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  3. GATM
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Early onset or syndromic epilepsy

Gene: GATM

Red List (low evidence)
GATM (glycine amidinotransferase)
EnsemblGeneIds (GRCh38): ENSG00000171766
EnsemblGeneIds (GRCh37): ENSG00000171766
OMIM: 602360, Gene2Phenotype
GATM is in 11 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
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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Deb Pal (King's College London)

Red List (low evidence)

Publications

Created: 12 Feb 2019, 2:57 p.m.

Panel version: 1.13

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

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.
Created: 1 Jul 2015, 3:16 p.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert
  • Expert Review Red
Phenotypes
  • Cerebral creatine deficiency syndrome 3, OMIM:612718
OMIM
602360
Clinvar variants
Variants in GATM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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