Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: AHI1

No list

AHI1 (Abelson helper integration site 1)
EnsemblGeneIds (GRCh38): ENSG00000135541
EnsemblGeneIds (GRCh37): ENSG00000135541
OMIM: 608894, Gene2Phenotype
AHI1 is in 20 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:36 p.m.
Comment when marking as ready: Rated as red based on feedback from Genomics England Clinical team
Created: 16 Oct 2018, 2:57 p.m.
Comment on list classification: Rating as red from feedback from Genomics England clinical team. The presentation of Joubert syndrome is usually broader than isolated polydactyly. It could be useful for the diagnosis of neonates but not for any patients older than this.
Created: 2 Oct 2018, 3:46 p.m.
Checking with Genomics England clinical team whether the Jouberts Syndrome is a relevant phenotype for this panel.
Created: 26 Sep 2018, 2:17 p.m.
AHI1 is associated with Joubert syndrome 3 in OMIM and has a confirmed association in Gene2Phenotype. Skeletal abnormalities (such as the presence of extra fingers and toes) is a phenotype that is sometimes seen in patients with this syndrome but is not one of the dominant phenotypes. Parisi et al 2007 (PMID: 17377524) report that a survey of Saraiva et al 1992 (PMID: 1341417) found polydactyly in 16% of Joubert syndrome cases.

Variants in this gene have been in identified in multiple families with Joubert syndrome.
Created: 26 Sep 2018, 2:16 p.m.

Phenotypes
Joubert syndrome 3 608629

Publications

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: AHI1 is associated with Jouber

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ahi1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to AHI1. Rating Changed from Red List (low evidence) to No List (delete)

16 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ahi1 has been classified as Red List (Low Evidence).

16 Oct 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: AHI1 were changed from Polydactyly to Polydactyly; Joubert syndrome 3 608629

16 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: AHI1 were set to

2 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ahi1 has been classified as Red List (Low Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AHI1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

AHI1 was created by Ellen McDonagh