Retinitis pigmentosa_Autosomal Recessive/X-linked

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

0 reviews

History Filter Activity

24 May 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: AHI1 were changed from Joubert syndrome 17 to nonsyndromic retinitis pigmentosa; Joubert syndrome 17

24 May 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: AHI1 were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AHI1 was added gene: AHI1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,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 17