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  3. TMEM151A
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Paroxysmal Dyskinesia

Gene: TMEM151A

Green List (high evidence)
TMEM151A (transmembrane protein 151A)
EnsemblGeneIds (GRCh38): ENSG00000179292
EnsemblGeneIds (GRCh37): ENSG00000179292
TMEM151A is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: PMID: 34820915 - 24 heterozygous TMEM151A variants detected in 29 PRRT2-negative patients from 25 families
PMID: 34518509 - TMEM151A variants identified in 3 AD families and 8 isolated PKD patients with incomplete penetrance identified in 3 of the isolated cases. Also, supporting mouse model and in vitro functional assays suggesting loss of function as the mechanism of disease.
Created: 10 Mar 2022, 9:58 a.m. | Last Modified: 10 Mar 2022, 9:58 a.m.
Panel Version: 0.99
Created: 10 Mar 2022, 9:58 a.m.
Last Modified: 10 Mar 2022, 9:58 a.m.
Panel version: 0.99

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 10 Mar 2022, 3:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal Kinesigenic Dyskinesia

Publications

Created: 10 Mar 2022, 3:42 a.m.

Panel version: 0.98

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Paroxysmal Kinesigenic Dyskinesia
  • episodic kinesigenic dyskinesia MONDO:0044202
Clinvar variants
Variants in TMEM151A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: TMEM151A were changed from Paroxysmal Kinesigenic Dyskinesia to Paroxysmal Kinesigenic Dyskinesia; episodic kinesigenic dyskinesia MONDO:0044202

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem151a has been classified as Green List (High Evidence).

10 Mar 2022, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: TMEM151A was added gene: TMEM151A was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM151A were set to 34820915; 34518509 Phenotypes for gene: TMEM151A were set to Paroxysmal Kinesigenic Dyskinesia Review for gene: TMEM151A was set to GREEN