MTMR14

myotubularin related protein 14
OMIM: 611089, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber MTMR14 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes centronuclear myopathy
Amber MTMR14 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 Tags watchlist
No list MTMR14 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Removed DD-Gene2Phenotype Phenotypes CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150 Tags polygenic curated_removed
Red MTMR14 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Gene2Phenotype Phenotypes {Centronuclear myopathy, autosomal, modifier of}, 160150 Autosomal dominant centronuclear myopathy