Hydrocephalus
Gene: MYMKAdded 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
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
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
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
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
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.
Tag Q4_21_rating tag was added to gene: MYMK.
Tag to_be_confirmed_NHSE tag was added to gene: MYMK.
Tag Q4_21_phenotype tag was added to gene: MYMK.
Tag Q4_21_expert_review tag was added to gene: MYMK.
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
Source NHS GMS was added to MYMK.
TMEM8C was changed to MYMK
new-gene-name was removed from TMEM8C. Panel: Hydrocephalus
This gene has been classified as Green List (High Evidence).
TMEM8C was added to Hydrocephaluspanel. Sources: Literature
TMEM8C was created by sleigh