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  3. DNAL1
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Heterotaxy

Gene: DNAL1

Amber List (moderate evidence)
DNAL1 (dynein axonemal light chain 1)
EnsemblGeneIds (GRCh38): ENSG00000119661
EnsemblGeneIds (GRCh37): ENSG00000119661
OMIM: 610062, Gene2Phenotype
DNAL1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two Bedouin families, same homozygous (founder) missense variant, some functional data.
Created: 2 Jun 2020, 8:29 a.m. | Last Modified: 2 Jun 2020, 8:29 a.m.
Panel Version: 0.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 16, MIM# 614017

Publications

Created: 2 Jun 2020, 8:29 a.m.
Last Modified: 2 Jun 2020, 8:29 a.m.
Panel version: 0.99

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 16, MIM# 614017
Tags
founder
OMIM
610062
Clinvar variants
Variants in DNAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnal1 has been classified as Amber List (Moderate Evidence).

2 Jun 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017

2 Jun 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAL1 were set to

2 Jun 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Jun 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: DNAL1.

2 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnal1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAL1 was added gene: DNAL1 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNAL1 was set to Unknown