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Mendeliome

Gene: ABCB6

Green List (high evidence)

ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group))
EnsemblGeneIds (GRCh38): ENSG00000115657
EnsemblGeneIds (GRCh37): ENSG00000115657
OMIM: 605452, Gene2Phenotype
ABCB6 is in 3 panels

2 reviews

Katrina Bell (Murdoch Children's Research Institute)

Green List (high evidence)

vndsnvmsd.nVJs.nVJKVSSV
Created: 17 Feb 2025, 10:47 p.m. | Last Modified: 17 Feb 2025, 10:47 p.m.
Panel Version: 1.2301

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Campomelic dysplasia with autosomal sex reversal 114290

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Evidence for association with microphthalmia is limited/disputed, some of the variants originally reported are present at population frequencies not compatible with Mendelian disorder.
Created: 24 Apr 2021, 9:14 p.m. | Last Modified: 24 Apr 2021, 9:14 p.m.
Panel Version: 0.7340

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153; Microphthalmia, isolated, with coloboma 7, MIM# 614497; Dyschromatosis universalis hereditaria 3, MIM# 615402

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153
  • Microphthalmia, isolated, with coloboma 7, MIM# 614497
  • Dyschromatosis universalis hereditaria 3, MIM# 615402
OMIM
605452
Clinvar variants
Variants in ABCB6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcb6 has been classified as Green List (High Evidence).

24 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCB6 were changed from to Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153; Microphthalmia, isolated, with coloboma 7, MIM# 614497; Dyschromatosis universalis hereditaria 3, MIM# 615402

24 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCB6 were set to

24 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCB6 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: ABCB6 was added gene: ABCB6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCB6 was set to Unknown