1. Panels
  2. Prepair 1000+
  3. AHI1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: AHI1

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, intellectual disability, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) (PMID: 16155189).

Biallelic variants in the AHI1 gene account for ~7%-10% (PMID: 20301500) and may also cause retinal dystrophy and progressive kidney disease (PMID: 16155189).
Created: 25 Oct 2024, midnight | Last Modified: 25 Oct 2024, midnight
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 3 MIM#608629

Publications

Created: 25 Oct 2024, midnight
Last Modified: 25 Oct 2024, midnight
Panel version: 1.486

History Filter Activity

31 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahi1 has been classified as Green List (High Evidence).

31 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AHI1 were changed from Joubert syndrome-3, 608629 (3) to Joubert syndrome 3 MIM#608629

31 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AHI1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome-3, 608629 (3) for gene: AHI1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AHI1 was added gene: AHI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)