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Joubert syndrome

Gene: AHI1

Red List (low evidence)
AHI1 (Abelson helper integration site 1)
EnsemblGeneIds (GRCh38): ENSG00000135541
EnsemblGeneIds (GRCh37): ENSG00000135541
OMIM: 608894, Gene2Phenotype
AHI1 is in 19 panels

2 reviews

Penny Clouston (Oxford)

Green List (high evidence)

Positives within our diagnostic patient cohort. Evidence in literature.
Created: 15 Mar 2016, 10:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Mar 2016, 10:25 a.m.

Panel version: 0.15

Ellen McDonagh (Genomics England Curator)

Relevant phenotype and mode of inheritance was sourced from OMIM.
Created: 8 Jan 2016, 11:36 a.m.
Created: 8 Jan 2016, 11:30 a.m.

Panel version: 0.3

History Filter Activity

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene AHI1 were set to Joubert syndrome-3

8 Jan 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AHI1 was set to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

AHI1 was added to Joubert syndromepanel. Sources: Other

7 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AHI1 was created by ellenmcdonagh

7 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AHI1 was added to Joubert syndromepanel. Sources: Eligibility statement prior genetic testing