SHH

sonic hedgehog signaling molecule
OMIM: 600725, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red SHH in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Schizencephaly (MIM#269160) Tags disputed
Green SHH in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia with coloboma 5, MIM# 611638 Holoprosencephaly 3, MIM# 142945
Green SHH in Holoprosencephaly and septo-optic dysplasia Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 3 (MIM#142945)
Green SHH in Mendeliome Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 3, MIM#142945 Microphthalmia with coloboma 5, MIM#611638 Single median maxillary central incisor, MIM#147250 Hypertelorism, ACC, intellectual disability
Green SHH in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Green SHH in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypothalamic hamartoma Tags somatic
Green SHH in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SHH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Holoprosencephaly 3 (MIM#142945)
Red SHH in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Preaxial polydactyly type 1 (PPD1)
Amber SHH in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Hypopituitarism, MONDO:0005152 Microphthalmia with coloboma 5 (611638) Holoprosencephaly 3 (142945)
Green SHH in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Holoprosencephaly-3
Green SHH in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HOLOPROSENCEPHALY 3 HPE3
Green SHH in Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Single median maxillary central incisor, MIM# 147250
Green SHH in Fetal anomalies Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes 1. Holoprosencephaly 3 (MIM#142945), AD 2. Microphthalmia with coloboma 5 (MIM#611638), AD 3. Schizencephaly (MIM#269160) 4. Single median maxillary central incisor (MIM#147250) AD
Red SHH in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Holoprosencephaly 3, MIM#142945
Amber SHH in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Hypopituitarism, MONDO:0005152 Microphthalmia with coloboma 5 (611638) Holoprosencephaly 3 (142945)