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  3. MBTPS1
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Skeletal Dysplasia_Fetal

Gene: MBTPS1

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Review from fetal anomalies panel: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Literature
Created: 10 Nov 2022, 2:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392

Publications

Created: 10 Nov 2022, 2:02 a.m.

Panel version: 0.177

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbtps1 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MBTPS1 were changed from ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392 to Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbtps1 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

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