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Prepair 1000+

Gene: TMEM231

Green List (high evidence)

TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 14 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Both phenotypes fall under ciliopathy (MONDO:0005308). Prenatal / at birth onset.
Created: 5 Mar 2025, 6:43 a.m. | Last Modified: 5 Mar 2025, 6:43 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 20, 614970, (3); Meckel syndrome 11, 615397 (3)

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome 20, 614970 (3) for gene: TMEM231

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM231 was added gene: TMEM231 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)