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Additional findings_Paediatric

Gene: AMPD1

Red List (low evidence)

AMPD1 (adenosine monophosphate deaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000116748
EnsemblGeneIds (GRCh37): ENSG00000116748
OMIM: 102770, Gene2Phenotype
AMPD1 is in 5 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Adenosine monophosphate deaminase deficiency
OMIM
102770
Clinvar variants
Variants in AMPD1
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMPD1 was added gene: AMPD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency