Genomics England
GMS Panels
Panels
Genes and Entities

ASPH

aspartate beta-hydroxylase
OMIM: 600582
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Traboulsi syndrome, OMIM:601552
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Traboulsi syndrome, OMIM:601552, facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, MONDO:0011106