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Intellectual disability update Jan 2018

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

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added alternative names to disorder
Created: 14 Mar 2018, 1:22 p.m.
Created: 14 Mar 2018, 1:22 p.m.

Panel version: 0.482

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.
Created: 8 Mar 2018, 2:29 p.m.

Panel version: 0.448

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.
Created: 8 Mar 2018, 10:38 a.m.

Panel version: 0.423

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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • 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
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MBTPS2 were set to 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

8 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Mar 2018, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205

8 Mar 2018, Gel status: 3

Set mode of inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for MBTPS2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Mar 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for MBTPS2 were set to ?Olmsted syndrome, X-linked 300918; IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800

8 Mar 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for MBTPS2 were set to 21426410; 22105905; 24090718; 23316014; 21179107; 19361614

8 Mar 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for MBTPS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

8 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MBTPS2 was added to Intellectual disability update Jan 2018 panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MBTPS2 was created by Ellen McDonagh