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  3. GAD1
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Cerebral Palsy

Gene: GAD1

Red List (low evidence)
GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.
Created: 4 Dec 2019, 12:40 a.m. | Last Modified: 4 Dec 2019, 12:40 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral palsy, spastic quadriplegic, 1, MIM#603513

Publications

Created: 4 Dec 2019, 12:40 a.m.
Last Modified: 4 Dec 2019, 12:40 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 1, MIM#603513
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gad1 has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513

4 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GAD1 were set to

4 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gad1 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: GAD1 was added gene: GAD1 was added to Cerebral Palsy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GAD1 was set to Unknown