Fetal anomalies
Gene: MPZ

MPZ (myelin protein zero)
EnsemblGeneIds (GRCh38): ENSG00000158887
EnsemblGeneIds (GRCh37): ENSG00000158887
OMIM: 159440, Gene2Phenotype
MPZ is in 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.

Panel Version: 4.36

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Monoallelic variants associated with Charcot-Marie-Tooth disease have post-natal onset. Hypomyelinating neuropathy, congenital, 2 - most severe form on OMIM - say onset at birth / in utero, decreased fetal movements, arthrogryposis, distal contratures, scoliosis. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking . Think not to include as majority of MPZs will be later onset. Amber as potential phenotype but risk of incidental findings. Await clear report of prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.

Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypomyelinating neuropathy, congenital, 2, OMIM:618184

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Possible.
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Amber
PAGE Additional Gene List

Phenotypes

Hypomyelinating neuropathy, congenital, 2, OMIM:618184

OMIM

159440

Clinvar variants

Variants in MPZ

Penetrance

None

Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease, type 2I 607677; Roussy-Levy syndrome 180800; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Charcot-Marie-Tooth disease, type 1B 118200; Neuropathy, congenital hypomyelinating 605253; Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Charcot-Marie-Tooth disease, type 2J 607736 to Hypomyelinating neuropathy, congenital, 2, OMIM:618184

29 Aug 2024, Gel status: 2

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Amber was added to MPZ. Source NHS GMS was added to MPZ. Mode of inheritance for gene MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hypomyelinating neuropathy, congenital, 2, OMIM:618184 for gene: MPZ Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 1