Severe microcephaly
Gene: TRAIP
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Comment on list classification: Expert list. Probable DD on G2PCreated: 12 Jan 2017, 10:03 a.m.
Expert list. Mutations in at least two familiesCreated: 12 Jan 2017, 10:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 9 616777
Publications
Phenotypes for gene: TRAIP were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 9, 616777; Microcephaly to Seckel syndrome 9, OMIM:616777; Microcephalic primordial dwarfism
Source NHS GMS was added to TRAIP.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
This gene has been classified as Green List (High Evidence).
Publications for TRAIP were set to 26595769
This gene has been classified as Green List (High Evidence).
TRAIP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
TRAIP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
TRAIP was created by rfoulger