Cholestasis
Gene: NR1H4
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, 10:40 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: NR1H4; 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: 7 Jan 2019, 4:42 p.m.
Comment on phenotypes: added phenotypes from expert reviewCreated: 25 Jul 2018, 2:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, progressive familial intrahepatic cholestasis; modifier of other genetic cholestatic conditions; ciliopathy
very few reported pathogenic variants; we have not found any patients with 2 NR1H4 variants (cohort of 150 patients)Created: 4 Jun 2018, 11:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cholestasis
Variants in this GENE are reported as part of current diagnostic practice
Gene: nr1h4 has been classified as Green List (High Evidence).
Source Other was added to NR1H4. Mode of inheritance for gene NR1H4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ciliopathy; modifier of other genetic cholestatic conditions; Cholestasis, Progressive Familial Intrahepatic 5; Cholestasis, progressive familial intrahepatic 5, 617049; Neonatal and Adult Cholestasis for gene: NR1H4
Source Expert Review Green was added to NR1H4. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NR1H4 was added gene: NR1H4 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: NR1H4 was set to