Ciliopathies
Gene: TMEM231EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 3 unrelated families reported with each phenotype, functional data.Created: 27 Mar 2021, 2:40 a.m. | Last Modified: 27 Mar 2021, 2:40 a.m.
Panel Version: 0.266
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Joubert syndrome 20, MIM# 614970
- MONDO:0013994
- Meckel syndrome 11, MIM# 615397
- MONDO:0014164
- OMIM
- 614949
- Clinvar variants
- Variants in TMEM231
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Renal Ciliopathies and Nephronophthisis
- Syndromic Retinopathy
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem231 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TMEM231 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TMEM231 was added gene: TMEM231 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM231 was set to Unknown