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  3. GNAL
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Regression

Gene: GNAL

Red List (low evidence)
GNAL (G protein subunit alpha L)
EnsemblGeneIds (GRCh38): ENSG00000141404
EnsemblGeneIds (GRCh37): ENSG00000141404
OMIM: 139312, Gene2Phenotype
GNAL is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not a neurodevelopmental regression phenotype. Isolated dystonia, which is generally of adult onset.
Created: 28 Apr 2021, 11:38 p.m. | Last Modified: 28 Apr 2021, 11:38 p.m.
Panel Version: 0.302

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 25, MIM# 615073; MONDO:0014033

Publications

Created: 28 Apr 2021, 11:38 p.m.
Last Modified: 28 Apr 2021, 11:38 p.m.
Panel version: 0.302

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia 25, MIM# 615073
  • MONDO:0014033
OMIM
139312
Clinvar variants
Variants in GNAL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnal has been classified as Red List (Low Evidence).

28 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAL were changed from to Dystonia 25, MIM# 615073; MONDO:0014033

28 Apr 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNAL were set to

28 Apr 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnal has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAL was added gene: GNAL was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAL was set to Unknown