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Arthrogryposis

Gene: LMOD3

Green List (high evidence)

LMOD3 (leiomodin 3)
EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 5 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations found in 21 patients from 14 families. Mouse models support evidence
Created: 22 Dec 2016, 1:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10 616165

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nemaline myopathy 10 616165
OMIM
616112
Clinvar variants
Variants in LMOD3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

LMOD3 was created by agardham

22 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

LMOD3 was added to Arthrogryposispanel. Sources: Literature