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Intellectual disability
Gene: GAD1

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 9 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:50 p.m. | Last Modified: 20 Oct 2020, 3:50 p.m.

Panel Version: 3.477

Created: 20 Oct 2020, 3:50 p.m.
Last Modified: 20 Oct 2020, 3:50 p.m.
Panel version: 3.477

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Comment on publications: https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085 new publication, without a PMID
Created: 14 Apr 2020, 10:26 a.m. | Last Modified: 14 Apr 2020, 10:26 a.m.

Panel Version: 3.27

Comment on publications: https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085 new publication, without a PMID
Created: 14 Apr 2020, 10:25 a.m. | Last Modified: 14 Apr 2020, 10:25 a.m.

Panel Version: 3.27

Comment on list classification: Five biallelic loss of function variants reported in 11 cases in 6 unrelated families. All cases had epilepsy syndrome, 10 profound intellectual disabilty (1 case died at day 9 of life) and other nuerological and developement features. Supportive functional studies were also presented
Created: 14 Apr 2020, 10:23 a.m. | Last Modified: 14 Apr 2020, 10:23 a.m.

Panel Version: 3.25

Associated with phenotype in OMIM and as a possible G2P association. At least 1 variant reported in 4 affected siblings of a consanguineous family.
Reported as associated with an ID phenotype in PMID 26503795 and as a candidate gene in PMIDs 24896178 and 26350204
Created: 1 Mar 2018, 4:46 p.m.

Created: 1 Mar 2018, 4:46 p.m.

Panel version: 3.1510

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 (CPSQ1)

Publications

15571623

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : All missense/in frame
Created: 27 Jul 2017, 6:03 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; find_uk10k; gilissen_2014_candidate; omim_20150205_movement; sfari_20150206; manju_list; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; All missense/in frame. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
omim.org
Personal communication with NIHRBRRD BRIDGE SPEED

Mode of pathogenicity
Other

Created: 2 Aug 2017, 6:09 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:02 a.m.

Panel version: 0.306

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

?Cerebral palsy, spastic quadriplegic, 1 603513
Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

OMIM

605363

Clinvar variants

Variants in GAD1

Penetrance

Complete

Publications

15571623
26503795
24896178
26350204
https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085

Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GAD1.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: GAD1.

14 Apr 2020, Gel status: 3