Congenital ophthalmoplegia
Gene: MTM1
MTM1 (myotubularin 1)
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
External ophthalmoplegia is a prominent feature.
Sources: Expert listCreated: 16 Nov 2020, 4:41 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myotubular myopathy, X-linked, MIM# 310400
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myotubular myopathy, X-linked, MIM# 310400
- OMIM
- 300415
- Clinvar variants
- Variants in MTM1
- Penetrance
- None
- 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
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mtm1 has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mtm1 has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MTM1 was added gene: MTM1 was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, MIM# 310400 Review for gene: MTM1 was set to GREEN