Genomics England
GMS Panels
Panels
Genes and Entities

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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OPHTHALMOACROMELIC SYNDROME 206920
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OPHTHALMOACROMELIC SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with limb anomalies, 206920, OPHTHALMOACROMELIC SYNDROME (OAS)
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ophthalmo-acromelic syndrome, Microphthalmia with limb anomalies 206920, Polydactyly
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with limb anomalies 206920, Ophthalmo-acromelic syndrome, Polydactyly
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with limb anomalies, 206920