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Genetic epilepsy syndromes

Gene: GATM

Red List (low evidence)

GATM (glycine amidinotransferase)
EnsemblGeneIds (GRCh38): ENSG00000171766
EnsemblGeneIds (GRCh37): ENSG00000171766
OMIM: 602360, Gene2Phenotype
GATM is in 14 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Perhaps test via an alternative pathway. AR cerebral creatine defic syndrome 3 - on OMIM no mention of associated epilepsy/seizure phenotype.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 3, 612718

Publications

Deb Pal (King's College London)

Red List (low evidence)

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

"AGAT" was submitted by an expert, which is most likely to be this HGNC-approved symbol.
Created: 1 Jul 2015, 3:16 p.m.

History Filter Activity

15 Aug 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: GATM were changed from to Cerebral creatine deficiency syndrome 3, 612718

15 Aug 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

15 Aug 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: GATM were set to

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GATM.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GATM.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: "AGAT" was submitted by an exp

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GATM was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GATM was created by Sarah Leigh