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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. GNAL
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: GNAL

Green List (high evidence)
GNAL (G protein subunit alpha L)
EnsemblGeneIds (GRCh38): ENSG00000141404
EnsemblGeneIds (GRCh37): ENSG00000141404
OMIM: 139312, Gene2Phenotype
GNAL is in 6 panels

1 review

Emily Jones (North Bristol NHS Trust)

Green List (high evidence)

PMID 23222958 describes age of onset from 7-54 years, with average age of onset 31.3 yrs. PMID 23449625 suggests there may be incomplete penetrance.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Dystonia 25, 615073
OMIM
139312
Clinvar variants
Variants in GNAL
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GNAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia 25, 615073 for gene: GNAL

2 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GNAL. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GNAL was added gene: GNAL was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: GNAL was set to