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Fetal anomalies

Gene: MTM1

Green List (high evidence)

MTM1 (myotubularin 1)
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 13 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Presents in fetal period with arthrogryposis, diaphragmatic eventuation and polyhydramnios
Created: 28 Jan 2022, 12:05 a.m. | Last Modified: 28 Jan 2022, 12:05 a.m.
Panel Version: 0.2842

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID but delayed motor development as part of phenotype of neuromuscular disorder.
Created: 5 Dec 2019, 1:43 a.m. | Last Modified: 5 Dec 2019, 1:43 a.m.
Panel Version: 0.445

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Myotubular myopathy, X-linked; OMIM#310400

History Filter Activity

28 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: mtm1 has been classified as Green List (High Evidence).

28 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MTM1 were changed from MYOTUBULAR MYOPATHY, X-LINKED to Myotubular myopathy, X-linked, MIM# 310400

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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