Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: MBTPS2

Green List (high evidence)

MBTPS2 (membrane bound transcription factor peptidase, site 2)
EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 12 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added alternative name to disorder
Created: 14 Mar 2018, 1:23 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Although ID is not a universal feature, there are sufficient cases to consider inclusion on this panel.
Created: 8 Mar 2018, 2:31 p.m.
Comment on mode of inheritance: Reports of carrier females with skin and hair features, although not ID.
Created: 8 Mar 2018, 2:29 p.m.

Eleanor Williams (Genomics England Curator)

Comment on list classification: In OMIM this gene is associated with ?Olmsted syndrome, X-linked (MIM:300918), IFAP syndrome with or without BRESHECK syndrome (MIM:308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM:308800). At least 7 cases of individuals with IFAP syndrome with or without BRESHECK syndrome presenting with phenotypes that include psychomotor developmental delay or global developmental delay and SNVs in MBTPS2 - Oeffner et al. 2011 (PMID:21426410), Naiki et al. 2012 (PMID:22105905), Corujeira et al 2013 (PMID:24090718), Bornholdt et al 2013 (PMID:23316014), Nakayama et al 2011 (PMID:21179107).
Created: 8 Mar 2018, 1:11 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome 308205
  • IFAP syndrome with or without BRESHECK syndrome,308205
  • Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
OMIM
300294
Clinvar variants
Variants in MBTPS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to MBTPS2.

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205; IFAP syndrome with or without BRESHECK syndrome,308205; Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia

12 Mar 2018, Gel status: 4

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.

12 Mar 2018, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to MBTPS2. Panel: Intellectual disability Publications for gene MBTPS2 was set to ['21426410', '22105905', '24090718', '23316014', '21179107', '19361614']

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: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MBTPS2 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MBTPS2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MBTPS2 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MBTPS2 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen