NME8

NME/NM23 family member 8
OMIM: 607421, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red NME8 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.40

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 6, MIM# 610852

Red NME8 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.36

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 6, MIM# 610852

Red NME8 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 6 MIM#610852

Red NME8 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 6, MIM# 610852

Red NME8 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

1 review Not set
Sources
  • Emory Genetics Laboratory

Red NME8 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Ciliary dyskinesia, primary

Green NME8 in Fetal anomalies


Version 1.313

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CINCA syndrome, OMIM # 607115

Red NME8 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary