Cytopenias and congenital anaemias
Gene: ANKRD35
ANKRD35 (ankyrin repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000198483
EnsemblGeneIds (GRCh37): ENSG00000198483
ANKRD35 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000198483
EnsemblGeneIds (GRCh37): ENSG00000198483
ANKRD35 is in 1 panel
2 reviews
Olivia Niblock (Genomics England Curator)
No direct evidence linking this gene with the phenotype. Cannot find gene on OMIM. The phenotype is linked to a 200kb-500kb microdeletion in 1q21.1, so this would be classed as a structural variant rather than a deletion. This gene is within the ~12 genes that are deleted in this phenotype.Created: 9 Mar 2017, 4:32 p.m.
Phenotypes
Thrombocytopenia Absent-Radius Syndrome
Ellen McDonagh (Genomics England Curator)
The UKGTN gene dossier explains that a 200kb deletion at 1q21.1 encompassing the genes; HFE2, TXNIP, PLOR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT1, is tested for diagnosis of Thrombocytopenia Absent-Radius Syndrome. "PLOR3GL" is likely to be POLR3GL, the correct spelling for this gene in this region.Created: 25 Jun 2015, 10:59 a.m.
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
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- Thrombocytopenia Absent-Radius Syndrome
- Tags
- Clinvar variants
- Variants in ANKRD35
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)ANKRD35 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
17 Feb 2017, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)ANKRD35 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)ANKRD35 was created by LouiseD