1. Panels
  2. Overgrowth
  3. ABCC9
STRs in panel
Prev Next
Regions in panel
Prev Next

Overgrowth

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neonatal macrosomia is a key feature of this syndrome.
Created: 4 Jul 2020, 2:42 a.m. | Last Modified: 4 Jul 2020, 2:42 a.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome

Publications

Created: 4 Jul 2020, 2:42 a.m.
Last Modified: 4 Jul 2020, 2:42 a.m.
Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertrichotic osteochondrodysplasia, MIM# 239850
  • Cantu syndrome
OMIM
601439
Clinvar variants
Variants in ABCC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcc9 has been classified as Green List (High Evidence).

4 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCC9 were set to

4 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCC9 was added gene: ABCC9 was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCC9 was set to Unknown