SHH

Red SHH in Currarino triad

Version 1.1

Sources

• Other

Phenotypes

• holoprosencephaly
• Holoprosencephaly 3

Red SHH in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

Sources

• Emory Genetics Laboratory

Amber SHH in Pituitary hormone deficiency

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

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

Version 4.19
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.119

Component of the following Super Panels:

Sources

• Expert list
• Expert Review Red

Red SHH in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47

Sources

• Radboud University Medical Center, Nijmegen

Phenotypes

• Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160

Green SHH in Holoprosencephaly - NOT chromosomal

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.176

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert list

Red SHH in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red

Green SHH in Fetal anomalies

Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.109
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• HOLOPROSENCEPHALY 3
• HPE3

Green SHH in Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

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 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.195
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Red
• Victorian Clinical Genetics Services

Green SHH in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Holoprosencephaly-3, 142945
• Schizencephaly, 269160
• Single median maxillary central incisor, 147250
• Microphthalmia with coloboma 5, 611638

Green SHH in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Single median maxillary central incisor, 147250
• Holoprosencephaly 3, 142945
• Microphthalmia with coloboma 5, 611638
• Schizencephaly, 269160