1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MYO18B
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: MYO18B

Green List (high evidence)
MYO18B (myosin XVIIIB)
EnsemblGeneIds (GRCh38): ENSG00000133454
EnsemblGeneIds (GRCh37): ENSG00000133454
OMIM: 607295, Gene2Phenotype
MYO18B is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.75

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.75

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.
Created: 7 Mar 2017, 3:57 p.m.

Copied from panel: Congenital myopathy v3.75

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

it is going to be added in the new diagnostic panel
Created: 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

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • London South GLH
  • Expert Review Green
  • NHS GMS
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

3 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: MYO18B was added gene: MYO18B was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green,London South GLH,Expert Review Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to 27879346; 27858739; 25748484; 32637634 Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 Penetrance for gene: MYO18B were set to Complete