Hereditary spastic paraplegia - childhood onset

Gene: GAD1

Amber List (moderate evidence)

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Red gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.

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, 12:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebralpalsy, spasticquadriplegic, 1, 603513
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
None
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to GAD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

13 May 2019, Gel status: 1

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: 1

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: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GAD1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GAD1.

3 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: GAD1 was added gene: GAD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: GAD1 was set to Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513