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: 31 Jan 2019, 10:36 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: DCDC2; 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: 7 Jan 2019, 4:42 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:28 p.m.
Comment on list classification: More than 3 unrelated cases reported for homozygous variants in this gene in patients with neonatal sclerosis cholangitis, of which cholestasis is a feature (see publications). Green expert review and is on the VCGS panel and King's Liver Centre panel. Associated with Sclerosing cholangitis, neonatal in OMIM and is a Probable gene in Gene2Phenotype for RENAL-HEPATIC CILIOPATHY.
Created: 25 Jul 2018, 12:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
neonatal sclerosis cholangitis; PFIC type 5
Gene: dcdc2 has been classified as Green List (High Evidence).
Source Other was added to DCDC2. Mode of inheritance for gene DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sclerosing cholangitis, neonatal, 617394; PFIC type 5; Neonatal sclerosis cholangitis; Neonatal and Adult Cholestasis for gene: DCDC2 Publications for gene DCDC2 were changed from to 25557784; 27319779; 27469900
Source Expert Review Green was added to DCDC2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DCDC2 was added gene: DCDC2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: DCDC2 was set to