Skeletal dysplasia
Gene: CASR
AR/AD - 239200 & 145980 listed in abnormal mineralization gp of SD. Several 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
Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalciuric hypercalcemia, type I 145980
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: CASR; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Numerous variants reported in these phenotypesCreated: 13 Jul 2016, 7:53 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:31 p.m.
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalciuric hypercalcemia, type I 145980
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hypocalcemia, autosomal dominant 601198; Hypocalciuric hypercalcemia, type I 145980; Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 for gene: CASR
Source NHS GMS was added to CASR. 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 CASR were set to Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalciuric hypercalcemia, type I 145980
Mode of inheritance for CASR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CASR was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory CASR was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
CASR was created by sleigh
CASR was added to Unexplained skeletal dysplasiapanel. Sources: