Microcephaly
Gene: TAF8

TAF8 (TATA-box binding protein associated factor 8)
EnsemblGeneIds (GRCh38): ENSG00000137413
EnsemblGeneIds (GRCh37): ENSG00000137413
OMIM: 609514, Gene2Phenotype
TAF8 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. Unclear if this is a founder variant, families of different ethnicities. One family with different compound heterozygous variants.
Sources: Literature
Created: 14 Jul 2022, 12:23 a.m. | Last Modified: 14 Jul 2022, 12:26 a.m.

Panel Version: 1.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972

Publications

Created: 14 Jul 2022, 12:23 a.m.
Last Modified: 14 Jul 2022, 12:26 a.m.
Panel version: 1.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972

OMIM

609514

Clinvar variants

Variants in TAF8

Penetrance

None

Publications

Panels with this gene