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Hereditary Pigmentary Disorders v1.3 OSMR Bryony Thompson Marked gene: OSMR as ready
Hereditary Pigmentary Disorders v1.3 OSMR Bryony Thompson Gene: osmr has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v1.3 OSMR Bryony Thompson Classified gene: OSMR as Green List (high evidence)
Hereditary Pigmentary Disorders v1.3 OSMR Bryony Thompson Gene: osmr has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v1.1 OSMR Bryony Thompson gene: OSMR was added
gene: OSMR was added to Hereditary Pigmentary Disorders. Sources: Other
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OSMR were set to 19375894; 19528426; 25054142; 20507362; 19690585
Phenotypes for gene: OSMR were set to primary cutaneous amyloidosis MONDO:0015301
Hereditary Pigmentary Disorders v1.0 Bryony Thompson promoted panel to version 1.0
Hereditary Pigmentary Disorders v0.84 SNAI2 Bryony Thompson Marked gene: SNAI2 as ready
Hereditary Pigmentary Disorders v0.84 SNAI2 Bryony Thompson Gene: snai2 has been classified as Amber List (Moderate Evidence).
Hereditary Pigmentary Disorders v0.84 SNAI2 Bryony Thompson Classified gene: SNAI2 as Amber List (moderate evidence)
Hereditary Pigmentary Disorders v0.84 SNAI2 Bryony Thompson Gene: snai2 has been classified as Amber List (Moderate Evidence).
Hereditary Pigmentary Disorders v0.83 EDNRB Bryony Thompson Marked gene: EDNRB as ready
Hereditary Pigmentary Disorders v0.83 EDNRB Bryony Thompson Gene: ednrb has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.83 EDNRB Bryony Thompson Classified gene: EDNRB as Green List (high evidence)
Hereditary Pigmentary Disorders v0.83 EDNRB Bryony Thompson Gene: ednrb has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.82 EDN3 Bryony Thompson Marked gene: EDN3 as ready
Hereditary Pigmentary Disorders v0.82 EDN3 Bryony Thompson Gene: edn3 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.82 EDN3 Bryony Thompson Classified gene: EDN3 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.82 EDN3 Bryony Thompson Gene: edn3 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.79 EDN3 Bryony Thompson gene: EDN3 was added
gene: EDN3 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: EDN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to 8630502; 11303518; 9359047; 10231870; 30171849; 27370713
Phenotypes for gene: EDN3 were set to Waardenburg syndrome type 4B MONDO:0013201
Hereditary Pigmentary Disorders v0.78 EDNRB Bryony Thompson gene: EDNRB was added
gene: EDNRB was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: EDNRB were set to 28502583; 25852447; 21373256; 16237557; 11773966; 11891690; 8001158; 10528251; 10528251; 19764031; 28236341
Phenotypes for gene: EDNRB were set to Waardenburg syndrome type 4A MONDO:0010192
Hereditary Pigmentary Disorders v0.77 PAX3 Bryony Thompson Marked gene: PAX3 as ready
Hereditary Pigmentary Disorders v0.77 PAX3 Bryony Thompson Gene: pax3 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.77 PAX3 Bryony Thompson Classified gene: PAX3 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.77 PAX3 Bryony Thompson Gene: pax3 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.76 PAX3 Bryony Thompson gene: PAX3 was added
gene: PAX3 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX3 were set to 27759048; 7897628; 28690861; 30314436; 25932447
Phenotypes for gene: PAX3 were set to Waardenburg syndrome MONDO:0018094
Review for gene: PAX3 was set to GREEN
gene: PAX3 was marked as current diagnostic
Added comment: Heterozygous loss-of-function variants in this gene cause Waardenburg syndrome, which is characterised by deafness and pigmentation anomalies of eyes, hair, and skin.
Sources: Expert list
Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Marked gene: SOX10 as ready
Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Gene: sox10 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Classified gene: SOX10 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Gene: sox10 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.74 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX10 were set to 9462749; 18348274; 27863645; 24735604; 27240497; 24311220
Phenotypes for gene: SOX10 were set to Waardenburg syndrome type 4C MONDO:0013202
Review for gene: SOX10 was set to GREEN
gene: SOX10 was marked as current diagnostic
Added comment: Heterozygous loss-of-function variants in this gene cause Waardenburg syndrome, which is characterised by deafness and pigmentation anomalies of eyes, hair, and skin.
Sources: Expert list
Hereditary Pigmentary Disorders v0.73 SNAI2 Bryony Thompson gene: SNAI2 was added
gene: SNAI2 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: SNAI2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SNAI2 were set to 12444107; 30936914; 12955764; 24443330
Phenotypes for gene: SNAI2 were set to piebaldism MONDO:0008244; Waardenburg syndrome type 2D MONDO:0012144
Hereditary Pigmentary Disorders v0.72 MITF Bryony Thompson Marked gene: MITF as ready
Hereditary Pigmentary Disorders v0.72 MITF Bryony Thompson Gene: mitf has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.72 MITF Bryony Thompson Classified gene: MITF as Green List (high evidence)
Hereditary Pigmentary Disorders v0.72 MITF Bryony Thompson Gene: mitf has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.71 MITF Bryony Thompson gene: MITF was added
gene: MITF was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565
Phenotypes for gene: MITF were set to Waardenburg syndrome type 2A MONDO:0008671
Review for gene: MITF was set to GREEN
gene: MITF was marked as current diagnostic
Added comment: Heterozygous loss-of-function variants in this gene cause Waardenburg syndrome, which is characterised by deafness and pigmentation anomalies of eyes, hair, and skin.
Sources: Expert list
Hereditary Pigmentary Disorders v0.70 KIT Bryony Thompson Marked gene: KIT as ready
Hereditary Pigmentary Disorders v0.70 KIT Bryony Thompson Gene: kit has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.70 KIT Bryony Thompson Classified gene: KIT as Green List (high evidence)
Hereditary Pigmentary Disorders v0.70 KIT Bryony Thompson Gene: kit has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.69 KIT Bryony Thompson gene: KIT was added
gene: KIT was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIT were set to 1717985; 1384325; 9699740
Phenotypes for gene: KIT were set to piebaldism MONDO:0008244
Review for gene: KIT was set to GREEN
gene: KIT was marked as current diagnostic
Added comment: A disorder of pigmentation characterised by patches of white skin and hair. Loss of function is the mechanism of disease.
Sources: Expert list
Hereditary Pigmentary Disorders v0.68 Bryony Thompson Panel status changed from internal to public
Hereditary Pigmentary Disorders v0.67 XPC Bryony Thompson Marked gene: XPC as ready
Hereditary Pigmentary Disorders v0.67 XPC Bryony Thompson Gene: xpc has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.67 XPC Bryony Thompson Classified gene: XPC as Green List (high evidence)
Hereditary Pigmentary Disorders v0.67 XPC Bryony Thompson Gene: xpc has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.66 XPA Bryony Thompson Marked gene: XPA as ready
Hereditary Pigmentary Disorders v0.66 XPA Bryony Thompson Gene: xpa has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.66 XPA Bryony Thompson Classified gene: XPA as Green List (high evidence)
Hereditary Pigmentary Disorders v0.66 XPA Bryony Thompson Gene: xpa has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.65 WRAP53 Bryony Thompson Marked gene: WRAP53 as ready
Hereditary Pigmentary Disorders v0.65 WRAP53 Bryony Thompson Gene: wrap53 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.65 WRAP53 Bryony Thompson Classified gene: WRAP53 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.65 WRAP53 Bryony Thompson Gene: wrap53 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.64 TINF2 Bryony Thompson Marked gene: TINF2 as ready
Hereditary Pigmentary Disorders v0.64 TINF2 Bryony Thompson Gene: tinf2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.64 TINF2 Bryony Thompson Classified gene: TINF2 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.64 TINF2 Bryony Thompson Gene: tinf2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.63 TERT Bryony Thompson Marked gene: TERT as ready
Hereditary Pigmentary Disorders v0.63 TERT Bryony Thompson Gene: tert has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.63 TERT Bryony Thompson Classified gene: TERT as Green List (high evidence)
Hereditary Pigmentary Disorders v0.63 TERT Bryony Thompson Gene: tert has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.62 TERC Bryony Thompson Marked gene: TERC as ready
Hereditary Pigmentary Disorders v0.62 TERC Bryony Thompson Gene: terc has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.62 TERC Bryony Thompson Classified gene: TERC as Green List (high evidence)
Hereditary Pigmentary Disorders v0.62 TERC Bryony Thompson Gene: terc has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.61 SASH1 Bryony Thompson Marked gene: SASH1 as ready
Hereditary Pigmentary Disorders v0.61 SASH1 Bryony Thompson Gene: sash1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.61 SASH1 Bryony Thompson Classified gene: SASH1 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.61 SASH1 Bryony Thompson Gene: sash1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.60 RTEL1 Bryony Thompson Marked gene: RTEL1 as ready
Hereditary Pigmentary Disorders v0.60 RTEL1 Bryony Thompson Gene: rtel1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.60 RTEL1 Bryony Thompson Classified gene: RTEL1 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.60 RTEL1 Bryony Thompson Gene: rtel1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.59 RPA1 Bryony Thompson Marked gene: RPA1 as ready
Hereditary Pigmentary Disorders v0.59 RPA1 Bryony Thompson Gene: rpa1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.59 RPA1 Bryony Thompson Classified gene: RPA1 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.59 RPA1 Bryony Thompson Gene: rpa1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.58 PSENEN Bryony Thompson Marked gene: PSENEN as ready
Hereditary Pigmentary Disorders v0.58 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.58 PSENEN Bryony Thompson Classified gene: PSENEN as Green List (high evidence)
Hereditary Pigmentary Disorders v0.58 PSENEN Bryony Thompson Gene: psenen has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.57 POLH Bryony Thompson Marked gene: POLH as ready
Hereditary Pigmentary Disorders v0.57 POLH Bryony Thompson Gene: polh has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.57 POLH Bryony Thompson Classified gene: POLH as Green List (high evidence)
Hereditary Pigmentary Disorders v0.57 POLH Bryony Thompson Gene: polh has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.56 POGLUT1 Bryony Thompson Marked gene: POGLUT1 as ready
Hereditary Pigmentary Disorders v0.56 POGLUT1 Bryony Thompson Gene: poglut1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.56 POGLUT1 Bryony Thompson Classified gene: POGLUT1 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.56 POGLUT1 Bryony Thompson Gene: poglut1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.55 POFUT1 Bryony Thompson Marked gene: POFUT1 as ready
Hereditary Pigmentary Disorders v0.55 POFUT1 Bryony Thompson Gene: pofut1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.55 POFUT1 Bryony Thompson Classified gene: POFUT1 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.55 POFUT1 Bryony Thompson Gene: pofut1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.54 PARN Bryony Thompson Marked gene: PARN as ready
Hereditary Pigmentary Disorders v0.54 PARN Bryony Thompson Gene: parn has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.54 PARN Bryony Thompson Classified gene: PARN as Green List (high evidence)
Hereditary Pigmentary Disorders v0.54 PARN Bryony Thompson Gene: parn has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.53 NOP10 Bryony Thompson Marked gene: NOP10 as ready
Hereditary Pigmentary Disorders v0.53 NOP10 Bryony Thompson Gene: nop10 has been classified as Amber List (Moderate Evidence).
Hereditary Pigmentary Disorders v0.53 NOP10 Bryony Thompson Classified gene: NOP10 as Amber List (moderate evidence)
Hereditary Pigmentary Disorders v0.53 NOP10 Bryony Thompson Gene: nop10 has been classified as Amber List (Moderate Evidence).
Hereditary Pigmentary Disorders v0.52 NHP2 Bryony Thompson Marked gene: NHP2 as ready
Hereditary Pigmentary Disorders v0.52 NHP2 Bryony Thompson Gene: nhp2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.52 NHP2 Bryony Thompson Classified gene: NHP2 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.52 NHP2 Bryony Thompson Gene: nhp2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.51 KRT5 Bryony Thompson Marked gene: KRT5 as ready
Hereditary Pigmentary Disorders v0.51 KRT5 Bryony Thompson Gene: krt5 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.51 KRT5 Bryony Thompson Classified gene: KRT5 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.51 KRT5 Bryony Thompson Gene: krt5 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.50 KRT14 Bryony Thompson Marked gene: KRT14 as ready
Hereditary Pigmentary Disorders v0.50 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.50 KRT14 Bryony Thompson Classified gene: KRT14 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.50 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.49 KITLG Bryony Thompson Marked gene: KITLG as ready
Hereditary Pigmentary Disorders v0.49 KITLG Bryony Thompson Gene: kitlg has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.49 KITLG Bryony Thompson Classified gene: KITLG as Green List (high evidence)
Hereditary Pigmentary Disorders v0.49 KITLG Bryony Thompson Gene: kitlg has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.48 IKBKG Bryony Thompson Marked gene: IKBKG as ready
Hereditary Pigmentary Disorders v0.48 IKBKG Bryony Thompson Gene: ikbkg has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.48 IKBKG Bryony Thompson Classified gene: IKBKG as Green List (high evidence)
Hereditary Pigmentary Disorders v0.48 IKBKG Bryony Thompson Gene: ikbkg has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.47 GPNMB Bryony Thompson Marked gene: GPNMB as ready
Hereditary Pigmentary Disorders v0.47 GPNMB Bryony Thompson Gene: gpnmb has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.47 GPNMB Bryony Thompson Classified gene: GPNMB as Green List (high evidence)
Hereditary Pigmentary Disorders v0.47 GPNMB Bryony Thompson Gene: gpnmb has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.46 ERCC5 Bryony Thompson Marked gene: ERCC5 as ready
Hereditary Pigmentary Disorders v0.46 ERCC5 Bryony Thompson Gene: ercc5 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.46 ERCC5 Bryony Thompson Classified gene: ERCC5 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.46 ERCC5 Bryony Thompson Gene: ercc5 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.45 ERCC4 Bryony Thompson Marked gene: ERCC4 as ready
Hereditary Pigmentary Disorders v0.45 ERCC4 Bryony Thompson Gene: ercc4 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.45 ERCC4 Bryony Thompson Classified gene: ERCC4 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.45 ERCC4 Bryony Thompson Gene: ercc4 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.44 ERCC3 Bryony Thompson Marked gene: ERCC3 as ready
Hereditary Pigmentary Disorders v0.44 ERCC3 Bryony Thompson Gene: ercc3 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.44 ERCC3 Bryony Thompson Classified gene: ERCC3 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.44 ERCC3 Bryony Thompson Gene: ercc3 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.43 ERCC2 Bryony Thompson Marked gene: ERCC2 as ready
Hereditary Pigmentary Disorders v0.43 ERCC2 Bryony Thompson Gene: ercc2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.43 ERCC2 Bryony Thompson Classified gene: ERCC2 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.43 ERCC2 Bryony Thompson Gene: ercc2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.42 PRKAR1A Bryony Thompson Marked gene: PRKAR1A as ready
Hereditary Pigmentary Disorders v0.42 PRKAR1A Bryony Thompson Gene: prkar1a has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.42 PRKAR1A Bryony Thompson Classified gene: PRKAR1A as Green List (high evidence)
Hereditary Pigmentary Disorders v0.42 PRKAR1A Bryony Thompson Gene: prkar1a has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.41 PRKAR1A Bryony Thompson gene: PRKAR1A was added
gene: PRKAR1A was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAR1A were set to 10973256; 11115848; 12424709; 21651393
Phenotypes for gene: PRKAR1A were set to Carney complex, type 1 MONDO:0008057
Review for gene: PRKAR1A was set to GREEN
gene: PRKAR1A was marked as current diagnostic
Added comment: Profuse pigmented skin lesions are a feature of the condition.
Sources: Expert list
Hereditary Pigmentary Disorders v0.40 ERCC1 Bryony Thompson Marked gene: ERCC1 as ready
Hereditary Pigmentary Disorders v0.40 ERCC1 Bryony Thompson Gene: ercc1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.40 ERCC1 Bryony Thompson Classified gene: ERCC1 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.40 ERCC1 Bryony Thompson Gene: ercc1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.39 DKC1 Bryony Thompson Marked gene: DKC1 as ready
Hereditary Pigmentary Disorders v0.39 DKC1 Bryony Thompson Gene: dkc1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.39 DKC1 Bryony Thompson Classified gene: DKC1 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.39 DKC1 Bryony Thompson Gene: dkc1 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.38 DDB2 Bryony Thompson Marked gene: DDB2 as ready
Hereditary Pigmentary Disorders v0.38 DDB2 Bryony Thompson Gene: ddb2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.38 DDB2 Bryony Thompson Classified gene: DDB2 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.38 DDB2 Bryony Thompson Gene: ddb2 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.37 ADAR Bryony Thompson Marked gene: ADAR as ready
Hereditary Pigmentary Disorders v0.37 ADAR Bryony Thompson Gene: adar has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.37 ADAR Bryony Thompson Classified gene: ADAR as Green List (high evidence)
Hereditary Pigmentary Disorders v0.37 ADAR Bryony Thompson Gene: adar has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.36 ADAM10 Bryony Thompson Marked gene: ADAM10 as ready
Hereditary Pigmentary Disorders v0.36 ADAM10 Bryony Thompson Gene: adam10 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.36 ADAM10 Bryony Thompson Classified gene: ADAM10 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.36 ADAM10 Bryony Thompson Gene: adam10 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.35 ACD Bryony Thompson Marked gene: ACD as ready
Hereditary Pigmentary Disorders v0.35 ACD Bryony Thompson Gene: acd has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.35 ACD Bryony Thompson Classified gene: ACD as Green List (high evidence)
Hereditary Pigmentary Disorders v0.35 ACD Bryony Thompson Gene: acd has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.34 ABCB6 Bryony Thompson Marked gene: ABCB6 as ready
Hereditary Pigmentary Disorders v0.34 ABCB6 Bryony Thompson Gene: abcb6 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.34 ABCB6 Bryony Thompson Classified gene: ABCB6 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.34 ABCB6 Bryony Thompson Gene: abcb6 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.32 ADAM10 Bryony Thompson gene: ADAM10 was added
gene: ADAM10 was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAM10 were set to 23666529; 30488468
Phenotypes for gene: ADAM10 were set to reticulate acropigmentation of Kitamura MONDO:0014234
Hereditary Pigmentary Disorders v0.31 GPNMB Bryony Thompson gene: GPNMB was added
gene: GPNMB was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPNMB were set to 29336782
Phenotypes for gene: GPNMB were set to amyloidosis, primary localized cutaneous, 3 MONDO:0054765
Hereditary Pigmentary Disorders v0.30 PSENEN Bryony Thompson gene: PSENEN was added
gene: PSENEN was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSENEN were set to 20929727; 21412258; 27900998
Phenotypes for gene: PSENEN were set to Dowling-Degos disease MONDO:0008371
Hereditary Pigmentary Disorders v0.29 POGLUT1 Bryony Thompson gene: POGLUT1 was added
gene: POGLUT1 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POGLUT1 were set to 24387993
Phenotypes for gene: POGLUT1 were set to Dowling-Degos disease MONDO:0008371
Hereditary Pigmentary Disorders v0.28 POFUT1 Bryony Thompson gene: POFUT1 was added
gene: POFUT1 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: POFUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POFUT1 were set to 23684010; 29452367; 25157627
Phenotypes for gene: POFUT1 were set to Dowling-Degos disease MONDO:0008371
Hereditary Pigmentary Disorders v0.27 KRT5 Bryony Thompson gene: KRT5 was added
gene: KRT5 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT5 were set to 16465624
Phenotypes for gene: KRT5 were set to Dowling-Degos disease MONDO:0008371
Hereditary Pigmentary Disorders v0.26 WRAP53 Bryony Thompson gene: WRAP53 was added
gene: WRAP53 was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP53 were set to 21205863; 32303682; 29514627
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita MONDO:0015780
Hereditary Pigmentary Disorders v0.25 TINF2 Bryony Thompson gene: TINF2 was added
gene: TINF2 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TINF2 were set to 18252230; 21477109; 18979121; 18669893; 21199492; 33097095
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 MONDO:0013522
Hereditary Pigmentary Disorders v0.24 TERT Bryony Thompson gene: TERT was added
gene: TERT was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TERT were set to 16247010; 15814878
Phenotypes for gene: TERT were set to Dyskeratosis congenita MONDO:0015780
Hereditary Pigmentary Disorders v0.23 TERC Bryony Thompson gene: TERC was added
gene: TERC was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TERC were set to 11574891
Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1 MONDO:0007485
Hereditary Pigmentary Disorders v0.22 RTEL1 Bryony Thompson gene: RTEL1 was added
gene: RTEL1 was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 20301779; 23329068; 15210109; 23453664; 19461895; 25848748; 25607374
Phenotypes for gene: RTEL1 were set to dyskeratosis congenita MONDO:0015780
Hereditary Pigmentary Disorders v0.21 RPA1 Bryony Thompson gene: RPA1 was added
gene: RPA1 was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030690
Hereditary Pigmentary Disorders v0.20 PARN Bryony Thompson gene: PARN was added
gene: PARN was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PARN were set to 30525901; 25893599; 25848748; 31448843
Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014612
Hereditary Pigmentary Disorders v0.19 NOP10 Bryony Thompson gene: NOP10 was added
gene: NOP10 was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP10 were set to 17507419; 32554502; 32139460
Phenotypes for gene: NOP10 were set to dyskeratosis congenita, autosomal recessive 1 MONDO:0009136
Hereditary Pigmentary Disorders v0.18 NHP2 Bryony Thompson gene: NHP2 was added
gene: NHP2 was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHP2 were set to 18523010; 31985013
Phenotypes for gene: NHP2 were set to dyskeratosis congenita, autosomal recessive 2 MONDO:0013519
Hereditary Pigmentary Disorders v0.17 DKC1 Bryony Thompson gene: DKC1 was added
gene: DKC1 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DKC1 were set to 31269755; 26951492; 29081935; 25940403
Phenotypes for gene: DKC1 were set to dyskeratosis congenita, X-linked MONDO:0010584
Hereditary Pigmentary Disorders v0.16 ACD Bryony Thompson gene: ACD was added
gene: ACD was added to Hereditary Pigmentary Disorders. Sources: Literature
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ACD were set to 27807141; 31515401; 30995915; 27528712; 25205116; 24316971; 30064976; 33446513; 25233904
Phenotypes for gene: ACD were set to ACD-related short telomere syndrome MONDO:0100569
Hereditary Pigmentary Disorders v0.15 KRT14 Bryony Thompson gene: KRT14 was added
gene: KRT14 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 16960809; 18049449
Phenotypes for gene: KRT14 were set to dermatopathia pigmentosa reticularis MONDO:0007445
Hereditary Pigmentary Disorders v0.14 IKBKG Bryony Thompson gene: IKBKG was added
gene: IKBKG was added to Hereditary Pigmentary Disorders. Sources: Expert list
technically challenging tags were added to gene: IKBKG.
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IKBKG were set to 31874111; 35289316
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti MONDO:0010631
Hereditary Pigmentary Disorders v0.13 XPC Bryony Thompson gene: XPC was added
gene: XPC was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPC were set to 10447254
Phenotypes for gene: XPC were set to xeroderma pigmentosum group C MONDO:0010211
Hereditary Pigmentary Disorders v0.12 POLH Bryony Thompson gene: POLH was added
gene: POLH was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLH were set to 10385124; 10398605
Phenotypes for gene: POLH were set to Xeroderma pigmentosum variant type MONDO:0010214
Hereditary Pigmentary Disorders v0.11 ERCC5 Bryony Thompson gene: ERCC5 was added
gene: ERCC5 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 30838033; 24700531
Phenotypes for gene: ERCC5 were set to xeroderma pigmentosum group G MONDO:0010216
Hereditary Pigmentary Disorders v0.10 ERCC4 Bryony Thompson gene: ERCC4 was added
gene: ERCC4 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 23623386; 8797827; 23623389; 17183314; 29105242
Phenotypes for gene: ERCC4 were set to xeroderma pigmentosum group F MONDO:0010215
Hereditary Pigmentary Disorders v0.9 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 2167179; 10447254; 16947863; 9012405; 32557569; 27004399
Phenotypes for gene: ERCC3 were set to xeroderma pigmentosum group B MONDO:0012531
Hereditary Pigmentary Disorders v0.8 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 7849702; 9758621; 11443545; 33733458
Phenotypes for gene: ERCC2 were set to xeroderma pigmentosum group D MONDO:0010212
Hereditary Pigmentary Disorders v0.7 ERCC1 Bryony Thompson gene: ERCC1 was added
gene: ERCC1 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086; 33315086
Phenotypes for gene: ERCC1 were set to cerebrooculofacioskeletal syndrome 4 MONDO:0012554; Xeroderma pigmentosum
Hereditary Pigmentary Disorders v0.6 DDB2 Bryony Thompson gene: DDB2 was added
gene: DDB2 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDB2 were set to 33276309; 32530099; 32239545; 32228487
Phenotypes for gene: DDB2 were set to xeroderma pigmentosum group E MONDO:0010213
Hereditary Pigmentary Disorders v0.5 XPA Bryony Thompson gene: XPA was added
gene: XPA was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 2234061; 1372102
Phenotypes for gene: XPA were set to xeroderma pigmentosum group A MONDO:0010210
Hereditary Pigmentary Disorders v0.4 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAR were set to 28561207; 25982145; 24262145; 37770123; 32911246; 18705826
Phenotypes for gene: ADAR were set to ADAR-related type 1 interferonopathy MONDO:0700261
Hereditary Pigmentary Disorders v0.3 KITLG Bryony Thompson gene: KITLG was added
gene: KITLG was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KITLG were set to 19375057; 21368769
Phenotypes for gene: KITLG were set to hyperpigmentation with or without hypopigmentation, familial progressive MONDO:0007771
Mode of pathogenicity for gene: KITLG was set to Other
Hereditary Pigmentary Disorders v0.2 SASH1 Bryony Thompson gene: SASH1 was added
gene: SASH1 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: SASH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SASH1 were set to 23333244; 27885802; 32981204
Phenotypes for gene: SASH1 were set to dyschromatosis universalis hereditaria 1 MONDO:0024524
Hereditary Pigmentary Disorders v0.1 ABCB6 Bryony Thompson gene: ABCB6 was added
gene: ABCB6 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCB6 were set to 23519333; 24224009; 24498303; 25288164; 35024399; 30430618
Phenotypes for gene: ABCB6 were set to dyschromatosis universalis hereditaria 3 MONDO:0014169
Hereditary Pigmentary Disorders v0.0 Bryony Thompson Added Panel Hereditary Pigmentary Disorders
Set list of related panels to Abnormality of skin pigmentation; HP:0001000
Set panel types to: Royal Melbourne Hospital; Rare Disease