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  3. MEGF10
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Arthrogryposis

Gene: MEGF10

Red List (low evidence)
MEGF10 (multiple EGF like domains 10)
EnsemblGeneIds (GRCh38): ENSG00000145794
EnsemblGeneIds (GRCh37): ENSG00000145794
OMIM: 612453, Gene2Phenotype
MEGF10 is in 5 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

No association with arthrogryposis
Created: 22 Dec 2016, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 614399

Created: 22 Dec 2016, 1:44 p.m.

Panel version: 1.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
OMIM
612453
Clinvar variants
Variants in MEGF10
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

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: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MEGF10 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services MEGF10 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen MEGF10 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MEGF10 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MEGF10 was added to Arthrogryposispanel. Sources: Expert list