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  3. GAS2L2
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Ciliary Dyskinesia

Gene: GAS2L2

Amber List (moderate evidence)
GAS2L2 (growth arrest specific 2 like 2)
EnsemblGeneIds (GRCh38): ENSG00000270765
EnsemblGeneIds (GRCh37): ENSG00000132139
OMIM: 611398, Gene2Phenotype
GAS2L2 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and functional evidence.
Created: 25 May 2020, 7:26 a.m. | Last Modified: 25 May 2020, 7:26 a.m.
Panel Version: 0.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 41 (MIM # 618449)

Publications

Created: 17 Jan 2020, 2:34 a.m.
Last Modified: 17 Jan 2020, 2:34 a.m.
Panel version: 0.94

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 30665704; 2 unrelated probands with Primary ciliary dyskinesia. Segregation not done.

To make the gene amber please.
Created: 17 Jan 2020, 2:21 a.m. | Last Modified: 17 Jan 2020, 2:21 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Ciliary dyskinesia, primary, 41 (MIM # 618449)

Publications

Created: 17 Jan 2020, 2:21 a.m.
Last Modified: 17 Jan 2020, 2:21 a.m.
Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 41 (MIM # 618449)
OMIM
611398
Clinvar variants
Variants in GAS2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gas2l2 has been classified as Amber List (Moderate Evidence).

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gas2l2 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gas2l2 has been classified as Amber List (Moderate Evidence).

17 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)

17 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GAS2L2 were set to

17 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gas2l2 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: GAS2L2 was added gene: GAS2L2 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GAS2L2 was set to Unknown