Description
There is currently no eligibility statement for this condition
Panel Activity

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Penny Clouston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Chris Campbell (GEL)

    Group: Other
    Workplace: Other

  • Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

15 Entities

15 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
15 Entitiess
Green Green List (high evidence)
GPR143
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ocular albinism, type I, Nettleship-Falls type, 300500
Tags
Green Green List (high evidence)
HPS1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky-Pudlak syndrome 1
Tags
Green Green List (high evidence)
HPS3
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky-Pudlak syndrome 3
Tags
Green Green List (high evidence)
HPS4
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky-Pudlak syndrome 4
Tags
Green Green List (high evidence)
HPS5
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky-Pudlak syndrome 5
Tags
Green Green List (high evidence)
LRMDA
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type VII
Tags
Green Green List (high evidence)
LYST
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • oculo-cutaneous albinism
  • Chediak-Higashi syndrome
  • optic neuropathy with progressive vision loss
Tags
Green Green List (high evidence)
OCA2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, brown oculocutaneous
  • Albinism, oculocutaneous, type II
  • Skin/hair/eye pigmentation 1, blond/brown hair
  • Skin/hair/eye pigmentation 1, blue/nonblue eyes
Tags
Green Green List (high evidence)
SLC24A5
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type VI
  • Non-Syndromic Oculocutaneous Albinism
Tags
Green Green List (high evidence)
SLC45A2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • 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
Tags
Green Green List (high evidence)
TYR
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Albinism, oculocutaneous, type IA, OMIM:203100
  • Albinism, oculocutaneous, type IB, OMIM:606952
  • Waardenburg syndrome/albinism, digenic, OMIM:103470
Tags
Green Green List (high evidence)
TYRP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type III
Tags
Red Red List (low evidence)
GNAI3
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Auriculocondylar syndrome 1 602483
Tags
Red Red List (low evidence)
MITF
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome/ocular albinism, digenic,103470
  • Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A)
  • Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)
Tags
No list No list
OCA5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Removed
  • Literature
Phenotypes
  • Albinism, oculocutaneous, type V 615312
Tags
  • curated_removed
  • ensembl_ids_known_missing
  • locus-type-phenotype-only

Major version comments

Downloads

Download lists

Download Version