Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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 16 panels

1 review

Ivone Leong (Genomics England Curator)

MOI should be changed from "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" to "X-LINKED: hemizygous mutation in males, biallelic mutations in females" as there is no evidence that carrier females have ataxia.
Created: 19 Jul 2021, 12:29 p.m. | Last Modified: 19 Jul 2021, 12:29 p.m.
Panel Version: 2.222

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

History Filter Activity

19 Jul 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_MOI tag was added to gene: ABCB7.

7 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia to Anemia, sideroblastic, with ataxia, OMIM:301310

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ABCB7 was added gene: ABCB7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia