Neonatal cholestasis

Gene: MYO5B

Red List (low evidence)

MYO5B (myosin VB)
EnsemblGeneIds (GRCh38): ENSG00000167306
EnsemblGeneIds (GRCh37): ENSG00000167306
OMIM: 606540, Gene2Phenotype
MYO5B is in 10 panels

2 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Red on the basis of the phenotype and scope of the panel.
Created: 27 Jul 2018, 10:31 a.m.
Comment on phenotypes: Microvillus inclusion disease 251850
Created: 27 Jul 2018, 10:31 a.m.
There is evidence of a gene:disease relationship, however I do not see that the phenotype of intractable diarrhoea is relevant to this panel. It is green on the GI epithelial barrier disorders panel which is more appropriate.
Created: 27 Jul 2018, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microvillus inclusion disease 251850

Publications

Louise Daugherty (Genomics England Curator)

Gene added from King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel. This gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 25 Jul 2018, 4:18 p.m.

Mode of inheritance
Unknown

Phenotypes
MYO5B associated disease; Cholestasis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • MYO5B associated disease
  • Cholestasis
OMIM
606540
Clinvar variants
Variants in MYO5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

27 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: myo5b has been classified as Red List (Low Evidence).

27 Jul 2018, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for gene: MYO5B were set to MYO5B associated disease; Cholestasis

27 Jul 2018, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for gene: MYO5B were set to 18724368

27 Jul 2018, Gel status: 1

Set mode of inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: myo5b has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myo5b has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MYO5B was added to Neonatal cholestasis panel. Sources: Expert list

25 Jul 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

MYO5B was created by Louise Daugherty