Early onset or syndromic epilepsy
Gene: TAF8
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
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: LiteratureCreated: 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
Phenotypes
severe developmental delay; feeding problems; microcephaly; growth retardation; spasticity; epilepsy
Publications
Tag Q3_22_rating was removed from gene: TAF8.
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)
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