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  2. Hydrocephalus_Ventriculomegaly
  3. MYMK
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Hydrocephalus_Ventriculomegaly

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Congenital myopathy; no structural brain abnormalities reported in molecularly confirmed cases.
Created: 5 Jan 2020, 2:32 a.m. | Last Modified: 5 Jan 2020, 2:32 a.m.
Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carey-Fineman-Ziter syndrome; OMIM #254940

Publications

Created: 5 Jan 2020, 2:32 a.m.
Last Modified: 5 Jan 2020, 2:32 a.m.
Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Carey-Fineman-Ziter syndrome
  • OMIM #254940
OMIM
615345
Clinvar variants
Variants in MYMK
Penetrance
None
Publications
Panels with this gene

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 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940

5 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYMK were set to 28681861

5 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYMK were set to

5 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYMK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

5 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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).

17 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 Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYMK was set to Unknown