1. Panels
  2. Cholestasis Victorian Clinical Genetics Services
  3. ABCA7
STRs in panel
Prev Next
Regions in panel
Prev Next

Cholestasis Victorian Clinical Genetics Services

Gene: ABCA7

Amber List (moderate evidence)
ABCA7 (ATP binding cassette subfamily A member 7)
EnsemblGeneIds (GRCh38): ENSG00000064687
EnsemblGeneIds (GRCh37): ENSG00000064687
OMIM: 605414, Gene2Phenotype
ABCA7 is in 1 panel

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

This is a test gene
Sources: Expert Review
Created: 9 May 2019, 9:49 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Global developmental delay; Intellectual disability; Seizures; No OMIM number

Publications

Created: 9 May 2019, 9:49 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • No OMIM number
Tags
watchlist
OMIM
605414
Clinvar variants
Variants in ABCA7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: abca7 has been classified as Amber List (Moderate Evidence).

9 May 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ABCA7 was added gene: ABCA7 was added to Cholestasis Victorian Clinical Genetics Services. Sources: Expert Review watchlist tags were added to gene: ABCA7. Mode of inheritance for gene: ABCA7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ABCA7 were set to 1234567 Phenotypes for gene: ABCA7 were set to Global developmental delay; Intellectual disability; Seizures; No OMIM number Review for gene: ABCA7 was set to RED