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Prepair 1000+

Gene: MAN1B1

Green List (high evidence)

MAN1B1 (mannosidase alpha class 1B member 1)
EnsemblGeneIds (GRCh38): ENSG00000177239
EnsemblGeneIds (GRCh37): ENSG00000177239
OMIM: 604346, Gene2Phenotype
MAN1B1 is in 6 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Rafiq syndrome is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia.

HGNC approved symbol/name: MAN1B1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 29 Jan 2025, 2:54 a.m. | Last Modified: 29 Jan 2025, 2:54 a.m.
Panel Version: 1.1357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rafiq syndrome, MIM# 614202

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Rafiq syndrome, MIM# 614202
OMIM
604346
Clinvar variants
Variants in MAN1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man1b1 has been classified as Green List (High Evidence).

29 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAN1B1 were changed from Mental retardation, autosomal recessive 15, 614202 (3) to Rafiq syndrome, MIM# 614202

29 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAN1B1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAN1B1 was added gene: MAN1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)