SLC45A2

solute carrier family 45 member 2
OMIM: 606202, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SLC45A2 in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Oculocutaneous albinism type IV,606574 skin/hair/eye pigmentation 5,227240 Oculocutaneous Albinism Albinism, oculocutaneous, type IV
Green SLC45A2 in Ocular and oculo-cutaneous albinism Version 1.23	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Oculocutaneous albinism type IV,606574 skin/hair/eye pigmentation 5,227240 Oculocutaneous Albinism Albinism, oculocutaneous, type IV
Red SLC45A2 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green SLC45A2 in Pigmentary skin disorders Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes OCA4 Oculocutaneous albinism Predisposition to melanoma ALBINISM, OCULOCUTANEOUS, TYPE IV
Green SLC45A2 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.177	review	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
Green SLC45A2 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Oculocutaneous albinism type IV,606574 skin/hair/eye pigmentation 5,227240 Albinism, oculocutaneous, type IV Oculocutaneous Albinism
Amber SLC45A2 in Bleeding and platelet disorders Version 3.9 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber North West GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes 606574 Albinism, oculocutaneous, type IV
Red SLC45A2 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red SLC45A2 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes [Skin/hair/eye pigmentation 5, black/nonblack hair] [Skin/hair/eye pigmentation 5, dark/fair skin] Albinism, oculocutaneous, type IV, 606574 [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 Eye Disorders
Green SLC45A2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Albinism, oculocutaneous, type IV, 606574