosis
- Micrognathia
More info about SECKEL SYNDROME
SOURCES: ORPHANET
SECKEL SYNDROME 1; SCKL1
Alternate names
SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism, nanocephalic dwarfism, sckl, microcephalic primordial dwarfism i, seckel-type dwarfism
Description
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997).
Most common symptoms of SECKEL SYNDROME 1; SCKL1
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Scoliosis
More info about SECKEL SYNDROME 1; SCKL1
SOURCES: OMIM
FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME
Alternate names
FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME Is also known as telangiectasia, cutaneous, and cancer syndrome, familial
Description
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.
Most common symptoms of FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME
- Neoplasm
- Alopecia
- Carcinoma
- Carious teeth
- Convex nasal ridge
More info about FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME
Search interest in ATR
Potential gene panels for ATR gene
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Microcephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Microcephaly that also includes the following genes: STIL SLC9A6 CDKL5 TCF4 UBE3A RAB18 SLC25A19 ZEB2 CASK PCNT
More info about this panel United States.
ATR sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the ATR gene.
More info about this panel United States.
Seckel Syndrome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Seckel Syndrome Panel that also includes the following genes: NIN PCNT CENPJ CEP63 CEP152 DNA2 TRAIP LIG4 ATR RBBP8
More info about this panel United States.
Comprehensive Primordial Dwarfism Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2
More info about this panel United States.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
ATR. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATR gene.
More info about this panel Spain.
Seckel syndrome 1 (sequence analysis of ATR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ATR gene.
More info about this panel Portugal.
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
Portugal.
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Portugal.
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via ATR Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ATR gene.
More info about this panel United States.
Microcephalic primordial dwarfism Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism NGS panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Seckel Syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Seckel Syndrome that also includes the following genes: NIN CENPJ CDK5RAP2 CEP152 DNA2 ATRIP ATR RBBP8
More info about this panel Germany.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Seckel Syndrome Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the ATR gene.
More info about this panel India.
Seckel syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATR gene.
More info about this panel Germany.
Cancer Hotspot Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Familial Tumor Syndromes Panel Panel
Germany.
By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Selected Genetic Syndromes with skeletal involvement Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel Germany.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
Seckel Syndrome 1 Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the ATR gene.
More info about this panel Germany.
Seckel syndrome: ATR gene mutation analysis (A2101G, G4066T, 2320delA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATR gene.
More info about this panel Spain.
Seckel syndrome: ATR gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATR gene.
More info about this panel Spain.
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
More info about this panel Spain.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Hereditary Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel United States.
Primordial Dwarfism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Primordial Dwarfism NGS Panel that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4
More info about this panel United States.
ATR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATR gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Comprehensive Cancer Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Fanconi Anemia Panel Panel
Finland.
By Blueprint Genetics Fanconi Anemia Panel that also includes the following genes: BLM BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI CXCR4 PALB2
More info about this panel Finland.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Seckel Syndrome Panel Panel
Finland.
By Blueprint Genetics Seckel Syndrome Panel that also includes the following genes: PCNT CENPJ CEP63 CEP152 ATR RBBP8
More info about this panel Finland.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Limb Malformations Panel Panel
Finland.
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Seckel syndrome Panel
Spain.
By Bioarray
This panel specifically test the ATR gene.
More info about this panel Spain.
Seckel Syndrome NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Seckel Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: CENPJ CEP63 CEP152 ATR RBBP8
More info about this panel United States.
ATR Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ATR gene.
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
Hereditary Cancer Comprehensive Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
SYNDROME DE SECKEL: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SYNDROME DE SECKEL: NGS PANEL that also includes the following genes: PLK4 NIN PCNT CENPJ CENPE CEP63 CEP152 ATRIP ATR RBBP8
More info about this panel Spain.
SECKEL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL SECKEL SYNDROME that also includes the following genes: PCNT CENPJ CEP63 CEP152 ATRIP ATR RBBP8
More info about this panel Spain.
BREAST AND OVARIAN CANCER NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B
More info about this panel Spain.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Seckel Syndrome, Mutations (A2101G, G4066T, 2320delA) ATR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ATR gene.
More info about this panel Spain.
Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes Panel
Spain.
By Reference Laboratory Genetics Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes that also includes the following genes: MRE11 ATM ATR
More info about this panel Spain.
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CENPJ CEP63 CEP152 ATR RBBP8
More info about this panel Spain.
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4
More info about this panel Spain.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel that also includes the following genes: STIL NIN CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135
More info about this panel Canada.
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