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Prepair 1000+

Gene: MBTPS1

Amber List (moderate evidence)
MBTPS1 (membrane bound transcription factor peptidase, site 1)
EnsemblGeneIds (GRCh38): ENSG00000140943
EnsemblGeneIds (GRCh37): ENSG00000140943
OMIM: 603355, Gene2Phenotype
MBTPS1 is in 6 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: UPGRADE TO GREEN
Created: 28 Nov 2024, 3:11 a.m. | Last Modified: 28 Nov 2024, 3:11 a.m.
Panel Version: 1.608
Created: 28 Nov 2024, 3:11 a.m.
Last Modified: 28 Nov 2024, 3:11 a.m.
Panel version: 1.608

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes is characterised by postnatal-onset short stature, chest deformity (pectus carinatum or pectus excavatum), kyphosis and/or scoliosis, reduced bone density, inguinal hernia, protruding abdomen, cataracts, developmental delay, and dysmorphic facial features. Additional features can include waddling or staggering gait, craniosynostosis, mild intellectual disability, and seizures.
Six individuals from six families have been reported.
Created: 21 Nov 2024, 2:52 a.m. | Last Modified: 21 Nov 2024, 2:52 a.m.
Panel Version: 1.575

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392

Publications

Created: 21 Nov 2024, 2:52 a.m.
Last Modified: 21 Nov 2024, 2:52 a.m.
Panel version: 1.575

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Literature
Phenotypes
  • ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392
OMIM
603355
Clinvar variants
Variants in MBTPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: mbtps1 has been classified as Amber List (Moderate Evidence).

1 Jun 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MBTPS1 was added gene: MBTPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Literature,Expert Review Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to 32857899; 30046013; 32420688 Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392