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Mendeliome

Gene: MTMR14

Amber List (moderate evidence)

MTMR14 (myotubularin related protein 14)
EnsemblGeneIds (GRCh38): ENSG00000163719
EnsemblGeneIds (GRCh37): ENSG00000163719
OMIM: 611089, Gene2Phenotype
MTMR14 is in 2 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Single family and animal models; postulated to be a modifier in the other family.
Created: 8 Jul 2020, 3:51 a.m. | Last Modified: 8 Jul 2020, 3:51 a.m.
Panel Version: 0.3271

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Two mouse and one zebrafish model; however, only two families reported, and an alternative diagnosis was present in one.
Created: 7 Jul 2020, 11:43 p.m. | Last Modified: 7 Jul 2020, 11:43 p.m.
Panel Version: 0.3265

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Centronuclear myopathy, autosomal, modifier of}, MIM# 160150

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment on list classification: No evidence of Mendelian disease
Created: 28 May 2020, 11:38 p.m. | Last Modified: 28 May 2020, 11:38 p.m.
Panel Version: 0.2920
Cannot find any evidence that this gene is associated with Mendelian disease.
Created: 28 May 2020, 11:37 p.m. | Last Modified: 28 May 2020, 11:37 p.m.
Panel Version: 0.2919

Mode of inheritance
Unknown

Phenotypes
{Centronuclear myopathy, autosomal, modifier of} MIM#160150

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
OMIM
611089
Clinvar variants
Variants in MTMR14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtmr14 has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtmr14 has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtmr14 has been classified as Red List (Low Evidence).

8 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTMR14 were set to

8 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MTMR14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 May 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mtmr14 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTMR14 was added gene: MTMR14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MTMR14 was set to Unknown