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Intellectual disability

Gene: AHI1

Green List (high evidence)

AHI1 (Abelson helper integration site 1)
EnsemblGeneIds (GRCh38): ENSG00000135541
EnsemblGeneIds (GRCh37): ENSG00000135541
OMIM: 608894, Gene2Phenotype
AHI1 is in 22 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 7:28 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:09 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a confirmed G2P. At least 10 variants reported.
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : NA
Created: 27 Jul 2017, 5:01 p.m.

Mode of inheritance
Unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to AHI1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to AHI1. Panel: Intellectual disability Model of inheritance for gene AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene AHI1 was set to ['15322546', ' 16453322']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AHI1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AHI1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen