TGIF1 gene related symptoms and diseases

All the information presented here about the TGIF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TGIF1 gene

Symptoms // Phenotype % Cases
Ptosis Rare - less than 30% cases
Depressed nasal bridge Rare - less than 30% cases
Hypotelorism Rare - less than 30% cases
Median cleft lip Rare - less than 30% cases
Depressed nasal tip Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with TGIF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Median cleft lip and palate
  • Semilobar holoprosencephaly
  • Absent nasal septal cartilage
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to TGIF1 gene

Here you will find a list of rare diseases related to the TGIF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HOLOPROSENCEPHALY 4; HPE4


Description

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Most common symptoms of HOLOPROSENCEPHALY 4; HPE4

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


More info about HOLOPROSENCEPHALY 4; HPE4

SOURCES: OMIM MESH

SEMILOBAR HOLOPROSENCEPHALY


Description

Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


More info about SEMILOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

SEPTOPREOPTIC HOLOPROSENCEPHALY


Alternate names

SEPTOPREOPTIC HOLOPROSENCEPHALY Is also known as septopreoptic hpe

Description

Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.


More info about SEPTOPREOPTIC HOLOPROSENCEPHALY

SOURCES: ORPHANET

LOBAR HOLOPROSENCEPHALY


Description

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


More info about LOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

ALOBAR HOLOPROSENCEPHALY


Description

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.


More info about ALOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY


Alternate names

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY Is also known as mihf, mihv, middle interhemispheric variant of holoprosencephaly, mih, mih type hpe, syntelencephaly, middle interhemispheric fusion variant

Description

Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.


More info about MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY

SOURCES: ORPHANET


Potential gene panels for TGIF1 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

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

Holoprosencephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Holoprosencephaly that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel

Holoprosencephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Holoprosencephaly Sequencing Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1

More info about this panel

Holoprosencephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Holoprosencephaly Deletion/Duplication Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1

More info about this panel

Holoprosencephaly Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel

Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel

TGIF. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TGIF1 gene.

More info about this panel

TGIF1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TGIF1 gene.

More info about this panel

Holoprosencephaly (deletions/ duplications on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes) Panel

Portugal.

By CGC Genetics Holoprosencephaly (deletions/ duplications on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes) that also includes the following genes: SHH SIX3 TGIF1 TRAPPC10 ZIC2 FBXW11 PTCH1

More info about this panel

Holoprosencephaly 4 (sequence analysis of TGIF1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TGIF1 gene.

More info about this panel

Holoprosencephaly (NGS panel for 9 genes) Panel

Portugal.

By CGC Genetics Holoprosencephaly (NGS panel for 9 genes) that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1

More info about this panel

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel

Holoprosencephaly-4 (Autosomal Dominant, Nonsyndromic) via TGIF1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TGIF1 gene.

More info about this panel

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

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

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

Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel Panel

United States.

By FirmaLab Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 GLI1 PTCH1

More info about this panel

Holoprosencephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Holoprosencephaly panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1

More info about this panel

Holoprosencephaly 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TGIF1 gene.

More info about this panel

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

Holoprosencephaly Panel Panel

Germany.

By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1

More info about this panel

Holoprosencephaly Panel Panel

Germany.

By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1

More info about this panel

Single gene testing TGIF1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the TGIF1 gene.

More info about this panel

TGIF1-Related Holoprosencephaly Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the TGIF1 gene.

More info about this panel

Holoprosencephaly 4 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TGIF1 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Holoprosencephaly 4 Panel

Slovakia.

By MedGene

This panel specifically test the TGIF1 gene.

More info about this panel

Invitae Holoprosencephaly Panel Panel

United States.

By Invitae Invitae Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 GLI2

More info about this panel

Holoprosencephaly 4: TGIF gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TGIF1 gene.

More info about this panel

HOLOPROSENCEPHALY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HOLOPROSENCEPHALY that also includes the following genes: SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL

More info about this panel

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

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

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Holoproscencephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Holoproscencephaly NGS Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1

More info about this panel

TGIF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TGIF1 gene.

More info about this panel

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

Holoprosencephaly Panel Panel

Finland.

By Blueprint Genetics Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 FOXH1 GLI2 GLI3

More info about this panel

Holoprosencephaly type 4 Panel

Spain.

By Bioarray

This panel specifically test the TGIF1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

HOLOPROSENCEPHALY Panel

Spain.

By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY that also includes the following genes: SHH SIX3 TGIF1 ZIC2 FOXH1

More info about this panel

HOLOPROSENCEPHALY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY NGS PANEL that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1

More info about this panel

Holoprosencephaly Type 4 , Sequencing TGIF1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TGIF1 gene.

More info about this panel

Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 NODAL PTCH1

More info about this panel

Holoprosencephaly: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Holoprosencephaly: gene sequencing panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XPR1 PEX1 MGAT2 KNL1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more