Ocular and oculo-cutaneous albinism

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 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene found in 3/4 sources, and rated green by expert reviewer. More than 3 cases reported in OMIM for different variants in patients with Albinism, oculocutaneous, type IV from different ethnicities.
Created: 5 Sep 2016, 12:55 p.m.

Penny Clouston (Oxford)

Green List (high evidence)

Phenotypes
oculo-cutaneous albinism

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

Details

Mode of Inheritance
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
OMIM
606202
Clinvar variants
Variants in SLC45A2
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Sep 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: Panel internally revised after expert review, and approved to version 1.

5 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

SLC45A2 was added to Ocular and oculo-cutaneous albinismpanel. Source: Emory Genetics Laboratory

20 Jul 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

SLC45A2 was added to Ocular and oculo-cutaneous albinismpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

SLC45A2 was created by oniblock

20 Jul 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SLC45A2 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Radboud University Medical Center, Nijmegen