SMOC1

SPARC related modular calcium binding 1
OMIM: 608488
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OPHTHALMOACROMELIC SYNDROME 206920
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OPHTHALMOACROMELIC SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with limb anomalies, 206920, OPHTHALMOACROMELIC SYNDROME (OAS)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ophthalmo-acromelic syndrome, Microphthalmia with limb anomalies 206920, Polydactyly
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with limb anomalies 206920, Ophthalmo-acromelic syndrome, Polydactyly
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with limb anomalies, 206920