Genomics England

SHH

sonic hedgehog

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	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 5.0	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	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
Green in Holoprosencephaly - NOT chromosomal Component of the following Super Panels: - Cerebral malformation R-numbers: R85 Signed-off version 5.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Holoprosencephaly-3, Holoprosencephaly, Holoprosencephaly 3, 142945
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	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)
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Holoprosencephaly-3, 142945, Schizencephaly, 269160, Single median maxillary central incisor, 147250, Microphthalmia with coloboma 5, 611638