Coarse facial features including Coffin-Siris-like disorders

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 16 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Known to cause Cantu syndrome which is associated with hypertrichosis, neonatal macrosomia, osteochondrodysplasia, cardiomegaly and coarse facial features
Created: 23 Nov 2016, 9:51 a.m.

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Phenotypes
Cantu

History Filter Activity

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Nov 2016, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

ABCC9 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

23 Nov 2016, Gel status: 0

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for gene ABCC9 were set to Hypertrichotic osteochondrodysplasia 239850

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

ABCC9 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN

29 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

ABCC9 was created by alicegardham