GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TMEM231

TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 20 614970; Meckel syndrome 11 615397

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Joubert syndrome 20 614970
Meckel syndrome 11 615397

OMIM

614949

Clinvar variants

Variants in TMEM231

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TMEM231 was added gene: TMEM231 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 614970; Meckel syndrome 11 615397

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: TMEM231