Calcium and Phosphate disorders

Gene: GATM

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

• PMID: 29654216

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

• 11555793
• 27604308

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

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. 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

• 12468279
• 20682460
• 22386973
• 29654216