Primary ciliary disorders
Gene: GAS2L2Comment on list classification: Promoting to Green based on expert review. Gene has been updated with Ensembl gene identifiers.Created: 4 May 2020, 1:51 p.m. | Last Modified: 4 May 2020, 1:51 p.m.
Panel Version: 1.24
Comment on list classification: Demoting to Amber for now as this gene currently has no Ensembl IDs in PanelApp. Will promote to green again when this issue is resolved.Created: 7 Nov 2019, 10:29 a.m. | Last Modified: 7 Nov 2019, 10:29 a.m.
Panel Version: 1.22
Comment on list classification: After consultation with the Genomics England clinical team it was decided to change the rating of this gene from Amber to Green based on the additional green expert review.Created: 6 Nov 2019, 4:12 a.m. | Last Modified: 6 Nov 2019, 4:12 a.m.
Panel Version: 1.21
On CGGL Royal Brompton PCD/Bronchiectasis/Ciliopathies Panel.
Limited, but good evidence in literature:
Only two patients described so far: Bustamante-Marin et al 2019 Am J Hum Genet 2019 104(2):229-245
They found homozygous frameshift in 56-year old with clinical PCD (two untested sibs also had PCD, and unaffected sib is carrier). Also second unrelated PCD patient, compound heterozygous with same frameshift and partial exon 5 /exon 6 deletion.
Also in this study: Loss of GAS2L2 disrupts cilia beat frequency and orientation, and GAS2L2 Mouse KO develops PCD-like phenotypeCreated: 24 Sep 2019, 4:23 p.m. | Last Modified: 24 Sep 2019, 4:23 p.m.
Panel Version: 1.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 618449 Ciliary dyskinesia, primary, 41
Publications
Variants in this GENE are reported as part of current diagnostic practice
PMID: 30665704 reports two unrelated individuals with clinical features of primary ciliary dyskinesia, one of whom had a homozygous frameshift variant in GAS2L2; the other was a compound heterozygote for the same variant and an intragenic deletion in GAS2L2. Cultured cells from one of the patients showed evidence of ciliary dysfunction and there was functional evidence of ciliary dysfunction in Xenopus and mouse knockouts.
Sources: Expert ReviewCreated: 24 Jan 2019, 12:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
Publications
Gene: gas2l2 has been classified as Green List (High Evidence).
Tag for-review was removed from gene: GAS2L2.
Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GAS2L2.
Gene: gas2l2 has been classified as Green List (High Evidence).
Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Gene: gas2l2 has been classified as Green List (High Evidence).
Phenotypes for gene: GAS2L2 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia; ?Ciliary dyskinesia, primary, 41 618449
Publications for gene: GAS2L2 were set to PMID: 30665704
Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
gene: GAS2L2 was added gene: GAS2L2 was added to Primary ciliary disorders. Sources: Expert Review watchlist tags were added to gene: GAS2L2. Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2L2 were set to PMID: 30665704 Phenotypes for gene: GAS2L2 were set to Primary ciliary dyskinesia Review for gene: GAS2L2 was set to AMBER