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Intellectual disability syndromic and non-syndromic

Gene: MYMK

Red List (low evidence)

MYMK (myomaker, myoblast fusion factor)
EnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

Comment on list classification: r/v with Dr Stark - not ID gene.
Created: 5 Dec 2019, 3:42 a.m. | Last Modified: 5 Dec 2019, 3:42 a.m.
Panel Version: 0.472
ID not reported as part of this syndrome, but delayed motor development relating to neuromuscular issues.
Created: 5 Dec 2019, 2:23 a.m. | Last Modified: 5 Dec 2019, 2:23 a.m.
Panel Version: 0.458

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carey-Fineman-Ziter syndrome; OMIM #254940

Details

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

5 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MYMK. Source Expert list was added to MYMK. Mode of inheritance for gene MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYMK was added gene: MYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYMK was set to Unknown