Renal Tubulopathies and related disorders

Gene: GATM

Green List (high evidence)

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

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

28 individuals from five unrelated families with renal phenotype and mono-allelic variants reported. Can show hypophosphatemic rickets, phosphaturia, and hypophosphatemia
Sources: Expert list
Created: 28 Nov 2022, 9:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fanconi renotubular syndrome 1, MIM# 134600

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). L-arginine:glycine amidinotransferase (AGAT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism.
Sources: NHS GMS
Created: 8 Feb 2021, 6:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 3 MIM#612718

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

28 individuals from five unrelated families with renal phenotype and mono-allelic variants reported. Note bi-allelic variants cause cerebral creatine deficiency syndrome.
Created: 13 Jun 2020, 7:21 a.m. | Last Modified: 13 Jun 2020, 7:40 a.m.
Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fanconi renotubular syndrome 1, MIM# 134600

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Fanconi renotubular syndrome 1, MIM# 134600
OMIM
602360
Clinvar variants
Variants in GATM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATM was added gene: GATM was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATM were set to 29654216 Phenotypes for gene: GATM were set to Fanconi renotubular syndrome 1, MIM# 134600