1. Genes and Genomic Entities
  2. SLC45A2

SLC45A2

solute carrier family 45 member 2
OMIM: 606202, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green SLC45A2 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.11

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 1.24

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 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green SLC45A2 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

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 1.182

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


Level 2: Ophthalmology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

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 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red SLC45A2 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

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