DNAH11

dynein axonemal heavy chain 11
OMIM: 603339, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green DNAH11 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.522

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart diseases
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884

Green DNAH11 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.70

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Green DNAH11 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.44

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Green DNAH11 in Mendeliome


Version 1.4216

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Red DNAH11 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.402

2 reviews Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services

Green DNAH11 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)

Green DNAH11 in Additional findings_Paediatric


Level 2: Screening
Version 0.280

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia

Green DNAH11 in Fetal anomalies


Version 1.522

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Green DNAH11 in Prepair 1000+


Level 2: Screening
Version 2.15

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Red DNAH11 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.147

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Green DNAH11 in Prepair 500+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Green DNAH11 in Infertility and Recurrent Pregnancy Loss


Version 1.78

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, # MIM 611884