Ductal plate malformation
Gene: SEC63
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 givenCreated: 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 functionCreated: 25 Nov 2018, 9:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver
Publications
Mode of pathogenicity
Other
Added phenotypes Polycystic Liver Disease 2 with or without kidney cysts (617004) for gene: SEC63
Source NHS GMS was added to SEC63.
Bill Griffiths: Not aware of exceptions to los
Gene: sec63 has been classified as Green List (High Evidence).
Gene: sec63 has been classified as Green List (High Evidence).
Publications for gene: SEC63 were set to
Mode of inheritance for gene: SEC63 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: SEC63 was added gene: SEC63 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)