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Autonomic neuropathy v0.51 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Autonomic neuropathy v0.50 DST Zornitza Stark Publications for gene: DST were set to
Autonomic neuropathy v0.49 DST Zornitza Stark Classified gene: DST as Green List (high evidence)
Autonomic neuropathy v0.49 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Autonomic neuropathy v0.48 DST Alison Yeung edited their review of gene: DST: Added comment: Since first family published in 2012, there have been two other families published. This is a green gene in the hereditary neuropathy panel.; Changed rating: GREEN; Changed publications: 30371979, 28468842
Autonomic neuropathy v0.48 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from OMIM# 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Autonomic neuropathy v0.47 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Autonomic neuropathy v0.46 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
Autonomic neuropathy v0.46 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Autonomic neuropathy v0.45 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Autonomic neuropathy v0.44 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
Autonomic neuropathy v0.44 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 to Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Autonomic neuropathy v0.43 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Autonomic neuropathy v0.42 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 11179021, 17644305; Phenotypes: Dysautonomia, familial, MIM# 223900, Riley-Day syndrome MONDO:0009131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autonomic neuropathy v0.42 LMNB1 Zornitza Stark Tag SV/CNV tag was added to gene: LMNB1.
Autonomic neuropathy v0.42 LIFR Alison Yeung Marked gene: LIFR as ready
Autonomic neuropathy v0.42 LIFR Alison Yeung Gene: lifr has been classified as Green List (High Evidence).
Autonomic neuropathy v0.42 LIFR Alison Yeung Classified gene: LIFR as Green List (high evidence)
Autonomic neuropathy v0.42 LIFR Alison Yeung Gene: lifr has been classified as Green List (High Evidence).
Autonomic neuropathy v0.41 LIFR Alison Yeung gene: LIFR was added
gene: LIFR was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to OMIM# 601559 STUVE-WIEDEMANN SYNDROME; STWS
gene: LIFR was marked as current diagnostic
Added comment: Dysautonomia a common feature
Sources: Literature
Autonomic neuropathy v0.39 DBH Alison Yeung Marked gene: DBH as ready
Autonomic neuropathy v0.39 DBH Alison Yeung Gene: dbh has been classified as Green List (High Evidence).
Autonomic neuropathy v0.39 DBH Alison Yeung Classified gene: DBH as Green List (high evidence)
Autonomic neuropathy v0.39 DBH Alison Yeung Gene: dbh has been classified as Green List (High Evidence).
Autonomic neuropathy v0.38 DBH Alison Yeung gene: DBH was added
gene: DBH was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBH were set to 21209083; 11857564
Phenotypes for gene: DBH were set to OMIM# 223360 ORTHOSTATIC HYPOTENSION 1; ORTHYP1
Review for gene: DBH was set to GREEN
Added comment: Two unrelated families reported and functional studies
Sources: Literature
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Marked gene: LMNB1 as ready
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Gene: lmnb1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Classified gene: LMNB1 as Green List (high evidence)
Autonomic neuropathy v0.37 LMNB1 Alison Yeung Gene: lmnb1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.36 LMNB1 Alison Yeung gene: LMNB1 was added
gene: LMNB1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMNB1 were set to OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD
Review for gene: LMNB1 was set to GREEN
gene: LMNB1 was marked as current diagnostic
Added comment: Autonomic dysfunction a common feature
Sources: Literature
Autonomic neuropathy v0.35 MADD Alison Yeung Marked gene: MADD as ready
Autonomic neuropathy v0.35 MADD Alison Yeung Gene: madd has been classified as Green List (High Evidence).
Autonomic neuropathy v0.35 MADD Alison Yeung Classified gene: MADD as Green List (high evidence)
Autonomic neuropathy v0.35 MADD Alison Yeung Gene: madd has been classified as Green List (High Evidence).
Autonomic neuropathy v0.34 MADD Alison Yeung gene: MADD was added
gene: MADD was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MADD were set to OMIM# 619004 DEEAH SYNDROME; DEEAH
Review for gene: MADD was set to GREEN
gene: MADD was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Marked gene: PHOX2B as ready
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Gene: phox2b has been classified as Green List (High Evidence).
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Classified gene: PHOX2B as Green List (high evidence)
Autonomic neuropathy v0.33 PHOX2B Alison Yeung Gene: phox2b has been classified as Green List (High Evidence).
Autonomic neuropathy v0.32 PHOX2B Alison Yeung gene: PHOX2B was added
gene: PHOX2B was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHOX2B were set to OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS
Review for gene: PHOX2B was set to GREEN
gene: PHOX2B was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.31 SCN9A Alison Yeung Marked gene: SCN9A as ready
Autonomic neuropathy v0.31 SCN9A Alison Yeung Gene: scn9a has been classified as Green List (High Evidence).
Autonomic neuropathy v0.31 SCN9A Alison Yeung Classified gene: SCN9A as Green List (high evidence)
Autonomic neuropathy v0.31 SCN9A Alison Yeung Gene: scn9a has been classified as Green List (High Evidence).
Autonomic neuropathy v0.30 SCN9A Alison Yeung gene: SCN9A was added
gene: SCN9A was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 23596073
Phenotypes for gene: SCN9A were set to OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D,
Review for gene: SCN9A was set to GREEN
Added comment: Two unrelated Japanese families reported
Sources: Literature
Autonomic neuropathy v0.29 GMPPA Alison Yeung Marked gene: GMPPA as ready
Autonomic neuropathy v0.29 GMPPA Alison Yeung Gene: gmppa has been classified as Green List (High Evidence).
Autonomic neuropathy v0.29 GMPPA Alison Yeung Classified gene: GMPPA as Green List (high evidence)
Autonomic neuropathy v0.29 GMPPA Alison Yeung Gene: gmppa has been classified as Green List (High Evidence).
Autonomic neuropathy v0.28 GMPPA Alison Yeung gene: GMPPA was added
gene: GMPPA was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR
Review for gene: GMPPA was set to GREEN
gene: GMPPA was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.27 AAAS Alison Yeung Marked gene: AAAS as ready
Autonomic neuropathy v0.27 AAAS Alison Yeung Gene: aaas has been classified as Green List (High Evidence).
Autonomic neuropathy v0.27 AAAS Alison Yeung Classified gene: AAAS as Green List (high evidence)
Autonomic neuropathy v0.27 AAAS Alison Yeung Gene: aaas has been classified as Green List (High Evidence).
Autonomic neuropathy v0.26 AAAS Alison Yeung gene: AAAS was added
gene: AAAS was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS
Review for gene: AAAS was set to GREEN
gene: AAAS was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.25 WNK1 Alison Yeung Marked gene: WNK1 as ready
Autonomic neuropathy v0.25 WNK1 Alison Yeung Gene: wnk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.25 WNK1 Alison Yeung Classified gene: WNK1 as Green List (high evidence)
Autonomic neuropathy v0.25 WNK1 Alison Yeung Gene: wnk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.24 WNK1 Alison Yeung gene: WNK1 was added
gene: WNK1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to # 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
Review for gene: WNK1 was set to GREEN
gene: WNK1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.23 ATL3 Alison Yeung Phenotypes for gene: ATL3 were changed from OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A to # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F
Autonomic neuropathy v0.22 ATL3 Alison Yeung Classified gene: ATL3 as Red List (low evidence)
Autonomic neuropathy v0.22 ATL3 Alison Yeung Gene: atl3 has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.21 ATL3 Alison Yeung commented on gene: ATL3: Incorrect OMIM phenotype entered in previous review. ATL3 variants not associated with autonomic dysfunction.
Autonomic neuropathy v0.21 ATL3 Alison Yeung reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF, HSN1F; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Autonomic neuropathy v0.21 ATL3 Alison Yeung Deleted their review
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Marked gene: SPTLC2 as ready
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Gene: sptlc2 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Classified gene: SPTLC2 as Green List (high evidence)
Autonomic neuropathy v0.21 SPTLC2 Alison Yeung Gene: sptlc2 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.20 SPTLC2 Alison Yeung gene: SPTLC2 was added
gene: SPTLC2 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to OMIM# 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
Review for gene: SPTLC2 was set to GREEN
gene: SPTLC2 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.19 ATL3 Alison Yeung Marked gene: ATL3 as ready
Autonomic neuropathy v0.19 ATL3 Alison Yeung Gene: atl3 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.19 ATL3 Alison Yeung Classified gene: ATL3 as Green List (high evidence)
Autonomic neuropathy v0.19 ATL3 Alison Yeung Gene: atl3 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.18 ATL3 Alison Yeung gene: ATL3 was added
gene: ATL3 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: ATL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATL3 were set to OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
Review for gene: ATL3 was set to GREEN
gene: ATL3 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Marked gene: PRDM12 as ready
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Gene: prdm12 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Classified gene: PRDM12 as Green List (high evidence)
Autonomic neuropathy v0.17 PRDM12 Alison Yeung Gene: prdm12 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.16 PRDM12 Alison Yeung gene: PRDM12 was added
gene: PRDM12 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8
Review for gene: PRDM12 was set to GREEN
gene: PRDM12 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.15 ELP1 Alison Yeung Classified gene: ELP1 as Green List (high evidence)
Autonomic neuropathy v0.15 ELP1 Alison Yeung Gene: elp1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.14 ELP1 Alison Yeung Marked gene: ELP1 as ready
Autonomic neuropathy v0.14 ELP1 Alison Yeung Gene: elp1 has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.14 ELP1 Alison Yeung gene: ELP1 was added
gene: ELP1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Review for gene: ELP1 was set to GREEN
gene: ELP1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Marked gene: SPTLC1 as ready
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Gene: sptlc1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Classified gene: SPTLC1 as Green List (high evidence)
Autonomic neuropathy v0.13 SPTLC1 Alison Yeung Gene: sptlc1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.12 SPTLC1 Alison Yeung gene: SPTLC1 was added
gene: SPTLC1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC1 were set to OMIM# 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
Review for gene: SPTLC1 was set to GREEN
gene: SPTLC1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.11 DST Alison Yeung Marked gene: DST as ready
Autonomic neuropathy v0.11 DST Alison Yeung Added comment: Comment when marking as ready: Single family reported 2012
Autonomic neuropathy v0.11 DST Alison Yeung Gene: dst has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.11 DST Alison Yeung Classified gene: DST as Red List (low evidence)
Autonomic neuropathy v0.11 DST Alison Yeung Gene: dst has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.10 DST Alison Yeung gene: DST was added
gene: DST was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DST were set to OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6
Review for gene: DST was set to AMBER
gene: DST was marked as current diagnostic
Added comment: single consanguineous family reported
Sources: Literature
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Marked gene: RETREG1 as ready
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Gene: retreg1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Classified gene: RETREG1 as Green List (high evidence)
Autonomic neuropathy v0.9 RETREG1 Alison Yeung Gene: retreg1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.8 RETREG1 Alison Yeung gene: RETREG1 was added
gene: RETREG1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to OMIM# 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
Review for gene: RETREG1 was set to GREEN
gene: RETREG1 was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.7 SCN11A Alison Yeung Classified gene: SCN11A as Green List (high evidence)
Autonomic neuropathy v0.7 SCN11A Alison Yeung Gene: scn11a has been classified as Green List (High Evidence).
Autonomic neuropathy v0.6 SCN11A Alison Yeung Marked gene: SCN11A as ready
Autonomic neuropathy v0.6 SCN11A Alison Yeung Gene: scn11a has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.6 SCN11A Alison Yeung gene: SCN11A was added
gene: SCN11A was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN11A were set to OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7
Review for gene: SCN11A was set to GREEN
gene: SCN11A was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Marked gene: NTRK1 as ready
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Gene: ntrk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Classified gene: NTRK1 as Green List (high evidence)
Autonomic neuropathy v0.5 NTRK1 Alison Yeung Gene: ntrk1 has been classified as Green List (High Evidence).
Autonomic neuropathy v0.4 NTRK1 Alison Yeung gene: NTRK1 was added
gene: NTRK1 was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to OMIM# 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1
Review for gene: NTRK1 was set to GREEN
Added comment: Sources: Literature
Autonomic neuropathy v0.3 NGF Alison Yeung Classified gene: NGF as Green List (high evidence)
Autonomic neuropathy v0.3 NGF Alison Yeung Gene: ngf has been classified as Green List (High Evidence).
Autonomic neuropathy v0.2 NGF Alison Yeung gene: NGF was added
gene: NGF was added to Autonomic neuropathy. Sources: Literature
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to OMIM #608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5
Review for gene: NGF was set to GREEN
gene: NGF was marked as current diagnostic
Added comment: Sources: Literature
Autonomic neuropathy v0.1 Alison Yeung Panel status changed from internal to public
Autonomic neuropathy v0.0 Alison Yeung Added Panel Autonomic neuropathy
Set panel types to: Victorian Clinical Genetics Services; Rare Disease