Vascular skin disordersGene: KRIT1
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: KRIT1; 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, 12:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS, 116860 to CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860
Publications for gene: KRIT1 were set to
Source London North GLH was added to KRIT1.
gene: KRIT1 was added gene: KRIT1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS, 116860