Skeletal dysplasia
Gene: CLCN7
Listed in Osteopetrosis and related disorders SD gp. AD/AR. At least 2 recessive cases and >3 dominant cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal dominant 2 166600; Osteopetrosis, autosomal recessive 4 611490
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CLCN7; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:27 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Four variants reported in Osteopetrosis, autosomal recessive 4 611490 and two variants reported in Osteopetrosis, autosomal dominant 2 166600.Created: 13 Jul 2016, 8:10 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:34 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal dominant 2 166600; Osteopetrosis, autosomal recessive 4 611490
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Added phenotypes Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 for gene: CLCN7
Source NHS GMS was added to CLCN7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CLCN7 were set to Osteopetrosis, autosomal dominant 2 166600; Osteopetrosis, autosomal recessive 4 611490
Mode of inheritance for CLCN7 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CLCN7 was created by sleigh
CLCN7 was added to Unexplained skeletal dysplasiapanel. Sources: