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This Panel is marked as Retired

Research panel - Severe Paediatric Disorders
Gene: SHH

SHH (sonic hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 17 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SHH; Recommended initial gene rating: Green List (high evidence); Phenotypes: Holoprosencephaly 3, 142945 (3) | Microphthalmia with coloboma 5, 611638 (3) | Schizencephaly, 269160 (3) | Single median maxillary central incisor, 147250 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

OMIM

Clinvar variants

Variants in SHH

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SHH were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Holoprosencephaly 3, 142945; Schizencephaly, 269160; Microphthalmia with coloboma 5, 611638; Single median maxillary central incisor, 147250 for gene: SHH

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SHH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SHH.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SHH. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SHH was added gene: SHH was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SHH was set to