Regression
Gene: GATMEnsemblGeneIds (GRCh38): ENSG00000171766
EnsemblGeneIds (GRCh37): ENSG00000171766
OMIM: 602360, Gene2Phenotype
GATM is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 7:35 a.m. | Last Modified: 13 Jun 2020, 7:35 a.m.
Panel Version: 0.118
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral creatine deficiency syndrome 3, MIM# 612718
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cerebral creatine deficiency syndrome 3, MIM# 612718
- OMIM
- 602360
- Clinvar variants
- Variants in GATM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mendeliome
- BabyScreen+ newborn screening
- Renal Tubulopathies and related disorders
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Autism
- Regression
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Calcium and Phosphate disorders
- Fetal anomalies
- Prepair 1000+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gatm has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GATM were set to
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
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 Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GATM was set to Unknown