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Intellectual disability syndromic and non-syndromic

Gene: ABCC6

Red List (low evidence)

ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Comment when marking as ready: Agree not an ID gene
Created: 28 Nov 2019, 2:48 a.m. | Last Modified: 28 Nov 2019, 2:48 a.m.
Panel Version: 0.18

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

GACI and PXE are not typically associated with intellectual disability
Created: 23 Nov 2019, 1:48 a.m. | Last Modified: 23 Nov 2019, 1:48 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arterial calcification, generalized, of infancy, 2, MIM#614473; Pseudoxanthoma elasticum, MIM#264800

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: abcc6 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Set mode of inheritance

Chirag Patel (Genetic Health Queensland)

Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: abcc6 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCC6 was added gene: ABCC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ABCC6 was set to Unknown