Calcium and Phosphate disorders
Gene: GATM
28 individuals from five unrelated families with renal phenotype and mono-allelic variants reported. Can show hypophosphatemic rickets, phosphaturia, and hypophosphatemia
Sources: Expert listCreated: 28 Nov 2022, 9:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 1, MIM# 134600
Publications
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 GMSCreated: 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
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. 28 individuals from five unrelated families with renal phenotype and mono-allelic variants reported.Created: 13 Jun 2020, 7:42 a.m. | Last Modified: 13 Jun 2020, 7:42 a.m.
Panel Version: 0.3051
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebral creatine deficiency syndrome 3, MIM# 612718; Fanconi renotubular syndrome 1, MIM# 134600
Publications
Gene: gatm has been classified as Green List (High Evidence).
gene: GATM was added gene: GATM was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATM were set to PMID: 29654216 Phenotypes for gene: GATM were set to Fanconi renotubular syndrome 1, MIM# 134600 Review for gene: GATM was set to GREEN