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Intellectual disability - microarray and sequencing v3.1511 GAD1 Arina Puzriakova Tag for-review was removed from gene: GAD1.
Intellectual disability - microarray and sequencing v3.1510 GAD1 Sarah Leigh commented on gene: GAD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1509 GAD1 Arina Puzriakova Source Expert Review Green was added to GAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.477 GAD1 Arina Puzriakova Classified gene: GAD1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.477 GAD1 Arina Puzriakova Added comment: 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).
Intellectual disability - microarray and sequencing v3.477 GAD1 Arina Puzriakova Gene: gad1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.476 GAD1 Arina Puzriakova Tag for-review tag was added to gene: GAD1.
Intellectual disability - microarray and sequencing v3.29 GAD1 Sarah Leigh Phenotypes for gene: GAD1 were changed from ?Cerebral palsy, spastic quadriplegic, 1; Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele to ?Cerebral palsy, spastic quadriplegic, 1 603513; Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
Intellectual disability - microarray and sequencing v3.28 GAD1 Sarah Leigh Publications for gene: GAD1 were set to 26503795; 24896178; 26350204; https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085
Intellectual disability - microarray and sequencing v3.27 GAD1 Sarah Leigh Added comment: Comment on publications: https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085 new publication, without a PMID
Intellectual disability - microarray and sequencing v3.27 GAD1 Sarah Leigh Publications for gene: GAD1 were set to 26503795; 24896178; 26350204; https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085
Intellectual disability - microarray and sequencing v3.27 GAD1 Sarah Leigh Added comment: Comment on publications: https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085 new publication, without a PMID
Intellectual disability - microarray and sequencing v3.27 GAD1 Sarah Leigh Publications for gene: GAD1 were set to
Intellectual disability - microarray and sequencing v3.26 GAD1 Sarah Leigh Phenotypes for gene: GAD1 were changed from ?Cerebral palsy, spastic quadriplegic, 1 to ?Cerebral palsy, spastic quadriplegic, 1; Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
Intellectual disability - microarray and sequencing v3.25 GAD1 Sarah Leigh Classified gene: GAD1 as Green List (high evidence)
Intellectual disability - microarray and sequencing v3.25 GAD1 Sarah Leigh Added comment: 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
Intellectual disability - microarray and sequencing v3.25 GAD1 Sarah Leigh Gene: gad1 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing GAD1 BRIDGE consortium edited their review of GAD1
Intellectual disability - microarray and sequencing GAD1 BRIDGE consortium edited their review of GAD1
Intellectual disability - microarray and sequencing GAD1 BRIDGE consortium reviewed GAD1