SLC45A2

solute carrier family 45 member 2
OMIM: 606202, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
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 1.176

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 3.8
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 4.83
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 3.76
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