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Red cell disorders

Gene: ABCB7

Green List (high evidence)
ABCB7 (ATP binding cassette subfamily B member 7)
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 4 Sep 2021, 3:45 a.m. | Last Modified: 4 Sep 2021, 3:45 a.m.
Panel Version: 0.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Anaemia, sideroblastic, with ataxia, MIM# 301310

Publications

Created: 4 Sep 2021, 3:45 a.m.
Last Modified: 4 Sep 2021, 3:45 a.m.
Panel version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Anaemia, sideroblastic, with ataxia, MIM# 301310
OMIM
300135
Clinvar variants
Variants in ABCB7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcb7 has been classified as Green List (High Evidence).

4 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCB7 were changed from 301310 Sideroblastic anaemia; Anemia, sideroblastic, with ataxia; Anemia, sideroblastic, with ataxia, 301310; 301310 Sideroblastic Anemia and Ataxia; Sideroblastic Anemia and Ataxia to Anaemia, sideroblastic, with ataxia, MIM# 301310

4 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCB7 were set to 11843825; 4045952; 11050011

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 301310 Sideroblastic anaemia; Anemia, sideroblastic, with ataxia; Anemia, sideroblastic, with ataxia, 301310; 301310 Sideroblastic Anemia and Ataxia; Sideroblastic Anemia and Ataxia for gene: ABCB7 Publications for gene ABCB7 were updated from 11050011; 11843825; 4045952 to 11843825; 4045952; 11050011

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCB7 was added gene: ABCB7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ABCB7 were set to 11050011; 11843825; 4045952 Phenotypes for gene: ABCB7 were set to 301310 Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310; Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; 301310 Sideroblastic anaemia