ERCC1 gene related symptoms and diseases
All the information presented here about the ERCC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ERCC1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Microphthalmia | Common - Between 50% and 80% cases |
| Microcephaly | Common - Between 50% and 80% cases |
| Intrauterine growth retardation | Common - Between 50% and 80% cases |
| Hypertonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ERCC1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cutaneous photosensitivity
- Global developmental delay
- Deeply set eye
- Arthrogryposis multiplex congenita
- Nystagmus
- Camptodactyly of finger
- Prominent nasal bridge
- Seizures
And 130 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ERCC1 gene
Here you will find a list of rare diseases related to the ERCC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COFS SYNDROME
Alternate names
COFS SYNDROME Is also known as cerebrooculofacioskeletal syndrome, pena-shokeir syndrome type 2
Description
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Most common symptoms of COFS SYNDROME
- Seizures
- Short stature
- Microcephaly
- Micrognathia
- Sensorineural hearing impairment
More info about COFS SYNDROME
SOURCES: ORPHANET
COCKAYNE SYNDROME TYPE 2
Alternate names
COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii
Description
Caused by mutations of gene ERCC6.
Most common symptoms of COCKAYNE SYNDROME TYPE 2
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COCKAYNE SYNDROME TYPE 2
CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
Description
Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013).For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.
Most common symptoms of CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
- Nystagmus
More info about CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
SHORT STATURE-DELAYED BONE AGE DUE TO THYROID HORMONE METABOLISM DEFICIENCY
Description
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Most common symptoms of SHORT STATURE-DELAYED BONE AGE DUE TO THYROID HORMONE METABOLISM DEFICIENCY
- Short stature
- Growth delay
- Delayed skeletal maturation
- Increased thyroid-stimulating hormone level
- Abnormality of thyroid physiology
More info about SHORT STATURE-DELAYED BONE AGE DUE TO THYROID HORMONE METABOLISM DEFICIENCY
Search interest in ERCC1
Potential gene panels for ERCC1 gene
Cerebrooculofacioskeletal syndrome 4 (sequence analysis of ERCC1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ERCC1 gene.
More info about this panel Portugal.
Xeroderma Pigmentosum Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Xeroderma Pigmentosum Sequencing Panel with CNV Detection that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Xeroderma pigmentosum Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Xeroderma pigmentosum Comprehensive panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Xeroderma pigmentosum NGS panel Panel
United States.
By Connective Tissue Gene Tests Xeroderma pigmentosum NGS panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Xeroderma pigmentosum Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Xeroderma pigmentosum Deletion / Duplication panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
Cerebrooculofacioskeletal syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome Comprehensive panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6
More info about this panel United States.
Cerebrooculofacioskeletal syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome NGS panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6
More info about this panel United States.
Cerebrooculofacioskeletal syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Cerebrooculofacioskeletal syndrome Deletion / Duplication panel that also includes the following genes: ERCC1 ERCC2 ERCC5 ERCC6
More info about this panel United States.
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.
Cataract Panel
Germany.
By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Cerebrooculofacioskeletal syndrome, type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC1 gene.
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.
Single gene testing ERCC1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ERCC1 gene.
More info about this panel Germany.
Xeroderma Pigmentosum NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel United States.
ERCC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERCC1 gene.
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Xeroderma Pigmentosum Panel Panel
Finland.
By Blueprint Genetics Xeroderma Pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Finland.
ERCC1 expression Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc.
This panel specifically test the ERCC1 gene.
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.
XERODERMA PIGMENTOSUM Panel
Spain.
By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Spain.
COCKAYNE SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL COCKAYNE SYNDROME that also includes the following genes: ERCC1 ERCC4 ERCC6 ERCC8
More info about this panel Spain.
XERODERMA PIGMENTOSUM NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM NGS PANEL that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Spain.
Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
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.
Xeroderma Pigmentosum: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Xeroderma Pigmentosum: gene sequencing panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH
More info about this panel Canada.
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