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  2. Bleeding and Platelet Disorders
  3. LMAN1
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Bleeding and Platelet Disorders

Gene: LMAN1

Green List (high evidence)
LMAN1 (lectin, mannose binding 1)
EnsemblGeneIds (GRCh38): ENSG00000074695
EnsemblGeneIds (GRCh37): ENSG00000074695
OMIM: 601567, Gene2Phenotype
LMAN1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families reported.
Created: 4 Jun 2021, 1:26 a.m. | Last Modified: 4 Jun 2021, 1:26 a.m.
Panel Version: 0.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined factor V and VIII deficiency, MIM# 227300

Publications

Created: 4 Jun 2021, 1:26 a.m.
Last Modified: 4 Jun 2021, 1:26 a.m.
Panel version: 0.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined factor V and VIII deficiency, MIM# 227300
  • MONDO:0009206
OMIM
601567
Clinvar variants
Variants in LMAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LMAN1 were changed from Combined factor V and VIII deficiency, MIM# 227300 to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lman1 has been classified as Green List (High Evidence).

4 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300

4 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LMAN1 were set to

4 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LMAN1 was added gene: LMAN1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LMAN1 was set to Unknown