Rare genetic inflammatory skin disorders
Gene: SH3PXD2B
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRANK-TER HAAR SYNDROME; FTHS
Publications
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SH3PXD2B; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Phenotypes for gene: SH3PXD2B were changed from Borrone dermato-cardio-skeletal syndrome; FTHS; FRANK-TER HAAR SYNDROME to FRANK-TER HAAR SYNDROME, OMIM:249420
Added phenotypes FTHS; FRANK-TER HAAR SYNDROME for gene: SH3PXD2B Publications for gene SH3PXD2B were changed from to 20137777
Source London North GLH was added to SH3PXD2B.
gene: SH3PXD2B was added gene: SH3PXD2B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to Borrone dermato-cardio-skeletal syndrome