XYLT2

xylosyltransferase 2
OMIM: 608125
PanelMode of inheritanceDetails
4 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloocular syndrome, 605822
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloocular syndrome 605822
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloocular syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloocular syndrome 605822