Severe microcephalyGene: TAF13
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Reported in two independent consanguineous families, each with two children affected by mild intellectual disability and microcephaly.
Created: 15 Aug 2017, 2:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mental retardation, autosomal recessive 60 617432
Source NHS GMS was added to TAF13.
This gene has been classified as Amber List (Moderate Evidence).
TAF13 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other,Literature
TAF13 was created by ellenmcdonagh