Arthrogryposis
Gene: ERBB3
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for Lethal congenital contractural syndrome 2 OMIM:607598 and as a confirmed gene for Hirschprung disease with intestinal pseudo-obstruction. At least 7 variants reported in at least 4 unrelated cases.Created: 28 Apr 2021, 1:57 p.m. | Last Modified: 28 Apr 2021, 1:57 p.m.
Panel Version: 3.98
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 28 Apr 2021, 1:54 p.m. | Last Modified: 28 Apr 2021, 1:54 p.m.
Panel Version: 3.98
Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported.
All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis.
Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors.
Report further substantiates association with arthrogryposis and expands the phenotype associated with bi-allelic variants in this gene. We have added to our Hirschsprung disease panel as well.Created: 19 Apr 2021, 8:42 a.m. | Last Modified: 19 Apr 2021, 8:42 a.m.
Panel Version: 3.91
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hirschsprung disease; arthrogryposis
Publications
Comment on list classification: A single variant reported in two Israeli-Bedouin kindreds. Not currently enough evidence at this time to include this gene as green.
Created: 13 Jan 2017, 3:13 p.m.
Only identified in two families. Possible disease gene on G2PCreated: 21 Dec 2016, 3:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contractural syndrome 2 607598
Publications
Tag Q2_21_rating was removed from gene: ERBB3.
Source Expert Review Green was added to ERBB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: ERBB3.
Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Publications for gene: ERBB3 were set to 17701904; 12519750
Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2 607598 to ?Lethal congenital contractural syndrome 2 OMIM:607598; lethal congenital contracture syndrome 2 MONDO:0011868
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Amber List (Moderate Evidence).
Publications for ERBB3 were set to 17701904; 12519750
This gene has been classified as Amber List (Moderate Evidence).
Publications for ERBB3 were set to 17701904
Phenotypes for ERBB3 were set to Lethal congenital contractural syndrome 2 607598
Mode of inheritance for ERBB3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
ERBB3 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen
ERBB3 was created by ellenmcdonagh
ERBB3 was added to Arthrogryposispanel. Sources: Expert list