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Intellectual disability

Gene: MTMR14

Red List (low evidence)

MTMR14 (myotubularin related protein 14)
EnsemblGeneIds (GRCh38): ENSG00000163719
EnsemblGeneIds (GRCh37): ENSG00000163719
OMIM: 611089, Gene2Phenotype
MTMR14 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Currently there is not enough evidence to support this gene being upgraded from the Red rating
Created: 26 Feb 2018, 12:12 p.m.
Comment on phenotypes: To date there are only two unrelated cases caused by MTMR14. The phenotype observed includes more muscle weakness and Delayed motor development phenotypes than intellectual disability. This is a possible DD gene in Gene2Phenotype for Centronuclear myopathy, autosomal, modifier of. OMIM indicates that the mutations contribute to susceptibility to a multifactorial disorder.
Created: 26 Feb 2018, 12:12 p.m.
Comment on publications: added PMID to support ID phenotype.
Created: 26 Feb 2018, 12:05 p.m.
Comment on mode of inheritance: added MOI from OMIM and PMID:17008356
Created: 26 Feb 2018, 12:03 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • {Centronuclear myopathy, autosomal, modifier of}, 160150
  • Autosomal dominant centronuclear myopathy
OMIM
611089
Clinvar variants
Variants in MTMR14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTMR14 was added to Intellectual disability panel. Sources: Gene2Phenotype

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MTMR14 was created by Ellen McDonagh