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Inborn errors of metabolism

Gene: ATAD3B

Red List (low evidence)

ATAD3B (ATPase family, AAA domain containing 3B)
EnsemblGeneIds (GRCh38): ENSG00000160072
EnsemblGeneIds (GRCh37): ENSG00000160072
OMIM: 612317, Gene2Phenotype
ATAD3B is in 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: No current evidence for an association with mitochondrial disorder phenotype.
Created: 26 Feb 2016, 12:27 p.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no reports of mutations in literature
Created: 3 Feb 2016, 5:56 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Influence on AIDS progression
  • No OMIM phenotype
OMIM
612317
Clinvar variants
Variants in ATAD3B
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ATAD3B was added gene: ATAD3B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATAD3B was set to Unknown Phenotypes for gene: ATAD3B were set to Influence on AIDS progression; No OMIM phenotype