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Fetal anomalies

Gene: ASPH

Amber List (moderate evidence)

ASPH (aspartate beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000198363
EnsemblGeneIds (GRCh37): ENSG00000198363
OMIM: 600582, Gene2Phenotype
ASPH is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Created: 11 Dec 2018, 9:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
OMIM
600582
Clinvar variants
Variants in ASPH
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ASPH was added gene: ASPH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS