Congenital myopathy
Gene: MYO18BEnsemblGeneIds (GRCh38): ENSG00000133454
EnsemblGeneIds (GRCh37): ENSG00000133454
OMIM: 607295, Gene2Phenotype
MYO18B is in 4 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
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
Helen Brittain (Genomics England Curator)
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.
Anna Sarkozy (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Phenotypes
-
- Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
- OMIM
- 607295
- Clinvar variants
- Variants in MYO18B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MYO18B were set to 27879346; 27858739; 25748484; 32637634
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MYO18B were set to 27879346; 27858739; 25748484
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYO18B.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to MYO18B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Set publications
Helen Brittain (Genomics England Curator)Publications for MYO18B were set to 27879346; 27858739; 25748484
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Anna Sarkozy (Great Ormond Street Hospital)MYO18B was created by anna.sarkozy
Added New Source
Anna Sarkozy (Great Ormond Street Hospital)MYO18B was added to Congenital myopathypanel. Sources: Expert Review