MEGF10

multiple EGF like domains 10
OMIM: 612453, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MEGF10 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399

Green MEGF10 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • MEGF10-Related Myopathy MONDO:0013731

Green MEGF10 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)

Green MEGF10 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

Green MEGF10 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399)

Green MEGF10 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital myopathy 10A, severe variant, MIM #614399
  • Congenital myopathy 10B, mild variant, MIM #620249

Red MEGF10 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399