SHH

PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HOLOPROSENCEPHALY 3, HPE3
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500, SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250, HOLOPROSENCEPHALY TYPE 3 236100
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HOLOPROSENCEPHALY TYPE 3, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Component of the following Super Panels:
  • - Cerebral malformations
R-numbers: R85
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly-3, Holoprosencephaly, Holoprosencephaly 3, 142945
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
Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME (TPTPS)
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly-3, 142945, Schizencephaly, 269160, Single median maxillary central incisor, 147250, Microphthalmia with coloboma 5, 611638