Congenital myopathy
Gene: MYO18B
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: 3 separate cases and zebrafish model reviewed. Appropriate evidence for relevant phenotype. Green.Created: 7 Mar 2017, 4 p.m.
Comment on publications: Zebrafish model (27879346); one case with nemaline myopathy and cardiomyopathy (27858739); two cases with Klippel-Feil and myopathy (25748484)Created: 7 Mar 2017, 3:59 p.m.
Comment on list classification: 3 cases and zebrafish model reviewed from the literature. Sufficient evidence.Created: 7 Mar 2017, 3:57 p.m.
it is going to be added in the new diagnostic panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Phenotypes for gene: MYO18B were changed from Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689 to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
Publications for gene: MYO18B were set to 27879346; 27858739; 25748484; 32637634
Publications for gene: MYO18B were set to 27879346; 27858739; 25748484
Phenotypes for gene: MYO18B were changed from KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689
Source NHS GMS was added to MYO18B.
Source London South GLH was added to MYO18B. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Publications for MYO18B were set to 27879346; 27858739; 25748484
This gene has been classified as Green List (High Evidence).
MYO18B was created by anna.sarkozy
MYO18B was added to Congenital myopathypanel. Sources: Expert Review