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Fetal anomalies

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 15 Feb 2021, 7:30 a.m. | Last Modified: 15 Feb 2021, 7:30 a.m.
Panel Version: 0.93

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 3, MIM# 608629

Publications

Created: 15 Feb 2021, 7:30 a.m.
Last Modified: 15 Feb 2021, 7:30 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.93

Lauren Akesson (Royal Melbourne Hospital)

I don't know

CNS anomalies are described in Joubert syndrome including Joubert syndrome caused by variants in AHI1 (see OMIM report) including polymicrogyria, malformations of the corpus callosum, seizures, and spasticity.

A subset of individuals with Joubert syndrome have cortical malformations including polymicrogyria, heterotopias, dysplasia, pachygyria (Gene Reviews), although most studies describing these malformations were published prior to routine genotyping (for example, PMID 14981712) and it is therefore unknown whether these individuals had variants in AHI1. Individuals with Joubert syndrome due to variants in other genes have also been described with polymicrogyria (PMID 25920555).

Three individuals from two unrelated families with Joubert syndrome due to AHI1 variants had polymicrogyria, although one was described as “possible frontal polymicrogyria” (PMID 15467982)
Created: 21 Apr 2020, 12:31 a.m. | Last Modified: 21 Apr 2020, 12:31 a.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 3, MIM# 608629

Publications

Created: 21 Apr 2020, 12:31 a.m.
Last Modified: 21 Apr 2020, 12:31 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.33

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sources: Expert list
Created: 27 Nov 2019, 11:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 3

Publications

Created: 27 Nov 2019, 11:15 p.m.

Panel version: Imported from Renal Ciliopathies and Nephronophthisis panel version 0.1

History Filter Activity

28 Oct 2021, 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).

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AHI1 were changed from JOUBERT SYNDROME to Joubert syndrome 3, MIM# 608629

28 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AHI1 were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME