Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: ABCC9

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Neonatal macrosomia is a key feature of this syndrome.
Sources: Expert list
Created: 4 Jul 2020, 2:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome

Publications

Created: 4 Jul 2020, 2:44 a.m.

Panel version: 1.94

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Hypertrichotic osteochondrodysplasia, OMIM:239850
Cantu syndrome

OMIM

601439

Clinvar variants

Variants in ABCC9

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ABCC9 were changed from Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome to Hypertrichotic osteochondrodysplasia, OMIM:239850; Cantu syndrome

4 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ABCC9 was added gene: ABCC9 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC9 were set to 22610116; 22608503 Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome Review for gene: ABCC9 was set to GREEN

Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Gene: ABCC9