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Early onset or syndromic epilepsy

Gene: TAF8

Green List (high evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Comment on list classification: New gene added by Jana Jezkova. There is sufficient evidence to promote this gene to Green at the next GMS panel update.

TAF8 is associated with a relevant phenotype in OMIM (MIM# 619972) but is not yet listed in G2P.

8 individuals from 5 families have been reported in literature (PMIDs: 29648665; 35759269). Four families from different ethnic backgrounds harboured the same c.781-1G>A homozygous variant while sequencing in a sib pair revealed different compound het splice variants (c.45+4A>G and c.489G>A) in the TAF8 gene. Patients presented with an overlapping phenotype including microcephaly (8/8), DD and ID (8/8), spasticity (7/8), and seizures (6/8). Brain MRI have shown hypoplastic corpus callosum, hypomyelination, enlarged ventricles in most subjects, and additionally generalised brain atrophy in two sibs.
Created: 9 Aug 2022, 3:23 p.m. | Last Modified: 9 Aug 2022, 3:23 p.m.
Panel Version: 3.1656

Jana Jezkova (All Wales Medical Genomics Service)

I don't know

Eight patients reported in total. Six patients are homozygous for a recurrent NM_138572.2, c.781-1G>A variant. In two sibling patients, two novel compound heterozygous TAF8 splice site mutations, c.45+4A > G and c.489G>A were identified, which cause aberrant splicing as well as reduced expression and mislocalization of TAF8.
Sources: Literature
Created: 26 Jul 2022, 9:56 a.m. | Last Modified: 26 Jul 2022, 9:59 a.m.
Panel Version: 3.1632

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

severe developmental delay; feeding problems; microcephaly; growth retardation; spasticity; epilepsy



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Literature
  • Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972
Clinvar variants
Variants in TAF8
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: TAF8.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TAF8. Source NHS GMS was added to TAF8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Aug 2022, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: TAF8 was added gene: TAF8 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Amber Q3_22_rating tags were added to gene: TAF8. Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF8 were set to 29648665; 35759269 Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 Penetrance for gene: TAF8 were set to unknown