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DDG2P

Gene: ABCC9

Green List (high evidence)
ABCC9 (ATP binding cassette subfamily C member 9)
EnsemblGeneIds (GRCh38): ENSG00000069431
EnsemblGeneIds (GRCh37): ENSG00000069431
OMIM: 601439, Gene2Phenotype
ABCC9 is in 14 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ABCC9-related Cantu Syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 22608503, 22610116, 30089727, 31175705, 31828977, 33529173, 34453476). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03442. The DDG2P confidence category, allelic requirement and molecular mechanism for ABCC9-related intellectual disability, myopathy and white matter abnormalities are moderate, biallelic_autosomal and loss of function (PMIDs: 31575858, 38217872). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03920.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, OMIM:239850 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
OMIM:619719.0; MONDO:0009406; MONDO:0859224; CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, OMIM:239850; ABCC9-related intellectual disability, myopathy and white matter abnormalities; OMIM:239850.0; ABCC9-related Cantu Syndrome

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.18

Arina Puzriakova (Genomics England Curator)

Review below by Tracy Lester (14 Jul 2020) was copied and curated on the Intellectual disability panel
Created: 22 Jan 2021, 10:19 a.m. | Last Modified: 22 Jan 2021, 10:19 a.m.
Panel Version: 2.18
Created: 22 Jan 2021, 10:19 a.m.
Last Modified: 22 Jan 2021, 10:19 a.m.
Panel version: 2.18

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Authors report 6 cases from 2 families, all with homozygous c.1320+1G>A. Phenotype of mild ID, similar facies, myopathy, cerebral white matter hyperintensities, and cardiac systolic dysfunction in the oldest cases.
'This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function'.
Just 2 families so doesn't fulfil criteria for green gene yet in terms of ID - amber
Created: 14 Jul 2020, 6:20 p.m. | Last Modified: 14 Jul 2020, 6:20 p.m.
Panel Version: 2.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mild ID; similar facies, myopathy; cerebral white matter hyperintensities; cardiac systolic dysfunction

Publications

Created: 14 Jul 2020, 6:20 p.m.
Last Modified: 14 Jul 2020, 6:20 p.m.
Panel version: 2.9

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: activating.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ABCC9 was changed from Other to None

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene ABCC9 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ABCC9 was added gene: ABCC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850 Mode of pathogenicity for gene: ABCC9 was set to Other - please provide details in the comments