Pigmentary skin disorders
Gene: SHOC2EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SHOC2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- NSLH1
- Noonan-like syndrome with loose anagen hair
- NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes NSLH1; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 for gene: SHOC2 Publications for gene SHOC2 were changed from to 19684605
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SHOC2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SHOC2 was added gene: SHOC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair