DNAL1

dynein axonemal light chain 1
OMIM: 610062, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber DNAL1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 16, MIM# 614017
Tags
  • founder

Amber DNAL1 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 16, MIM# 614017
Tags
  • founder

Amber DNAL1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 16, MIM# 614017

Amber DNAL1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 16, MIM# 614017
Tags
  • founder

Red DNAL1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review Not set
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services

Red DNAL1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Primary ciliary dyskinesia

Amber DNAL1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 16, MIM# 614017

Red DNAL1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia