Hereditary spastic paraplegia - adult onset

Gene: GAD1

Amber List (moderate evidence)

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 7 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Two families currently. Childhood onset. No further patients identified using Sheffield panel.
Created: 10 May 2019, 12:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

Chris Buxton (North Bristol NHS Trust)

I don't know

see current PA review status
Created: 27 Apr 2019, 4:17 p.m.

Phenotypes
Cerebralpalsy,spasticquadriplegic,1, 603513

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Cerebralpalsy, spasticquadriplegic,1, 603513
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1, 603513 to Cerebralpalsy, spasticquadriplegic,1, 603513

13 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GAD1 were set to

13 May 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GAD1.

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GAD1.

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gad1 has been classified as Amber List (Moderate Evidence).

27 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebralpalsy,spasticquadriplegic,1, 603513 for gene: GAD1

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GAD1 was added gene: GAD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: GAD1 was set to