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Pain syndromes v0.34 TRPV1 Zornitza Stark Marked gene: TRPV1 as ready
Pain syndromes v0.34 TRPV1 Zornitza Stark Gene: trpv1 has been classified as Red List (Low Evidence).
Pain syndromes v0.34 TRPV1 Zornitza Stark Classified gene: TRPV1 as Red List (low evidence)
Pain syndromes v0.34 TRPV1 Zornitza Stark Gene: trpv1 has been classified as Red List (Low Evidence).
Pain syndromes v0.33 TRPV1 Krithika Murali changed review comment from: PMID: 36454632 Katz et al 2023 describe two individuals from a consanguineous Palestinian Arab family with elevated heat pain and cold pain threshold with insensitivity to application of capsaicin to mouth and skin. No obvious associated health issues reported in this 11 year old and 1 year old individual secondary to this. Homozygous TPRV1 c.993C>G; p.N331K variant identified in both individuals (absent from gnomAD, highly conserved). Variant cell lines demonstrated loss of channel function with normal expression. In addition, homozygous PROKR1 variant identified in both affected individuals with potential for contribution to phenotype.

PMID: 36472910 - knockin mouse models with missense TRPV1 variant (K710N) also showed reduced capsaicin-induced calcium influx in dorsal root ganglion neurons.
Sources: Literature; to: PMID: 36454632 Katz et al 2023 describe two individuals from a consanguineous Palestinian Arab family with elevated heat pain and cold pain threshold with insensitivity to application of capsaicin to mouth and skin. No obvious associated health issues reported in this 11 year old and 1 year old individual secondary to this. Homozygous TPRV1 c.993C>G; p.N331K variant identified in both individuals (absent from gnomAD, highly conserved). Variant cell lines demonstrated loss of channel function with normal expression. In addition, homozygous PROKR1 gene variant identified in both affected individuals with potential for contribution to phenotype.

PMID: 36472910 - knockin mouse models with missense TRPV1 variant (K710N) also showed reduced capsaicin-induced calcium influx in dorsal root ganglion neurons.
Sources: Literature
Pain syndromes v0.33 TRPV1 Krithika Murali gene: TRPV1 was added
gene: TRPV1 was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: TRPV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV1 were set to PMID: 36454632; PMID: 36472910
Phenotypes for gene: TRPV1 were set to Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459
Review for gene: TRPV1 was set to RED
Added comment: PMID: 36454632 Katz et al 2023 describe two individuals from a consanguineous Palestinian Arab family with elevated heat pain and cold pain threshold with insensitivity to application of capsaicin to mouth and skin. No obvious associated health issues reported in this 11 year old and 1 year old individual secondary to this. Homozygous TPRV1 c.993C>G; p.N331K variant identified in both individuals (absent from gnomAD, highly conserved). Variant cell lines demonstrated loss of channel function with normal expression. In addition, homozygous PROKR1 variant identified in both affected individuals with potential for contribution to phenotype.

PMID: 36472910 - knockin mouse models with missense TRPV1 variant (K710N) also showed reduced capsaicin-induced calcium influx in dorsal root ganglion neurons.
Sources: Literature
Pain syndromes v0.33 Zornitza Stark HPO terms changed from to Pain, HP:0012531
List of related panels changed from to Pain; HP:0012531
Pain syndromes v0.32 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Pain syndromes v0.32 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Pain syndromes v0.32 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548 to Episodic pain syndrome, familial, 3, MIM# 615552
Pain syndromes v0.31 SCN11A Zornitza Stark Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915
Pain syndromes v0.30 SCN11A Zornitza Stark Mode of pathogenicity for gene: SCN11A was changed from to Other
Pain syndromes v0.29 SCN11A Zornitza Stark reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic pain syndrome, familial, 3, MIM# 615552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.29 SCN11A Zornitza Stark Mode of inheritance for gene: SCN11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.28 SCN11A Teresa Zhao reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25791876, PMID: 30554136; Phenotypes: Familial episodic pain syndrome 3 (MIM#615552), Hereditary sensory and autonomic neuropathy, type VII (MIM#615548); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pain syndromes v0.28 PLEKHN1 Zornitza Stark Marked gene: PLEKHN1 as ready
Pain syndromes v0.28 PLEKHN1 Zornitza Stark Gene: plekhn1 has been classified as Red List (Low Evidence).
Pain syndromes v0.28 PLEKHN1 Seb Lunke gene: PLEKHN1 was added
gene: PLEKHN1 was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHN1 were set to 33884296
Phenotypes for gene: PLEKHN1 were set to Sensory Neuropathy
Added comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation
Sources: Literature
Pain syndromes v0.27 SMPDL3A Seb Lunke Marked gene: SMPDL3A as ready
Pain syndromes v0.27 SMPDL3A Seb Lunke Gene: smpdl3a has been classified as Red List (Low Evidence).
Pain syndromes v0.27 SMPDL3A Seb Lunke gene: SMPDL3A was added
gene: SMPDL3A was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: SMPDL3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPDL3A were set to 33884296
Phenotypes for gene: SMPDL3A were set to Sensory Neuropathy
Review for gene: SMPDL3A was set to RED
Added comment: Hom missense variant in twin sisters with deverely reduced pain and temperature sensation
Sources: Literature
Pain syndromes v0.26 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Pain syndromes v0.26 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Pain syndromes v0.26 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Pain syndromes v0.25 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336
Pain syndromes v0.24 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.24 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Pain syndromes v0.24 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Pain syndromes v0.24 SCN10A Zornitza Stark Phenotypes for gene: SCN10A were changed from Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 to Small fibre neuropathy; Episodic pain syndrome, familial, 2, MIM# 615551
Pain syndromes v0.23 SCN10A Zornitza Stark Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307
Pain syndromes v0.22 SCN10A Zornitza Stark reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.22 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Pain syndromes v0.22 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Pain syndromes v0.22 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.21 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.21 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Pain syndromes v0.21 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Pain syndromes v0.21 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Pain syndromes v0.20 RAB7A Zornitza Stark Mode of inheritance for gene: RAB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.19 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.19 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Pain syndromes v0.19 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Pain syndromes v0.19 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Pain syndromes v0.18 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867
Pain syndromes v0.17 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.16 DST Bryony Thompson Marked gene: DST as ready
Pain syndromes v0.16 DST Bryony Thompson Gene: dst has been classified as Green List (High Evidence).
Pain syndromes v0.16 DST Bryony Thompson Classified gene: DST as Green List (high evidence)
Pain syndromes v0.16 DST Bryony Thompson Gene: dst has been classified as Green List (High Evidence).
Pain syndromes v0.15 DST Bryony Thompson gene: DST was added
gene: DST was added to Pain syndromes. Sources: Other
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 28468842; 32528525; 22522446; 30371979
Phenotypes for gene: DST were set to Neuropathy, hereditary sensory and autonomic, type VI MIM#614653
Review for gene: DST was set to GREEN
gene: DST was marked as current diagnostic
Added comment: At least 4 unrelated families reported with pain insensitivity as a feature of the condition.
Sources: Other
Pain syndromes v0.14 FAAHP1 Bryony Thompson Marked gene: FAAHP1 as ready
Pain syndromes v0.14 FAAHP1 Bryony Thompson Gene: faahp1 has been classified as Red List (Low Evidence).
Pain syndromes v0.14 FAAHP1 Bryony Thompson Mode of inheritance for gene: FAAHP1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Pain syndromes v0.13 FAAHP1 Bryony Thompson Classified gene: FAAHP1 as Red List (low evidence)
Pain syndromes v0.13 FAAHP1 Bryony Thompson Gene: faahp1 has been classified as Red List (Low Evidence).
Pain syndromes v0.12 FAAHP1 Bryony Thompson reviewed gene: FAAHP1: Rating: RED; Mode of pathogenicity: None; Publications: 30929760; Phenotypes: pain insensitivity; Mode of inheritance: Unknown
Pain syndromes v0.12 CLTCL1 Bryony Thompson Marked gene: CLTCL1 as ready
Pain syndromes v0.12 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.12 CLTCL1 Bryony Thompson Publications for gene: CLTCL1 were set to 26068709
Pain syndromes v0.11 CLTCL1 Bryony Thompson Classified gene: CLTCL1 as Amber List (moderate evidence)
Pain syndromes v0.11 CLTCL1 Bryony Thompson Gene: cltcl1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.10 CLTCL1 Bryony Thompson reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26068709, 29402896; Phenotypes: pain insensitivity, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.10 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Pain syndromes v0.9 NMNAT2 Bryony Thompson Publications for gene: NMNAT2 were set to 31132363
Pain syndromes v0.8 NMNAT2 Bryony Thompson Marked gene: NMNAT2 as ready
Pain syndromes v0.8 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.8 NMNAT2 Bryony Thompson Classified gene: NMNAT2 as Amber List (moderate evidence)
Pain syndromes v0.8 NMNAT2 Bryony Thompson Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.7 NMNAT2 Bryony Thompson reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31132363, 25271157, 20126265; Phenotypes: Polyneuropathy with erythromelalgia; Mode of inheritance: None
Pain syndromes v0.7 CCT5 Bryony Thompson Marked gene: CCT5 as ready
Pain syndromes v0.7 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.7 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Pain syndromes v0.7 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.6 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891, 12874111; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.6 NAGLU Bryony Thompson Marked gene: NAGLU as ready
Pain syndromes v0.6 NAGLU Bryony Thompson Gene: naglu has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.6 NAGLU Bryony Thompson reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: None; Publications: 25818867; Phenotypes: ?Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.6 MPV17 Bryony Thompson Marked gene: MPV17 as ready
Pain syndromes v0.6 MPV17 Bryony Thompson Gene: mpv17 has been classified as Red List (Low Evidence).
Pain syndromes v0.6 MPV17 Bryony Thompson Classified gene: MPV17 as Red List (low evidence)
Pain syndromes v0.6 MPV17 Bryony Thompson Gene: mpv17 has been classified as Red List (Low Evidence).
Pain syndromes v0.5 MPV17 Bryony Thompson reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: 22508010, 29282788; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.5 TRPA1 Bryony Thompson Marked gene: TRPA1 as ready
Pain syndromes v0.5 TRPA1 Bryony Thompson Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.5 TRPA1 Bryony Thompson Classified gene: TRPA1 as Amber List (moderate evidence)
Pain syndromes v0.5 TRPA1 Bryony Thompson Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Pain syndromes v0.4 TRPA1 Bryony Thompson reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28436534, 20547126; Phenotypes: ?Episodic pain syndrome, familial, 1 MIM#615040, Cramp-fasciculation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.4 TRPA1 Zornitza Stark reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20547126, 16564016, 21468319, 28314413, 24778270, 24564660, 20718100; Phenotypes: Episodic pain syndrome, familial, 1, MIM# 615040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.4 Zornitza Stark Panel status changed from deleted to public
Pain syndromes v0.3 NMNAT2 Zornitza Stark Source Expert Review Red was added to NMNAT2.
Source Research was added to NMNAT2.
Added phenotypes polyneuropathy; erythromelalgia for gene: NMNAT2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pain syndromes v0.3 FAAHP1 Zornitza Stark Source Literature was added to FAAHP1.
Added phenotypes Pain insensitivity for gene: FAAHP1
Pain syndromes v0.3 CLTCL1 Zornitza Stark Source Review was added to CLTCL1.
Source Literaure was added to CLTCL1.
Added phenotypes Congenital insensitivity to pain for gene: CLTCL1
Pain syndromes v0.3 CCT5 Zornitza Stark Source Expert Review Red was added to CCT5.
Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia for gene: CCT5
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pain syndromes v0.3 NAGLU Zornitza Stark Source Expert Review Amber was added to NAGLU.
Added phenotypes Late-onset painful sensory neuropathy, AD; Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920 for gene: NAGLU
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pain syndromes v0.3 MPV17 Zornitza Stark Source Expert Review Amber was added to MPV17.
Added phenotypes Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity for gene: MPV17
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pain syndromes v0.3 WNK1 Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type II, 201300; HSAN 2; Hereditary sensory and autonomic neuropathy type IIA for gene: WNK1
Pain syndromes v0.3 TTR Zornitza Stark Added phenotypes Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430 for gene: TTR
Pain syndromes v0.3 TRPA1 Zornitza Stark Added phenotypes Familial episodic pain syndrome type I; Episodic pain syndrome, familial, 615040 for gene: TRPA1
Pain syndromes v0.3 SPTLC2 Zornitza Stark Added phenotypes Hereditary sensory and autonomic neuropathy type IC; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Pain syndromes v0.3 SPTLC1 Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA for gene: SPTLC1
Pain syndromes v0.3 SEPT9 Zornitza Stark Added phenotypes Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy for gene: SEPT9
Pain syndromes v0.3 SCN9A Zornitza Stark Added phenotypes HSAN2D, autosomal recessive, AR, 243000; Erythermalgia, primary, AD, 133020; Insensitivity to pain, congenital, AR, 243000; Small fiber neuropathy, AD,133020; Paroxysmal extreme pain disorder, AD, 167400 for gene: SCN9A
Pain syndromes v0.3 SCN11A Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552; Hereditary sensory and autonomic neuropathy type VII; Familial episodic pain syndrome for gene: SCN11A
Pain syndromes v0.3 SCN10A Zornitza Stark Added phenotypes Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 for gene: SCN10A
Pain syndromes v0.3 RETREG1 Zornitza Stark Added phenotypes Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B for gene: RETREG1
Pain syndromes v0.3 RAB7A Zornitza Stark Added phenotypes HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
Pain syndromes v0.3 PRNP Zornitza Stark Added phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440 for gene: PRNP
Pain syndromes v0.3 PRDM12 Zornitza Stark Added phenotypes insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII for gene: PRDM12
Pain syndromes v0.3 NTRK1 Zornitza Stark Added phenotypes HSAN 4; Insensitivity to pain, congenital, with anhidrosis, 256800; Hereditary sensory neuropathy type IV for gene: NTRK1
Pain syndromes v0.3 NGF Zornitza Stark Added phenotypes Neuropathy, hereditary sensory and autonomic, type V, 608654; HSAN 5; Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory neuropathy type V for gene: NGF
Pain syndromes v0.3 KIF1A Zornitza Stark Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Pain syndromes v0.3 GLA Zornitza Stark Added phenotypes Fabry disease, 301500 for gene: GLA
Pain syndromes v0.3 ELP1 Zornitza Stark Added phenotypes Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900 for gene: ELP1
Pain syndromes v0.3 ATL3 Zornitza Stark Added phenotypes Neuropathy, hereditary sensory, type IF, 615632; HSN1F for gene: ATL3
Pain syndromes v0.3 ATL1 Zornitza Stark Added phenotypes HSN1D; Neuropathy, hereditary sensory, type ID, 613708; Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy for gene: ATL1
Pain syndromes v0.2 Zornitza Stark Panel status changed from public to deleted
Pain syndromes v0.1 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pain syndromes v0.0 NMNAT2 Zornitza Stark gene: NMNAT2 was added
gene: NMNAT2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Pain syndromes v0.0 FAAHP1 Zornitza Stark gene: FAAHP1 was added
gene: FAAHP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAHP1 were set to 30929760
Phenotypes for gene: FAAHP1 were set to Pain insensitivity
Pain syndromes v0.0 CLTCL1 Zornitza Stark gene: CLTCL1 was added
gene: CLTCL1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CLTCL1 was set to Unknown
Publications for gene: CLTCL1 were set to 26068709
Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain
Pain syndromes v0.0 CCT5 Zornitza Stark gene: CCT5 was added
gene: CCT5 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 12874111; 16399879; 25124038; 28623285
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia
Pain syndromes v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 25818867; 12202988
Phenotypes for gene: NAGLU were set to Late-onset painful sensory neuropathy, AD; Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
Pain syndromes v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 16582910; 16909392; 23714749; 22508010; 185990; 11431741
Phenotypes for gene: MPV17 were set to Navajo neurohepatopathy; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Pain insensitivity
Pain syndromes v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 15911806; 16636245; 16946995; 21625937; 15455397; 18521183; 15060842
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; HSAN 2; Hereditary sensory and autonomic neuropathy type IIA
Pain syndromes v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 14640030; 26800456; 12771253; 30120737; 16433699; 25069833; 30878017; 31111153; 31118583; 28678039; 19365058; 31131842; 8309582; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001; 3011930
Phenotypes for gene: TTR were set to Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430
Pain syndromes v0.0 TRPA1 Zornitza Stark gene: TRPA1 was added
gene: TRPA1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPA1 were set to 28314413; 21468319; 24778270; 20718100; 16564016; 28436534; 24564660; 20547126
Phenotypes for gene: TRPA1 were set to Familial episodic pain syndrome type I; Episodic pain syndrome, familial, 615040
Pain syndromes v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC2 were set to 26681808; 23658386; 12207934; 27025386; 20920666
Phenotypes for gene: SPTLC2 were set to Hereditary sensory and autonomic neuropathy type IC; HSAN 1; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Pain syndromes v0.0 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, 162400; HSAN 1; Hereditary sensory neuropathy type IA
Pain syndromes v0.0 SEPT9 Zornitza Stark gene: SEPT9 was added
gene: SEPT9 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT9 were set to 21556032; 16186812; 19451530
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy
Pain syndromes v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 16392115; 17167479; 17470132; 17145499; 17679678; 25316021; 15958509; 28665811; 23596073; 24817410; 28235406; 16216943; 24813307; 14985375; 1536168
Phenotypes for gene: SCN9A were set to HSAN2D, autosomal recessive, AR, 243000; Erythermalgia, primary, AD, 133020; Insensitivity to pain, congenital, AR, 243000; Small fiber neuropathy, AD,133020; Paroxysmal extreme pain disorder, AD, 167400
Pain syndromes v0.0 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915
Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552; Hereditary sensory and autonomic neuropathy type VII; Familial episodic pain syndrome
Pain syndromes v0.0 SCN10A Zornitza Stark gene: SCN10A was added
gene: SCN10A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307
Phenotypes for gene: SCN10A were set to Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2
Pain syndromes v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336
Phenotypes for gene: RETREG1 were set to Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B
Pain syndromes v0.0 RAB7A Zornitza Stark gene: RAB7A was added
gene: RAB7A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB7A were set to 17060578; 15455439; 12545426
Phenotypes for gene: RAB7A were set to HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882
Pain syndromes v0.0 PRNP Zornitza Stark gene: PRNP was added
gene: PRNP was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 27716661; 24224623; 25287017; 26768678
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related, 137440
Pain syndromes v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867
Phenotypes for gene: PRDM12 were set to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII
Pain syndromes v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTRK1 were set to 11668614; 8696348; 18077166
Phenotypes for gene: NTRK1 were set to HSAN 4; Insensitivity to pain, congenital, with anhidrosis, 256800; Hereditary sensory neuropathy type IV
Pain syndromes v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 26562335; 20978020; 14976160; 15131306
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; HSAN 5; Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory neuropathy type V
Pain syndromes v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 25265257; 21820098
Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213
Pain syndromes v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease, 301500
Pain syndromes v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 17985250; 11179021; 11179008; 8102296
Phenotypes for gene: ELP1 were set to Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900
Pain syndromes v0.0 ATL3 Zornitza Stark gene: ATL3 was added
gene: ATL3 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL3 were set to 24459106; 24736309
Phenotypes for gene: ATL3 were set to Neuropathy, hereditary sensory, type IF, 615632; HSN1F
Pain syndromes v0.0 ATL1 Zornitza Stark gene: ATL1 was added
gene: ATL1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 21194679; 22340599
Phenotypes for gene: ATL1 were set to HSN1D; Neuropathy, hereditary sensory, type ID, 613708; Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy
Pain syndromes v0.0 Zornitza Stark Added panel Pain syndromes