GTF3C1

general transcription factor IIIC subunit 1
OMIM: 603246, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber GTF3C1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.5

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GTF3C1-related

Amber GTF3C1 in Mendeliome


Version 2.516

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GTF3C1-related

Amber GTF3C1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.27

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GTF3C1-related

Amber GTF3C1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.23

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GTF3C1-related

Amber GTF3C1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.125

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GTF3C1-related