SHOC2

SHOC2, leucine rich repeat scaffold protein
OMIM: 602775
PanelMode of inheritanceDetails
9 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan-like syndrome with loose anagen hair
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan-like syndrome with loose anagen hair, syndromic HCM
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan with loss of anagen hair, Noonan-like syndrome with loose anagen hair
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan-like syndrome with loose anagen hair, 607721, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NSLH1, Noonan-like syndrome with loose anagen hair, NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan-like syndrome with loose anagen hair 607721
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan-like syndrome with loose anagen hair