PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
213 actions
Hereditary Pigmentary Disorders v1.5 ABCB6 Katrina Bell Deleted their review
Hereditary Pigmentary Disorders v1.5 ABCB6 Katrina Bell Deleted their comment
Hereditary Pigmentary Disorders v1.5 KITLG Zornitza Stark Publications for gene: KITLG were set to 19375057; 21368769
Hereditary Pigmentary Disorders v1.4 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Pigmentary Disorders v1.3 ABCB6 Chirag Patel commented on gene: ABCB6
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