Inherited bleeding disorders

Gene: SLC45A2

Green List (high evidence)

SLC45A2 (solute carrier family 45 member 2)
EnsemblGeneIds (GRCh38): ENSG00000164175
EnsemblGeneIds (GRCh37): ENSG00000164175
OMIM: 606202, Gene2Phenotype
SLC45A2 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculocutaneous albinism and in some cases with mild bleeding symptoms and platelet dense granule secretion defect

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculocutaneous albinism and in some cases with mild bleeding symptoms and platelet dense granule secretion defect

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Oculocutaneous albinism and in some cases with mild bleeding symptoms and platelet dense granule secretion defect
OMIM
606202
Clinvar variants
Variants in SLC45A2
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SLC45A2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC45A2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC45A2 was created by ellenmcdonagh