Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: GATM

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants cause a disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. At least four unrelated families reported.
Created: 13 Jun 2020, 7:27 a.m. | Last Modified: 13 Jun 2020, 7:27 a.m.
Panel Version: 0.2688

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 3, MIM# 612718

Publications

History Filter Activity

13 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gatm has been classified as Green List (High Evidence).

13 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GATM were set to

13 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATM was added gene: GATM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GATM was set to Unknown