Severe microcephaly

Gene: TAF13

Amber List (moderate evidence)

TAF13 (TATA-box binding protein associated factor 13)
EnsemblGeneIds (GRCh38): ENSG00000197780
EnsemblGeneIds (GRCh37): ENSG00000197780
OMIM: 600774, Gene2Phenotype
TAF13 is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

Reported in two independent consanguineous families, each with two children affected by mild intellectual disability and microcephaly.
15 Aug 2017, 2:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 60 617432

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 60 617432
Tags
watchlist
OMIM
600774
Clinvar variants
Variants in TAF13
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TAF13 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other,Literature

15 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TAF13 was created by ellenmcdonagh