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Intellectual disability

Gene: SOBP

Red List (low evidence)

SOBP (sine oculis binding protein homolog)
EnsemblGeneIds (GRCh38): ENSG00000112320
EnsemblGeneIds (GRCh37): ENSG00000112320
OMIM: 613667, Gene2Phenotype
SOBP is in 3 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS (MRAMS)

Publications

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

ID phenotype but insufficient unrelated cases to rate Green. PMID:21035105 (2010) identify a R661-Ter variant in 7 siblings affected with ID from a consanguineous Israeli Arab family.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
syndromic and nonsyndromic ID with psychosis; Mental retardation, anterior maxillary protrusion, and strabismus, 613671; MRAMS

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • syndromic and nonsyndromic ID with psychosis
  • Mental retardation, anterior maxillary protrusion, and strabismus, 613671
  • MRAMS
Tags
watchlist
OMIM
613667
Clinvar variants
Variants in SOBP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SOBP.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene SOBP was set to ['21035105', ' 17618476']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SOBP was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene SOBP was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOBP was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen