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Pseudoxanthoma elasticum

Gene: ABCC6

Green List (high evidence)

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

ABCC6 has been added to the panel for R420 Pseudoxanthoma elasticum with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:26 p.m. | Last Modified: 30 Jun 2023, 3:26 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ABCC6 was added gene: ABCC6 was added to Pseudoxanthoma elasticum. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal