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Intellectual disability

Gene: ABCB11

Red List (low evidence)

ABCB11 (ATP binding cassette subfamily B member 11)
EnsemblGeneIds (GRCh38): ENSG00000073734
EnsemblGeneIds (GRCh37): ENSG00000073734
OMIM: 603201, Gene2Phenotype
ABCB11 is in 9 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Downgraded from Amber to Red in context of the review by Konstantinos Varvagiannis
Created: 9 Oct 2020, 4:03 p.m. | Last Modified: 9 Oct 2020, 4:03 p.m.
Panel Version: 3.420

Konstantinos Varvagiannis (Other)

Red List (low evidence)

I could not find any evidence that the ABCB11-related phenotypes have ID as a feature.

ABCB11 is not included in gene panels for intellectual disability offered by several diagnostic laboratories.

As a result rating could possibly be changed to red (low evidence).
Created: 13 Dec 2018, 6:43 p.m.


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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 9:14 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Cholestasis, progressive familial intrahepatic 2, 601847
  • Cholestasis, benign recurrent intrahepatic, 2, 605479
Clinvar variants
Variants in ABCB11
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: abcb11 has been classified as Red List (Low Evidence).

12 Mar 2018, Gel status: 2

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.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

ABCB11 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0


BRIDGE consortium (NIHRBR-RD)

ABCB11 was created by BRIDGE