Liver Failure_Paediatric
Gene: MTM1EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Reports of liver failure in individuals with MTM1-related myopathy following gene therapy. Hepatobiliary disease is an emerging feature of the condition.Created: 5 Oct 2023, 2:02 a.m. | Last Modified: 5 Oct 2023, 2:02 a.m.
Panel Version: 1.20
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myopathy, centronuclear, X-linked, MIM# 310400
Rylee Peters (Victorian Clinical Genetics Services)
Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters.
Sources: LiteratureCreated: 5 Oct 2023, 1:48 a.m. | Last Modified: 5 Oct 2023, 1:55 a.m.
Panel Version: 1.20
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myopathy, centronuclear, X-linked, MIM# 310400
Publications
- PMID: 37490339
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Myopathy, centronuclear, X-linked, MIM# 310400
- OMIM
- 300415
- Clinvar variants
- Variants in MTM1
- Penetrance
- None
- Publications
-
- PMID: 37490339
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Liver Failure_Paediatric
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mtm1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy to Myopathy, centronuclear, X-linked, MIM# 310400
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mtm1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rylee Peters (Victorian Clinical Genetics Services)gene: MTM1 was added gene: MTM1 was added to Liver Failure_Paediatric. Sources: Literature Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MTM1 were set to PMID: 37490339 Phenotypes for gene: MTM1 were set to X-linked myotubular myopathy