Polycystic liver disease interimGene: SEC63
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 12 Mar 2019, 11:27 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC63; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 9:38 a.m.
Comment when marking as ready: SEC63 is a disease causing gene of Polycystic liver disease, which is confirmed in OMIM. A paper has reported 4 different SEC63 variants found in 4 unrelated families (16 affected patients) who have polycystic liver disease.
Created: 26 Nov 2018, 12:44 p.m.
Not aware of exceptions to loss of function
Created: 25 Nov 2018, 9:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Phenotypes for gene: SEC63 were changed from Polycystic Liver Disease 2 with or without kidney cysts (617004) to Polycystic liver disease 2, OMIM:617004
Gene: sec63 has been classified as Green List (High Evidence).
gene: SEC63 was added gene: SEC63 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEC63 were set to 15133510 Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)