Hydrocephalus
Gene: MYMKEnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 6 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.Created: 2 May 2024, 10:48 a.m. | Last Modified: 2 May 2024, 10:48 a.m.
Panel Version: 4.6
Eleanor Williams (Genomics England Curator)
Added Q4_21_rating tag so that its clear that is is the rating that is being assessed.Created: 6 Oct 2022, 2:03 p.m. | Last Modified: 6 Oct 2022, 2:03 p.m.
Panel Version: 2.132
Sarah Leigh (Genomics England Curator)
As the recommendation is to demote MYMK from Green to Amber on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 5:50 p.m. | Last Modified: 15 Mar 2022, 5:50 p.m.
Panel Version: 2.127
Ivone Leong (Genomics England Curator)
Could not find any evidence of hydrocephalus associated with this gene in literature.Created: 14 Oct 2021, 2:53 p.m. | Last Modified: 14 Oct 2021, 2:53 p.m.
Panel Version: 2.118
Zornitza Stark (Australian Genomics)
Congenital myopathy; no structural brain abnormalities reported in molecularly confirmed cases.Created: 8 Aug 2020, 1:05 a.m. | Last Modified: 8 Aug 2020, 1:05 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carey-Fineman-Ziter syndrome; OMIM #254940
Publications
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Literature
- Phenotypes
-
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
- OMIM
- 615345
- Clinvar variants
- Variants in MYMK
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: MYMK.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Amber was added to MYMK. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: MYMK. Tag Q4_21_rating was removed from gene: MYMK. Tag Q4_21_phenotype was removed from gene: MYMK.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_rating tag was added to gene: MYMK.
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: MYMK.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_phenotype tag was added to gene: MYMK.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: MYMK.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYMK.
Changed Gene Name
GEL ()TMEM8C was changed to MYMK
Removed Tag
GEL ()new-gene-name was removed from TMEM8C. Panel: Hydrocephalus
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)TMEM8C was added to Hydrocephaluspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)TMEM8C was created by sleigh