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BabyScreen+ newborn screening

Gene: GATM

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Treatable early-childhood onset disorder.
Created: 3 Mar 2023, 9:23 a.m. | Last Modified: 3 Mar 2023, 9:23 a.m.
Panel Version: 0.1882

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 3, MIM#612718

Publications

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

GUARDIAN gene list (not on babyseq or rxgenes)
ID and myopathy, early onset
Rx creatine
Seems like a good fit? I'm not clear from the literature how effective the treatment is. check with JC
Sources: Expert list
Created: 24 Feb 2023, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 3 MIM#612718

Publications

History Filter Activity

3 Mar 2023, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GATM. Tag metabolic tag was added to gene: GATM.

3 Mar 2023, 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).

3 Mar 2023, 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).

24 Feb 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: GATM was added gene: GATM was added to gNBS. Sources: Expert list Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to PMID: 20301745, 34972654 Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718 Review for gene: GATM was set to GREEN