SHH

sonic hedgehog
OMIM: 600725, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red SHH in Currarino triad Version 1.2	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes holoprosencephaly Holoprosencephaly 3
Red SHH in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	Not set	Sources Emory Genetics Laboratory
Amber SHH in Pituitary hormone deficiency Level 2: Endocrinology Version 4.7 Latest signed off version: v4.6 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center UKGTN Phenotypes Microphthalmia with coloboma 5 (611638) Holoprosencephaly 3 (142945) Tags watchlist
Red SHH in Limb disorders Level 2: Musculoskeletal Version 8.6 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Literature Phenotypes Preaxial polydactyly holoprosencephaly preaxial polydactyly Polydactyly Tags regulatory-region
Red SHH in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.125	review	Not set	Sources Expert list Expert Review Red
Red SHH in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.52	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
Green SHH in Holoprosencephaly Level 2: Neurology Version 6.1 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Cerebral malformation Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Other UKGTN Phenotypes Holoprosencephaly-3 Holoprosencephaly Holoprosencephaly 3, 142945
Red SHH in Skeletal dysplasia Level 2: Musculoskeletal Version 9.9 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Preaxial polydactyly type 1 (PPD1)
Red SHH in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.182	review	Not set	Sources Expert Review Red Expert list
Green SHH in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.10 Latest signed off version: v7.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes HOLOPROSENCEPHALY TYPE 3 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Green SHH in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 HOLOPROSENCEPHALY TYPE 3 236100
Green SHH in Clefting Level 2: Musculoskeletal Version 7.3 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 3 HPE3
Green SHH in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.57	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
Red SHH in Early onset or syndromic epilepsy Level 2: Neurology Version 9.7 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services
Green SHH in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME (TPTPS)
Green SHH in Structural eye disease Level 2: Ophthalmology Version 5.6 Latest signed off version: v5.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Holoprosencephaly-3, 142945 Schizencephaly, 269160 Single median maxillary central incisor, 147250 Microphthalmia with coloboma 5, 611638
Red SHH in Unexplained young onset end-stage renal disease - additional genes Level 2: Renal Version 2.1 Latest signed off version: v2.0 (6 May 2026) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Unknown	Sources Expert Review Red