Congenital myopathy

Gene: MYO18B

Green List (high evidence)

MYO18B (myosin XVIIIB)
EnsemblGeneIds (GRCh38): ENSG00000133454
EnsemblGeneIds (GRCh37): ENSG00000133454
OMIM: 607295, Gene2Phenotype
MYO18B is in 5 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.

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

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)

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

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
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689
OMIM
607295
Clinvar variants
Variants in MYO18B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Sep 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYO18B were set to 27879346; 27858739; 25748484; 32637634

30 Sep 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYO18B were set to 27879346; 27858739; 25748484

29 Jan 2021, Gel status: 3

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

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYO18B.

30 Apr 2019, Gel status: 3

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)

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2017, Gel status: 4

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

7 Mar 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for MYO18B were set to 27879346; 27858739; 25748484

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

MYO18B was created by anna.sarkozy

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

MYO18B was added to Congenital myopathypanel. Sources: Expert Review