Skeletal dysplasia
Gene: TMEM231
green - many variants, polydactyly reasonably prevalent. not in Bonafe et al (2015) AJMG 167A:28692892. Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20 614970; Meckel syndrome 11 615397
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: TMEM231; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM. At least six variants reported between these two related phenotypesCreated: 1 Aug 2016, 9:28 a.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20 614970; Meckel syndrome 11 615397
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Joubert syndrome 20 614970; Meckel syndrome 11 615397 for gene: TMEM231
Source NHS GMS was added to TMEM231. 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).
TMEM231 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for TMEM231 were set to Joubert syndrome 20 614970; Meckel syndrome 11 615397
Mode of inheritance for TMEM231 was changed to BIALLELIC, autosomal or pseudoautosomal
TMEM231 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
TMEM231 was created by sleigh
TMEM231 was added to Unexplained skeletal dysplasiapanel. Sources: