Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Additional findings_Paediatric

Gene: AHSP

Red List (low evidence)

AHSP (alpha hemoglobin stabilizing protein)
EnsemblGeneIds (GRCh38): ENSG00000169877
EnsemblGeneIds (GRCh37): ENSG00000169877
OMIM: 605821, Gene2Phenotype
AHSP is in 2 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Thalassaemia
OMIM
605821
Clinvar variants
Variants in AHSP
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: AHSP was added gene: AHSP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHSP were set to Thalassaemia