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  3. TMEM231
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Ataxia - paediatric

Gene: TMEM231

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families described with the Joubert phenotype, severely affected, not ambulant.
Created: 16 Apr 2020, 7:54 a.m. | Last Modified: 16 Apr 2020, 7:54 a.m.
Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 20, MIM# 614970; Meckel syndrome 11 615397

Created: 16 Apr 2020, 7:54 a.m.
Last Modified: 16 Apr 2020, 7:54 a.m.
Panel version: 0.68

History Filter Activity

16 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem231 has been classified as Amber List (Moderate Evidence).

16 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 to Joubert syndrome 20, MIM# 614970; Meckel syndrome 11 615397

16 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem231 has been classified as Amber List (Moderate Evidence).

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM231 was added gene: TMEM231 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Joubert syndrome 20