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Ocular and Oculocutaneous Albinism v1.11 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Ocular and Oculocutaneous Albinism v1.11 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.11 AP3D1 Zornitza Stark Phenotypes for gene: AP3D1 were changed from Hermansky-Pudlak Syndrome 10 to Hermansky-Pudlak syndrome 10, MIM# 617050
Ocular and Oculocutaneous Albinism v1.10 AP3D1 Zornitza Stark Classified gene: AP3D1 as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v1.10 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.9 AP3D1 Zornitza Stark reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v1.9 AP3D1 John Coleman gene: AP3D1 was added
gene: AP3D1 was added to Ocular and Oculocutaneous Albinism. Sources: Expert Review,Literature,NHS GMS
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to (PMID: 26744459; 30472485; 19032734; 36445457)
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak Syndrome 10
Penetrance for gene: AP3D1 were set to unknown
Review for gene: AP3D1 was set to AMBER
Added comment: First family Turkish consanguineous with with severe neurologic impairment, oculocutaneous albinism, and immunodeficiency. PTC variant. Progressive epilepsy with intractable seizures (myoclonic jerks/ tonic clonic) and passed away 3.5 years (PMID: 26744459). Features of this case included infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. Another consanguineous family with Frameshift variants with 1 male and 2 females with seizures seizures (male 10 years, females shortly after birth), tonic clonic (PMID: 30472485) and other features of Hermansky-Pudlak Syndrome 10 (including platelet defects, oculocutaneous albinism, and immunodeficiency). Mouse model (19032734) shows knock out of AP3D1 shows albinism characteristics, difference in input resistance of the neurons, a difference in the synaptic short-term plasticity of glutamatergic autapses showing a larger synaptic depression than controls. 2023 paper (PMID 36445457) shows a family with missense homozygous variants - they present with hearing loss, 2 siblings with neurodevelopmental delay and 2 with abnormality of the brain structurally, no albinism in this family. 2 affected families with PTCs but albinism phenotype not clear in all cases. Imp: moderate evidence ?2 affected plus affected albinism mice knock out model = suspicious. Amber on Panel App UK.
Sources: Expert Review, Literature, NHS GMS
Ocular and Oculocutaneous Albinism v1.9 PMEL Zornitza Stark Marked gene: PMEL as ready
Ocular and Oculocutaneous Albinism v1.9 PMEL Zornitza Stark Gene: pmel has been classified as Red List (Low Evidence).
Ocular and Oculocutaneous Albinism v1.9 PMEL Zornitza Stark Classified gene: PMEL as Red List (low evidence)
Ocular and Oculocutaneous Albinism v1.9 PMEL Zornitza Stark Gene: pmel has been classified as Red List (Low Evidence).
Ocular and Oculocutaneous Albinism v1.8 PMEL Paul De Fazio edited their review of gene: PMEL: Changed phenotypes: Oculocutaneous albinism, PMEL-related MONDO:0018910
Ocular and Oculocutaneous Albinism v1.8 PMEL Paul De Fazio gene: PMEL was added
gene: PMEL was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: PMEL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMEL were set to 36166100; 36207673
Phenotypes for gene: PMEL were set to Cculocutaneous albinism, PMEL-related MONDO:0018910
Review for gene: PMEL was set to RED
gene: PMEL was marked as current diagnostic
Added comment: A consanguineous family with oculocutaneous albinism and Hirschsprung disease was found to have a biallelic LoF variant in PMEL, which although NMD-predicted was found not to result in NMD by RT-PCR.

Some evidence that polymorphisms in this gene influence pigmentation in cattle.
Sources: Literature
Ocular and Oculocutaneous Albinism v1.8 TPCN2 Seb Lunke Marked gene: TPCN2 as ready
Ocular and Oculocutaneous Albinism v1.8 TPCN2 Seb Lunke Gene: tpcn2 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.8 TPCN2 Seb Lunke Classified gene: TPCN2 as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v1.8 TPCN2 Seb Lunke Gene: tpcn2 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.7 TPCN2 Paul De Fazio edited their review of gene: TPCN2: Changed phenotypes: Hypopigmentation of the skin, TPCN2-related MONDO:0019290
Ocular and Oculocutaneous Albinism v1.7 TPCN2 Paul De Fazio gene: TPCN2 was added
gene: TPCN2 was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: TPCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TPCN2 were set to 36641477
Phenotypes for gene: TPCN2 were set to Hypopigmentation of the skin MONDO:0019290
Mode of pathogenicity for gene: TPCN2 was set to Other
Review for gene: TPCN2 was set to AMBER
gene: TPCN2 was marked as current diagnostic
Added comment: A de novo variant in TPCN2, R210C, was identified in a girl who exhibited white skin, blonde hair that darkened to brown with age, no apparent nystagmus and photophobia, and normal vision acuity. Color fundus photography and optical coherence tomography (OCT) showed normal and well-developed macula and fovea. The variant has 1 het in gnomad.

Mice harbouring the homologous variant recapitulate the phenotype. Functional testing indicates the variant has a gain of function effect.
Sources: Literature
Ocular and Oculocutaneous Albinism v1.7 Zornitza Stark HPO terms changed from to Albinism HP:0001022; Ocular albinism, HP:0001107
List of related panels changed from Albinism HP:0001022 to Albinism HP:0001022; Ocular albinism; HP:0001107
Ocular and Oculocutaneous Albinism v1.6 Zornitza Stark List of related panels changed from to Albinism HP:0001022
Ocular and Oculocutaneous Albinism v1.5 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Ocular and Oculocutaneous Albinism v1.5 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340
Ocular and Oculocutaneous Albinism v1.4 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Ocular and Oculocutaneous Albinism v1.4 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Classified gene: CLCN7 as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v1.2 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v1.1 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLCN7 was set to AMBER
Added comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Bi-allelic variants in this gene are associated with osteopetrosis.
Sources: Literature
Ocular and Oculocutaneous Albinism v1.0 Zornitza Stark promoted panel to version 1.0
Ocular and Oculocutaneous Albinism v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from to Albinism, oculocutaneous, type VI, MIM# 113750
Ocular and Oculocutaneous Albinism v0.60 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to
Ocular and Oculocutaneous Albinism v0.59 SLC24A5 Zornitza Stark Mode of inheritance for gene: SLC24A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.58 SLC24A5 Zornitza Stark reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI, MIM# 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683
Ocular and Oculocutaneous Albinism v0.57 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Ocular and Oculocutaneous Albinism v0.56 SLC45A2 Zornitza Stark Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.55 SLC45A2 Zornitza Stark reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907, 14722913, 14961451; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574, MONDO:0011683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Marked gene: TYR as ready
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100; MONDO:0008745; Albinism, oculocutaneous, type IB, MIM# 606952
Ocular and Oculocutaneous Albinism v0.54 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.53 TYR Zornitza Stark reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100, Albinism, oculocutaneous, type IB, MIM# 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Phenotypes for gene: TYRP1 were changed from to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747
Ocular and Oculocutaneous Albinism v0.52 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Ocular and Oculocutaneous Albinism v0.51 TYRP1 Zornitza Stark Mode of inheritance for gene: TYRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.50 TYRP1 Zornitza Stark reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Marked gene: MC1R as ready
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200
Ocular and Oculocutaneous Albinism v0.49 MC1R Zornitza Stark Publications for gene: MC1R were set to
Ocular and Oculocutaneous Albinism v0.48 MC1R Zornitza Stark Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.47 MC1R Zornitza Stark Classified gene: MC1R as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v0.47 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.46 MC1R Zornitza Stark reviewed gene: MC1R: Rating: AMBER; Mode of pathogenicity: None; Publications: 12876664; Phenotypes: {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Marked gene: LYST as ready
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500
Ocular and Oculocutaneous Albinism v0.45 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.44 LYST Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM# 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070
Ocular and Oculocutaneous Albinism v0.43 LRMDA Zornitza Stark Publications for gene: LRMDA were set to
Ocular and Oculocutaneous Albinism v0.42 LRMDA Zornitza Stark Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.41 LRMDA Zornitza Stark reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23395477; Phenotypes: Albinism, oculocutaneous, type VII, MIM# 615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Gene: gpr143 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019
Ocular and Oculocutaneous Albinism v0.40 GPR143 Zornitza Stark Publications for gene: GPR143 were set to
Ocular and Oculocutaneous Albinism v0.39 GPR143 Zornitza Stark Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ocular and Oculocutaneous Albinism v0.38 GPR143 Zornitza Stark reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: None; Publications: 7647783, 9529334, 11793467; Phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500, MONDO:0021019; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Ocular and Oculocutaneous Albinism v0.37 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Ocular and Oculocutaneous Albinism v0.36 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.35 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Ocular and Oculocutaneous Albinism v0.34 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Ocular and Oculocutaneous Albinism v0.33 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.32 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Ocular and Oculocutaneous Albinism v0.31 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Ocular and Oculocutaneous Albinism v0.30 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.29 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Ocular and Oculocutaneous Albinism v0.28 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Ocular and Oculocutaneous Albinism v0.27 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.26 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Ocular and Oculocutaneous Albinism v0.25 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Ocular and Oculocutaneous Albinism v0.24 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.23 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076, MONDO:0013559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Ocular and Oculocutaneous Albinism v0.22 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Ocular and Oculocutaneous Albinism v0.21 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.20 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077, MONDO:0013560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Ocular and Oculocutaneous Albinism v0.19 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Ocular and Oculocutaneous Albinism v0.18 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.17 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Marked gene: DCT as ready
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.16 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165
Review for gene: DCT was set to GREEN
Added comment: Two unrelated families reported. Functional data including mouse model.
Sources: Literature
Ocular and Oculocutaneous Albinism v0.15 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, 619172
Ocular and Oculocutaneous Albinism v0.14 BLOC1S5 Zornitza Stark Marked gene: BLOC1S5 as ready
Ocular and Oculocutaneous Albinism v0.14 BLOC1S5 Zornitza Stark Gene: bloc1s5 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.14 BLOC1S5 Chirag Patel Classified gene: BLOC1S5 as Green List (high evidence)
Ocular and Oculocutaneous Albinism v0.14 BLOC1S5 Chirag Patel Gene: bloc1s5 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.14 BLOC1S5 Chirag Patel Classified gene: BLOC1S5 as Green List (high evidence)
Ocular and Oculocutaneous Albinism v0.14 BLOC1S5 Chirag Patel Gene: bloc1s5 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.13 BLOC1S5 Chirag Patel gene: BLOC1S5 was added
gene: BLOC1S5 was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to PMID: 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome type 11, no OMIM#
Review for gene: BLOC1S5 was set to GREEN
gene: BLOC1S5 was marked as current diagnostic
Added comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1, quantitative PCR analysis confirmatory in patient 2).

Functional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele.

Pathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively.
Sources: Literature
Ocular and Oculocutaneous Albinism v0.12 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Ocular and Oculocutaneous Albinism v0.12 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.12 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from to Hermansky-Pudlak syndrome 5 (MIM#614074)
Ocular and Oculocutaneous Albinism v0.11 HPS5 Zornitza Stark Publications for gene: HPS5 were set to
Ocular and Oculocutaneous Albinism v0.10 HPS5 Zornitza Stark Mode of inheritance for gene: HPS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.9 HPS5 Ain Roesley edited their review of gene: HPS5: Changed rating: GREEN
Ocular and Oculocutaneous Albinism v0.9 HPS5 Ain Roesley reviewed gene: HPS5: Rating: ; Mode of pathogenicity: None; Publications: 28296950, 32725903; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074),; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.9 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Ocular and Oculocutaneous Albinism v0.9 OCA2 Zornitza Stark Gene: oca2 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.9 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
Ocular and Oculocutaneous Albinism v0.8 OCA2 Zornitza Stark Publications for gene: OCA2 were set to
Ocular and Oculocutaneous Albinism v0.7 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.6 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32741191, 20301410; Phenotypes: Albinism, brown oculocutaneous, MIM# 203200, Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Ocular and Oculocutaneous Albinism v0.5 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Ocular and Oculocutaneous Albinism v0.4 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.3 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v0.3 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.2 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.2 Zornitza Stark Panel name changed from Ocular and oculocutaneous albinism_VCGS to Ocular and Oculocutaneous Albinism
Panel types changed to Victorian Clinical Genetics Services
Ocular and Oculocutaneous Albinism v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYRP1 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYR was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC45A2 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC24A5 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCA2 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 MC1R Zornitza Stark gene: MC1R was added
gene: MC1R was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MC1R was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LYST was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRMDA was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS6 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS5 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS4 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS3 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS1 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPR143 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DTNBP1 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLOC1S6 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 BLOC1S3 Zornitza Stark gene: BLOC1S3 was added
gene: BLOC1S3 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLOC1S3 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP3B1 was set to Unknown
Ocular and Oculocutaneous Albinism v0.0 Zornitza Stark Added panel Ocular and oculocutaneous albinism_VCGS