Bilateral congenital or childhood onset cataracts
Gene: MAN2B1EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 15 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Cataracts fairly common in alpha-mannosidosis.Created: 7 Jun 2016, 1:12 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
Beck et al (2013) J Rare dis 8:88 4/44 patients had cataracts. Riise Steinland et al (2011) and others - mutations reported in several patients but no mention of cataracts. Mutations appear to be fully penetrant but cataracts do not appear to be predominant featureCreated: 25 May 2016, 8:11 a.m.
Publications
- Riise Steinland et al (2011) Hum Mutat 33:511-520
- Berg et al (1999) Am j Hum Genet 64:77-88
- Gotoda et al (1998) Am J Hum Genet 63:1015-1024
- and many others
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for LYSOSOMAL ALPHA-MANNOSIDOSIS (though I am unsure whether cataracts is a phenotype included in this).Created: 29 Apr 2016, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis alpha- types I and II
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Mannosidosis alpha- types I and II
- OMIM
- 609458
- Clinvar variants
- Variants in MAN2B1
- Penetrance
- Complete
- Publications
-
- Riise Steinland et al (2011) Hum Mutat 33:511-520
- Berg et al (1999) Am j Hum Genet 64:77-88
- Gotoda et al (1998) Am J Hum Genet 63:1015-1024
- and many others
- Panels with this gene
-
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Hyperammonaemia
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hydrocephalus
- Structural eye disease
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAN2B1 were set to Mannosidosis alpha- types I and II
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MAN2B1 were set to Riise Steinland et al (2011) Hum Mutat 33:511-520; Berg et al (1999) Am j Hum Genet 64:77-88; Gotoda et al (1998) Am J Hum Genet 63:1015-1024; and many others
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MAN2B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()MAN2B1 was added to Cataractspanel. Sources: UKGTN