Activity

Date Panel Item Activity
3000 actions
Respiratory ciliopathies including non-CF bronchiectasis v0.11 PIK3CD Anna de Burca Added comment: Comment on phenotypes: Phenotype added based on external expert review and evidence from OMIM
Respiratory ciliopathies including non-CF bronchiectasis v0.11 PIK3CD Anna de Burca Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, 615513; Bronchiectasis
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Classified gene: TNNI3K as Green List (high evidence)
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Added comment: Comment on list classification: 3 unrelated cases of Cardiac conduction disease with or without dilated cardiomyopathy with plausible disease causing variants in the TNNI3K gene.
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Gene: tnni3k has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.10 PIK3CD Louise Daugherty Mode of pathogenicity for gene: PIK3CD was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Progressive cardiac conduction disease v0.2 TNNI3K Eleanor Williams gene: TNNI3K was added
gene: TNNI3K was added to Progressive cardiac conduction disease. Sources: Literature
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Review for gene: TNNI3K was set to GREEN
Added comment: TNNI3K associated with Cardiac conduction disease with or without dilated cardiomyopathy in OMIM.

3 cases reported of families with cardiac conduction disease with or without dilated cardiomyopathy (PMID: 24925317 (Theis et al 2014), 25791106 (Xi et al 2015), 29355681 (Fan et al 2018)). Variants segregate within the 3 families. 3 different heterozygous variants found; G526D, T539A and a splice site variant (c.333 + 2 T > C) which may result in a premature stop codon.

Has also been added to the Cardiac arrhythmias GMS Rare Disease Virtual panel
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v0.9 PIK3CD Louise Daugherty Publications for gene: PIK3CD were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Classified gene: PIK3CD as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Added comment: Comment on list classification: Upgraded to green based on review by Ian Berry.
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Gene: pik3cd has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.7 PIK3CD Louise Daugherty Mode of inheritance for gene: PIK3CD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v1.16 CDCA8 Ivone Leong Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; thyroid dysgenesis to Congenital hypothyroidism; thyroid dysgenesis; No OMIM number
Respiratory ciliopathies including non-CF bronchiectasis v0.6 STK36 Louise Daugherty Publications for gene: STK36 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.5 LRRC56 Louise Daugherty Publications for gene: LRRC56 were set to
Congenital hypothyroidism v1.15 TBL1X Ivone Leong Publications for gene: TBL1X were set to PMID: 27603907
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Marked gene: CYP3A4 as ready
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Classified gene: CYP3A4 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber.There is not sufficient evidence to promote this gene to green status. The functional studies described in PMID: 29461981 is only in vitro studies. Have put 'watchlist' tag on.
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Marked gene: SLC9A3R1 as ready
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Cardiac arrhythmias v0.13 TNNI3K Eleanor Williams Classified gene: TNNI3K as Green List (high evidence)
Cardiac arrhythmias v0.13 TNNI3K Eleanor Williams Added comment: Comment on list classification: 3 unrelated cases of Cardiac conduction disease with or without dilated cardiomyopathy with plausible disease causing variants in the TNNI3K gene.
Cardiac arrhythmias v0.13 TNNI3K Eleanor Williams Gene: tnni3k has been classified as Green List (High Evidence).
Cardiac arrhythmias v0.12 TNNI3K Eleanor Williams commented on gene: TNNI3K: TNNI3K associated with Cardiac conduction disease with or without dilated cardiomyopathy in OMIM.

3 cases reported of families with cardiac conduction disease with or without dilated cardiomyopathy (PMID: 24925317 (Theis et al 2014), 25791106 (Xi et al 2015), 29355681 (Fan et al 2018)). Variants segregate within the 3 families. 3 different heterozygous variants found; G526D, T539A and a splice site variant (c.333 + 2 T > C) which may result in a premature stop codon.
Cardiac arrhythmias v0.12 TNNI3K Eleanor Williams gene: TNNI3K was added
gene: TNNI3K was added to Cardiac arrhythmias. Sources: Literature
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Review for gene: TNNI3K was set to GREEN
Added comment: Sources: Literature
Hypogonadotropic hypogonadism v1.20 CCDC141 Ivone Leong Phenotypes for gene: CCDC141 were changed from Normosmic IHH to Normosmic IHH (no OMIM)
Hypogonadotropic hypogonadism v1.19 CCDC141 Ivone Leong Publications for gene: CCDC141 were set to PMID: 28324054
Laterality disorders and isomerism v0.7 ZIC3 Louise Daugherty Publications for gene: ZIC3 were set to
Laterality disorders and isomerism v0.6 ZIC3 Louise Daugherty commented on gene: ZIC3: Review on panel: Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Helen Brittain (Genomics England Curator). Green List (high evidence). Review: >5 families with situs abnormalities in listed PMID. Evidence for causation of heterotaxy. Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: x-linked Heterotaxy syndrome, Visceral, 1; Heterotaxy, visceral, 1, X-linked 306955; Visceral Heterotaxy; Heterotaxy, Visceral, 1, X-Linked. Publications: 9354794
Laterality disorders and isomerism v0.6 NODAL Louise Daugherty Publications for gene: NODAL were set to
Laterality disorders and isomerism v0.5 NODAL Louise Daugherty edited their review of gene: NODAL: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). In 14/269 cases with heterotaxy and or cardiovascular malformations, mutations identified in listed PMID. Mutations included missense, splice site and an in-frame indel.
Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy syndrome; Heterotaxy, visceral, 5, 270100; Visceral Heterotaxy; Heterotaxy, Visceral, 5, Autosomal. Publications: 19064609; Changed publications: 19064609
Pituitary hormone deficiency v0.67 KCNQ1 Martina Owens reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29097701; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.5 LRRC56 Louise Daugherty Publications for gene: LRRC56 were set to
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Classified gene: SLC9A3R1 as Red List (low evidence)
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red based on review by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.28 SLC9A3R1 Martina Owens reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypophosphataemia or rickets v0.28 FGFR1 Martina Owens reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: ; Publications: 15625620; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.4 ACVR2B Louise Daugherty edited their review of gene: ACVR2B: Changed publications: 9916847
Laterality disorders and isomerism v0.4 ACVR2B Louise Daugherty commented on gene: ACVR2B: From review 4 Jul 2017, 7:24 a.m. Panel Name Familial non syndromic congenital heart disease. Panel version: 1.8 Helen Brittain (Genomics England Curator)
Green List (high evidence)
Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrialisomerism in PMID:9916847.
4 Jul 2017, 7:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy; Heterotaxy, Visceral, 4, Autosomal
Publications: 9916847
Familial hyperparathyroidism v0.26 GCM2 Martina Owens reviewed gene: GCM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27745835, 29264504; Phenotypes: ; Mode of inheritance:
Molecular autopsy v0.55 TRPM4 Eleanor Williams Added comment: Comment on phenotypes: Added phenotype from OMIM that was missing on source Brugada syndrome panel
Molecular autopsy v0.55 TRPM4 Eleanor Williams Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB 604559
Brugada syndrome v1.16 TRPM4 Eleanor Williams Added comment: Comment on phenotypes: Added phenotype from OMIM
Brugada syndrome v1.16 TRPM4 Eleanor Williams Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB 604559
Cardiac arrhythmias v0.11 TRPM4 Eleanor Williams Added comment: Comment on phenotypes: Added phenotype from OMIM that was missing from source panel Brugada syndrome
Cardiac arrhythmias v0.11 TRPM4 Eleanor Williams Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB 604559
Cardiac arrhythmias v0.10 SNTA1 Eleanor Williams Phenotypes for gene: SNTA1 were changed from Long QT syndrome 12 to Long QT syndrome 12 612955
Molecular autopsy v0.54 SNTA1 Eleanor Williams Added comment: Comment on phenotypes: Adding phenotype from OMIM
Molecular autopsy v0.54 SNTA1 Eleanor Williams Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12 612955
Long QT syndrome v1.9 SNTA1 Eleanor Williams Added comment: Comment on phenotypes: Added missing phenotype from OMIM
Long QT syndrome v1.9 SNTA1 Eleanor Williams Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12 612955
Hypogonadotropic hypogonadism v1.18 DCAF17 Martina Owens reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19026396, 20507343, 29178422; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism v1.18 CCDC141 Martina Owens reviewed gene: CCDC141: Rating: AMBER; Mode of pathogenicity: ; Publications: 28324054, 27014940; Phenotypes: ; Mode of inheritance:
Cardiac arrhythmias v0.9 SNTA1 Eleanor Williams Added comment: Comment on phenotypes: Added phenotype that was missing from source panels
Cardiac arrhythmias v0.9 SNTA1 Eleanor Williams Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12
Hypophosphataemia or rickets v0.27 CYP3A4 Martina Owens reviewed gene: CYP3A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461981; Phenotypes: vitamin Ddependent rickets type 3 (no OMIM number); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.26 CYP3A4 Ivone Leong gene: CYP3A4 was added
gene: CYP3A4 was added to Hypophosphataemia or rickets. Sources: NHS GMS
Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP3A4 were set to 29461981
Disorders of sex development v1.28 AMHR2 Martina Owens reviewed gene: AMHR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28528332; Phenotypes: Persistent Mullerian duct syndrome, type II, 261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v1.28 AMH Martina Owens reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: ; Publications: 28528332; Phenotypes: Persistent Mullerian duct syndrome, type I, 261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v1.27 AMHR2 Ivone Leong gene: AMHR2 was added
gene: AMHR2 was added to Disorders of sex development. Sources: NHS GMS
Mode of inheritance for gene: AMHR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMHR2 were set to 28528332
Phenotypes for gene: AMHR2 were set to Persistent Mullerian duct syndrome, type II, 261550
Disorders of sex development v1.27 AMH Ivone Leong gene: AMH was added
gene: AMH was added to Disorders of sex development. Sources: NHS GMS
Mode of inheritance for gene: AMH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMH were set to 28528332
Phenotypes for gene: AMH were set to Persistent Mullerian duct syndrome, type I, 261550
Primary pigmented nodular adrenocortical disease v0.3 PDE11A Martina Owens reviewed gene: PDE11A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767104; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, 610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary pigmented nodular adrenocortical disease v0.3 PDE8B Martina Owens reviewed gene: PDE8B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18272904; Phenotypes: Pigmented nodular adrenocortical disease, primary, 3, 614190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary pigmented nodular adrenocortical disease v0.3 PRKAR1A Martina Owens reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 12213893; Phenotypes: Pigmented nodular adrenocortical disease, primary, 1, 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial tumoral calcinosis v0.8 SAMD9 Martina Owens reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16960814, 18094730; Phenotypes: Tumoral calcinosis, familial, normophosphatemic, 610455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial tumoral calcinosis v0.8 KL Martina Owens reviewed gene: KL: Rating: RED; Mode of pathogenicity: ; Publications: 17710231; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 617994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial tumoral calcinosis v0.8 FGF23 Martina Owens reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 15590700; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial tumoral calcinosis v0.8 GALNT3 Martina Owens reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15133511; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital hypothyroidism v1.14 CDCA8 Ivone Leong Source NHS GMS was added to CDCA8.
Congenital hypothyroidism v1.13 CDCA8 Ivone Leong Source Expert Review was added to CDCA8.
Rating Changed from No List (delete) to Red List (low evidence)
Congenital hypothyroidism v1.12 CDCA8 Ivone Leong All sources for gene: CDCA8 were removed
Congenital hypothyroidism v1.11 CDCA8 Ivone Leong Classified gene: CDCA8 as Amber List (moderate evidence)
Congenital hypothyroidism v1.11 CDCA8 Ivone Leong Gene: cdca8 has been classified as Amber List (Moderate Evidence).
Primary pigmented nodular adrenocortical disease v0.2 PDE11A Ivone Leong gene: PDE11A was added
gene: PDE11A was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS
Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE11A were set to 16767104
Phenotypes for gene: PDE11A were set to Pigmented nodular adrenocortical disease, primary, 2, 610475
Primary pigmented nodular adrenocortical disease v0.2 PDE8B Ivone Leong gene: PDE8B was added
gene: PDE8B was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS
Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE8B were set to 18272904
Phenotypes for gene: PDE8B were set to Pigmented nodular adrenocortical disease, primary, 3, 614190
Primary pigmented nodular adrenocortical disease v0.2 PRKAR1A Ivone Leong gene: PRKAR1A was added
gene: PRKAR1A was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAR1A were set to 12213893
Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1, 610489
Familial tumoral calcinosis v0.7 SAMD9 Ivone Leong Phenotypes for gene: SAMD9 were changed from to Tumoral calcinosis, familial, normophosphatemic, 610455
Familial tumoral calcinosis v0.6 KL Ivone Leong Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 617994
Familial tumoral calcinosis v0.5 FGF23 Ivone Leong Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993
Familial tumoral calcinosis v0.4 GALNT3 Ivone Leong Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Familial tumoral calcinosis v0.3 FGF23 Ivone Leong Phenotypes for gene: FGF23 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Familial tumoral calcinosis v0.2 SAMD9 Ivone Leong gene: SAMD9 was added
gene: SAMD9 was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD9 were set to 18094730; 16960814
Familial tumoral calcinosis v0.2 KL Ivone Leong gene: KL was added
gene: KL was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: KL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KL were set to 17710231
Familial tumoral calcinosis v0.2 FGF23 Ivone Leong gene: FGF23 was added
gene: FGF23 was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: FGF23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF23 were set to 15590700
Familial tumoral calcinosis v0.2 GALNT3 Ivone Leong gene: GALNT3 was added
gene: GALNT3 was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT3 were set to 15133511
Intellectual disability v2.596 PPP1R21 Louise Daugherty Added comment: Comment on publications: added publications recommended by external reviews
Intellectual disability v2.596 PPP1R21 Louise Daugherty Publications for gene: PPP1R21 were set to 29808498; 28940097
Fetal anomalies v0.62 CDKN1C Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'Monoallelic, imprinted status unknown' to 'Monoallelic, paternally imprinted (maternal allele expressed). This reflects DDG2P update which now lists 'imprinted' MOI for both BECKWITH-WIEDEMANN SYNDROME and IMAGe Syndrome. This MOI is taken from the PanelApp 'Imprinted Genes' panel.
Fetal anomalies v0.62 CDKN1C Rebecca Foulger Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
DDG2P v0.48 CDKN1C Rebecca Foulger Publications for gene: CDKN1C were set to 22634751; 24624461; 28508599
DDG2P v0.47 CDKN1C Rebecca Foulger commented on gene: CDKN1C: DDG2P update (curated 15th January 2019): MOI currently listed as 'imprinted' for both 'BECKWITH-WIEDEMANN SYNDROME' and IMAGe Syndrome. MOP curerntly listed as 'loss of function' for 'BECKWITH-WIEDEMANN SYNDROME' and 'gain of function' for 'IMAGe Syndrome'.
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Added comment: Comment when marking as ready: Sufficient cases. Phenotype (antenatal detection of narrow chest, fractures and bowed femora) is within the spectrum of presentation with OI. Therefore appropriate for inclusion.
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases. Presenting with antenatal detection of narrow chest, bowed femora and fractures therefore within the spectrum of OI presentation and could mimic this. Appropriate for inclusion.
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Osteogenesis imperfecta v1.15 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Osteogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases, relevant phenotype in terms of short ribs / narrow chest and neonatal respiratory distress
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Thoracic dystrophies v1.6 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Thoracic dystrophies. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Added comment: Comment when marking as ready: Sufficient cases, relevant phenotype. Therefore considered green. Also I will add it to the thoracic dystrophies and OI panels in view of the presentation with small chest / respiratory distress and fractures.
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases, relevant phenotype
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.139 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Penetrance for gene: TRPV6 were set to unknown
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Intellectual disability v2.595 NUS1 Konstantinos Varvagiannis gene: NUS1 was added
gene: NUS1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NUS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NUS1 were set to 25066056; 29100083; 24824130; 30348779
Phenotypes for gene: NUS1 were set to #617082 - ?Congenital disorder of glycosylation, type 1aa; #617831 - Mental retardation, autosomal dominant 55, with seizures; Abnormality of extrapyramidal motor function
Penetrance for gene: NUS1 were set to unknown
Review for gene: NUS1 was set to AMBER
gene: NUS1 was marked as current diagnostic
Added comment: Mutations in NUS1 have been implicated in recessive as well as dominant forms of ID (1 and 3 unrelated individuals respectively). The latter individuals presented with a developmental and epileptic encephalopathy with ID. At least 2 of these individuals had tremor and other movement disorders. A recent study proposes that NUS1 variants contribute to Parkinson's disease (1 individual with de novo variant affecting the canonical splice site, 26 additional individuals with missense variants - for which segregation studies where not however performed). ID is not commented on for these individuals.

NUS1 is included in the DD panel of G2P, associated with "Epilepsy and intellectual disability". (Monoallelic LoF variants / Disease confidence : probable). This gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc). Associated phenotypes in OMIM and others discussed in the literature are summarized below (to my understanding).

As a result, NUS1 can be considered for inclusion in the ID panel probably as amber.
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Recessive - [MIM #617082 - ?Congenital disorder of glycosylation, type 1aa] :

Park et al. (2014 - PMID: 25066056) report on an individual homozygous for a NUS1 missense variant (R290H) and suggest that biallelic variants cause a congenital disorder of glycosylation.

The authors based in studies in yeast, mice and man provide evidence that NUS1 encodes the Nogo-B receptor (NgBR), a subunit of cis-prenyltransferase (cis-PTase), important for its activation. cis-PTase catalyzes one of the reactions for dolichol biosynthesis. Dolichol, in turn, is a carrier of glycans for N-linked glycosylation, O-mannosylation and GPI anchor biosynthesis.

Genetic defects in the dolichol biosynthetic pathway have been linked to other forms of CDG and/or other recessive or dominant neurodevelopmental disorders (eg. SRD5A3- and DHDDS-related disorders).

Similarities are provided at the cellular level between different organisms. Heterozygous knockout mice appear normal. Homozygosity is associated with embryonic lethality before E6.5. Conditional knockout in mouse embryonic fibroblasts led to accumulation of free cholesterol, decreased cis-PTase activity, and mannose incorporation in protein (the first & third rescued by transduction with lentiviral human NgBR).

In patient fibroblasts protein levels appeared similar to controls. Interaction with Nogo-B (and hCIT - the product of DHDDS) was not affected. As in mice, accumulation of free cholesterol was observed in cells, with decreased cis-PTase activity and mannose incorporation. LAMP-1 and ICAM-1 were hypoglycosylated in patient fibroblasts. Altered dolichol profiles in serum and urine were observed in carriers of the NUS1 variant, similarly to what described in individuals with DHDDS LoF variants.
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Dominant - [MIM #617831 - Mental retardation, autosomal dominant 55, with seizures].

Hamdan et al. (2017 - PMID: 29100083) report on 3 unrelated individuals with developmental and epileptic encephalopathy (onset: 10m - 2.5y) and ID. Two individuals harbored de novo LoF variants while a third subject had a deletion of exon 2. Movement disorders were noted in all 3 and included tremor (2 subjects) or ataxia (1 additional subject).

The authors cite a previous study on 6q22.1 deletions the critical region of which encompassed only NUS1 and the promoter of SLC35F1 (Szafranski et al. - PMID: 24824130). Haploinsufficiency is discussed as a possible mechanism (pLI of 0.87). A more severe phenotype due to dramatic reduction of NUS1 activity is proposed for the previously reported patient with CDG.
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Other:
Guo et al. (2018 - PMID: 30348779) suggest that NUS1 pathogenic variants contribute to Parkinson's disease. By performing WES in 39 individuals with early onset Parkinson's disease and their unaffected patients (and sibs) the authors identified 1 individual with de novo insertion affecting a NUS1 canonical splice site. RT-PCR demonstrated increased mRNA levels compared with controls. Skipping of 91 bp of exon 3 was demonstrated.

Study in 2 large sporadic PD-patient (N=1852+3237)/control cohorts (N=1565+2858) suggested association between NUS1 non-synonymous variants and PD (P=1.01e-5, OR:11.3). Other genetic causes of PD were excluded in 26 additional individuals with NUS1 missense variants.

Phenotypes of all 27 individuals are provided in Dataset_S04.

NUS1 has been found to be differentially expressed in PD mouse models.

RNAi-mediated knockdown of Tango14 (the Drosophila NUS1) resulted in impaired climbing activity, reduction in brain dopamine levels and abnormal apoptotic signals in brain.
Sources: Literature, Radboud University Medical Center, Nijmegen
Epidermolysis bullosa and congenital skin fragility v0.11 SERPINB8 Rebecca Foulger commented on gene: SERPINB8: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Epidermolysis bullosa and congenital skin fragility v0.11 CSTA Rebecca Foulger commented on gene: CSTA: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Intellectual disability v2.595 STAG2 Konstantinos Varvagiannis gene: STAG2 was added
gene: STAG2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: STAG2 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: STAG2 were set to 29263825; 28296084; 30158690; 30447054; 19449417; 26443594; 25677961; 23637084; 25450604
Phenotypes for gene: STAG2 were set to Global developmental delay; Intellectual disability; Abnormality of head or neck; Microcephaly; Growth delay; Hearing impairment; Abnormal heart morphology
Penetrance for gene: STAG2 were set to unknown
Review for gene: STAG2 was set to GREEN
gene: STAG2 was marked as current diagnostic
Added comment: Several affected individuals (from at least 8 unrelated) families have been reported in the literature. The phenotype consists - among others - of DD/ID. STAG2 is located on long arm of chromosome X (Xq25). Based on these reports, both males and females can be affected.

Soardi et al. (2017 - PMID: 29263825) report an affected male belonging to a large pedigree with 4 other similarly affected males. The disorder in this pedigree followed a typical X-linked inheritance pattern. All affected males were hemizygous for a missense variant (NM_001042749.1:c.980G>A or p.Ser327Asn). Common phenotype consisted of moderate ID, short stature, sensory hearing loss and some similar facial features. Unaffected males did not harbor the variant. Heterozygous females were not affected. Co-segragation of the variant with the affected status under an X-linked model, appeared unlikely to have occurred by chance (probability of 1/131,072 - logarithm of odds score of 5.12).

Mullegama et al. (2017 - PMID: 28296084) report on an 8-year-old girl harboring a de novo nonsense variant in STAG2 (NM_001042749.1:c.205C>T or p.Arg69Ter). This individual presented - among others with - DD, microcephaly, growth delay, digit anomalies, particular facial features, and anomalies of other systems (eg. hearing loss, cardiac defect, etc). The authors summarize the features of 2 subjects from the DDD study as available in DECIPHER, without additional details. [Variants of these individuals NM_001042749.1:c.1913_1922del10 or p.(A638Vfs*10) / NM_001042749.1:c.1811G>A p.(R604Q)].

Yuan et al. (2018 - PMID: 30158690) report on 4 females with de novo LoF STAG2 variants as well as 1 male subject with a de novo missense one. DD (5/5) and ID (4/4) were features in all individuals for whom this information was available. One additional female had an intragenic STAG2 deletion, although this subject was not reported to have DD or ID (table S6 : microcephaly, seizures and facial phenotype). It is not known whether the deletion was inherited or had occurred as a de novo event. All variants from this study have been submitted in ClinVar (phenotype : STAG2-related disorder).

Mullegama et al. (2018 - PMID: 30447054) report on a 4-year-old male with DD, microcephaly, growth delay, digit anomalies due to a de novo missense STAG2 variant (c.3027A>T or p.Lys1009Asn). As discussed by the authors at the time of the study 33 males with Xq25 duplications and ID had been reported (PMIDs cited: 19449417, 26443594, 25677961, 23637084, 25450604).

Discussed in these articles :

STAG2 (or STAG1) is one of the 4 core proteins of the cohesin complex, the other 3 being SMC1A, SMC3 and RAD21. Mutations in genes encoding these proteins or their interactors (eg. NIBPL, HDAC8, ESCO2, etc) have been associated cohesinopathies, a group of multisystem developmental disorders (eg. Cornelia de Lange syndrome, Roberts/SC phocomelia, etc).

It has been commented that the phenotype of STAG2-related disorder presents overlap with other cohesinopathies (eg. DD, microcephaly and growth retardation, craniofacial features, anomalies of the digits, etc).

Decreased proportion of nuclei with premature sister chromatid separation compared to controls was found on one occasion (suggestive of tighter sister chromatid cohesion) [Mullegama-A]. Sister chromatid cohesion was not affected in another report [Soardi et al.].

Western blot demonstrated significant reduction of STAG2 levels for a nonsense variant [Mullegama-A]. Levels were not perturbed for a missense variant [Soardi et al.].

Upon immunofluorescence STAG2 presented normal (nuclear) localization for a missense variant for which this was studied [Soardi et al.].

Perturbation of the cell cycle profile (higher percentage of G2/M cells) was demonstrated for patient fibroblasts compared to controls on one occasion where this was studied. [Soardi et al.].

Microarray expression studies in patient fibroblasts demonstrated altered transcription (upregulation) of genes implicated in cell division, mitosis and DNA replication upon comparison with normal fibroblasts [Soardi et al.].

The effect of a missense variant on STAG2 binding to other cohesin subunits (SCC1, SMC1 and SMC3) and regulators was studied. Binding was found to be reduced in vivo (in HeLa cells) for SCC1 (its direct binding partner) as well as SMC1, SMC3 (possibly indirectly). Reduced STAG2 binding to cohesin regulators was also shown in vivo. However, in vitro studies were not suggestive of impaired binding of STAG2 to SCC1 (a finding difficult to explain) [Soardi et al.].

STAG2 appears to be intolerant to LoF variants (pLI of 1 in ExAC). Z-Score for missense variants is 5.11.

Mullegama et al. (B) comment that Xq25 duplications in males may be associated with milder phenotypes compared to intragenic variants. They further hypothesize that males are able to survive less damaging variants while females are able to survive more deleterious (eg. LoF) ones though with more severe phenotypes (similarity to the MECP2 model is discussed).
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STAG2 is not associated with any phenotype in OMIM.
In G2P this gene is associated with STAG2-related developmental delay with microcephaly and congenital anomalies (disease confidence : confirmed / Both DD and ID among the phenotypes assigned to this entry).
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STAG2 is included in gene panels for ID offered by some diagnostic laboratories.
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As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Hereditary spastic paraplegia - childhood onset v0.62 SLC1A4 Arianna Tucci commented on gene: SLC1A4
Hereditary spastic paraplegia - childhood onset v0.62 SLC16A2 Arianna Tucci commented on gene: SLC16A2
Hereditary spastic paraplegia - childhood onset v0.62 SERAC1 Arianna Tucci commented on gene: SERAC1
Hereditary spastic paraplegia - childhood onset v0.62 SACS Arianna Tucci commented on gene: SACS
Hereditary spastic paraplegia - childhood onset v0.62 RTN2 Arianna Tucci commented on gene: RTN2: Onset of SPG12 usually in the first decade
Hereditary spastic paraplegia - childhood onset v0.62 RTN2 Arianna Tucci commented on gene: RTN2
Hereditary spastic paraplegia - childhood onset v0.62 REEP1 Arianna Tucci commented on gene: REEP1
Hereditary spastic paraplegia - childhood onset v0.62 POLR3A Arianna Tucci commented on gene: POLR3A
Hereditary spastic paraplegia - childhood onset v0.62 PNPLA6 Arianna Tucci commented on gene: PNPLA6
Hereditary spastic paraplegia - childhood onset v0.62 PLP1 Arianna Tucci commented on gene: PLP1
Hereditary spastic paraplegia - childhood onset v0.62 OPA3 Arianna Tucci commented on gene: OPA3
Hereditary spastic paraplegia - childhood onset v0.62 NKX6-2 Arianna Tucci commented on gene: NKX6-2
Hereditary spastic paraplegia - childhood onset v0.62 NIPA1 Arianna Tucci commented on gene: NIPA1
Hereditary spastic paraplegia - childhood onset v0.62 L1CAM Arianna Tucci commented on gene: L1CAM
Hereditary spastic paraplegia - childhood onset v0.62 KIF5A Arianna Tucci commented on gene: KIF5A
Hereditary spastic paraplegia - childhood onset v0.62 KIF1A Arianna Tucci commented on gene: KIF1A
Hereditary spastic paraplegia - childhood onset v0.62 KIDINS220 Arianna Tucci commented on gene: KIDINS220
Hereditary spastic paraplegia - childhood onset v0.62 HSPD1 Arianna Tucci commented on gene: HSPD1
Hereditary spastic paraplegia - childhood onset v0.62 GBA2 Arianna Tucci commented on gene: GBA2
Hereditary spastic paraplegia - childhood onset v0.62 FARS2 Arianna Tucci commented on gene: FARS2
Hereditary spastic paraplegia - childhood onset v0.62 FA2H Arianna Tucci commented on gene: FA2H
Hereditary spastic paraplegia - childhood onset v0.62 ERLIN2 Arianna Tucci commented on gene: ERLIN2
Hereditary spastic paraplegia - childhood onset v0.62 DDHD2 Arianna Tucci commented on gene: DDHD2
Hereditary spastic paraplegia - childhood onset v0.62 DDHD1 Arianna Tucci commented on gene: DDHD1
Hereditary spastic paraplegia - childhood onset v0.62 CYP7B1 Arianna Tucci commented on gene: CYP7B1
Hereditary spastic paraplegia - childhood onset v0.62 CYP2U1 Arianna Tucci commented on gene: CYP2U1
Hereditary spastic paraplegia - childhood onset v0.62 CAPN1 Arianna Tucci reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia - childhood onset v0.62 C19orf12 Arianna Tucci commented on gene: C19orf12
Hereditary spastic paraplegia - childhood onset v0.62 C12orf65 Arianna Tucci commented on gene: C12orf65
Hereditary spastic paraplegia - childhood onset v0.62 BSCL2 Arianna Tucci commented on gene: BSCL2
Hereditary spastic paraplegia - childhood onset v0.62 B4GALNT1 Arianna Tucci commented on gene: B4GALNT1
Hereditary spastic paraplegia - childhood onset v0.62 ATL1 Arianna Tucci commented on gene: ATL1
Hereditary spastic paraplegia - childhood onset v0.62 AP4S1 Arianna Tucci commented on gene: AP4S1
Hereditary spastic paraplegia - childhood onset v0.62 AP4M1 Arianna Tucci commented on gene: AP4M1
Hereditary spastic paraplegia - childhood onset v0.62 AP4E1 Arianna Tucci commented on gene: AP4E1
Hereditary spastic paraplegia - childhood onset v0.62 AP4B1 Arianna Tucci commented on gene: AP4B1
Hereditary spastic paraplegia - childhood onset v0.62 ALS2 Arianna Tucci commented on gene: ALS2
Hereditary spastic paraplegia - childhood onset v0.62 ALDH18A1 Arianna Tucci commented on gene: ALDH18A1
Hereditary spastic paraplegia - childhood onset v0.62 AIMP1 Arianna Tucci commented on gene: AIMP1
Hereditary spastic paraplegia - childhood onset v0.62 AFG3L2 Arianna Tucci commented on gene: AFG3L2
Hereditary spastic paraplegia - childhood onset v0.62 ADAR Arianna Tucci commented on gene: ADAR
Monogenic diabetes v0.10 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from 604928; Wolfram syndrome 2 to Wolfram syndrome 2604928
Epidermolysis bullosa and congenital skin fragility v0.11 CDSN Rebecca Foulger edited their review of gene: CDSN: Added comment: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.; Changed phenotypes: Peeling skin syndrome 1, 270300, PSS1
Epidermolysis bullosa and congenital skin fragility v0.11 CAST Rebecca Foulger commented on gene: CAST: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Cholestasis v0.10 PEX2 Ivone Leong Source Other was added to PEX2.
Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 for gene: PEX2
Publications for gene PEX2 were changed from to 14630978; 1546315; 2454948
Cholestasis v0.10 CC2D2A Ivone Leong Source Other was added to CC2D2A.
Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285 for gene: CC2D2A
Publications for gene CC2D2A were changed from to 27959436; 19574260; 18950740
Cholestasis v0.10 CYP7B1 Ivone Leong Source Other was added to CYP7B1.
Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7B1
Publications for gene CYP7B1 were changed from to 9802883
Cholestasis v0.10 ALDOB Ivone Leong Source Other was added to ALDOB.
Mode of inheritance for gene ALDOB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes acute liver failure; Neonatal and Adult Cholestasis; Fructose intolerance, hereditary for gene: ALDOB
Cholestasis v0.10 PEX12 Ivone Leong Source Other was added to PEX12.
Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 3B 266510; Peroxisome biogenesis disorder 3A (Zellweger) 614859 for gene: PEX12
Publications for gene PEX12 were changed from to 9090384; 9354782
Cholestasis v0.10 PEX26 Ivone Leong Source Other was added to PEX26.
Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger)614872 for gene: PEX26
Publications for gene PEX26 were changed from to 12851857; 17336976; 15858711
Cholestasis v0.10 PEX6 Ivone Leong Source Other was added to PEX6.
Mode of inheritance for gene PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 for gene: PEX6
Publications for gene PEX6 were changed from to 10408779; 8670792; 8940266
Cholestasis v0.10 SERPINA1 Ivone Leong Source Other was added to SERPINA1.
Mode of inheritance for gene SERPINA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alpha-1 Antitrypsin Deficiency; Neonatal and Adult Cholestasis for gene: SERPINA1
Publications for gene SERPINA1 were changed from to 26126923; 26003074; 24750955
Cholestasis v0.10 PEX1 Ivone Leong Source Other was added to PEX1.
Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome; Neonatal and Adult Cholestasis for gene: PEX1
Publications for gene PEX1 were changed from to 9398848; 22871920; 9398847
Cholestasis v0.10 VPS33B Ivone Leong Source Other was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes arthrogryposis-renal-cholestasis syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, Renal Dysfunction, and Cholestasis 1; Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; ARC syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis 1 for gene: VPS33B
Cholestasis v0.10 VIPAS39 Ivone Leong Source Other was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Cholestasis v0.10 UGT1A1 Ivone Leong Source Other was added to UGT1A1.
Mode of inheritance for gene UGT1A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Gilbert syndrome] 143500; Crigler-Najjar syndrome, type I 218800; Neonatal and Adult Cholestasis; Crigler-Najjar syndrome, type II 606785; unconjugated jaundice for gene: UGT1A1
Publications for gene UGT1A1 were changed from to 11013440
Cholestasis v0.10 TJP2 Ivone Leong Source Other was added to TJP2.
Mode of inheritance for gene TJP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cholestasis, Progressive Familial Intrahepatic 4; Neonatal and Adult Cholestasis; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Cholestasis v0.10 TALDO1 Ivone Leong Source Other was added to TALDO1.
Mode of inheritance for gene TALDO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Transaldolase deficiency, 606003 for gene: TALDO1
Publications for gene TALDO1 were changed from to 18331807; 11283793; 21119539; 19299175; 23315216; 25388407; 29721915; 24097415
Cholestasis v0.10 SLC25A13 Ivone Leong Source Other was added to SLC25A13.
Mode of inheritance for gene SLC25A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD; Citrullinemia type 2, neonatal onset; Citrullinemia type 2, adult onset; Citrullinemia, adult-onset type II 603471; Citrullinemia, type II, neonatal-onset 605814; Neonatal and Adult Cholestasis for gene: SLC25A13
Publications for gene SLC25A13 were changed from to 11343052; 11281457; 12424587
Cholestasis v0.10 NR1H4 Ivone Leong Source Other was added to NR1H4.
Mode of inheritance for gene NR1H4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ciliopathy; modifier of other genetic cholestatic conditions; Cholestasis, Progressive Familial Intrahepatic 5; Cholestasis, progressive familial intrahepatic 5, 617049; Neonatal and Adult Cholestasis for gene: NR1H4
Cholestasis v0.10 NPC2 Ivone Leong Source Other was added to NPC2.
Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Niemann-Pick disease type C2, 607625 for gene: NPC2
Publications for gene NPC2 were changed from to 17470133; 11567215; 11125141; 12955717
Cholestasis v0.10 NPC1 Ivone Leong Source Other was added to NPC1.
Mode of inheritance for gene NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Niemann-Pick disease, type D, 257220; Niemann-Pick disease type C1, 257220; Neonatal and Adult Cholestasis for gene: NPC1
Publications for gene NPC1 were changed from to 9634529; 10480349; 11545687; 10521290; 9211849; 24135395; 12554680; 11754101
Cholestasis v0.10 NOTCH2 Ivone Leong Source Other was added to NOTCH2.
Mode of inheritance for gene NOTCH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Alagille syndrome 2; Neonatal and Adult Cholestasis for gene: NOTCH2
Publications for gene NOTCH2 were changed from to 22209762; 16773578
Cholestasis v0.10 JAG1 Ivone Leong Mode of inheritance for gene JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Alagille syndrome 1, 118450; Neonatal and Adult Cholestasis; Alagille syndrome for gene: JAG1
Publications for gene JAG1 were changed from to 23881058
Cholestasis v0.10 HSD3B7 Ivone Leong Source Other was added to HSD3B7.
Mode of inheritance for gene HSD3B7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid sythesis defect, congenital, 1 607765; Neonatal and Adult Cholestasis for gene: HSD3B7
Publications for gene HSD3B7 were changed from to 12679481; 11067870
Cholestasis v0.10 GNAS Ivone Leong Source Other was added to GNAS.
Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GNAS was changed from to Other - please provide details in the comments
Added phenotypes Cholestasis; McCune-Albright syndrome for gene: GNAS
Publications for gene GNAS were changed from to 10673080
Cholestasis v0.10 DCDC2 Ivone Leong Source Other was added to DCDC2.
Mode of inheritance for gene DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sclerosing cholangitis, neonatal, 617394; PFIC type 5; Neonatal sclerosis cholangitis; Neonatal and Adult Cholestasis for gene: DCDC2
Publications for gene DCDC2 were changed from to 25557784; 27319779; 27469900
Cholestasis v0.10 CYP7A1 Ivone Leong Source Other was added to CYP7A1.
Mode of inheritance for gene CYP7A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7A1
Publications for gene CYP7A1 were changed from to 9802883
Cholestasis v0.10 CYP27A1 Ivone Leong Source Other was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Severe neonatal cholestasis; Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Publications for gene CYP27A1 were changed from to 9186905; 28937538; 16278884; 11903362; 8514861; 2019602; 12000359; 7915755
Cholestasis v0.10 CLDN1 Ivone Leong Source Other was added to CLDN1.
Mode of inheritance for gene CLDN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ichthyosis-hypotrichosis-sclerosing cholangitis; Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626; Neonatal and Adult Cholestasis; NISCH syndrome; Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome for gene: CLDN1
Publications for gene CLDN1 were changed from to 24641442; 16619213; 15521008; 12164927; 28154377; 29146216
Cholestasis v0.10 BCS1L Ivone Leong Source Other was added to BCS1L.
Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cholestasis; GRACILE syndrome for gene: BCS1L
Publications for gene BCS1L were changed from to 11528392; 12215968; 9792866
Cholestasis v0.10 BAAT Ivone Leong Source Other was added to BAAT.
Mode of inheritance for gene BAAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypercholanemia, Familial; Hypercholanemia, familial, 607748; fat soluble vitamin deficiency; Neonatal and Adult Cholestasis; cholestasis for gene: BAAT
Publications for gene BAAT were changed from to 23415802; 12704386
Cholestasis v0.10 ATP8B1 Ivone Leong Source Other was added to ATP8B1.
Mode of inheritance for gene ATP8B1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene ATP8B1 was changed from to Other - please provide details in the comments
Added phenotypes Familial Intrahepatic Cholestasis; Cholestasis, intrahepatic, of pregnancy, 1, 147480; Cholestasis, Progressive Familial Intrahepatic 1; Cholestasis, benign recurrent intrahepatic, 243300; Cholestasis, progressive familial intrahepatic 1, 211600; Neonatal and Adult Cholestasis for gene: ATP8B1
Cholestasis v0.10 AMACR Ivone Leong Source Other was added to AMACR.
Mode of inheritance for gene AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 4 214950 for gene: AMACR
Publications for gene AMACR were changed from to 12512044; 10655068
Cholestasis v0.10 AKR1D1 Ivone Leong Source Other was added to AKR1D1.
Mode of inheritance for gene AKR1D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 2 235555; fat soluble vitamin deficiency; liver failure; bile salt synthesis defect; Bile acid synthesis defect, congenital, 2; Neonatal and Adult Cholestasis; cholestasis for gene: AKR1D1
Cholestasis v0.10 ABCC2 Ivone Leong Source Other was added to ABCC2.
Mode of inheritance for gene ABCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes modifier in biliary atresia; Dubin Johnson syndrome; Cholestasis; intrahepatic cholestasis of pregnancy; Dubin-Johnson syndrome, 237500 for gene: ABCC2
Publications for gene ABCC2 were changed from to 11477083; 21044052; 9425227; 29499989; 12942343; 10053008; 29707407
Cholestasis v0.10 ABCB4 Ivone Leong Source Other was added to ABCB4.
Mode of inheritance for gene ABCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene ABCB4 was changed from to Other - please provide details in the comments
Added phenotypes Progressive Familial Intrahepatic Cholestasis; modifier in other forms of genetic cholestasis; Familial Intrahepatic Cholestasis; gallstones; cholelithiasis; PFIC; PFIC3; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972; Neonatal and Adult Cholestasis; Cholestasis, Progressive Familial Intrahepatic 3 for gene: ABCB4
Cholestasis v0.10 ABCB11 Ivone Leong Source Other was added to ABCB11.
Mode of inheritance for gene ABCB11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene ABCB11 was changed from to Other - please provide details in the comments
Added phenotypes Familial Intrahepatic Cholestasis; Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, Progressive Familial Intrahepatic 2; PFIC2; Cholestasis, benign recurrent intrahepatic, 2, 605479; Neonatal and Adult Cholestasis for gene: ABCB11
Intestinal failure v0.10 STXBP2 Ivone Leong Source Other was added to STXBP2.
Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 for gene: STXBP2
Publications for gene STXBP2 were changed from to 20798128; 19804848
Intestinal failure v0.10 GUCY2C Ivone Leong Source Other was added to GUCY2C.
Mode of inheritance for gene GUCY2C was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GUCY2C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Familial Diarrhea 6 614616 for gene: GUCY2C
Publications for gene GUCY2C were changed from to 22521417; 22436048; 25994218
Intestinal failure v0.10 EPCAM Ivone Leong Source Other was added to EPCAM.
Mode of inheritance for gene EPCAM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Diarrhea 5, with tufting enteropathy, congenital 613217 for gene: EPCAM
Publications for gene EPCAM were changed from to 18572020; 21315192; 27302973
Intestinal failure v0.10 SKIV2L Ivone Leong Source Other was added to SKIV2L.
Mode of inheritance for gene SKIV2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 2 614602 for gene: SKIV2L
Publications for gene SKIV2L were changed from to 22444670; 27302973; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Intestinal failure v0.10 TTC37 Ivone Leong Source Other was added to TTC37.
Mode of inheritance for gene TTC37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 1 222470 for gene: TTC37
Publications for gene TTC37 were changed from 27302973 to 27302973; 20176027
Cholestasis v0.9 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850; Cholestasis; MYO5B associated disease
Cholestasis v0.8 MYO5B Ivone Leong Publications for gene: MYO5B were set to
Cholestasis v0.7 MYO5B Ivone Leong Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.47 KCNA2 Rebecca Foulger commented on gene: KCNA2: DDG2P updated 09/01/2019. Ratings remain as 'confirmed' for both the activating (gain of function) and the loss of function EPILEPTIC ENCEPHALOPATHY phenotypes.
DDG2P v0.47 KCNA2 Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update from 09/01/2019: 'EPILEPTIC ENCEPHALOPATHY' phenotype replaced.
DDG2P v0.47 KCNA2 Rebecca Foulger Phenotypes for gene: KCNA2 were changed from EPILEPTIC ENCEPHALOPATHY. to EPILEPTIC ENCEPHALOPATHY Loss-of-function; EPILEPTIC ENCEPHALOPATHY Gain-of-function
DDG2P v0.46 PRRX1 Rebecca Foulger commented on gene: PRRX1: DDG2P updated 09/01/2019. Rating renains as 'possible' for both the monoallelic and biallelic disorders.
DDG2P v0.46 PRRX1 Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update 09/01/2019: 'AGNATHIA-OTOCEPHALY COMPLEX 202650' phenotype replaced.
DDG2P v0.46 PRRX1 Rebecca Foulger Phenotypes for gene: PRRX1 were changed from AGNATHIA-OTOCEPHALY COMPLEX 202650 to AGNATHIA-OTOCEPHALY COMPLEX biallelic; AGNATHIA-OTOCEPHALY COMPLEX monoallelic
DDG2P v0.45 RPS6KA3 Rebecca Foulger commented on gene: RPS6KA3: DDG2P updated 09/01/2019. Ratings remain as 'Confirmed' for both the XLD and XLR forms of Coffin-Lowry Syndrome.
DDG2P v0.45 RPS6KA3 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to match DDG2P update for 09/01/2019. 'COFFIN-LOWRY SYNDROME 303600' phenotype replaced.
DDG2P v0.45 RPS6KA3 Rebecca Foulger Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME 303600 to Coffin-Lowry Syndrome 2 RPS6KA3 XLD; Coffin-Lowry Syndrome 2 RPS6KA3 XLR
DDG2P v0.44 HDAC8 Rebecca Foulger commented on gene: HDAC8: DDG2P updated 09/01/2019. Ratings confirmed for both 'CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR' and 'Cornelia de Lange Syndrome HDAC8 X-linked dominant'. MOP listed as 'loss of function' for both phenotypes.
DDG2P v0.44 HDAC8 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to reflect DDG2P update from 09/01/2019: 'WILSON-TURNER SYNDROME 309585' phenotype was removed.
DDG2P v0.44 HDAC8 Rebecca Foulger Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME 309585; CORNELIA DE LANGE-LIKE SYNDROME to CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR; Cornelia de Lange Syndrome HDAC8 X-linked dominant
Non-acute porphyrias v0.11 GATA1 Ivone Leong Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Non-acute porphyrias v0.10 GATA1 Ivone Leong Publications for gene: GATA1 were set to
Non-acute porphyrias v0.9 GATA1 Ivone Leong Mode of inheritance for gene: GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cholestasis v0.6 USP53 Ivone Leong Publications for gene: USP53 were set to
Intestinal failure v0.9 TTC37 Ivone Leong Publications for gene: TTC37 were set to
Intestinal failure v0.8 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850
Intestinal failure v0.7 MYO5B Ivone Leong Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure v0.6 MYO5B Ivone Leong Publications for gene: MYO5B were set to
Non-acute porphyrias v0.8 GATA1 Ivone Leong Tag watchlist tag was added to gene: GATA1.
Non-acute porphyrias v0.8 GATA1 Ivone Leong Classified gene: GATA1 as Amber List (moderate evidence)
Non-acute porphyrias v0.8 GATA1 Ivone Leong Added comment: Comment on list classification: Demoted from green to amber as there are only 3 cases associated with Non-Fanconi anaemia; however, variants in this gene will be reported with caution for non-acute porphyria. This is agreed upon by the gastrohepatology specialist group WebEx on 14th Jan 2019. Have put "watch list" taq.
Non-acute porphyrias v0.8 GATA1 Ivone Leong Gene: gata1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v0.61 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Hereditary spastic paraplegia - childhood onset v0.60 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v0.60 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.60 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.153 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Neurodegenerative disorders - adult onset v0.153 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.153 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who notes that "the phenotype is certainly appropriate, it meets our guidance on number of unrelated families and >1 variant therefore it seems appropriate for a green rating. Re the nomenclature: (6-bp deletion, c.862_868delACCAGG) c.862_868del would usually indicate that 862-868 inclusive is deleted which would be 7bp... However they then wrote 6 nucleotides afterwards. If it is 6bp deleted it could be in frame (they have indicated deletion YQ) so I am not sure. On balance I think it is worth including."
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - childhood onset v0.59 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v0.59 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.59 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.152 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Neurodegenerative disorders - adult onset v0.152 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.152 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain who says that Progressive spasticity seems to be a clear feature and there are sufficient cases.
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - childhood onset v0.58 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v0.58 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.58 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Green List (high evidence)
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who agrees that it seems appropriate to include in terms of phenotypic overlap. Sufficient unrelatd cases (>3) to support diagnostic rating.
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Green List (High Evidence).
Intestinal failure v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: mi; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 MYO5B Anna de Burca reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28027573; Phenotypes: Cholestasis, Microvillus inclusion disease with cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure v0.5 MYO5B Anna de Burca reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24014347, 29266534; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-acute porphyrias v0.7 GATA1 Anna de Burca reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25251786, 17148589; Phenotypes: Congenital erythropoietic porphyria; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v2.595 NR4A2 Konstantinos Varvagiannis commented on gene: NR4A2: In a study of 457 autism families (Feliciano et al. - doi.org/10.1101/516625) the authors provide phenotypic information on a further individual with ASD and ID. This subject (SP0041645 - SPARK cohort) harbored a de novo frameshift variant (p.G231fs using ENST00000409572.1 as reference). Table 2 includes also the individual previously reported by Iossifov et al. who also presented with ASD and ID (11172.p1 - SSC cohort - PMID and details discussed below).
Genetic epilepsy syndromes v1.13 ZMIZ1 Konstantinos Varvagiannis gene: ZMIZ1 was added
gene: ZMIZ1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to 29754769; 18053775; 17967885; 26163108; 27479843
Phenotypes for gene: ZMIZ1 were set to Global developmental delay; Intellectual disability; Feeding difficulties; Growth abnormality; Microcephaly; Abnormality of the skeletal system; Abnormality of the urinary system; Abnormality of the cardiovascular system; Abnormality of head or neck; Seizures
Penetrance for gene: ZMIZ1 were set to unknown
Review for gene: ZMIZ1 was set to AMBER
Added comment: Gene added in the ID panel. Seizures were noted in 3 unrelated individuals (with different variants) of the 19 reported to date. If the proportion of individuals with this feature is sufficient then this gene can be considered for inclusion in this panel.

-------
From the ID panel:

Carapito et al. (doi.org/10.1016/j.ajhg.2018.12.007 - PMID to add) report on 19 individuals with variants affecting ZMIZ1 (alternative symbols RAI17/KIAA1224/ZIMP10).

Features included DD/ID (19/19), feeding difficulties, growth failure, microcephaly and variable congenital malformations. Seizures were noted in 3 unrelated individuals (with different variants).

Variants included 6 missense SNVs, 5 frameshift variants, 1 splice site variant, 1 synonymous variant with probable impact on splicing (not studied) and 2 translocations.

In all individuals for whom parental studies were possible (n=16), the variants had occurred as de novo events while for 3 sibs harboring a frameshift variant parental samples were unavailable. These subjects however harbored the same variant as a DDD study participant included in the current report.

One translocation disrupted only ZMIZ1 while a second [t(X;10)] did not disrupt the coding sequence of any gene but only a distal enhancer 276 kb upstream of ZMIZ1. A previous study had found recurrent SNVs of the same region in ASD subjects and suggested possible interaction with the ZMIZ1 promoter (Liu et al. - PMID: 29754769).

The deleterious effect of both translocations was confirmed by quantitative RT-PCR. For 4 missense SNVs as well as a splice variant mRNA levels were similar to controls. The splice site (-2) variant was shown to produce 2 new splicing isoforms from utilization of alternative splice site acceptors.

ZMIZ1 belongs to the PIAS-like family of transcriptional coregulators.

Five missense variants were located in an alanine rich domain (aa 280-305). Seven other variants were predicted to shorten or remove the C-terminal transactivation domain.

This gene enhances - among others - the transcriptional activity of androgen receptor (AR). In vitro studies using HEK293T cell lines supported impaired coactivation of the AR for 3 variants studied. In utero electroporation of pathogenic variants in mouse embryos (E14.5) led to impaired neuronal positioning of the electroporated neurons and disruption of the morphology/polarization.

As the authors note previous studies have shown expression of Zimp10 in the developing mouse brain, craniofacial tissue as well as the interdigital region of limbs (PMIDs cited : 18053775 and 17967885) in line with ID, facial phenotype and syndactyly observed in some patients.

Finally the authors cite a previous report on an individual with ID due to a translocation [t(10;19)] disrupting both ZMIZ1 and PRR12 (Córdova-Fletes al. - PMID: 26163108). Although disruption of ZMIZ1 is discussed as a cause, PRR12 has recently been proposed as (also) an ID gene (Leduc et al. - PMID: 29556724). [For details see PRR12 in the current panel].
------------
One of the variants found in 2 unrelated individuals in the aforementioned study [NM_020338.3:c.899C>T or p.(T300M)] has been reported in a further individual investigated for ID in the context of a bigger cohort (Lelieveld et al. - PMID: 27479843).
[ Details in the denovo-db : http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZMIZ1 ]
------------
ZMIZ1 is not associated with any phenotype in OMIM, nor in G2P.
This gene has been included in gene panels for intellectual disability offered by some diagnostic laboratories.
------------
As a result, ZMIZ1 can be considered for inclusion in the ID panel as green.
Sources: Literature
Intellectual disability v2.595 ZMIZ1 Konstantinos Varvagiannis gene: ZMIZ1 was added
gene: ZMIZ1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to 29754769; 18053775; 17967885; 26163108; 27479843
Phenotypes for gene: ZMIZ1 were set to Global developmental delay; Intellectual disability; Feeding difficulties; Growth abnormality; Microcephaly; Abnormality of the skeletal system; Abnormality of the urinary system; Abnormality of the cardiovascular system; Abnormality of head or neck
Penetrance for gene: ZMIZ1 were set to unknown
Review for gene: ZMIZ1 was set to GREEN
gene: ZMIZ1 was marked as current diagnostic
Added comment: Carapito et al. (doi.org/10.1016/j.ajhg.2018.12.007 - PMID to add) report on 19 individuals with variants affecting ZMIZ1 (alternative symbols RAI17/KIAA1224/ZIMP10).

Features included DD/ID (19/19), feeding difficulties, growth failure, microcephaly and variable congenital malformations. Seizures were noted in 3 unrelated individuals (with different variants).

Variants included 6 missense SNVs, 5 frameshift variants, 1 splice site variant, 1 synonymous variant with probable impact on splicing (not studied) and 2 translocations.

In all individuals for whom parental studies were possible (n=16), the variants had occurred as de novo events while for 3 sibs harboring a frameshift variant parental samples were unavailable. These subjects however harbored the same variant as a DDD study participant included in the current report.

One translocation disrupted only ZMIZ1 while a second [t(X;10)] did not disrupt the coding sequence of any gene but only a distal enhancer 276 kb upstream of ZMIZ1. A previous study had found recurrent SNVs of the same region in ASD subjects and suggested possible interaction with the ZMIZ1 promoter (Liu et al. - PMID: 29754769).

The deleterious effect of both translocations was confirmed by quantitative RT-PCR. For 4 missense SNVs as well as a splice variant mRNA levels were similar to controls. The splice site (-2) variant was shown to produce 2 new splicing isoforms from utilization of alternative splice site acceptors.

ZMIZ1 belongs to the PIAS-like family of transcriptional coregulators.

Five missense variants were located in an alanine rich domain (aa 280-305). Seven other variants were predicted to shorten or remove the C-terminal transactivation domain.

This gene enhances - among others - the transcriptional activity of androgen receptor (AR). In vitro studies using HEK293T cell lines supported impaired coactivation of the AR for 3 variants studied. In utero electroporation of pathogenic variants in mouse embryos (E14.5) led to impaired neuronal positioning of the electroporated neurons and disruption of the morphology/polarization.

As the authors note previous studies have shown expression of Zimp10 in the developing mouse brain, craniofacial tissue as well as the interdigital region of limbs (PMIDs cited : 18053775 and 17967885) in line with ID, facial phenotype and syndactyly observed in some patients.

Finally the authors cite a previous report on an individual with ID due to a translocation [t(10;19)] disrupting both ZMIZ1 and PRR12 (Córdova-Fletes al. - PMID: 26163108). Although disruption of ZMIZ1 is discussed as a cause, PRR12 has recently been proposed as (also) an ID gene (Leduc et al. - PMID: 29556724). [For details see PRR12 in the current panel].
------------
One of the variants found in 2 unrelated individuals in the aforementioned study [NM_020338.3:c.899C>T or p.(T300M)] has been reported in a further individual investigated for ID in the context of a bigger cohort (Lelieveld et al. - PMID: 27479843).
[ Details in the denovo-db : http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZMIZ1 ]
------------
ZMIZ1 is not associated with any phenotype in OMIM, nor in G2P.
This gene has been included in gene panels for intellectual disability offered by some diagnostic laboratories.
------------
As a result, ZMIZ1 can be considered for inclusion in the ID panel as green.
Sources: Literature
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.17 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.17 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.16 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.15 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.15 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.14 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: DMPK_CTG.
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900
Review for STR: DMPK_CTG was set to GREEN
Added comment: Source PanelApp panels : Skeletal Muscle Channelopathies v1.11
Sources: Expert list
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.13 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.13 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.12 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.11 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.11 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.10 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.9 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.9 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.8 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Respiratory ciliopathies including non-CF bronchiectasis v0.4 NFKB2 Ian Berry gene: NFKB2 was added
gene: NFKB2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: NFKB2 was set to GREEN
gene: NFKB2 was marked as current diagnostic
Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 NFKB1 Ian Berry gene: NFKB1 was added
gene: NFKB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: NFKB1 was set to GREEN
Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 RAG2 Ian Berry gene: RAG2 was added
gene: RAG2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: RAG2 was set to GREEN
gene: RAG2 was marked as current diagnostic
Added comment: Results in varying severity phenotypes of immunodeficiency, including hypomorphic mutations resulting in CVID. Two patients have been seen in our bronchiectasis clinic with "leaky" RAG mutations and mild symptoms including bronchiectasis, with limited additional immunological findings. Bronchiectasis (with immunological phenotype) is a common feature of RAG-CVID, see e.g. PMID 24996264. Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 RAG1 Ian Berry gene: RAG1 was added
gene: RAG1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Penetrance for gene: RAG1 were set to unknown
Review for gene: RAG1 was set to GREEN
gene: RAG1 was marked as current diagnostic
Added comment: Results in varying severity phenotypes of immunodeficiency, including hypomorphic mutations resulting in CVID. Two patients have been seen in our bronchiectasis clinic with "leaky" RAG mutations and mild symptoms including bronchiectasis, with limited additional immunological findings. Bronchiectasis (with immunological phenotype) is a common feature of RAG-CVID, see e.g. PMID 24996264. Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 PIK3CD Ian Berry reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 29556229; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v0.4 PIK3R1 Ian Berry gene: PIK3R1 was added
gene: PIK3R1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PIK3R1 were set to PMID: 29556229
Penetrance for gene: PIK3R1 were set to unknown
Review for gene: PIK3R1 was set to GREEN
gene: PIK3R1 was marked as current diagnostic
Added comment: Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds. Causes a form of primary immunodeficiency which frequently results in bronchiectasis with limited additional immunological findings.
Sources: Expert Review
Diabetes - neonatal onset v1.13 ZFP57 Ivone Leong reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 STAT3 Ivone Leong reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 SLC2A2 Ivone Leong reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 RFX6 Ivone Leong reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 PTF1A Ivone Leong reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 PDX1 Ivone Leong reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 NKX2-2 Ivone Leong reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 NEUROG3 Ivone Leong reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 MNX1 Ivone Leong reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 LRBA Ivone Leong reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 LPL Ivone Leong reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 INS Ivone Leong reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 IL2RA Ivone Leong reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 IER3IP1 Ivone Leong reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 HNF1B Ivone Leong reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 GLIS3 Ivone Leong reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 GATA6 Ivone Leong reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 GATA4 Ivone Leong reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 FOXP3 Ivone Leong reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 EIF2S3 Ivone Leong reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 EIF2AK3 Ivone Leong reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 COQ9 Ivone Leong reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 COQ2 Ivone Leong reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 CISD2 Ivone Leong reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 BSCL2 Ivone Leong reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 AGPAT2 Ivone Leong reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.13 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Diabetes - neonatal onset v1.12 ZFP57 Ivone Leong Source NHS GMS was added to ZFP57.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 STAT3 Ivone Leong Source NHS GMS was added to STAT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 SLC2A2 Ivone Leong Source NHS GMS was added to SLC2A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 SLC19A2 Ivone Leong Source NHS GMS was added to SLC19A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 RFX6 Ivone Leong Source NHS GMS was added to RFX6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 PTF1A Ivone Leong Source NHS GMS was added to PTF1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 PDX1 Ivone Leong Source NHS GMS was added to PDX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 NKX2-2 Ivone Leong Source NHS GMS was added to NKX2-2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 NEUROG3 Ivone Leong Source NHS GMS was added to NEUROG3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 NEUROD1 Ivone Leong Source NHS GMS was added to NEUROD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 MNX1 Ivone Leong Source NHS GMS was added to MNX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 LRBA Ivone Leong Source NHS GMS was added to LRBA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 LPL Ivone Leong gene: LPL was added
gene: LPL was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: LPL was set to
Diabetes - neonatal onset v1.12 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 INSR Ivone Leong Source NHS GMS was added to INSR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 INS Ivone Leong Source NHS GMS was added to INS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 IL2RA Ivone Leong Source NHS GMS was added to IL2RA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 IER3IP1 Ivone Leong Source NHS GMS was added to IER3IP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 HNF1B Ivone Leong Source NHS GMS was added to HNF1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 GLIS3 Ivone Leong Source NHS GMS was added to GLIS3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 GCK Ivone Leong Source NHS GMS was added to GCK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 GATA6 Ivone Leong Source NHS GMS was added to GATA6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 GATA4 Ivone Leong Source NHS GMS was added to GATA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 FOXP3 Ivone Leong Source NHS GMS was added to FOXP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 EIF2S3 Ivone Leong gene: EIF2S3 was added
gene: EIF2S3 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: EIF2S3 was set to
Diabetes - neonatal onset v1.12 EIF2AK3 Ivone Leong Source NHS GMS was added to EIF2AK3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ9 was set to
Diabetes - neonatal onset v1.12 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ2 was set to
Diabetes - neonatal onset v1.12 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Diabetes - neonatal onset v1.12 BSCL2 Ivone Leong Source NHS GMS was added to BSCL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Diabetes - neonatal onset v1.12 AGPAT2 Ivone Leong Source NHS GMS was added to AGPAT2.
Diabetes - neonatal onset v1.12 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset movement disorder v0.43 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Adult onset movement disorder v0.43 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.42 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert list
Adult onset movement disorder v0.41 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Adult onset movement disorder v0.41 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.40 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.39 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Adult onset movement disorder v0.39 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.38 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Adult onset movement disorder v0.37 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Adult onset movement disorder v0.37 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.36 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.35 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset movement disorder v0.35 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.34 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.33 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Adult onset movement disorder v0.33 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.32 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset movement disorder v0.31 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset movement disorder v0.30 JPH3_CTG Louise Daugherty STR: JPH3_CTG was added
STR: JPH3_CTG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: JPH3_CTG.
Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438
Review for STR: JPH3_CTG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Adult onset movement disorder v0.29 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset movement disorder v0.29 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.28 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HTT_CAG were set to 24256063
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Non-acute porphyrias v0.7 ALAS2 Ivone Leong Source Other was added to ALAS2.
Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene ALAS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Publications for gene ALAS2 were changed from to 18760763; 23263862
Non-acute porphyrias v0.7 CPOX Ivone Leong Source Other was added to CPOX.
Mode of inheritance for gene CPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300 for gene: CPOX
Publications for gene CPOX were changed from to 27604308
Non-acute porphyrias v0.7 UROD Ivone Leong Source Other was added to UROD.
Mode of inheritance for gene UROD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD
Publications for gene UROD were changed from to 27604308
Non-acute porphyrias v0.7 FECH Ivone Leong Source Other was added to FECH.
Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Non-acute porphyrias v0.7 UROS Ivone Leong Source Other was added to UROS.
Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) for gene: UROS
Publications for gene UROS were changed from to 27604308
Non-acute porphyrias v0.7 ALAD Ivone Leong Source Other was added to ALAD.
Mode of inheritance for gene ALAD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD
Publications for gene ALAD were changed from to 27604308
Non-acute porphyrias v0.7 PPOX Ivone Leong Source Other was added to PPOX.
Mode of inheritance for gene PPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 for gene: PPOX
Publications for gene PPOX were changed from to 27604308; 19460837; 9811936
Non-acute porphyrias v0.7 HMBS Ivone Leong Source Other was added to HMBS.
Mode of inheritance for gene HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 for gene: HMBS
Publications for gene HMBS were changed from to 27604308
Adult onset movement disorder v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Adult onset movement disorder v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Adult onset movement disorder v0.26 CSTB_CCCCGCCCCGCG Louise Daugherty Chromosome for CSTB_CCCCGCCCCGCG was changed from 12 to 21. Panel: Adult onset movement disorder
Adult onset movement disorder v0.25 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Congenital hyperinsulinism v1.6 TRMT10A Ivone Leong reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 SLC16A1 Ivone Leong reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 PMM2 Ivone Leong reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 MAFA Ivone Leong reviewed gene: MAFA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KMT2D Ivone Leong reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KDM6A Ivone Leong reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HNF4A Ivone Leong reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HNF1A Ivone Leong reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HADH Ivone Leong reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GPC3 Ivone Leong reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GLUD1 Ivone Leong reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 FOXA2 Ivone Leong reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 CACNA1D Ivone Leong reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 AKT2 Ivone Leong reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hypothyroidism v1.10 CDCA8 Martina Owens gene: CDCA8 was added
gene: CDCA8 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism; thyroid dysgenesis
Penetrance for gene: CDCA8 were set to unknown
Mode of pathogenicity for gene: CDCA8 was set to Other
Review for gene: CDCA8 was set to AMBER
Added comment: Carre et al 2017 (PMID: 28025328) - Whole-exome sequencing of familial cases with thyroid dysgenesis: biallelic missense variants were found in 2 cases of one consanguineous family, and monoallelic variants in 2 other sporadic cases. Zou et al 2018 (PMID: 29546359) monallelic splice variant identified in patient with thyroid dysgenesis. Mechanistic role of CDCA8 in thyroid dysgenesis is still unclear.
Sources: Literature
Adult onset movement disorder v0.24 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Adult onset movement disorder v0.24 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Adult onset movement disorder v0.23 C9orf72_GGGGCC Louise Daugherty STR: C9orf72_GGGGCC was added
STR: C9orf72_GGGGCC was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: C9orf72_GGGGCC.
Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for STR: C9orf72_GGGGCC was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty edited their review of STR: CNBP_CCTG: Changed rating: RED
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG
Congenital hypothyroidism v1.10 TBL1X Martina Owens reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27603907, 30591955; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cholestasis v0.5 USP53 Anna de Burca reviewed gene: USP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30250217; Phenotypes: Paediatric cholestatic liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Adult onset movement disorder v0.22 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Adult onset movement disorder v0.22 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Adult onset movement disorder v0.21 ATN1_CAG Louise Daugherty Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370
Adult onset movement disorder v0.20 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert list
Polycystic liver disease v1.6 DNAJB11 Ivone Leong Classified gene: DNAJB11 as Green List (high evidence)
Polycystic liver disease v1.6 DNAJB11 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PMID: 29706351 showed 7 unrelated families with polycystic kidney disease with variants in DNAJB11 and 5 of these families have a polycystic liver phenotype.
Polycystic liver disease v1.6 DNAJB11 Ivone Leong Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v1.5 DNAJB11 Ivone Leong Mode of inheritance for gene: DNAJB11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polycystic liver disease v1.4 DNAJB11 Ivone Leong Publications for gene: DNAJB11 were set to
Congenital hyperinsulinism v1.5 TRMT10A Ivone Leong Source NHS GMS was added to TRMT10A.
Congenital hyperinsulinism v1.5 SLC16A1 Ivone Leong Source NHS GMS was added to SLC16A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 PMM2 Ivone Leong gene: PMM2 was added
gene: PMM2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: PMM2 was set to
Congenital hyperinsulinism v1.5 MAFA Ivone Leong gene: MAFA was added
gene: MAFA was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: MAFA was set to
Congenital hyperinsulinism v1.5 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: KMT2D was set to
Congenital hyperinsulinism v1.5 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: KDM6A was set to
Congenital hyperinsulinism v1.5 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 INSR Ivone Leong Source NHS GMS was added to INSR.
Congenital hyperinsulinism v1.5 HNF4A Ivone Leong Source NHS GMS was added to HNF4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 HNF1A Ivone Leong Source NHS GMS was added to HNF1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 HADH Ivone Leong Source NHS GMS was added to HADH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 GPC3 Ivone Leong gene: GPC3 was added
gene: GPC3 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: GPC3 was set to
Congenital hyperinsulinism v1.5 GLUD1 Ivone Leong Source NHS GMS was added to GLUD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 GCK Ivone Leong Source NHS GMS was added to GCK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 FOXA2 Ivone Leong gene: FOXA2 was added
gene: FOXA2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: FOXA2 was set to
Congenital hyperinsulinism v1.5 CACNA1D Ivone Leong gene: CACNA1D was added
gene: CACNA1D was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: CACNA1D was set to
Congenital hyperinsulinism v1.5 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: AKT2 was set to
Congenital hyperinsulinism v1.5 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amelogenesis imperfecta v1.7 RELT Claire Smith gene: RELT was added
gene: RELT was added to Amelogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELT were set to PMID: 30506946
Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic)
Penetrance for gene: RELT were set to Complete
Review for gene: RELT was set to GREEN
Added comment: PMID: 30506946 present evidence of three consanguineous Turkish families with irregular hypoplastic amelogenesis imperfecta. The authors also present a Relt-/- mouse model with incisor and molar enamel malformations. RELT should be included as a causative gene in diagnostic panels for AR AI in future.
Sources: Literature
Monogenic diabetes v0.8 ZFP57 Ivone Leong reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 ZBTB20 Ivone Leong reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 TRMT10A Ivone Leong reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 SLC29A3 Ivone Leong reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 RFX6 Ivone Leong reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PPP1R15B Ivone Leong reviewed gene: PPP1R15B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PPARG Ivone Leong reviewed gene: PPARG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 POLD1 Ivone Leong reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PLIN1 Ivone Leong reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PIK3R1 Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PDX1 Ivone Leong reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PCBD1 Ivone Leong reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PAX6 Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 MT-TL1 Ivone Leong reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 INS Ivone Leong reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF4A Ivone Leong reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF1B Ivone Leong reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF1A Ivone Leong reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GATA6 Ivone Leong reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GATA4 Ivone Leong reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DYRK1B Ivone Leong reviewed gene: DYRK1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DNAJC3 Ivone Leong reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DCAF17 Ivone Leong reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 CISD2 Ivone Leong reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 CEL Ivone Leong reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 APPL1 Ivone Leong reviewed gene: APPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 AKT2 Ivone Leong reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.7 ZFP57 Ivone Leong Source NHS GMS was added to ZFP57.
Monogenic diabetes v0.7 ZBTB20 Ivone Leong Source NHS GMS was added to ZBTB20.
Monogenic diabetes v0.7 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Monogenic diabetes v0.7 TRMT10A Ivone Leong Source NHS GMS was added to TRMT10A.
Monogenic diabetes v0.7 SLC29A3 Ivone Leong Source NHS GMS was added to SLC29A3.
Monogenic diabetes v0.7 RFX6 Ivone Leong Source NHS GMS was added to RFX6.
Monogenic diabetes v0.7 PPP1R15B Ivone Leong gene: PPP1R15B was added
gene: PPP1R15B was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: PPP1R15B was set to
Monogenic diabetes v0.7 PPARG Ivone Leong Source NHS GMS was added to PPARG.
Monogenic diabetes v0.7 POLD1 Ivone Leong Source NHS GMS was added to POLD1.
Monogenic diabetes v0.7 PLIN1 Ivone Leong Source NHS GMS was added to PLIN1.
Monogenic diabetes v0.7 PIK3R1 Ivone Leong Source NHS GMS was added to PIK3R1.
Monogenic diabetes v0.7 PDX1 Ivone Leong Source NHS GMS was added to PDX1.
Monogenic diabetes v0.7 PCBD1 Ivone Leong Source NHS GMS was added to PCBD1.
Monogenic diabetes v0.7 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: PAX6 was set to
Monogenic diabetes v0.7 NEUROD1 Ivone Leong Source NHS GMS was added to NEUROD1.
Monogenic diabetes v0.7 MT-TL1 Ivone Leong Source NHS GMS was added to MT-TL1.
Monogenic diabetes v0.7 LMNA Ivone Leong Source NHS GMS was added to LMNA.
Monogenic diabetes v0.7 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Monogenic diabetes v0.7 INSR Ivone Leong Source NHS GMS was added to INSR.
Monogenic diabetes v0.7 INS Ivone Leong Source NHS GMS was added to INS.
Monogenic diabetes v0.7 HNF4A Ivone Leong Source NHS GMS was added to HNF4A.
Monogenic diabetes v0.7 HNF1B Ivone Leong Source NHS GMS was added to HNF1B.
Monogenic diabetes v0.7 HNF1A Ivone Leong Source NHS GMS was added to HNF1A.
Monogenic diabetes v0.7 GCK Ivone Leong Source NHS GMS was added to GCK.
Monogenic diabetes v0.7 GATA6 Ivone Leong Source NHS GMS was added to GATA6.
Monogenic diabetes v0.7 GATA4 Ivone Leong Source NHS GMS was added to GATA4.
Monogenic diabetes v0.7 DYRK1B Ivone Leong gene: DYRK1B was added
gene: DYRK1B was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: DYRK1B was set to
Monogenic diabetes v0.7 DNAJC3 Ivone Leong gene: DNAJC3 was added
gene: DNAJC3 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: DNAJC3 was set to
Monogenic diabetes v0.7 DCAF17 Ivone Leong Source NHS GMS was added to DCAF17.
Monogenic diabetes v0.7 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Monogenic diabetes v0.7 CEL Ivone Leong Source NHS GMS was added to CEL.
Monogenic diabetes v0.7 APPL1 Ivone Leong gene: APPL1 was added
gene: APPL1 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: APPL1 was set to
Monogenic diabetes v0.7 AKT2 Ivone Leong Source NHS GMS was added to AKT2.
Monogenic diabetes v0.7 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Familial hyperparathyroidism v0.25 AP2S1 Ivone Leong Marked gene: AP2S1 as ready
Familial hyperparathyroidism v0.25 AP2S1 Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence).
Familial hyperparathyroidism v0.25 AP2S1 Ivone Leong Classified gene: AP2S1 as Green List (high evidence)
Familial hyperparathyroidism v0.25 AP2S1 Ivone Leong Added comment: Comment on list classification: Have given AP2S1 a green gene status as recommended by Treena Cranston's (Oxford) review.
Familial hyperparathyroidism v0.25 AP2S1 Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.11 KIAA1161 Raquel Real gene: KIAA1161 was added
gene: KIAA1161 was added to Intracerebral calcification disorders. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467
Phenotypes for gene: KIAA1161 were set to Primary Familial Brain Calcification
Penetrance for gene: KIAA1161 were set to unknown
Review for gene: KIAA1161 was set to GREEN
Added comment: Yao et al (2018) identified 9 biallelic mutations in MYORG in 6 families with autosomal recessive Primary Familial Brain Calcification (PFBC) that co-segregated completely with the disease. MYORG mutations accounted for 46% of PFBC families with recessive mode of inheritance. No mutations were found in 1000 healthy controls. In a KO mouse model, brain calcium phosphate deposits could be observed. In a more recent study, Chen et al (2018) also identified 4 biallelic mutations segregating in 4 autosomal recessive PFBC families.
Sources: Literature
Refuted genes v0.12 TMPO Louise Daugherty Phenotypes for gene: TMPO were changed from Dilated Cardiomyopathy; OMIM:115200 to Dilated Cardiomyopathy, 115200
Neurodegenerative disorders - adult onset v0.151 AIMP1 Louise Daugherty Added comment: Comment on phenotypes: amended phenotype name from OMIM
Neurodegenerative disorders - adult onset v0.151 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 260600 to Leukodystrophy, hypomyelinating, 3, 260600
Neurodegenerative disorders - adult onset v0.150 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 260600
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Classified gene: TBX1 as Red List (low evidence)
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Added comment: Comment on list classification: PMID: 30137364 reports on 2 unrelated families who have hypoparathyroidism and have splice variants in the TBX1 gene that leads to exon skipping.
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Gene: tbx1 has been classified as Red List (Low Evidence).
Familial hypoparathyroidism v1.9 TBX1 Ivone Leong Publications for gene: TBX1 were set to PMID: 30137364
Familial hyperparathyroidism v0.24 AP2S1 Ivone Leong Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527
Familial hyperparathyroidism v0.23 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3; Hypocalciuric hypercalcemia, type III, 600740 to Hypocalciuric hypercalcemia, type III, 600740
Familial hyperparathyroidism v0.22 AP2S1 Ivone Leong Mode of inheritance for gene: AP2S1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial hyperparathyroidism v0.21 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3 to FHH3; Hypocalciuric hypercalcemia, type III, 600740
Familial hyperparathyroidism v0.20 RET Ivone Leong Phenotypes for gene: RET were changed from Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400) to Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400)/MEN3
Familial hyperparathyroidism v0.19 RET Ivone Leong Publications for gene: RET were set to
Familial hyperparathyroidism v0.18 MEN1 Ivone Leong Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia 1 (131100) to Multiple endocrine neoplasia 1 (131100); Familial isolated hyperparathyroidism
Familial hyperparathyroidism v0.17 MEN1 Ivone Leong Publications for gene: MEN1 were set to
Familial hyperparathyroidism v0.16 GCM2 Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504; 14715834
Epidermolysis bullosa and congenital skin fragility v0.11 DSG3 John McGrath reviewed gene: DSG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial hyperparathyroidism v0.15 CDKN1B Ivone Leong Publications for gene: CDKN1B were set to
Familial hyperparathyroidism v0.14 CASR Ivone Leong Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198) to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1
Familial hyperparathyroidism v0.13 CASR Ivone Leong Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635
Familial hyperparathyroidism v0.12 CDC73 Ivone Leong Publications for gene: CDC73 were set to 12434154; 15531515
Familial hypoparathyroidism v1.8 TBCE Treena Cranston reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hypoparathyroidism v1.8 TBX1 Treena Cranston gene: TBX1 was added
gene: TBX1 was added to Familial hypoparathyroidism. Sources: Other
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX1 were set to PMID: 30137364
Penetrance for gene: TBX1 were set to unknown
Review for gene: TBX1 was set to RED
Added comment: Red evidence to date but recent publication of this gene (PMID: 30137364) showing association with isolated hypoparathyroidism. Too early for diagnostic panels but of interest for research, so flagging for future consideration
Sources: Other
Dystonia - childhood onset v1.0 Louise Daugherty promoted panel to version 1.0
Dystonia - childhood onset v0.42 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Adult onset movement disorder v0.19 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Structural basal ganglia disorders v1.11 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Adult onset movement disorder v0.18 SDHA Louise Daugherty Phenotypes for gene: SDHA were changed from to Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011
Dystonia - childhood onset v0.41 SDHA Louise Daugherty Phenotypes for gene: SDHA were changed from to Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011
Familial hyperparathyroidism v0.11 CDKN2C Treena Cranston reviewed gene: CDKN2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism v0.11 CDKN2B Treena Cranston reviewed gene: CDKN2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Adult onset movement disorder v0.17 SUCLG1 Louise Daugherty Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Dystonia - childhood onset v0.40 SUCLG1 Louise Daugherty Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Familial hyperparathyroidism v0.11 CDKN1A Treena Cranston edited their review of gene: CDKN1A: Changed rating: RED
Adult onset movement disorder v0.16 SURF1 Louise Daugherty Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Dystonia - childhood onset v0.39 SURF1 Louise Daugherty Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Familial hyperparathyroidism v0.11 CDKN1A Treena Cranston reviewed gene: CDKN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset movement disorder v0.15 BCS1L Louise Daugherty Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, 262000; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Dystonia - childhood onset v0.38 BCS1L Louise Daugherty Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, 262000; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Adult onset movement disorder v0.14 COX10 Louise Daugherty Phenotypes for gene: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110
Dystonia - childhood onset v0.37 COX10 Louise Daugherty Phenotypes for gene: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110
Adult onset movement disorder v0.13 COX15 Louise Daugherty Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Dystonia - childhood onset v0.36 COX15 Louise Daugherty Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Adult onset movement disorder v0.12 NDUFAF2 Louise Daugherty Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, 618233
Dystonia - childhood onset v0.35 NDUFAF2 Louise Daugherty Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, 618233
Dystonia - childhood onset v0.34 NDUFS7 Louise Daugherty Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224
Adult onset movement disorder v0.11 NDUFS7 Louise Daugherty Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224
Dystonia - childhood onset v0.33 NDUFS8 Louise Daugherty Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2, 618222
Adult onset movement disorder v0.10 NDUFS8 Louise Daugherty Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2, 618222
Dystonia - childhood onset v0.32 NDUFV1 Louise Daugherty Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, 252010
Adult onset movement disorder v0.9 NDUFV1 Louise Daugherty Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, 252010
Familial hyperparathyroidism v0.11 AP2S1 Treena Cranston gene: AP2S1 was added
gene: AP2S1 was added to Familial hyperparathyroidism. Sources: Expert Review
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527
Phenotypes for gene: AP2S1 were set to FHH3
Penetrance for gene: AP2S1 were set to unknown
gene: AP2S1 was marked as current diagnostic
Added comment: pathogenic mutations affecting codon 15 of AP2S1 are causative of FHH3. There can be clinical overlap between hyperparathyroidism and FHH and as such AP2S1, which is a simple test should be considered as part of the differential diagnosis. In our own cohort of individuals referred for the hyperparathyroidism panel we have detected 2 individuals with pathogenic AP2S1 variants (unpublished).
Due to clinical overlap and clinical management of the different conditions, Inclusion of the FHH genes on hyperparathyroidism gene panel lists is a recommendation from an international workshop: Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop PMID: 25162666
Sources: Expert Review
Ataxia and cerebellar anomalies - narrow panel v1.0 Louise Daugherty promoted panel to version 1.0
Inborn errors of metabolism v1.34 PPA2 Louise Daugherty Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
Cardiomyopathies - including childhood onset v0.60 PPA2 Louise Daugherty Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
Undiagnosed metabolic disorders v1.84 PPA2 Louise Daugherty Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
Inborn errors of metabolism v1.33 PRKAG2 Louise Daugherty Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200
Hereditary ataxia v1.199 PRRT2 Louise Daugherty Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751
Ataxia and cerebellar anomalies - narrow panel v0.74 PRRT2 Louise Daugherty Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751
Familial hyperparathyroidism v0.11 RET Treena Cranston reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28740527, PMID: 25162666; Phenotypes: MEN2A, MEN3/MEN2B; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cardiomyopathies - including childhood onset v0.59 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369 to Salla disease, 604369; Sialic acid storage disorder, infantile, 269920
Inborn errors of metabolism v1.32 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369 to Salla disease, 604369; Sialic acid storage disorder, infantile, 269920
Molecular autopsy v0.53 SLC17A5 Louise Daugherty Publications for gene: SLC17A5 were set to Salla disease, 604369
Molecular autopsy v0.52 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from to Sialic acid storage disorder, infantile, 269920; Salla disease, 604369
Inborn errors of metabolism v1.31 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from to Salla disease, 604369
Molecular autopsy v0.51 SLC17A5 Louise Daugherty Publications for gene: SLC17A5 were set to
Cardiomyopathies - including childhood onset v0.58 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from to Salla disease, 604369
Hereditary ataxia v1.198 SLC2A1 Louise Daugherty Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Ataxia and cerebellar anomalies - narrow panel v0.73 SLC2A1 Louise Daugherty Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Familial hyperparathyroidism v0.11 GCM2 Treena Cranston reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27745835, PMID: 29264504, PMID: 29199197; Phenotypes: hyperparathyroidism, hypoparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inborn errors of metabolism v1.30 SMPD1 Louise Daugherty Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616
Molecular autopsy v0.50 SMPD1 Louise Daugherty Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616
Cardiomyopathies - including childhood onset v0.57 SMPD1 Louise Daugherty Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616
Cardiomyopathies - including childhood onset v0.56 PHKA1 Louise Daugherty Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, 300559
Molecular autopsy v0.49 PHKA1 Louise Daugherty Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, 300559
Inborn errors of metabolism v1.29 PHKA1 Louise Daugherty Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, 300559
Molecular autopsy v0.48 NPC2 Louise Daugherty Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625
Cardiomyopathies - including childhood onset v0.55 NPC2 Louise Daugherty Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625
Inborn errors of metabolism v1.28 NPC2 Louise Daugherty Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625
Ataxia and cerebellar anomalies - narrow panel v0.72 NPC2 Louise Daugherty Phenotypes for gene: NPC2 were changed from Niemann-Pick disease type C2 (#607625) to Niemann-Pick disease type C2, 607625
Inborn errors of metabolism v1.27 CLN3 Louise Daugherty Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, 204200
Molecular autopsy v0.47 CLN3 Louise Daugherty Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, 204200
Molecular autopsy v0.47 CLN3 Louise Daugherty Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, 204200
Cardiomyopathies - including childhood onset v0.54 CLN3 Louise Daugherty Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, 204200
Inborn errors of metabolism v1.26 CLN5 Louise Daugherty Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, 256731
Molecular autopsy v0.46 CLN5 Louise Daugherty Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, 256731
Cardiomyopathies - including childhood onset v0.53 CLN5 Louise Daugherty Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, 256731
Inborn errors of metabolism v1.25 CTH Louise Daugherty Phenotypes for gene: CTH were changed from to Cystathioninuria, 219500
Molecular autopsy v0.45 CTH Louise Daugherty Phenotypes for gene: CTH were changed from to Cystathioninuria, 219500
Cardiomyopathies - including childhood onset v0.52 CTH Louise Daugherty Phenotypes for gene: CTH were changed from to Cystathioninuria, 219500
Inborn errors of metabolism v1.24 CTSD Louise Daugherty Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Molecular autopsy v0.44 CTSD Louise Daugherty Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Cardiomyopathies - including childhood onset v0.51 CTSD Louise Daugherty Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Inborn errors of metabolism v1.23 DNAJC5 Louise Daugherty Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Molecular autopsy v0.43 DNAJC5 Louise Daugherty Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Cardiomyopathies - including childhood onset v0.50 DNAJC5 Louise Daugherty Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Molecular autopsy v0.42 FAR1 Louise Daugherty Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Inborn errors of metabolism v1.22 FAR1 Louise Daugherty Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Inborn errors of metabolism v1.21 FAR1 Louise Daugherty Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Cardiomyopathies - including childhood onset v0.49 FAR1 Louise Daugherty Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Cardiomyopathies - including childhood onset v0.48 FUCA1 Louise Daugherty Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000
Inborn errors of metabolism v1.20 FUCA1 Louise Daugherty Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000
Molecular autopsy v0.41 FUCA1 Louise Daugherty Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000
Cardiomyopathies - including childhood onset v0.47 GAA Louise Daugherty Phenotypes for gene: GAA were changed from syndromic HCM to syndromic HCM; Glycogen storage disease II, 232300
Inborn errors of metabolism v1.19 GAA Louise Daugherty Phenotypes for gene: GAA were changed from to Glycogen storage disease II, 232300
Molecular autopsy v0.40 GAA Louise Daugherty Phenotypes for gene: GAA were changed from syndromic HCM to syndromic HCM; Glycogen storage disease II, 232300
Molecular autopsy v0.39 GALK1 Louise Daugherty Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200
Inborn errors of metabolism v1.18 GALK1 Louise Daugherty Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200
Cardiomyopathies - including childhood onset v0.46 GALK1 Louise Daugherty Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200
Molecular autopsy v0.38 GCDH Louise Daugherty Phenotypes for gene: GCDH were changed from to Glutaricaciduria, type I, 231670
Inborn errors of metabolism v1.17 GCDH Louise Daugherty Phenotypes for gene: GCDH were changed from to Glutaricaciduria, type I, 231670
Cardiomyopathies - including childhood onset v0.45 GCDH Louise Daugherty Phenotypes for gene: GCDH were changed from to Glutaricaciduria, type I, 231670
Cardiomyopathies - including childhood onset v0.44 GLDC Louise Daugherty Phenotypes for gene: GLDC were changed from to Glycine encephalopathy, 605899
Molecular autopsy v0.37 GLDC Louise Daugherty Phenotypes for gene: GLDC were changed from to Glycine encephalopathy, 605899
Inborn errors of metabolism v1.16 GLDC Louise Daugherty Phenotypes for gene: GLDC were changed from to Glycine encephalopathy, 605899
Inborn errors of metabolism v1.15 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750
Molecular autopsy v0.36 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750
Cardiomyopathies - including childhood onset v0.43 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750
Familial hyperparathyroidism v0.11 MEN1 Treena Cranston reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN1, familial isolated hyperparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism v0.11 CDKN1B Treena Cranston reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism v0.11 CASR Treena Cranston reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: familial isolated hyperparathyroidism, FHH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
White matter disorders and cerebral calcification - narrow panel v1.5 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792
Inherited white matter disorders v1.60 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792
Cardiomyopathies - including childhood onset v0.42 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, 236792
Molecular autopsy v0.35 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, 236792
Inborn errors of metabolism v1.14 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, 236792
Familial hyperparathyroidism v0.11 CDC73 Treena Cranston reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20052758, PMID: 28740527; Phenotypes: Familial isolated hyperparathyroidism, Hyperparathyroidism Jaw Tumour syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inborn errors of metabolism v1.13 LMBRD1 Louise Daugherty Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, 277380
Molecular autopsy v0.34 LMBRD1 Louise Daugherty Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, 277380
Intellectual disability v2.595 LMBRD1 Louise Daugherty Phenotypes for gene: LMBRD1 were changed from Gene2Phenotype confirmed gene with ID HPO to Gene2Phenotype confirmed gene with ID HPO; Methylmalonic aciduria and homocystinuria, cblF type, 277380
Cardiomyopathies - including childhood onset v0.41 LMBRD1 Louise Daugherty Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, 277380
Cardiomyopathies - including childhood onset v0.40 MCCC1 Louise Daugherty Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200
Molecular autopsy v0.33 MCCC1 Louise Daugherty Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200
Inborn errors of metabolism v1.12 MCCC1 Louise Daugherty Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200
Inborn errors of metabolism v1.11 MCCC2 Louise Daugherty Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210
Molecular autopsy v0.32 MCCC2 Louise Daugherty Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210
Molecular autopsy v0.31 MFSD8 Louise Daugherty Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951 to Ceroid lipofuscinosis, neuronal, 7 610951
Molecular autopsy v0.30 MFSD8 Louise Daugherty Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 61095 to Ceroid lipofuscinosis, neuronal, 7 610951
Inborn errors of metabolism v1.10 MFSD8 Louise Daugherty Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 61095
Molecular autopsy v0.29 MFSD8 Louise Daugherty Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 61095
Cardiomyopathies - including childhood onset v0.39 MFSD8 Louise Daugherty Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951
Hereditary ataxia - adult onset v1.0 Louise Daugherty promoted panel to version 1.0
Neurodegenerative disorders - adult onset v0.149 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Hereditary ataxia v1.197 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Hereditary ataxia - adult onset v0.82 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Ataxia and cerebellar anomalies - narrow panel v0.71 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Ataxia and cerebellar anomalies - narrow panel v0.70 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Hereditary ataxia - adult onset v0.81 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Hereditary ataxia v1.196 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Neurodegenerative disorders - adult onset v0.148 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from Dystonia to Dystonia; Mental retardation, X-linked syndromic 5, 304340
Neurodegenerative disorders - adult onset v0.147 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679
Hereditary ataxia v1.195 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679
Hereditary ataxia - adult onset v0.80 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 616795
Hereditary ataxia - adult onset v0.79 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Hereditary ataxia v1.194 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Neurodegenerative disorders - adult onset v0.146 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Ataxia and cerebellar anomalies - narrow panel v0.69 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Ataxia and cerebellar anomalies - narrow panel v0.68 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Neurodegenerative disorders - adult onset v0.145 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Hereditary ataxia v1.193 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Hereditary ataxia - adult onset v0.78 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Hereditary ataxia - adult onset v0.77 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Hereditary ataxia v1.192 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Neurodegenerative disorders - adult onset v0.144 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Ataxia and cerebellar anomalies - narrow panel v0.67 CHMP1A Louise Daugherty Publications for gene: CHMP1A were set to PMID: 23023333
Ataxia and cerebellar anomalies - narrow panel v0.66 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 8; Pontocerebellar hypoplasia,type 8,614961; Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Neurodegenerative disorders - adult onset v0.143 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Hereditary ataxia v1.191 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Hereditary ataxia - adult onset v0.76 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Inborn errors of metabolism v1.9 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Hereditary ataxia - adult onset v0.75 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Hereditary ataxia v1.190 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Neurodegenerative disorders - adult onset v0.142 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Ataxia and cerebellar anomalies - narrow panel v0.65 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Molecular autopsy v0.28 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Genetic epilepsy syndromes v1.13 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Cardiomyopathies - including childhood onset v0.38 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Hereditary ataxia - adult onset v0.74 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Adult solid tumours for rare disease v1.21 VHL Anna de Burca reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28785532; Phenotypes: von Hippel-Lindau syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited white matter disorders v1.59 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
White matter disorders and cerebral calcification - narrow panel v1.4 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia - adult onset v0.73 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia v1.189 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Hereditary ataxia - adult onset v0.72 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Neurodegenerative disorders - adult onset v0.141 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Ataxia and cerebellar anomalies - narrow panel v0.64 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Molecular autopsy v0.27 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only; OXPHOS assembly factors)
Inborn errors of metabolism v1.8 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only; OXPHOS assembly factors
Cardiomyopathies - including childhood onset v0.37 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only; OXPHOS assembly factors
Early onset dystonia v1.78 CP Louise Daugherty Phenotypes for gene: CP were changed from Dystonia; Aceruloplasminemia to Dystonia; Aceruloplasminemia; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Cardiomyopathies - including childhood onset v0.36 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Inborn errors of metabolism v1.7 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Molecular autopsy v0.26 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Ataxia and cerebellar anomalies - narrow panel v0.63 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Neurodegenerative disorders - adult onset v0.140 CP Louise Daugherty Phenotypes for gene: CP were changed from Dystonia; Aceruloplasminemia; Cerebellar ataxia, to Dystonia; Aceruloplasminemia; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Hereditary ataxia - adult onset v0.71 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Hereditary ataxia v1.188 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Intellectual disability v2.594 CWF19L1 Louise Daugherty Publications for gene: CWF19L1 were set to 25361784
Hereditary ataxia v1.187 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Hereditary ataxia - adult onset v0.70 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Neurodegenerative disorders - adult onset v0.139 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Intellectual disability v2.593 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from Spinocerebellar ataxia, autosomal recessive 17 (MIM 616127) to Spinocerebellar ataxia, autosomal recessive 17, 616127
Hereditary ataxia v1.186 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia v1.185 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
Ataxia and cerebellar anomalies - narrow panel v0.62 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
White matter disorders and cerebral calcification - narrow panel v1.3 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia - adult onset v0.69 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia v1.184 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to
Molecular autopsy v0.25 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
Inborn errors of metabolism v1.6 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
Cataracts v1.24 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
Inherited white matter disorders v1.58 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700
Inherited white matter disorders v1.57 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Ataxia and cerebellar anomalies - narrow panel v0.61 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
White matter disorders and cerebral calcification - narrow panel v1.2 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Neurodegenerative disorders - adult onset v0.138 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Hereditary ataxia - adult onset v0.68 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Hereditary ataxia v1.183 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Hereditary ataxia v1.182 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Hereditary ataxia - adult onset v0.67 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Neurodegenerative disorders - adult onset v0.137 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
White matter disorders and cerebral calcification - narrow panel v1.1 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from Neurodegeneration due to cerebral folate transport deficiency to Neurodegeneration due to cerebral folate transport deficiency, 613068
Neurodegenerative disorders - adult onset v0.136 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Hereditary ataxia - adult onset v0.66 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Hereditary ataxia v1.181 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Ataxia and cerebellar anomalies - narrow panel v0.60 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Hereditary spastic paraplegia - childhood onset v0.57 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Ataxia and cerebellar anomalies - narrow panel v0.59 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary ataxia v1.180 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary ataxia - adult onset v0.65 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Neurodegenerative disorders - adult onset v0.135 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Hereditary ataxia v1.179 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Ataxia and cerebellar anomalies - narrow panel v0.58 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Hereditary spastic paraplegia - childhood onset v0.56 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Hereditary spastic paraplegia v1.182 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Hereditary spastic paraplegia v1.181 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Neurodegenerative disorders - adult onset v0.134 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary ataxia - adult onset v0.64 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
Genetic epilepsy syndromes v1.12 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1 149400 to Hyperekplexia, hereditary 1, 149400; Hyperekplexia; developmental delay; infantile spasms and generalized tonic-clonic seizures
Dystonia - childhood onset v0.31 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Adult onset movement disorder v0.8 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.7 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Brain channelopathy v1.52 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Hereditary ataxia - adult onset v0.63 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Neurodegenerative disorders - adult onset v0.133 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Molecular autopsy v0.24 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Cardiomyopathies - including childhood onset v0.35 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Inborn errors of metabolism v1.5 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Undiagnosed metabolic disorders v1.83 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Sudden death in young people v1.11 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Genetic epilepsy syndromes v1.11 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from Hyperekplexia 2 614619 to Hyperekplexia 2, 614619
Dystonia - childhood onset v0.30 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Adult onset movement disorder v0.7 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.6 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Brain channelopathy v1.51 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Hereditary ataxia - adult onset v0.62 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Neurodegenerative disorders - adult onset v0.132 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Neurodegenerative disorders - adult onset v0.131 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204) to Spinocerebellar ataxia, autosomal recessive 18, 616204
Hereditary ataxia v1.178 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204
Hereditary ataxia v1.177 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Neurodegenerative disorders - adult onset v0.130 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Ataxia and cerebellar anomalies - narrow panel v0.57 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Hereditary ataxia - adult onset v0.61 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204
Ataxia and cerebellar anomalies - narrow panel v0.56 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204) to Spinocerebellar ataxia, autosomal recessive 18, 616204
Genetic epilepsy syndromes v1.10 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from Tay-Sachs disease, 272800 to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Hereditary ataxia v1.176 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Neurodegenerative disorders - adult onset v0.129 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Hereditary ataxia - adult onset v0.60 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Ataxia and cerebellar anomalies - narrow panel v0.55 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Molecular autopsy v0.23 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Cardiomyopathies - including childhood onset v0.34 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Inborn errors of metabolism v1.4 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Intellectual disability v2.592 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from Tay-Sachs disease, 272800GM2-gangliosidosis, several forms, 272800[Hex A pseudodeficiency], 272800; GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1) to Tay-Sachs disease, 272800; GM2-gangliosidosis, several forms, 272800; GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1)
Genetic epilepsy syndromes v1.9 HEXB Louise Daugherty Mode of inheritance for gene: HEXB was changed from to BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v1.8 HEXB Louise Daugherty Publications for gene: HEXB were set to
Genetic epilepsy syndromes v1.7 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Hereditary ataxia v1.175 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Neurodegenerative disorders - adult onset v0.128 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Hereditary ataxia - adult onset v0.59 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Ataxia and cerebellar anomalies - narrow panel v0.54 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Molecular autopsy v0.22 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Cardiomyopathies - including childhood onset v0.33 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Inborn errors of metabolism v1.3 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Inborn errors of metabolism v1.2 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Cardiomyopathies - including childhood onset v0.32 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Molecular autopsy v0.21 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Ataxia and cerebellar anomalies - narrow panel v0.53 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Ataxia and cerebellar anomalies - narrow panel v0.52 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Hereditary ataxia - adult onset v0.58 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Neurodegenerative disorders - adult onset v0.127 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Neurodegenerative disorders - adult onset v0.126 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Hereditary ataxia v1.174 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Hereditary ataxia v1.173 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Hereditary ataxia v1.172 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Neurodegenerative disorders - adult onset v0.125 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Hereditary ataxia - adult onset v0.57 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Fetal anomalies v0.61 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from MENTAL RETARDATION X-LINKED OPHN1-RELATED to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Fetal anomalies v0.60 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from MARINESCO-SJOEGREN SYNDROME to Marinesco-Sjogren syndrome, 248800
Hereditary ataxia - adult onset v0.56 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Neurodegenerative disorders - adult onset v0.124 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Ataxia and cerebellar anomalies - narrow panel v0.51 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Hereditary ataxia v1.171 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Neuromuscular disorders v1.1 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, 248800
Cataracts v1.23 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, 248800
Vici Syndrome and other autophagy disorders v1.2 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-sjoegren syndrome (wuth phenotypical overlap with Vici syndrome) to Marinesco-sjoegren syndrome (with phenotypical overlap with Vici syndrome); Marinesco-Sjogren syndrome, 248800
Brain channelopathy v1.50 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Brain channelopathy v1.49 SLC6A5 Louise Daugherty Publications for gene: SLC6A5 were set to 16751771;
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.5 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Adult onset movement disorder v0.6 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Dystonia - childhood onset v0.29 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Fetal anomalies v0.59 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from HYPEREKPLEXIA to Hyperekplexia 3, 614618
Hereditary ataxia - adult onset v0.55 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Neurodegenerative disorders - adult onset v0.123 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Neurodegenerative disorders - adult onset v0.122 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Ataxia and cerebellar anomalies - narrow panel v0.50 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Hereditary ataxia v1.170 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Hereditary ataxia - adult onset v0.54 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Hereditary ataxia - adult onset v0.53 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Hereditary ataxia v1.169 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Ataxia and cerebellar anomalies - narrow panel v0.49 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Neurodegenerative disorders - adult onset v0.121 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Neurodegenerative disorders - adult onset v0.120 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Ataxia and cerebellar anomalies - narrow panel v0.48 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Hereditary ataxia v1.168 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Hereditary ataxia - adult onset v0.52 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Neurodegenerative disorders - adult onset v0.119 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Ataxia and cerebellar anomalies - narrow panel v0.47 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Hereditary ataxia v1.167 TMEM240 Louise Daugherty Added comment: Comment on phenotypes: corrected MIM
Hereditary ataxia v1.167 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Hereditary ataxia - adult onset v0.51 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Neurodegenerative disorders - adult onset v0.118 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Hereditary ataxia v1.166 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Hereditary ataxia - adult onset v0.50 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Hereditary ataxia v1.165 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Neurodegenerative disorders - adult onset v0.117 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Hereditary ataxia - adult onset v0.49 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Fetal anomalies v0.58 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Hereditary ataxia v1.164 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Hereditary ataxia - adult onset v0.48 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Hereditary ataxia - adult onset v0.47 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Hereditary ataxia v1.163 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Ataxia and cerebellar anomalies - narrow panel v0.46 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Neurodegenerative disorders - adult onset v0.116 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Neurodegenerative disorders - adult onset v0.115 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Ataxia and cerebellar anomalies - narrow panel v0.45 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Hereditary ataxia v1.162 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Hereditary ataxia - adult onset v0.46 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency, 615157 to Mitochondrial complex III deficiency, nuclear type 2, 615157
Hereditary ataxia - adult onset v0.45 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Nuclear type mitochondrial complex III deficiency, 615157
Hereditary ataxia - adult onset v0.44 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Hereditary ataxia v1.161 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Ataxia and cerebellar anomalies - narrow panel v0.44 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Ataxia and cerebellar anomalies - narrow panel v0.43 TUBB4A Louise Daugherty Publications for gene: TUBB4A were set to PMID: 25497598
Hereditary ataxia v1.160 TUBB4A Louise Daugherty Publications for gene: TUBB4A were set to PMID: 25497598
Ataxia and cerebellar anomalies - narrow panel v0.42 TUBB4A Louise Daugherty Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Ataxia and cerebellar anomalies - narrow panel v0.42 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
Hereditary ataxia v1.159 TUBB4A Louise Daugherty Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Hereditary ataxia v1.159 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
Hereditary ataxia - adult onset v0.43 TUBB4A Louise Daugherty Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Hereditary ataxia - adult onset v0.43 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
Ataxia and cerebellar anomalies - narrow panel v0.41 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia v1.158 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Ataxia Neuropathy Spectrum Disorders (Dominant); Spinocerebellar Ataxia, Recessive to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia - adult onset v0.42 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Neurodegenerative disorders - adult onset v0.114 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia - adult onset v0.41 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia - adult onset v0.40 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Neurodegenerative disorders - adult onset v0.113 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Hereditary ataxia v1.157 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Fetal anomalies v0.57 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from COENZYME Q10 DEFICIENCY to Coenzyme Q10 deficiency, primary 4, 612016
Ataxia and cerebellar anomalies - narrow panel v0.40 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Neurodegenerative disorders - adult onset v0.112 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia v1.156 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia - adult onset v0.39 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Neurodegenerative disorders - adult onset v0.111 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Hereditary ataxia v1.155 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Ataxia and cerebellar anomalies - narrow panel v0.39 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Fetal anomalies v0.56 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Galloway-Mowat syndrome 1, 251300
Hereditary ataxia - adult onset v0.38 VRK1 Louise Daugherty Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia 1A (#607596) to Pontocerebellar hypoplasia 1A, 607596
Neurodegenerative disorders - adult onset v0.110 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway Mowat Syndrome to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Hereditary ataxia v1.154 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Intellectual disability v2.591 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Galloway-Mowat syndrome 1, 251300
Ataxia and cerebellar anomalies - narrow panel v0.38 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Adult onset movement disorder v0.5 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
Dystonia - childhood onset v0.28 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
Early onset dystonia v1.77 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
Neurodegenerative disorders - adult onset v0.109 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Hereditary ataxia v1.153 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Hereditary ataxia - adult onset v0.37 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Molecular autopsy v0.20 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1, 222300; Mitochondrial respiratory chain disorders caused by nuclear variants only; Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe)
Cardiomyopathies - including childhood onset v0.31 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1, 222300; Mitochondrial respiratory chain disorders caused by nuclear variants only; Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe)
Inborn errors of metabolism v1.1 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1, 222300; Mitochondrial respiratory chain disorders caused by nuclear variants only; Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe)
Hereditary ataxia v1.152 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Neurodegenerative disorders - adult onset v0.108 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Ataxia and cerebellar anomalies - narrow panel v0.37 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Hereditary ataxia - adult onset v0.36 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Optic neuropathy v1.26 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from Wolfram syndrome; Wolfram syndrome to Wolfram syndrome
Hereditary ataxia - adult onset v0.35 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Ataxia and cerebellar anomalies - narrow panel v0.36 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Neurodegenerative disorders - adult onset v0.107 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Hereditary ataxia v1.151 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Neuromuscular disorders v1.0 Louise Daugherty promoted panel to version 1.0
Neuromuscular disorders v0.78 BICD2 Louise Daugherty Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Neuromuscular disorders v0.77 CACNA1S Louise Daugherty Phenotypes for gene: CACNA1S were changed from congenital myopathy; {Malignant hyperthermia susceptibility 5}, 601887 to Congenital myopathy; Malignant hyperthermia susceptibility 5, 601887
Neuromuscular disorders v0.76 DMD Louise Daugherty Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Duchenne muscular dystrophy 310200; Becker muscular dystrophy; Becker muscular dystrophy, 300376 to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376
Neuromuscular disorders v0.75 DOLK Louise Daugherty Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to Congenital disorder of glycosylation, type Im, 610768
Neuromuscular disorders v0.74 EPG5 Louise Daugherty Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vacuolar myopathy; Vici syndrome, 242840
Neuromuscular disorders v0.73 ETFA Louise Daugherty Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA 231680
Rhabdomyolysis and metabolic muscle disorders v1.25 ETFA Louise Daugherty Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA 231680
Neuromuscular disorders v0.72 FLNC Louise Daugherty Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524; Myopathy, myofibrillar, 5; Distal myopathy 4, 614065; myofibrillar myopathy 5, 609524 to Myopathy, myofibrillar, 5, 609524; Myopathy, myofibrillar, 5; Distal myopathy 4, 614065
Congenital myopathy v1.72 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557
Ehlers Danlos syndromes v1.40 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Neuromuscular disorders v0.71 FKBP14 Louise Daugherty Added comment: Comment on phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Neuromuscular disorders v0.71 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Neuromuscular disorders v0.70 GYG1 Louise Daugherty Phenotypes for gene: GYG1 were changed from ?Glycogen storage disease XV to Glycogen storage disease XV,613507; Polyglucosan body myopathy 2, 616199
Neuromuscular disorders v0.69 GYS1 Louise Daugherty Phenotypes for gene: GYS1 were changed from Glycogen storage disease 0, muscle to Glycogen storage disease 0, muscle, 611556
Neuromuscular disorders v0.68 HADHB Louise Daugherty Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, 609015
Neuromuscular disorders v0.67 LDHA Louise Daugherty Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, 612933
Neuromuscular disorders v0.66 LPIN1 Louise Daugherty Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, 268200
Neuromuscular disorders v0.65 PHKA1 Louise Daugherty Phenotypes for gene: PHKA1 were changed from Muscle glycogenosis to Muscle glycogenosis, 300559
Neuromuscular disorders v0.64 PYGM Louise Daugherty Phenotypes for gene: PYGM were changed from Glycogen storage disease V McArdle disease to Glycogen storage disease V; McArdle disease, 232600
Congenital myopathy v1.71 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to itochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928
Neuromuscular disorders v0.63 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Neuromuscular disorders v0.62 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy v1.70 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy v1.69 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy to mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Neuromuscular disorders v0.61 SLC25A4 Louise Daugherty Publications for gene: SLC25A4 were set to 27693233; PMID:25732997
Neuromuscular disorders v0.60 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300 to Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150
Paediatric motor neuronopathies v1.20 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 to Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150
Neuromuscular disorders v0.59 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 to Spinal muscular atrophy 1, 253300
Neuromuscular disorders v0.58 SPEG Louise Daugherty Publications for gene: SPEG were set to PMID 25087613
Congenital myopathy v1.68 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Arthrogryposis v2.37 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Neuromuscular disorders v0.57 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Neuromuscular disorders v0.56 SUCLA2 Louise Daugherty Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Neuromuscular disorders v0.55 SYNE1 Louise Daugherty Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss muscular dystrophy 4, autosomal dominant to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998; Spinocerebellar ataxia, autosomal recessive 8, 610743
Neuromuscular disorders v0.54 TK2 Louise Daugherty Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Rhabdomyolysis and metabolic muscle disorders v1.24 TK2 Louise Daugherty Added comment: Comment on phenotypes: changed phenotype to Mitochondrial DNA depletion syndrome 2 (myopathic type), as Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 relates to variants of the gene SUCLA2, not TK2
Rhabdomyolysis and metabolic muscle disorders v1.24 TK2 Louise Daugherty Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Neuromuscular disorders v0.53 TMEM5 Louise Daugherty Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 10, 615041
Neuromuscular disorders v0.52 TNNT1 Louise Daugherty Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive; nemaline myopathy to Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive
Neuromuscular disorders v0.51 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from ?Pontocerebellar hypoplasia type 5 to Pontocerebellar hypoplasia type 5, 610204
Neurodegenerative disorders - adult onset v0.106 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753 to Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753
Neurodegenerative disorders - adult onset v0.105 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753
Neurodegenerative disorders - adult onset v0.105 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753
Neuromuscular disorders v0.50 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Congenital Muscular Dystrophy, alpha-dystroglycan related; Walker-Warburg syndrome (WWS)
Neuromuscular disorders v0.49 AR Louise Daugherty Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Androgen insensitivity, 300068; Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633
Neuromuscular disorders v0.48 CRYAB Louise Daugherty Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar 2, 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869; Myopathy, myofibrillar, 2 608810 to Myopathy, myofibrillar 2, 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber awaiting further clinical review. A note of caution: OMIM states that in the article by Novarino et al. (2014), the nomenclature for the mutation in family 1598 was inconsistent, i.e., a 6-bp deletion, c.862_868delACCAGG.
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Amber List (Moderate Evidence).
Neuromuscular disorders v0.47 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820
Neuromuscular disorders v0.46 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Nonaka myopathy, 605820; Nonaka myopathy to Nonaka myopathy 605820
Neuromuscular disorders v0.45 GNE Louise Daugherty Added comment: Comment on mode of inheritance: changed moi to reflect MOI for Nonaka myopathy only, since Sialuria, 269921 (AD) is not relevant to this panel
Neuromuscular disorders v0.45 GNE Louise Daugherty Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v0.103 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546; 11136715; 21832227; 18606970
Hereditary spastic paraplegia v1.179 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 11136715; 21832227; 18606970
Neuromuscular disorders v0.44 HSPB8 Louise Daugherty Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy; Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor type IIA, 158590; Distal myopathy
Neuromuscular disorders v0.43 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440 to Vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440
Neuromuscular disorders v0.42 KLHL41 Louise Daugherty Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 (3) to Nemaline myopathy 9, 615731
Neuromuscular disorders v0.41 ISCU Louise Daugherty Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary; Myopathy with lactic acidosis, hereditary, 255125 to Myopathy with lactic acidosis, hereditary, 255125
Neuromuscular disorders v0.40 LAMP2 Louise Daugherty Phenotypes for gene: LAMP2 were changed from vacuolar myopathy?; Danon disease to Vacuolar myopathy; Danon disease, 300257
Hereditary spastic paraplegia v1.178 SLC2A1 Rebecca Foulger commented on gene: SLC2A1: PMID:21832227 (Weber et al 2011) identified causative variants in SLC2A1 in a German/Dutch family and an Australian monozygotic twin pair with Dystonia. In their cohort of HSP patients, one missense variant (c.138G>C/p.Q46H) was detected in one case of German origin but functional studies indicated the variant was likely benign. The authors conclude that slowly progressive spastic paraparesis complicated by PED can therefore be regarded as a novel phenotype associated with SLC2A1 mutations. However, GLUT1 defects do not seem to play a major role in other forms of autosomal dominant HSP, as suggested by the absence of pathogenic mutations in 139 HSP index patients.
Neuromuscular disorders v0.39 LARGE1 Louise Daugherty Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related
Neuromuscular disorders v0.38 LDB3 Louise Daugherty Phenotypes for gene: LDB3 were changed from Myopathy, myofibrillar, 4, 609452; Myopathy, myofibrillar 4, 609452; Myofibrillar Myopathy, Dominant to Myopathy, myofibrillar 4, 609452; Myofibrillar Myopathy, Dominant
Neuromuscular disorders v0.37 MEGF10 Louise Daugherty Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia
Neuromuscular disorders v0.36 MICU1 Louise Daugherty Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs; Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, 615673
Neuromuscular disorders v0.35 MYH7 Louise Daugherty Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500; Laing Distal Myopathy 160500 to Laing distal myopathy, 160500
Neuromuscular disorders v0.34 MYOT Louise Daugherty Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3 609200; Myopathy, myofibrillar 3, 609200; Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, spheroid body 182920 to Myopathy, myofibrillar, 3 609200; Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, spheroid body 182920
Neuromuscular disorders v0.33 NEB Louise Daugherty Phenotypes for gene: NEB were changed from Nemaline myopathy 2, 256030; Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive; nemaline myopathy to Nemaline myopathy 2, 256030; Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive
Neuromuscular disorders v0.32 PRKAG2 Louise Daugherty Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200
Hereditary spastic paraplegia v1.178 SLC2A1 Rebecca Foulger commented on gene: SLC2A1
Neuromuscular disorders v0.31 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from vacuolar myopathy? to vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440
Neuromuscular disorders v0.30 ANO5 Louise Daugherty Phenotypes for gene: ANO5 were changed from Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 to Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Hereditary spastic paraplegia - childhood onset v0.54 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Hereditary spastic paraplegia - childhood onset v0.54 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.54 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Neurodegenerative disorders - adult onset v0.102 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Neurodegenerative disorders - adult onset v0.102 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.102 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.178 RAB3GAP2 Rebecca Foulger Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to spastic paraplegia; Warburg micro syndrome 2, 614225
Hereditary spastic paraplegia v1.177 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Hereditary spastic paraplegia v1.177 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Red by Chris Buxton (Bristol NHS). Kept rating as Red based on expert review and limited cases, as reviewed by Chris Buxton. OMIM lists progressive spastic diplegia to quadriplegia as a clinical symptom of Warburg micro syndrome 2, 614225.
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.175 RAB3GAP2 Rebecca Foulger Publications for gene: RAB3GAP2 were set to 24482476; 29300443
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger Deleted their comment
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger commented on gene: RAB3GAP2
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger Publications for gene: RAB3GAP2 were set to 24482476
Hereditary spastic paraplegia - childhood onset v0.53 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v0.53 LYST Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.53 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v0.52 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary spastic paraplegia - childhood onset v0.51 LYST Rebecca Foulger Publications for gene: LYST were set to 24521565
Insulin resistance (including lipodystrophy) v1.9 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Insulin resistance (including lipodystrophy) v1.9 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.101 LYST Rebecca Foulger Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679; 24521565
Insulin resistance (including lipodystrophy) v1.8 LIPE Ivone Leong gene: LIPE was added
gene: LIPE was added to Insulin resistance (including lipodystrophy). Sources: Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Review for gene: LIPE was set to GREEN
Added comment: Keven Colclough (Royal Devon & Exeter Hospital) has recommended that this gene be included in this panel. LIPE is a green gene in the Lipodystrophy - childhood onset panel (Version 1.0). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene.
Sources: Expert list
Hereditary spastic paraplegia v1.173 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary spastic paraplegia v1.172 LYST Rebecca Foulger Added comment: Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.
Hereditary spastic paraplegia v1.172 LYST Rebecca Foulger Publications for gene: LYST were set to 24521565
Hereditary spastic paraplegia v1.171 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.171 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Classified gene: LYST as Red List (low evidence)
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating.
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Gene: lyst has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.169 LYST Rebecca Foulger commented on gene: LYST: PMID:6307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.
Hereditary spastic paraplegia v1.169 LYST Rebecca Foulger commented on gene: LYST
Lipodystrophy - childhood onset v1.0 Ellen McDonagh promoted panel to version 1.0
Hereditary spastic paraplegia - childhood onset v0.50 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Hereditary spastic paraplegia - childhood onset v0.50 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.50 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia - childhood onset v0.49 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Neurodegenerative disorders - adult onset v0.100 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Neurodegenerative disorders - adult onset v0.99 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Neurodegenerative disorders - adult onset v0.99 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.99 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red. Gene was added to panel and rated Red by Chris Buxton (Bristol NHS). As the reviewer notes, there is currently 1 family from 1 paper (PMID:26423925).
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.168 KLC4 Rebecca Foulger commented on gene: KLC4
Hereditary spastic paraplegia v1.168 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
White matter disorders and cerebral calcification - narrow panel v1.0 Louise Daugherty promoted panel to version 1.0
Hereditary spastic paraplegia - childhood onset v0.48 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v0.48 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.48 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v0.47 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay
Neurodegenerative disorders - adult onset v0.98 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v0.98 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.98 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders - adult onset v0.97 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
White matter disorders and cerebral calcification - narrow panel v0.18 ARSA Louise Daugherty Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy (Arylsulfatase A Deficiency) to Metachromatic leukodystrophy, 250100; Arylsulfatase A Deficiency
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger commented on gene: KDM5C: Added 'watchlist' tag.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Tag watchlist tag was added to gene: KDM5C.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Hypocalciuric hypercalcaemia v1.0 Ellen McDonagh promoted panel to version 1.0
White matter disorders and cerebral calcification - narrow panel v0.17 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from Calcifications in basal ganglia to Calcifications in basal ganglia; Mental retardation, X-linked syndromic 5, 304340
Insulin resistance (including lipodystrophy) v1.7 ADRA2A Ivone Leong commented on gene: ADRA2A: Familial partial lipodystrophy is not confirmed to be associated with ADRA2A in OMIM or Gene2Phenotype. There is only one variant reported (PMID: 27376152).
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger commented on gene: KDM5C: PMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother
has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence
somatic mutation, c.633delG.
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger commented on gene: KDM5C
Insulin resistance (including lipodystrophy) v1.7 ADRA2A Ivone Leong gene: ADRA2A was added
gene: ADRA2A was added to Insulin resistance (including lipodystrophy). Sources: Expert list
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to No OMIM number; familial partial lipodystrophy
Review for gene: ADRA2A was set to RED
Added comment: Gene added as recommended by Keven Colclough (Royal Devon & Exeter Hospital).
Sources: Expert list
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Hypocalciuric hypercalcaemia v0.10 CASR Ellen McDonagh Publications for gene: CASR were set to 7874174; 7916660; 19423559
White matter disorders and cerebral calcification - narrow panel v0.16 ASPA Louise Daugherty Phenotypes for gene: ASPA were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951 to General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951
Hypocalciuric hypercalcaemia v0.9 CASR Ellen McDonagh Publications for gene: CASR were set to
Hereditary spastic paraplegia - childhood onset v0.46 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v0.46 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.46 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v0.45 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure to psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Neurodegenerative disorders - adult onset v0.96 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v0.96 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.96 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders - adult onset v0.95 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Hereditary spastic paraplegia v1.165 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. Gene added to panel and rated Amber by Chris Buxton (Bristol NHS) based on >3 cases of patients with 'Spastic paraplegia and psychomotor retardation with or without seizures, 616756' from 2 papers (Hollstein et al., 2015/PMID:26424145 and Akawi et al., 2015/PMID:26437029).
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.66 GHR Ivone Leong Marked gene: GHR as ready
Pituitary hormone deficiency v0.66 GHR Ivone Leong Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.66 GHR Ivone Leong Classified gene: GHR as Green List (high evidence)
Pituitary hormone deficiency v0.66 GHR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GHR is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel. There are >3 unrelated cases of patients with Laron syndrome who have variants in the GHR gene listed in OMIM.
Pituitary hormone deficiency v0.66 GHR Ivone Leong Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 BMP4 Ivone Leong Marked gene: BMP4 as ready
Pituitary hormone deficiency v0.65 BMP4 Ivone Leong Gene: bmp4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.65 ARNT2 Ivone Leong Marked gene: ARNT2 as ready
Pituitary hormone deficiency v0.65 ARNT2 Ivone Leong Gene: arnt2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.65 SHH Ivone Leong Tag watchlist tag was added to gene: SHH.
Pituitary hormone deficiency v0.65 CDON Ivone Leong Tag watchlist tag was added to gene: CDON.
Pituitary hormone deficiency v0.65 TCF7L1 Ivone Leong Marked gene: TCF7L1 as ready
Pituitary hormone deficiency v0.65 TCF7L1 Ivone Leong Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 SHH Ivone Leong Marked gene: SHH as ready
Pituitary hormone deficiency v0.65 SHH Ivone Leong Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Marked gene: KCNQ1 as ready
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 CDON Ivone Leong Marked gene: CDON as ready
Pituitary hormone deficiency v0.65 CDON Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 SOX3 Ivone Leong Marked gene: SOX3 as ready
Pituitary hormone deficiency v0.65 SOX3 Ivone Leong Gene: sox3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 SOX2 Ivone Leong Marked gene: SOX2 as ready
Pituitary hormone deficiency v0.65 SOX2 Ivone Leong Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PROKR2 Ivone Leong Marked gene: PROKR2 as ready
Pituitary hormone deficiency v0.65 PROKR2 Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PNPLA6 Ivone Leong Marked gene: PNPLA6 as ready
Pituitary hormone deficiency v0.65 PNPLA6 Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 OTX2 Ivone Leong Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.65 OTX2 Ivone Leong Gene: otx2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - childhood onset v0.44 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Marked gene: IGSF1 as ready
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.94 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Inborn errors of metabolism v1.0 Ellen McDonagh promoted panel to version 1.0
Pituitary hormone deficiency v0.65 GNRHR Ivone Leong Marked gene: GNRHR as ready
Pituitary hormone deficiency v0.65 GNRHR Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GLI3 Ivone Leong Marked gene: GLI3 as ready
Pituitary hormone deficiency v0.65 GLI3 Ivone Leong Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GLI2 Ivone Leong Marked gene: GLI2 as ready
Pituitary hormone deficiency v0.65 GLI2 Ivone Leong Gene: gli2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GHSR Ivone Leong Marked gene: GHSR as ready
Pituitary hormone deficiency v0.65 GHSR Ivone Leong Gene: ghsr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GHRHR Ivone Leong Marked gene: GHRHR as ready
Pituitary hormone deficiency v0.65 GHRHR Ivone Leong Gene: ghrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GH1 Ivone Leong Marked gene: GH1 as ready
Pituitary hormone deficiency v0.65 GH1 Ivone Leong Gene: gh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FOXA2 Ivone Leong Marked gene: FOXA2 as ready
Pituitary hormone deficiency v0.65 FOXA2 Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Marked gene: FGFR1 as ready
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FGF8 Ivone Leong Marked gene: FGF8 as ready
Pituitary hormone deficiency v0.65 FGF8 Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 CHD7 Ivone Leong Marked gene: CHD7 as ready
Pituitary hormone deficiency v0.65 CHD7 Ivone Leong Gene: chd7 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 BTK Ivone Leong Marked gene: BTK as ready
Pituitary hormone deficiency v0.65 BTK Ivone Leong Gene: btk has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PROP1 Ivone Leong Marked gene: PROP1 as ready
Pituitary hormone deficiency v0.65 PROP1 Ivone Leong Gene: prop1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 POU1F1 Ivone Leong Marked gene: POU1F1 as ready
Pituitary hormone deficiency v0.65 POU1F1 Ivone Leong Gene: pou1f1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 LHX4 Ivone Leong Marked gene: LHX4 as ready
Pituitary hormone deficiency v0.65 LHX4 Ivone Leong Gene: lhx4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 LHX3 Ivone Leong Marked gene: LHX3 as ready
Pituitary hormone deficiency v0.65 LHX3 Ivone Leong Gene: lhx3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 HESX1 Ivone Leong Marked gene: HESX1 as ready
Pituitary hormone deficiency v0.65 HESX1 Ivone Leong Gene: hesx1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.163 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on expert review and literature evidence. Gene added to panel and rated green by Alistair Pagnamenta (University of Oxford) based on PMID:24482476 which identified 7 HSP individuals from 3 families with homozygous variants in ERLIN1. Full phenotypes of affected individuals are supplied in the supplementary material.
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.161 ERLIN1 Rebecca Foulger commented on gene: ERLIN1
Hereditary spastic paraplegia - childhood onset v0.43 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v0.43 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.43 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v0.42 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from leg spasticity; Brain stem and spinal cord Hypomyelination to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Neurodegenerative disorders - adult onset v0.93 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Neurodegenerative disorders - adult onset v0.92 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v0.92 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.92 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to match expert review and literature evidence. Added to panel and rated Amber by Chris Buxton (Bristol NHS). 2 patients in PMID:25527264 with onset in late adolescence who presented with subacute spastic paraplegia.
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.160 DARS Rebecca Foulger commented on gene: DARS
Hereditary spastic paraplegia v1.160 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Hereditary spastic paraplegia - childhood onset v0.41 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v0.41 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.41 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v0.40 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Hereditary spastic paraplegia - childhood onset v0.39 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Neurodegenerative disorders - adult onset v0.91 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Marked gene: TBX19 as ready
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Gene: tbx19 has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.90 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Publications for gene: TBX19 were set to
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Classified gene: TBX19 as Green List (high evidence)
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. TBX19 is confirmed to be associated with Adrenocorticotropic hormone deficiency in OMIM but not in Gene2Phenotype. It is also a green gene in the Congenital adrenal hypoplasia (Version 1.7) panel. There are >3 unrelated cases of patients with variants in TBX19 in OMIM.
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Gene: tbx19 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.159 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734; 26874936; 28623566; 27455001; 29321515
Hereditary spastic paraplegia v1.158 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong Marked gene: PITX2 as ready
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong Gene: pitx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong commented on gene: PITX2
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. CYP27A1 was added to panel and rated Amber by Chris Buxton (Bristol NHS). Multiple cases from literature of spastic paresis presenting with Cerebrotendinous xanthomatosis (CTX), which is caused by variants in CYP27A1.
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.156 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:29321515 (Sekijima et al, 2018) conducted a Japanese survey on Cerebrotendinous xanthomatosis (CTX). The most common initial symptom was tendon xanthoma, followed next by spastic paraplegia, cognitive dysfunction, cataract, ataxia, and epilepsy.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:27455001 (Zhang et al 2017) report a 27 year old male with mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. The patient was found to have a compound het variant in CYP27A1. The article is in Chinese, preventing further reading.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:28623566 (Chen et al 2017) investigated clinical symptoms of Chinese CTX patients. Three novel variants of p.Arg513Cys, c.1477-2A>C in family 1 and p.Arg188Stop in family 4 (NM 000784.3) in CYP27A1 were found. The probands in the study manifested cerebellar ataxia, tendon xanthoma and spastic paresis in family 1 and 4.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:26874936 (Rasafio et al 2016) report 2 Italian siblings from a consanguineous family with Cerebrotendinous xanthomatosis and different phenotypes but the same G-to-A transition causing splicing alteration. The 41 year old male presented with mutacism, spastic tetraparesis, bilateral pes cavus, sialorrhea, progressive dysphagia and head dystonia. Genetic testing of other family members revealed the same variant in a sister who had mild spastic paraparesis amongst her symptoms, and a status of asymptomatic carriers of heterozygous mutation in two sisters.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1
Familial hyperparathyroidism v0.11 CDKN2C Ivone Leong Marked gene: CDKN2C as ready
Familial hyperparathyroidism v0.11 CDKN2C Ivone Leong Gene: cdkn2c has been classified as Red List (Low Evidence).
Familial hyperparathyroidism v0.11 CDKN2B Ivone Leong Marked gene: CDKN2B as ready
Familial hyperparathyroidism v0.11 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Red List (Low Evidence).
Familial hyperparathyroidism v0.11 CDKN2B Ivone Leong Marked gene: CDKN2B as ready
Familial hyperparathyroidism v0.11 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Red List (Low Evidence).
Familial hyperparathyroidism v0.11 CDKN1A Ivone Leong Marked gene: CDKN1A as ready
Familial hyperparathyroidism v0.11 CDKN1A Ivone Leong Gene: cdkn1a has been classified as Red List (Low Evidence).
Familial hyperparathyroidism v0.11 RET Ivone Leong Marked gene: RET as ready
Familial hyperparathyroidism v0.11 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Familial hyperparathyroidism v0.11 MEN1 Ivone Leong Marked gene: MEN1 as ready
Familial hyperparathyroidism v0.11 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Familial hyperparathyroidism v0.11 GCM2 Ivone Leong Marked gene: GCM2 as ready
Familial hyperparathyroidism v0.11 GCM2 Ivone Leong Gene: gcm2 has been classified as Green List (High Evidence).
Familial hyperparathyroidism v0.11 CDKN1B Ivone Leong Marked gene: CDKN1B as ready
Familial hyperparathyroidism v0.11 CDKN1B Ivone Leong Gene: cdkn1b has been classified as Green List (High Evidence).
Familial hyperparathyroidism v0.11 CASR Ivone Leong Marked gene: CASR as ready
Familial hyperparathyroidism v0.11 CASR Ivone Leong Gene: casr has been classified as Green List (High Evidence).
Familial hyperparathyroidism v0.11 CDC73 Ivone Leong Marked gene: CDC73 as ready
Familial hyperparathyroidism v0.11 CDC73 Ivone Leong Gene: cdc73 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 CIDEC Ivone Leong Marked gene: CIDEC as ready
Lipodystrophy - childhood onset v0.17 CIDEC Ivone Leong Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 AKT2 Ivone Leong Marked gene: AKT2 as ready
Lipodystrophy - childhood onset v0.17 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 ADRA2A Ivone Leong Marked gene: ADRA2A as ready
Lipodystrophy - childhood onset v0.17 ADRA2A Ivone Leong Gene: adra2a has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Marked gene: LIPE as ready
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong commented on gene: LIPE: Keven Colclough (Royal Devon & Exeter Hospital) has agreed that LIPE should be promoted to green gene status.
Inborn errors of metabolism v0.25 GLUD1 Ellen McDonagh Added comment: Comment on mode of pathogenicity: Mutation consequence summary from G2P = activating. OMIM reports several missense variants.
Inborn errors of metabolism v0.25 GLUD1 Ellen McDonagh Mode of pathogenicity for gene: GLUD1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary spastic paraplegia - childhood onset v0.38 ATP13A2 Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v0.38 ATP13A2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. Note that this gene may not be appropriate for a childhood onset panel.
Hereditary spastic paraplegia - childhood onset v0.38 ATP13A2 Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - childhood onset v0.37 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Hereditary spastic paraplegia - childhood onset v0.36 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Neurodegenerative disorders - adult onset v0.89 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Neurodegenerative disorders - adult onset v0.88 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Inborn errors of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh Marked Region: ISCA-37440-Loss as ready
Inborn errors of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh Added comment: Comment when marking as ready: Coordinates and information checked against the original source panels.
Inborn errors of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh Region: isca-37440-loss has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.155 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Inborn errors of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh commented on Region: ISCA-37440-Loss
Hereditary spastic paraplegia v1.154 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Hereditary spastic paraplegia v1.153 ATP13A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by PMID:28137957 and OMIM.
Hereditary spastic paraplegia v1.153 ATP13A2 Rebecca Foulger Mode of inheritance for gene: ATP13A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence)
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Added comment: Comment on list classification: Updating rating from Red to Green based on literature evidence. ATP13A2 was added to panel and rated Red by Chris Buxton (Bristol NHS) although he provides evidence of 3 unrelated cases in PMID:28137957. PMID:27217339 (Kara et al 2016) provides evidence of an additional case. Therefore sufficient (4) unrelated cases to support diagnostic rating, and ATP13A2 is associated with Spastic paraplegia 78, autosomal recessive, 617225 in OMIM.
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.151 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: In a 46-year-old man (proband 41), born of consanguineous Pakistani parents, with AR spastic paraplegia, Kara et al. (2016, PMID:27217339) identified a homozygous 3-bp deletion (c.3020_3022del, NM_001141974.2), resulting in an in-frame deletion (Phe1007del).
Hereditary spastic paraplegia v1.151 ATP13A2 Rebecca Foulger commented on gene: ATP13A2
Epidermolysis bullosa and congenital skin fragility v0.10 DSG3 Rebecca Foulger gene: DSG3 was added
gene: DSG3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: NHS GMS
Mode of inheritance for gene: DSG3 was set to
Phenotypes for gene: DSG3 were set to mucosal fragility
DDG2P v0.43 H3F3A Rebecca Foulger Classified gene: H3F3A as No list
DDG2P v0.43 H3F3A Rebecca Foulger Added comment: Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders.
DDG2P v0.43 H3F3A Rebecca Foulger Gene: h3f3a has been removed from the panel.
Intestinal failure v0.4 SLC9A3 Ivone Leong Source Expert Review Green was added to SLC9A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 DGAT1 Ivone Leong Source Expert Review Green was added to DGAT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 STXBP2 Ivone Leong Source Expert Review Green was added to STXBP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 SPINT2 Ivone Leong Source Expert Review Green was added to SPINT2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 GUCY2C Ivone Leong Source Expert Review Green was added to GUCY2C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 EPCAM Ivone Leong Source Expert Review Green was added to EPCAM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 SLC26A3 Ivone Leong Source Expert Review Green was added to SLC26A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 SKIV2L Ivone Leong Source Expert Review Green was added to SKIV2L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 TTC37 Ivone Leong Source Expert Review Green was added to TTC37.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 STX3 Ivone Leong Source Expert Review Green was added to STX3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.4 MYO5B Ivone Leong Source Expert Review Green was added to MYO5B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure v0.3 SLC9A3 Ivone Leong reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 DGAT1 Ivone Leong reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 STXBP2 Ivone Leong reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 SPINT2 Ivone Leong reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 GUCY2C Ivone Leong reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 EPCAM Ivone Leong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 SLC26A3 Ivone Leong reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 SKIV2L Ivone Leong reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 TTC37 Ivone Leong reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 STX3 Ivone Leong reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.3 MYO5B Ivone Leong reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure v0.2 SLC9A3 Ivone Leong gene: SLC9A3 was added
gene: SLC9A3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SLC9A3 was set to
Intestinal failure v0.2 DGAT1 Ivone Leong gene: DGAT1 was added
gene: DGAT1 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: DGAT1 was set to
Intestinal failure v0.2 STXBP2 Ivone Leong gene: STXBP2 was added
gene: STXBP2 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: STXBP2 was set to
Intestinal failure v0.2 SPINT2 Ivone Leong gene: SPINT2 was added
gene: SPINT2 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SPINT2 was set to
Intestinal failure v0.2 GUCY2C Ivone Leong gene: GUCY2C was added
gene: GUCY2C was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: GUCY2C was set to
Intestinal failure v0.2 EPCAM Ivone Leong gene: EPCAM was added
gene: EPCAM was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: EPCAM was set to
Intestinal failure v0.2 SLC26A3 Ivone Leong gene: SLC26A3 was added
gene: SLC26A3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SLC26A3 was set to
Intestinal failure v0.2 SKIV2L Ivone Leong gene: SKIV2L was added
gene: SKIV2L was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SKIV2L was set to
Intestinal failure v0.2 TTC37 Ivone Leong gene: TTC37 was added
gene: TTC37 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: TTC37 was set to
Intestinal failure v0.2 STX3 Ivone Leong gene: STX3 was added
gene: STX3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: STX3 was set to
Intestinal failure v0.2 MYO5B Ivone Leong gene: MYO5B was added
gene: MYO5B was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: MYO5B was set to
DDG2P v0.42 NAXD Rebecca Foulger reviewed gene: NAXD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.41 NAXD Rebecca Foulger gene: NAXD was added
gene: NAXD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NAXD was set to
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Neurodegenerative disorder exacerbated by febrile illnesses
Polycystic liver disease v1.3 PKD2 Ivone Leong edited their review of gene: PKD2: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Polycystic liver disease v1.3 PKD1 Ivone Leong commented on gene: PKD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Polycystic liver disease v1.3 DNAJB11 Ivone Leong reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Polycystic liver disease v1.3 SEC61B Ivone Leong edited their review of gene: SEC61B: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC61B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Polycystic liver disease v1.3 ALG8 Ivone Leong commented on gene: ALG8: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALG8; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Polycystic liver disease v1.3 PKHD1 Ivone Leong commented on gene: PKHD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKHD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Polycystic liver disease v1.3 GANAB Ivone Leong commented on gene: GANAB: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: GANAB; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Polycystic liver disease v1.3 LRP5 Ivone Leong commented on gene: LRP5: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: LRP5; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Polycystic liver disease v1.3 SEC63 Ivone Leong edited their review of gene: SEC63: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC63; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Polycystic liver disease v1.3 PRKCSH Ivone Leong edited their review of gene: PRKCSH: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PRKCSH; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Polycystic liver disease v1.2 PKD2 Ivone Leong Source NHS GMS was added to PKD2.
Polycystic liver disease v1.2 PKD1 Ivone Leong Source NHS GMS was added to PKD1.
Polycystic liver disease v1.2 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease. Sources: NHS GMS
Mode of inheritance for gene: DNAJB11 was set to
Polycystic liver disease v1.2 SEC61B Ivone Leong Source NHS GMS was added to SEC61B.
Polycystic liver disease v1.2 ALG8 Ivone Leong Source NHS GMS was added to ALG8.
Polycystic liver disease v1.2 PKHD1 Ivone Leong Source NHS GMS was added to PKHD1.
Polycystic liver disease v1.2 GANAB Ivone Leong Source NHS GMS was added to GANAB.
Polycystic liver disease v1.2 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Polycystic liver disease v1.2 SEC63 Ivone Leong Source NHS GMS was added to SEC63.
Polycystic liver disease v1.2 PRKCSH Ivone Leong Source NHS GMS was added to PRKCSH.
DDG2P v0.40 CHD3 Rebecca Foulger Publications for gene: CHD3 were set to
DDG2P v0.39 CDKN1C Rebecca Foulger Publications for gene: CDKN1C were set to 22634751
DDG2P v0.38 SLC25A4 Rebecca Foulger Publications for gene: SLC25A4 were set to 27693233
DDG2P v0.37 TELO2 Rebecca Foulger Publications for gene: TELO2 were set to 27132593
DDG2P v0.36 RAB18 Rebecca Foulger Publications for gene: RAB18 were set to 21473985
DDG2P v0.35 RAB3GAP1 Rebecca Foulger Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543
DDG2P v0.34 AKT1 Rebecca Foulger Publications for gene: AKT1 were set to
DDG2P v0.33 MECP2 Rebecca Foulger Publications for gene: MECP2 were set to 11402105; 11238684
DDG2P v0.32 DNMT3A Rebecca Foulger Publications for gene: DNMT3A were set to 24614070
DDG2P v0.31 BCAP31 Rebecca Foulger Publications for gene: BCAP31 were set to 24011989
DDG2P v0.30 ARID1B Rebecca Foulger Publications for gene: ARID1B were set to 22426309; 22426308; 22405089
DDG2P v0.29 SMARCB1 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype based on DD-G2P update, from ?COFFIN-SIRIS SYNDROME 135900 to EHMT1-like SYNDROME.
DDG2P v0.29 SMARCB1 Rebecca Foulger Phenotypes for gene: SMARCB1 were changed from ?COFFIN-SIRIS SYNDROME 135900; RHABDOID PREDISPOSITION SYNDROME 1 609322 to EHMT1-like SYNDROME; RHABDOID PREDISPOSITION SYNDROME 1 609322
DDG2P v0.28 SMARCB1 Rebecca Foulger Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299
DDG2P v0.27 TRIO Rebecca Foulger Publications for gene: TRIO were set to 26235986
DDG2P v0.26 TRIO Rebecca Foulger Added comment: Comment on mode of pathogenicity: DD-G2P update, curated Jan 8th 2019: mechanism changed from 'all missense/in frame' to 'uncertain'.
DDG2P v0.26 TRIO Rebecca Foulger Mode of pathogenicity for gene: TRIO was changed from Other - please provide details in the comments to None
DDG2P v0.25 MAF Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to: Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to reflect DD-G2P update.
DDG2P v0.25 MAF Rebecca Foulger Phenotypes for gene: MAF were changed from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202
DDG2P v0.24 FLNA Rebecca Foulger commented on gene: FLNA: DDG2P update, curated January 8th 2019: MOP for RONTOMETAPHYSEAL DYSPLASIA changed from 'uncertain' to 'gain of function'.No MOP change curated in PanelApp, because mechanism is listed as loss of function for some (but not all) DD-G2P disorders.
DDG2P v0.24 NFIA Rebecca Foulger Classified gene: NFIA as Amber List (moderate evidence)
DDG2P v0.24 NFIA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'.
DDG2P v0.24 NFIA Rebecca Foulger Gene: nfia has been classified as Amber List (Moderate Evidence).
DDG2P v0.23 NFIA Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to reflect DD-G2P update. Previous phenotype was CHROMOSOME 1P32-P31 DELETION SYNDROME 613735.
DDG2P v0.23 NFIA Rebecca Foulger Phenotypes for gene: NFIA were changed from CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 to Macrocephaly with intellectual disability
Epidermolysis bullosa and congenital skin fragility v0.9 KRT2 Rebecca Foulger commented on gene: KRT2
Epidermolysis bullosa and congenital skin fragility v0.9 KRT10 Rebecca Foulger commented on gene: KRT10
Epidermolysis bullosa and congenital skin fragility v0.9 KRT1 Rebecca Foulger commented on gene: KRT1
Epidermolysis bullosa and congenital skin fragility v0.9 LAMA3 Rebecca Foulger commented on gene: LAMA3
Cholestasis v0.4 PEX2 Ivone Leong Source Expert Review Amber was added to PEX2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 CC2D2A Ivone Leong Source Expert Review Amber was added to CC2D2A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 CYP7B1 Ivone Leong Source Expert Review Amber was added to CYP7B1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 ALDOB Ivone Leong Source Expert Review Amber was added to ALDOB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 PEX12 Ivone Leong Source Expert Review Green was added to PEX12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX26 Ivone Leong Source Expert Review Green was added to PEX26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX6 Ivone Leong Source Expert Review Green was added to PEX6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 SERPINA1 Ivone Leong Source Expert Review Green was added to SERPINA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX1 Ivone Leong Source Expert Review Green was added to PEX1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 USP53 Ivone Leong Source Expert Review Green was added to USP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 MYO5B Ivone Leong Source Expert Review Green was added to MYO5B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 VPS33B Ivone Leong Source Expert Review Green was added to VPS33B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 VIPAS39 Ivone Leong Source Expert Review Green was added to VIPAS39.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 UGT1A1 Ivone Leong Source Expert Review Green was added to UGT1A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 TJP2 Ivone Leong Source Expert Review Green was added to TJP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 TALDO1 Ivone Leong Source Expert Review Green was added to TALDO1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 SLC25A13 Ivone Leong Source Expert Review Green was added to SLC25A13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NR1H4 Ivone Leong Source Expert Review Green was added to NR1H4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NPC2 Ivone Leong Source Expert Review Green was added to NPC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NPC1 Ivone Leong Source Expert Review Green was added to NPC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NOTCH2 Ivone Leong Source Expert Review Green was added to NOTCH2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 JAG1 Ivone Leong Source Expert Review Green was added to JAG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 HSD3B7 Ivone Leong Source Expert Review Green was added to HSD3B7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 GNAS Ivone Leong Source Expert Review Green was added to GNAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 DCDC2 Ivone Leong Source Expert Review Green was added to DCDC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CYP7A1 Ivone Leong Source Expert Review Green was added to CYP7A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CYP27A1 Ivone Leong Source Expert Review Green was added to CYP27A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CLDN1 Ivone Leong Source Expert Review Green was added to CLDN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 BCS1L Ivone Leong Source Expert Review Green was added to BCS1L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 BAAT Ivone Leong Source Expert Review Green was added to BAAT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ATP8B1 Ivone Leong Source Expert Review Green was added to ATP8B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 AMACR Ivone Leong Source Expert Review Green was added to AMACR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 AKR1D1 Ivone Leong Source Expert Review Green was added to AKR1D1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCC2 Ivone Leong Source Expert Review Green was added to ABCC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCB4 Ivone Leong Source Expert Review Green was added to ABCB4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCB11 Ivone Leong Source Expert Review Green was added to ABCB11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.3 PEX2 Ivone Leong reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CC2D2A Ivone Leong reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP7B1 Ivone Leong reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ALDOB Ivone Leong reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX12 Ivone Leong reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX26 Ivone Leong reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX6 Ivone Leong reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 SERPINA1 Ivone Leong reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX1 Ivone Leong reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 USP53 Ivone Leong reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 MYO5B Ivone Leong reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 VPS33B Ivone Leong reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 VIPAS39 Ivone Leong reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 UGT1A1 Ivone Leong reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 TJP2 Ivone Leong reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 TALDO1 Ivone Leong reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 SLC25A13 Ivone Leong reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NR1H4 Ivone Leong reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NPC2 Ivone Leong reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NPC1 Ivone Leong reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NOTCH2 Ivone Leong reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 JAG1 Ivone Leong reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 HSD3B7 Ivone Leong reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 GNAS Ivone Leong reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 DCDC2 Ivone Leong reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP7A1 Ivone Leong reviewed gene: CYP7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP27A1 Ivone Leong reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CLDN1 Ivone Leong reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 BCS1L Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 BAAT Ivone Leong reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ATP8B1 Ivone Leong reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 AMACR Ivone Leong reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 AKR1D1 Ivone Leong reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCC2 Ivone Leong reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCB4 Ivone Leong reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCB11 Ivone Leong reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 PEX2 Ivone Leong gene: PEX2 was added
gene: PEX2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX2 was set to
Cholestasis v0.2 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CC2D2A was set to
Cholestasis v0.2 CYP7B1 Ivone Leong gene: CYP7B1 was added
gene: CYP7B1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP7B1 was set to
Cholestasis v0.2 ALDOB Ivone Leong gene: ALDOB was added
gene: ALDOB was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ALDOB was set to
Cholestasis v0.2 PEX12 Ivone Leong gene: PEX12 was added
gene: PEX12 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX12 was set to
Cholestasis v0.2 PEX26 Ivone Leong gene: PEX26 was added
gene: PEX26 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX26 was set to
Cholestasis v0.2 PEX6 Ivone Leong gene: PEX6 was added
gene: PEX6 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX6 was set to
Cholestasis v0.2 SERPINA1 Ivone Leong gene: SERPINA1 was added
gene: SERPINA1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: SERPINA1 was set to
Cholestasis v0.2 PEX1 Ivone Leong gene: PEX1 was added
gene: PEX1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX1 was set to
Cholestasis v0.2 USP53 Ivone Leong gene: USP53 was added
gene: USP53 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: USP53 was set to
Cholestasis v0.2 MYO5B Ivone Leong gene: MYO5B was added
gene: MYO5B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: MYO5B was set to
Cholestasis v0.2 VPS33B Ivone Leong gene: VPS33B was added
gene: VPS33B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: VPS33B was set to
Cholestasis v0.2 VIPAS39 Ivone Leong gene: VIPAS39 was added
gene: VIPAS39 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: VIPAS39 was set to
Cholestasis v0.2 UGT1A1 Ivone Leong gene: UGT1A1 was added
gene: UGT1A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: UGT1A1 was set to
Cholestasis v0.2 TJP2 Ivone Leong gene: TJP2 was added
gene: TJP2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TJP2 was set to
Cholestasis v0.2 TALDO1 Ivone Leong gene: TALDO1 was added
gene: TALDO1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TALDO1 was set to
Cholestasis v0.2 SLC25A13 Ivone Leong gene: SLC25A13 was added
gene: SLC25A13 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: SLC25A13 was set to
Cholestasis v0.2 NR1H4 Ivone Leong gene: NR1H4 was added
gene: NR1H4 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NR1H4 was set to
Cholestasis v0.2 NPC2 Ivone Leong gene: NPC2 was added
gene: NPC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NPC2 was set to
Cholestasis v0.2 NPC1 Ivone Leong gene: NPC1 was added
gene: NPC1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NPC1 was set to
Cholestasis v0.2 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NOTCH2 was set to
Cholestasis v0.2 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: JAG1 was set to
Cholestasis v0.2 HSD3B7 Ivone Leong gene: HSD3B7 was added
gene: HSD3B7 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: HSD3B7 was set to
Cholestasis v0.2 GNAS Ivone Leong gene: GNAS was added
gene: GNAS was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: GNAS was set to
Cholestasis v0.2 DCDC2 Ivone Leong gene: DCDC2 was added
gene: DCDC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: DCDC2 was set to
Cholestasis v0.2 CYP7A1 Ivone Leong gene: CYP7A1 was added
gene: CYP7A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP7A1 was set to
Cholestasis v0.2 CYP27A1 Ivone Leong gene: CYP27A1 was added
gene: CYP27A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP27A1 was set to
Cholestasis v0.2 CLDN1 Ivone Leong gene: CLDN1 was added
gene: CLDN1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CLDN1 was set to
Cholestasis v0.2 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: BCS1L was set to
Cholestasis v0.2 BAAT Ivone Leong gene: BAAT was added
gene: BAAT was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: BAAT was set to
Cholestasis v0.2 ATP8B1 Ivone Leong gene: ATP8B1 was added
gene: ATP8B1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ATP8B1 was set to
Cholestasis v0.2 AMACR Ivone Leong gene: AMACR was added
gene: AMACR was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: AMACR was set to
Cholestasis v0.2 AKR1D1 Ivone Leong gene: AKR1D1 was added
gene: AKR1D1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: AKR1D1 was set to
Cholestasis v0.2 ABCC2 Ivone Leong gene: ABCC2 was added
gene: ABCC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCC2 was set to
Cholestasis v0.2 ABCB4 Ivone Leong gene: ABCB4 was added
gene: ABCB4 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCB4 was set to
Cholestasis v0.2 ABCB11 Ivone Leong gene: ABCB11 was added
gene: ABCB11 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCB11 was set to
Epidermolysis bullosa v1.6 CD151 Rebecca Foulger Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620 to Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620; Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa v1.5 CD151 Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v1.4 CD151 Rebecca Foulger Publications for gene: CD151 were set to
Neurodegenerative disorders - adult onset v0.87 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia 207800; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Neurodegenerative disorders - adult onset v0.86 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininaemia 207800; Progressive spastic tetraplegia
Epidermolysis bullosa and congenital skin fragility v0.9 CD151 Rebecca Foulger Added comment: Comment on mode of inheritance: Homozygous CD151 variant reported in patient in PMID:29138120.
Epidermolysis bullosa and congenital skin fragility v0.9 CD151 Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.8 CD151 Rebecca Foulger commented on gene: CD151
Epidermolysis bullosa and congenital skin fragility v0.8 CD151 Rebecca Foulger Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.7 CD151 Rebecca Foulger Publications for gene: CD151 were set to
Pancreatitis v1.4 KRT8 Ivone Leong reviewed gene: KRT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CASR Ivone Leong reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 PRSS2 Ivone Leong reviewed gene: PRSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CTSB Ivone Leong reviewed gene: CTSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CPA1 Ivone Leong reviewed gene: CPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CTRC Ivone Leong reviewed gene: CTRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CFTR Ivone Leong reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 SPINK1 Ivone Leong reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 PRSS1 Ivone Leong reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - childhood onset v0.35 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v0.35 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.35 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - childhood onset v0.34 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 23859858; 26310552
Hereditary spastic paraplegia - childhood onset v0.33 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Hereditary spastic paraplegia v1.151 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Neurodegenerative disorders - adult onset v0.85 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Pancreatitis v1.3 KRT8 Ivone Leong gene: KRT8 was added
gene: KRT8 was added to Pancreatitis. Sources: NHS GMS
Mode of inheritance for gene: KRT8 was set to
Pancreatitis v1.3 CASR Ivone Leong Source NHS GMS was added to CASR.
Pancreatitis v1.3 PRSS2 Ivone Leong Source NHS GMS was added to PRSS2.
Pancreatitis v1.3 CTSB Ivone Leong Source NHS GMS was added to CTSB.
Pancreatitis v1.3 CPA1 Ivone Leong Source NHS GMS was added to CPA1.
Pancreatitis v1.3 CTRC Ivone Leong Source NHS GMS was added to CTRC.
Pancreatitis v1.3 CFTR Ivone Leong Source NHS GMS was added to CFTR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v1.3 SPINK1 Ivone Leong Source NHS GMS was added to SPINK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v1.3 PRSS1 Ivone Leong Source NHS GMS was added to PRSS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neurodegenerative disorders - adult onset v0.84 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858
Neurodegenerative disorders - adult onset v0.83 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Neurodegenerative disorders - adult onset v0.83 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.83 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Non-acute porphyrias v0.4 GATA1 Ivone Leong Source Expert Review Green was added to GATA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 ALAS2 Ivone Leong Source Expert Review Green was added to ALAS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 CPOX Ivone Leong Source Expert Review Green was added to CPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 UROD Ivone Leong Source Expert Review Green was added to UROD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 FECH Ivone Leong Source Expert Review Green was added to FECH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 UROS Ivone Leong Source Expert Review Green was added to UROS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 ALAD Ivone Leong Source Expert Review Green was added to ALAD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 PPOX Ivone Leong Source Expert Review Green was added to PPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 HMBS Ivone Leong Source Expert Review Green was added to HMBS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.3 GATA1 Ivone Leong reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 ALAS2 Ivone Leong reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 CPOX Ivone Leong reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 UROD Ivone Leong reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 FECH Ivone Leong reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 UROS Ivone Leong reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 ALAD Ivone Leong reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 PPOX Ivone Leong reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 HMBS Ivone Leong reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.2 GATA1 Ivone Leong gene: GATA1 was added
gene: GATA1 was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: GATA1 was set to
Non-acute porphyrias v0.2 ALAS2 Ivone Leong gene: ALAS2 was added
gene: ALAS2 was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: ALAS2 was set to
Non-acute porphyrias v0.2 CPOX Ivone Leong gene: CPOX was added
gene: CPOX was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: CPOX was set to
Non-acute porphyrias v0.2 UROD Ivone Leong gene: UROD was added
gene: UROD was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: UROD was set to
Non-acute porphyrias v0.2 FECH Ivone Leong gene: FECH was added
gene: FECH was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: FECH was set to
Non-acute porphyrias v0.2 UROS Ivone Leong gene: UROS was added
gene: UROS was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: UROS was set to
Non-acute porphyrias v0.2 ALAD Ivone Leong gene: ALAD was added
gene: ALAD was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: ALAD was set to
Non-acute porphyrias v0.2 PPOX Ivone Leong gene: PPOX was added
gene: PPOX was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: PPOX was set to
Non-acute porphyrias v0.2 HMBS Ivone Leong gene: HMBS was added
gene: HMBS was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: HMBS was set to
Aniridia v0.15 ISCA-37401-Loss Ivone Leong Marked Region: ISCA-37401-Loss as ready
Aniridia v0.15 ISCA-37401-Loss Ivone Leong Region: isca-37401-loss has been classified as Green List (High Evidence).
Aniridia v0.15 ISCA-37401-Loss Ivone Leong Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Aniridia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Aniridia v0.14 ELP4 Ivone Leong Marked gene: ELP4 as ready
Aniridia v0.14 ELP4 Ivone Leong Gene: elp4 has been classified as Red List (Low Evidence).
Aniridia v0.14 TRIM44 Ivone Leong Marked gene: TRIM44 as ready
Aniridia v0.14 TRIM44 Ivone Leong Gene: trim44 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.150 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: ARG1 was added to the panel by Chris Buxton (Bristol NHS). Sufficient cases from PMID:23859858 (which overlaps with PMID:26310552) to support causation of progressive spastic tetraplegia. Additional cases are reported on OMIM: spastic tetraplegia was seen in a Japanese girl with argininemia and compound het variants in ARG1 (PMID:2365823, Haraguchi et al 1990), and in a Japanese patient identified by Uchino et al, 1992 (PMID:1463019) with compound het variants in ARG1.
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.148 ARG1 Rebecca Foulger commented on gene: ARG1: Wu (2013, 23859858) is very similar to PMID:26310552. They investigated 5 Chinese patients (3 boys, 2 girls) with argininemia in whom it mainly manifested as progressive spastic tetraplegia. Homozygous variants in ARG1 were found in patients 1 and 5, and compound het variants were found in patients 2, 3 and 4. Although not explicitly stated, from the text it sounds like the patients are not related.
Hereditary spastic paraplegia v1.148 ARG1 Rebecca Foulger commented on gene: ARG1
Hereditary spastic paraplegia - childhood onset v0.32 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Neurodegenerative disorders - adult onset v0.82 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to 11810273; 27084228; 11739809; 26049658
Neurodegenerative disorders - adult onset v0.81 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Hereditary spastic paraplegia - childhood onset v0.31 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis
Hereditary spastic paraplegia - childhood onset v0.30 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v0.30 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia - childhood onset v0.30 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.80 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Neurodegenerative disorders - adult onset v0.80 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders - adult onset v0.80 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Aniridia v0.14 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3 to ?Aniridia 3, 617142
Aniridia v0.13 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2 to ?Aniridia 2, 617141
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green. ABCD1 was added to panel and rated Green by Chris Buxton (Bristol NHS). Sufficient unrelated cases (>3) of patients with HSP phenotype and ABCD1 variant to support causation of spastic paraplegia (see comments on individual papers for details).
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.147 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis; Adrenoleukodystrophy, 300100
Hereditary spastic paraplegia v1.146 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Hereditary spastic paraplegia v1.145 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: O'Neill (2001, 11739809) identify a large kindred with AMN phenotype resembling X-linked dominant HSP. All obligate female carriers were clinically affected. A deletion of the ABCD1 gene ATG translation initiaion codon was detected leading to an N-terminally truncated protein.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Koutsis (2015, 26049658) report a Greek family with 5 males and 2 females developing progressive spastic paraplegia. NGS of the proband revealed a novel frameshift mutation in ABCD1 (c.1174_1178del, p.Leu392Serfs*7), which segregated in all family members.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Zhan 2013 (PMID:23664929) investigated a Chinese family with recessive HSP. A missense variant (c.1661G>A, p.R554H) was identified in ABCD1, which co-segregated with the disease.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Balicza (2016, 27084228) carried out genetic testing for 58 probands with clinical features of HSP. Results included one hemizygous variant in ABCD1 (c.1553G>C, p.Arg518Pro) in a male patient with sporadic spastic paraparesis. His disease started at age 28. The authors report that there are other similar cases where ABCD1 variants mimic HSP.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Marked gene: LIPE as ready
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Deleted their comment
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene. Therefore, LIPE has been promoted from red to green status.
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Intellectual disability v2.590 GRIN2D Louise Daugherty Phenotypes for gene: GRIN2D were changed from Epileptic encephalopathy, early infantile, 46 (MIM 617162) to Epileptic encephalopathy, early infantile, 46, 617162; intellectual disability
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene. Therefore, LIPE has been promoted from red to green status.
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Intellectual disability v2.589 GRIN2D Louise Daugherty Classified gene: GRIN2D as Green List (high evidence)
Intellectual disability v2.589 GRIN2D Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.589 GRIN2D Louise Daugherty Gene: grin2d has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.15 LIPE Ivone Leong Publications for gene: LIPE were set to 27862896
Fetal anomalies v0.55 ATAD3A Rebecca Foulger Mode of pathogenicity for gene: ATAD3A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.54 ATAD3A Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to only monoallelic, based on Anna's review: Green rating is appropriate for monoallelic inheritance only as there is currently insufficient evidence for biallelic disorder.
Fetal anomalies v0.54 ATAD3A Rebecca Foulger Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.53 ATAD3A Rebecca Foulger Classified gene: ATAD3A as Green List (high evidence)
Fetal anomalies v0.53 ATAD3A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Green rating is appropriate for monoallelic inheritance only, as stated in Anna's review.
Fetal anomalies v0.53 ATAD3A Rebecca Foulger Gene: atad3a has been classified as Green List (High Evidence).
Fetal anomalies v0.52 ATAD3A Rebecca Foulger Publications for gene: ATAD3A were set to
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Marked gene: ADRA2A as ready
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Added comment: Comment when marking as ready: ARDRA2A was included in this panel as a red gene as suggested by Keven Colclough (Royal Devon & Exeter Hospital). Familial partial lipodystrophy is not confirmed to be associated with ADRA2A in OMIM or Gene2Phenotype. There is only one variant reported (PMID: 27376152).
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Gene: adra2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.51 ATAD3A Rebecca Foulger Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, 617183
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger Tag watchlist was removed from gene: PIEZO1.
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger commented on gene: PIEZO1: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger Added comment: Comment on mode of inheritance: Anna's suggestion of biallelic MOI is based on Lymphatic malformation 6 phenotype (MIM:616843) which has AR inheritance and fetally-relevant phenotype. After further discussion we agreed to include AD inheritance for PIEZO1 based on reviews on the Fetal hydrops panel: in summary, PMID:26333996 (Fotiou et al., 2015) reports that NIHF variably occurs in DHS (with AD inheritance), and a review by Tessa Homfray lists both AD and AR inheritance.
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger Mode of inheritance for gene: PIEZO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Marked gene: AKT2 as ready
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Added comment: Comment when marking as ready: AKT2 was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). AKT2 is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Publications for gene: AKT2 were set to
Fetal anomalies v0.49 BGN Rebecca Foulger commented on gene: BGN: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.49 BGN Rebecca Foulger Tag watchlist was removed from gene: BGN.
Fetal anomalies v0.49 BGN Rebecca Foulger Classified gene: BGN as Amber List (moderate evidence)
Fetal anomalies v0.49 BGN Rebecca Foulger Added comment: Comment on list classification: Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Kept rating as Amber based on Anna's review: sufficient evidence for TAAD causation but phenotype presents later.
Fetal anomalies v0.49 BGN Rebecca Foulger Gene: bgn has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v0.13 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900; Partial lipodystrophy
Fetal anomalies v0.48 BGN Rebecca Foulger Added comment: Comment on mode of inheritance: MOI listed in OMIM as XL for Meester-Loeys syndrome, and XLR for Spondyloepimetaphyseal dysplasia, X-linked.
Fetal anomalies v0.48 BGN Rebecca Foulger Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.47 BGN Rebecca Foulger Phenotypes for gene: BGN were changed from Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia to Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia; Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106
Fetal anomalies v0.46 BGN Rebecca Foulger Publications for gene: BGN were set to
Lipodystrophy - childhood onset v0.12 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Marked gene: CIDEC as ready
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Added comment: Comment when marking as ready: CIDEC was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). CIDEC is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Gene: cidec has been classified as Red List (Low Evidence).
Inherited bleeding disorders v1.148 PTPRJ Louise Daugherty Classified gene: PTPRJ as Amber List (moderate evidence)
Inherited bleeding disorders v1.148 PTPRJ Louise Daugherty Gene: ptprj has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.147 PTPRJ Louise Daugherty gene: PTPRJ was added
gene: PTPRJ was added to Inherited bleeding disorders. Sources: Literature
watchlist tags were added to gene: PTPRJ.
Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRJ were set to 30591527
Phenotypes for gene: PTPRJ were set to Thrombocytopenia; spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Review for gene: PTPRJ was set to AMBER
Added comment: Marconi C et al. Dec 2018 (PMID: 30591527) through exome sequencing of two siblings with autosomal recessive thrombocytopenia, identified two biallelic loss-of-function variants in the gene PTPRJ. They also investigated the pathogenic role of PTPRJ deficiency in hematopoiesis in vivo, carried out using CRISPR/Cas9-mediated ablation of ptprja (the ortholog of human PTPRJ) in zebrafish, which induced a significantly decreased number of CD41+ thrombocytes in vivo. Megakaryocytes of the patients showed impaired maturation and profound defects in SDF1-driven migration and formation of proplatelets in vitro. Silencing of PTPRJ in a human megakaryocytic cell line reproduced the functional defects observed in patients' megakaryocytes. The disorder caused by PTPRJ mutations presented as a non-syndromic thrombocytopenia characterized by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Sources: Literature
Fetal anomalies v0.45 ITPR1 Rebecca Foulger Classified gene: ITPR1 as Amber List (moderate evidence)
Fetal anomalies v0.45 ITPR1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following email correspondance from Anna de Burca who notes that SCA15 is an adult onset condition and that ITPR1 is also associated with Gillespie syndrome which might possibly present prenatally with cerebellar hypoplasia but on balance it would be better to exclude. Therefore although there is sufficient evidence (>3 cases) for association with Gillespie syndrome, the phenotype is not appropriate for this Fetal panel.
Fetal anomalies v0.45 ITPR1 Rebecca Foulger Gene: itpr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.44 ACTB Rebecca Foulger commented on gene: ACTB: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.44 ACTB Rebecca Foulger Tag watchlist was removed from gene: ACTB.
Fetal anomalies v0.44 ACTB Rebecca Foulger Classified gene: ACTB as Green List (high evidence)
Fetal anomalies v0.44 ACTB Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review and email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. As summarised by Anna there is good evidence for GOF variants causing Baraitser-Winter syndrome plus some evidence for LOF variants associated (in some cases) with structural anomalies.
Fetal anomalies v0.44 ACTB Rebecca Foulger Gene: actb has been classified as Green List (High Evidence).
Fetal anomalies v0.43 ACTB Rebecca Foulger Added comment: Comment on mode of pathogenicity: Anna notes that there is good evidence for GOF variants causing Baraitser-Winter syndrome but there is also a paper from DDD (PMID:29220674) reporting LOF variants associated predominantly with developmental delay but in some cases structural anomalies including congenital heart defects and/or CAKUT- this may not be a severe enough prenatal phenotype for inclusion in a fetal panel but overall Anna notes that it is probably reasonable to report any variants in this gene, whether GOF or LOF. Therefore no exception to LOF was added to the MOP section.
Fetal anomalies v0.43 ACTB Rebecca Foulger Mode of pathogenicity for gene: ACTB was changed from to None
Fetal anomalies v0.42 ACTB Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI to 'NOT imprinted' based on Anna's review.
Fetal anomalies v0.42 ACTB Rebecca Foulger Mode of inheritance for gene: ACTB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.41 BGN Anna de Burca reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27236923, 27632686; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.41 PIEZO1 Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996
Fetal anomalies v0.40 ERCC4 Rebecca Foulger commented on gene: ERCC4: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.40 ERCC4 Rebecca Foulger Tag watchlist was removed from gene: ERCC4.
Fetal anomalies v0.40 ERCC4 Rebecca Foulger Phenotypes for gene: ERCC4 were changed from XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F to XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F; Xeroderma pigmentosum, group F, 278760
Fetal anomalies v0.39 ERCC4 Rebecca Foulger Classified gene: ERCC4 as Green List (high evidence)
Fetal anomalies v0.39 ERCC4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that ERCC4 is green on congenital anaemias panel for XP/progeroid syndrome and therefore Green rating is probably appropriate for Fetal anomalies panel also. Confirmed DD-G2P rating for XERODERMA PIGMENTOSUM, GROUP F.
Fetal anomalies v0.39 ERCC4 Rebecca Foulger Gene: ercc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.38 TCTN1 Rebecca Foulger commented on gene: TCTN1: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Tag watchlist was removed from gene: TCTN1.
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Classified gene: TCTN1 as Green List (high evidence)
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that TCTN1 is Green on the 'Rare multisystem ciliopathy disorders' panel with Joubert syndrome phenotype, and therefore Green rating is appropriate for this Fetal anomalies panel. 3 cases from the literature to support Green rating: Two Bangladeshi sisters in PMID:21725307 with homozgyous variant in TCTN1. A compound het variant from PMID:26477546 in a male fetus, and PMID:26489806 report an additional compound het case.
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Gene: tctn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.37 IL11RA Rebecca Foulger commented on gene: IL11RA: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.37 IL11RA Rebecca Foulger Tag watchlist was removed from gene: IL11RA.
Fetal anomalies v0.37 IL11RA Rebecca Foulger Phenotypes for gene: IL11RA were changed from Autosomal Recessive Craniosynostosis; Crouzon-like craniosynostosis to Autosomal Recessive Craniosynostosis; Crouzon-like craniosynostosis; Craniosynostosis and dental anomalies, 614188
Fetal anomalies v0.36 IL11RA Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI listed on OMIM for Craniosynostosis and dental anomalies, 614188.
Fetal anomalies v0.36 IL11RA Rebecca Foulger Mode of inheritance for gene: IL11RA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.35 IL11RA Rebecca Foulger Classified gene: IL11RA as Green List (high evidence)
Fetal anomalies v0.35 IL11RA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Rated as 'Confirmed' for AR Craniosynostosis. As noted by Anna, IL11RA is Green on the Craniosynostosis panel, so Green rating also appropriate for Fetal Anomalies panel.
Fetal anomalies v0.35 IL11RA Rebecca Foulger Gene: il11ra has been classified as Green List (High Evidence).
Fetal anomalies v0.34 ATAD3A Anna de Burca commented on gene: ATAD3A: PMID: 27640307 reports a recurrent de novo variant in ATAD3A in five unrelated individuals with developmental delay and hypotonia. Some individuals had peripheral neuropathy, optic atrophy and hypertrophic cardiomyopathy. A toxic gain of function mechanism was postulated. PMID: 28327206 reports an additional case with the same de novo variant. This individual had delayed motor development and hypotonia. PMID: 27640307 also reports a biallelic missense variant in siblings of distantly related parents with motor and speech delay, hypotonia, cerebellar atrophy, ataxia, seizures, muscle weakness, cataracts and optic nerve hypoplasia. There is insufficient evidence for this association at present. Therefore, this gene should be classified green with regard to monoallelic gain of function only.
Fetal anomalies v0.34 ATAD3A Anna de Burca reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 27640307, 28327206; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.588 LINS1 Konstantinos Varvagiannis reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 23773660, 28181389, 30090841; Phenotypes: Mental retardation, autosomal recessive 27 (MIM 614340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lipodystrophy - childhood onset v0.11 PLIN1 Ivone Leong Marked gene: PLIN1 as ready
Lipodystrophy - childhood onset v0.11 PLIN1 Ivone Leong Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v0.11 ZMPSTE24 Ivone Leong Marked gene: ZMPSTE24 as ready
Lipodystrophy - childhood onset v0.11 ZMPSTE24 Ivone Leong Gene: zmpste24 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 PPARG Ivone Leong Marked gene: PPARG as ready
Lipodystrophy - childhood onset v0.11 PPARG Ivone Leong Gene: pparg has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 POLD1 Ivone Leong Marked gene: POLD1 as ready
Lipodystrophy - childhood onset v0.11 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 LMNA Ivone Leong Marked gene: LMNA as ready
Lipodystrophy - childhood onset v0.11 LMNA Ivone Leong Gene: lmna has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 CAVIN1 Ivone Leong Marked gene: CAVIN1 as ready
Lipodystrophy - childhood onset v0.11 CAVIN1 Ivone Leong Gene: cavin1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 BSCL2 Ivone Leong Marked gene: BSCL2 as ready
Lipodystrophy - childhood onset v0.11 BSCL2 Ivone Leong Gene: bscl2 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 AGPAT2 Ivone Leong Marked gene: AGPAT2 as ready
Lipodystrophy - childhood onset v0.11 AGPAT2 Ivone Leong Gene: agpat2 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 LIPE Ivone Leong gene: LIPE was added
gene: LIPE was added to Lipodystrophy - childhood onset. Sources: Expert list,Expert Review
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy - childhood onset v0.10 ADRA2A Ivone Leong gene: ADRA2A was added
gene: ADRA2A was added to Lipodystrophy - childhood onset. Sources: Expert list,Literature
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to No OMIM number; familial partial lipodystrophy
Lipodystrophy - childhood onset v0.9 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Lipodystrophy - childhood onset. Sources: Expert list
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853
Lipodystrophy - childhood onset v0.8 CIDEC Ivone Leong gene: CIDEC was added
gene: CIDEC was added to Lipodystrophy - childhood onset. Sources: Expert list
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5, 615238
Intellectual disability v2.588 MAPK8IP3 Konstantinos Varvagiannis reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25363768, 28213671, 28135719; Phenotypes: Abnormal muscle tone, Global developmental delay, Intellectual disability, Abnormality of nervous system morphology; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.588 MAPK8IP3 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.588 MAPK8IP3 Konstantinos Varvagiannis gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAPK8IP3 were set to 25363768; 28213671; 28135719
Penetrance for gene: MAPK8IP3 were set to unknown
Review for gene: MAPK8IP3 was set to GREEN
Added comment: Platzer et al. (doi.org/10.1016/j.ajhg.2018.12.008) report on 13 unrelated individuals with de novo pathogenic variants in MAPK8IP3.

The phenotype consisted - among others - of DD with ID (13/13) as well as variable brain anomalies (incl. cerebral or cerebellar atrophy, corpus callosum anomalies, perisylvian polymicrogyria, etc). Microcephaly, seizures, ataxia, ASD were features seen in fewer individuals.

The variants reported included 2 nonsense, 1 frameshift as well as 6 missense mutations (3 missense variants were found - each - in 2 or more individuals).

All three LoF variants were located in the first exon. (mRNA levels were not studied for these variants although NMD is presumed). The brain anomalies were more consistent for missense variants.

MAPK8IP3 appears intolerant to LoF variants (pLI of 1) with constraint also for missense variants (Z-score of 4.06).

In silico structural modeling was possible for 4 missense variants based on available crystal structures and different mechanisms were presumed (disruption of contacts between Leu444 of adjacent subunits, altered interaction between proximal residues at positions 461 and 466, or disruption of protein protein interactions).

The C.elegans MAPK8IP3 ortholog is encoded by the unc-16 gene. Impaired clearance and accumulation of organelles (incl. lysosomes) in axons is observed in unc-16 mutants (recessive phenotype).

For 6 variants, also conserved in C.elegans, mutants were engineered using CRISPR genome editing. The observed mutant phenotypes (increased axonal lysosomal density compared to controls for 2 variants, sluggish locomotion with lower swimming cycle rate for 1 nonsense and 4 missense variants) were rescued upon CRISPR reverse engineering of each mutant allele back to its wild-type sequence.

The authors cite 3 previous studies, in which individuals investigated for neurodevelopmental disorders where found to harbor de novo MAPK8IP3 variants, namely:
- PMID 25363768 (Iossifov et al.) : p.Tyr94Cys [ASD without ID]
- PMID 28213671 (Berger et al.) : p.Glu461Gly [Smith-Magenis-like phenotype)
- PMID 28135719 (DDD study) p.Arg1146Cys [This variant was found in 3 individuals in the study by Platzer et al.]
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A few additional individuals with neurodevelopmental disorders appear in the denovo-db after filtering for coding variants:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=MAPK8IP3
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NM_015133.4:c.111C>G (p.Tyr37Ter) has been submitted in ClinVar by the Undiagnosed Diseases Network (NIH) as likely pathogenic, associated with MAPK8IP3-related disorder (hypotonia, DD, EEG anomalies among the phenotypes). It is not clear whether this subject corresponds to individual #3 reported by the previous study (possibly not the case).
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MAPK8IP3 is not associated with any phenotype in OMIM, nor in G2P.
This gene is not commonly included in gene panels for ID.
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As a result, MAPK8IP3 can be considered for inclusion in this panel as green (rather than amber).
Sources: Literature
Cardiac arrhythmias v0.8 Ellen McDonagh Panel name changed from Cardiac arrythmias to Cardiac arrhythmias
List of related panels changed from to Cardiac arrythmias
Arrhythmogenic cardiomyopathy v1.8 Ellen McDonagh Panel name changed from Arrythmogenic cardiomyopathy to Arrhythmogenic cardiomyopathy
List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy
Hypocalciuric hypercalcaemia v0.8 AP2S1 Ivone Leong Marked gene: AP2S1 as ready
Hypocalciuric hypercalcaemia v0.8 AP2S1 Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence).
Hypocalciuric hypercalcaemia v0.8 CASR Ivone Leong Marked gene: CASR as ready
Hypocalciuric hypercalcaemia v0.8 CASR Ivone Leong Gene: casr has been classified as Green List (High Evidence).
Hypocalciuric hypercalcaemia v0.8 GNA11 Ivone Leong Marked gene: GNA11 as ready
Hypocalciuric hypercalcaemia v0.8 GNA11 Ivone Leong Gene: gna11 has been classified as Green List (High Evidence).
Aniridia v0.12 PAX6 Ellen McDonagh Marked gene: PAX6 as ready
Aniridia v0.12 PAX6 Ellen McDonagh Gene: pax6 has been classified as Green List (High Evidence).
Hypocalciuric hypercalcaemia v0.8 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740) to Hypocalciuric hypercalcemia, type III (600740); FHH
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 PRNP Ellen McDonagh Added phenotypes Cerebral amyloid angiopathy, PRNP-related for gene: PRNP
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 NKX2-1 Ellen McDonagh Added phenotypes Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress for gene: NKX2-1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 HTT Ellen McDonagh Added phenotypes Huntington disease for gene: HTT
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 GLA Ellen McDonagh Added phenotypes Fabry disease, for gene: GLA
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ATP1A2 Ellen McDonagh Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 for gene: ATP1A2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ATN1 Ellen McDonagh Added phenotypes Dentatorubro-pallidoluysian atrophy for gene: ATN1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SLC6A4 Ellen McDonagh Added phenotypes SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} for gene: SLC6A4
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 WNK1 Ellen McDonagh Added phenotypes HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA for gene: WNK1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 TTR Ellen McDonagh Added phenotypes Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy for gene: TTR
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 TRPV4 Ellen McDonagh Added phenotypes sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety for gene: TRPV4
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 TRPA1 Ellen McDonagh Added phenotypes Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I for gene: TRPA1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SPTLC2 Ellen McDonagh Added phenotypes HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SPTLC1 Ellen McDonagh Added phenotypes HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA for gene: SPTLC1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SPR Ellen McDonagh Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 for gene: SPR
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SLC6A5 Ellen McDonagh Added phenotypes 614618 HYPEREKPLEXIA 3 for gene: SLC6A5
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SLC2A1 Ellen McDonagh Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 for gene: SLC2A1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SLC1A3 Ellen McDonagh Added phenotypes Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia for gene: SLC1A3
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SEPT9 Ellen McDonagh Added phenotypes Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy for gene: SEPT9
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SCN9A Ellen McDonagh Added phenotypes Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary for gene: SCN9A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SCN8A Ellen McDonagh Added phenotypes epilepsy; paroxysmal kinesigenic dyskinesias for gene: SCN8A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SCN4A Ellen McDonagh Added phenotypes Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis for gene: SCN4A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SCN1A Ellen McDonagh Added phenotypes Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 for gene: SCN1A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SCN11A Ellen McDonagh Added phenotypes Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII for gene: SCN11A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 SCN10A Ellen McDonagh Added phenotypes Painful small fibre neuropathy; SFN; Small fibre neuropathy; Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551 for gene: SCN10A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 RETREG1 Ellen McDonagh Added phenotypes Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B for gene: RETREG1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 RAB7A Ellen McDonagh Added phenotypes Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B for gene: RAB7A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 PYGM Ellen McDonagh Added phenotypes McArdle disease, 232600 for gene: PYGM
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 PRRT2 Ellen McDonagh Added phenotypes SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS for gene: PRRT2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 PRDM12 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8 for gene: PRDM12
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 PNKD Ellen McDonagh Added phenotypes PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 for gene: PNKD
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 PER2 Ellen McDonagh Added phenotypes Advanced sleep phase syndrome, familial, 1, 604348 for gene: PER2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 NTRK2 Ellen McDonagh Added phenotypes Obesity, hyperphagia, and developmental delay, 613886 for gene: NTRK2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 NTRK1 Ellen McDonagh Added phenotypes HSAN 4; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800 for gene: NTRK1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 NGF Ellen McDonagh Added phenotypes Congenital sensory neuropathy with selective loss of small myelinated fibers; Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary sensory neuropathy type V; HSAN 5 for gene: NGF
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 NAGLU Ellen McDonagh Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD for gene: NAGLU
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 MPV17 Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity for gene: MPV17
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 MOG Ellen McDonagh Added phenotypes Narcolepsy 7, 614250 for gene: MOG
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 KIF1A Ellen McDonagh Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 KCNQ3 Ellen McDonagh Added phenotypes Seizures, benign neonatal, type 2, 121201 for gene: KCNQ3
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 KCNQ2 Ellen McDonagh Added phenotypes Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720 for gene: KCNQ2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 KCNK18 Ellen McDonagh Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 KCNJ2 Ellen McDonagh Added phenotypes ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 for gene: KCNJ2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 KCNJ18 Ellen McDonagh Added phenotypes Hypokalemic Periodic Paralysis, Type 1 for gene: KCNJ18
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 KCNA1 Ellen McDonagh Added phenotypes Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1 for gene: KCNA1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 HSPG2 Ellen McDonagh Added phenotypes Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 HLA-DQB1 Ellen McDonagh Added phenotypes Kleine-Levin hibernation syndrome 148840; narcolepsy for gene: HLA-DQB1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 HCRT Ellen McDonagh Added phenotypes ?Narcolepsy 1, 161400 for gene: HCRT
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 GLRB Ellen McDonagh Added phenotypes 614619 HYPEREKPLEXIA 2 for gene: GLRB
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 GLRA1 Ellen McDonagh Added phenotypes 149400 HYPEREKPLEXIA, HEREDITARY 1 for gene: GLRA1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 EXT1 Ellen McDonagh Added phenotypes Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) for gene: EXT1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ELP1 Ellen McDonagh Added phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 for gene: ELP1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 EIF3G Ellen McDonagh Added phenotypes Narcolepsy for gene: EIF3G
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 DNMT1 Ellen McDonagh Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116; CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN for gene: DNMT1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 DMPK Ellen McDonagh Added phenotypes MYOTONIC DYSTROPHY 1 (DM1); Myotonia for gene: DMPK
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CSNK1D Ellen McDonagh Added phenotypes Advanced sleep-phase syndrome, familial, 2, 615224 for gene: CSNK1D
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CNBP Ellen McDonagh Added phenotypes Myotonia; MYOTONIC DYSTROPHY 2 (DM2) for gene: CNBP
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CLTCL1 Ellen McDonagh Added phenotypes Congenital insensitivity to pain for gene: CLTCL1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CLCN1 Ellen McDonagh Added phenotypes Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800 for gene: CLCN1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CCT5 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia for gene: CCT5
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CACNB4 Ellen McDonagh Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 for gene: CACNB4
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CACNA1S Ellen McDonagh Added phenotypes Hypokalemic periodic paralysis, type 1, 170400 for gene: CACNA1S
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 CACNA1A Ellen McDonagh Added phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 for gene: CACNA1A
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ATP7B Ellen McDonagh Added phenotypes Wilson disease 277900 for gene: ATP7B
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ATP2A1 Ellen McDonagh Added phenotypes Brody myopathy 601003 for gene: ATP2A1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ATP1A3 Ellen McDonagh Added phenotypes DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 for gene: ATP1A3
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ATL3 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory, type IF, 615632; HSN1F for gene: ATL3
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ATL1 Ellen McDonagh Added phenotypes Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 AKR1C2 Ellen McDonagh Added phenotypes Obesity, hyperphagia, and developmental delay for gene: AKR1C2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.3 ADCY5 Ellen McDonagh Added phenotypes Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 25287017; 27716661; 26768678; 24224623
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HTT were set to Huntington disease
Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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,
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SLC6A4 Ellen McDonagh gene: SLC6A4 was added
gene: SLC6A4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC6A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC6A4 were set to 17101915; 16642437; 15642926
Phenotypes for gene: SLC6A4 were set to SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder}
Mode of pathogenicity for gene: SLC6A4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 WNK1 Ellen McDonagh gene: WNK1 was added
gene: WNK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 21625937; 15911806; 18521183; 15455397; 15060842; 16636245; 16946995
Phenotypes for gene: WNK1 were set to HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 TTR Ellen McDonagh gene: TTR was added
gene: TTR was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 12771253; 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.; 25069833; 19365058; 28678039; 26800456; 8309582; 14640030; 16433699; 3011930
Phenotypes for gene: TTR were set to Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 TRPV4 Ellen McDonagh gene: TRPV4 was added
gene: TRPV4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV4 were set to 22547884
Phenotypes for gene: TRPV4 were set to sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 TRPA1 Ellen McDonagh gene: TRPA1 was added
gene: TRPA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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; 20718100; 28436534; 24778270; 16564016; 20547126; 24564660; 21468319
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 27025386; 26681808; 20920666; 12207934; 23658386
Phenotypes for gene: SPTLC2 were set to HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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; 15037712; 11242106
Phenotypes for gene: SPTLC1 were set to HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SEPT9 Ellen McDonagh gene: SEPT9 was added
gene: SEPT9 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 19451530; 21556032; 16186812
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 17145499; 16392115; 17679678; 17470132; 24813307; 28665811; 25316021; 16216943; 1536168; 24817410; 15958509; 28235406; 23596073; 17167479; 14985375
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SCN4A Ellen McDonagh gene: SCN4A was added
gene: SCN4A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN4A were set to 17395131; 15534250
Phenotypes for gene: SCN4A were set to Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SCN11A Ellen McDonagh gene: SCN11A was added
gene: SCN11A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 24776970; 24207120; 27503742; 28665811; 24813307; 24036948; 25316021; 26645915; 28298626
Phenotypes for gene: SCN11A were set to Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 SCN10A Ellen McDonagh gene: SCN10A was added
gene: SCN10A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 24776970; 27598514; 24813307; 28665811; 23115331; 26711856; 25316021; 24006052; 25250524
Phenotypes for gene: SCN10A were set to Painful small fibre neuropathy; SFN; Small fibre neuropathy; Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 RETREG1 Ellen McDonagh gene: RETREG1 was added
gene: RETREG1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 24327336; 21115472; 19838196
Phenotypes for gene: RETREG1 were set to Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 RAB7A Ellen McDonagh gene: RAB7A was added
gene: RAB7A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 15455439; 12545426; 17060578
Phenotypes for gene: RAB7A were set to Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease, 232600
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 PRDM12 Ellen McDonagh gene: PRDM12 was added
gene: PRDM12 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26975306; 26005867
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 PER2 Ellen McDonagh gene: PER2 was added
gene: PER2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: PER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PER2 were set to 11232563
Phenotypes for gene: PER2 were set to Advanced sleep phase syndrome, familial, 1, 604348
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 NTRK2 Ellen McDonagh gene: NTRK2 was added
gene: NTRK2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: NTRK2 was set to Unknown
Publications for gene: NTRK2 were set to 16702999; 15494731
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, 613886
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 NTRK1 Ellen McDonagh gene: NTRK1 was added
gene: NTRK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 NGF Ellen McDonagh gene: NGF was added
gene: NGF was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 20978020; 15131306; 26562335; 14976160
Phenotypes for gene: NGF were set to Congenital sensory neuropathy with selective loss of small myelinated fibers; Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary sensory neuropathy type V; HSAN 5
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 12202988; 25818867
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 MT-ATP8 Ellen McDonagh gene: MT-ATP8 was added
gene: MT-ATP8 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 16582910; 23714749; 185990; 11431741; 16909392; 22508010
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 MOG Ellen McDonagh gene: MOG was added
gene: MOG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MOG were set to 21907016
Phenotypes for gene: MOG were set to Narcolepsy 7, 614250
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KIF1A Ellen McDonagh gene: KIF1A was added
gene: KIF1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KCNJ5 Ellen McDonagh gene: KCNJ5 was added
gene: KCNJ5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KCNJ2 Ellen McDonagh gene: KCNJ2 was added
gene: KCNJ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to 16217063
Phenotypes for gene: KCNJ2 were set to ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KCNJ18 Ellen McDonagh gene: KCNJ18 was added
gene: KCNJ18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: KCNJ18 was set to
Publications for gene: KCNJ18 were set to 20074522
Phenotypes for gene: KCNJ18 were set to Hypokalemic Periodic Paralysis, Type 1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ISCA-37468-Loss Ellen McDonagh Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 HSPG2 Ellen McDonagh gene: HSPG2 was added
gene: HSPG2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 HLA-DQB1 Ellen McDonagh gene: HLA-DQB1 was added
gene: HLA-DQB1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HLA-DQB1 was set to Unknown
Publications for gene: HLA-DQB1 were set to 12473762; 27305985; 27081540; 26283305; 26126836; 27253765
Phenotypes for gene: HLA-DQB1 were set to Kleine-Levin hibernation syndrome 148840; narcolepsy
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 HCRT Ellen McDonagh gene: HCRT was added
gene: HCRT was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HCRT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCRT were set to 10973318
Phenotypes for gene: HCRT were set to ?Narcolepsy 1, 161400
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXT1 were set to 2788404; Journal Sleep Research (2012), 21(Suppl 1), P891
Phenotypes for gene: EXT1 were set to Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)
Mode of pathogenicity for gene: EXT1 was set to Other - please provide details in the comments
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ELP1 Ellen McDonagh gene: ELP1 was added
gene: ELP1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 11179021; 11179008; 17985250; 8102296
Phenotypes for gene: ELP1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 EIF3G Ellen McDonagh gene: EIF3G was added
gene: EIF3G was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: EIF3G was set to Unknown
Publications for gene: EIF3G were set to 25669430
Phenotypes for gene: EIF3G were set to Narcolepsy
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 23904686; 22328086; 24709307
Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116; CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 DMPK Ellen McDonagh gene: DMPK was added
gene: DMPK was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to MYOTONIC DYSTROPHY 1 (DM1); Myotonia
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CSNK1D Ellen McDonagh gene: CSNK1D was added
gene: CSNK1D was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CSNK1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1D were set to 25660813; 23636092
Phenotypes for gene: CSNK1D were set to Advanced sleep-phase syndrome, familial, 2, 615224
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CNBP Ellen McDonagh gene: CNBP was added
gene: CNBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CNBP was set to Other - please specifiy in evaluation comments
Phenotypes for gene: CNBP were set to Myotonia; MYOTONIC DYSTROPHY 2 (DM2)
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CLTCL1 Ellen McDonagh gene: CLTCL1 was added
gene: CLTCL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
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
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CLCN1 Ellen McDonagh gene: CLCN1 was added
gene: CLCN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN1 were set to 11840191; 18337100; 22649220
Phenotypes for gene: CLCN1 were set to Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CCT5 Ellen McDonagh gene: CCT5 was added
gene: CCT5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 28623285; 12874111; 16399879; 25124038
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541
Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CACNA1S Ellen McDonagh gene: CACNA1S was added
gene: CACNA1S was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1S were set to 15534250; 18835861
Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, 170400
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ATP2A1 Ellen McDonagh gene: ATP2A1 was added
gene: ATP2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP2A1 were set to 9367679; 884119; 8841193
Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; 22850527
Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ATL3 Ellen McDonagh gene: ATL3 was added
gene: ATL3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 24736309; 24459106
Phenotypes for gene: ATL3 were set to Neuropathy, hereditary sensory, type IF, 615632; HSN1F
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ATL1 Ellen McDonagh gene: ATL1 was added
gene: ATL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 AKR1C2 Ellen McDonagh gene: AKR1C2 was added
gene: AKR1C2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: AKR1C2 was set to Unknown
Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay
Paroxysmal neurological disorders, pain disorders and sleep disorders v0.2 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703
Adult onset movement disorder v0.4 AP1S2 Ellen McDonagh Classified gene: AP1S2 as Green List (high evidence)
Adult onset movement disorder v0.4 AP1S2 Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Structural basal ganglia disorders v1.10 panel.
Adult onset movement disorder v0.4 AP1S2 Ellen McDonagh Gene: ap1s2 has been classified as Green List (High Evidence).
Adult onset movement disorder v0.2 YY1 Ellen McDonagh gene: YY1 was added
gene: YY1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome
Adult onset movement disorder v0.2 VAC14 Ellen McDonagh gene: VAC14 was added
gene: VAC14 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 19037259; 17956977; 27292112
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset
Adult onset movement disorder v0.2 SLC39A14 Ellen McDonagh gene: SLC39A14 was added
gene: SLC39A14 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2
Adult onset movement disorder v0.2 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 18799783; 18570303; 16783378
Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration; Parkinson disease 14, autosomal recessive 612953; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600
Adult onset movement disorder v0.2 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1; MODY, type IV 606392
Adult onset movement disorder v0.2 PCCB Ellen McDonagh gene: PCCB was added
gene: PCCB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia
Adult onset movement disorder v0.2 PCCA Ellen McDonagh gene: PCCA was added
gene: PCCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 6790853; 15235904
Phenotypes for gene: PCCA were set to Propionicacidemia
Adult onset movement disorder v0.2 NUP62 Ellen McDonagh gene: NUP62 was added
gene: NUP62 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 16786527; 14718703; 12374138
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
Adult onset movement disorder v0.2 NKX6-2 Ellen McDonagh gene: NKX6-2 was added
gene: NKX6-2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Adult onset movement disorder v0.2 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Adult onset movement disorder v0.2 NDUFS3 Ellen McDonagh gene: NDUFS3 was added
gene: NDUFS3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency 256000
Adult onset movement disorder v0.2 NDUFAF6 Ellen McDonagh gene: NDUFAF6 was added
gene: NDUFAF6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 18614015; 27623250; 26741492
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency
Adult onset movement disorder v0.2 NDUFA9 Ellen McDonagh gene: NDUFA9 was added
gene: NDUFA9 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 22114105
Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency
Adult onset movement disorder v0.2 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 21617257
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency
Adult onset movement disorder v0.2 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 21150889; 28247337; 26741492
Phenotypes for gene: NDUFA10 were set to Leigh syndrome
Adult onset movement disorder v0.2 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NDUFA1 were set to 28247337; 17262856
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency
Adult onset movement disorder v0.2 MUT Ellen McDonagh gene: MUT was added
gene: MUT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type
Adult onset movement disorder v0.2 MECR Ellen McDonagh gene: MECR was added
gene: MECR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MECR were set to 27817865
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Adult onset movement disorder v0.2 KMT2B Ellen McDonagh gene: KMT2B was added
gene: KMT2B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417
Phenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset 617284; early-onset dystonia
Adult onset movement disorder v0.2 JPH3 Ellen McDonagh gene: JPH3 was added
gene: JPH3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH3 were set to Huntington disease-like 2
Mode of pathogenicity for gene: JPH3 was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia
Adult onset movement disorder v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease
Adult onset movement disorder v0.2 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 18364387; 27208207; 18401856; 27696117; 23462481; 15961413
Phenotypes for gene: HTRA2 were set to Parkinson Disease, Dominant; Parkinson disease 13, 610297; 3-methylglutaconic aciduria, type VIII 617248
Adult onset movement disorder v0.2 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; Hex A pseudodeficiency 272800
Adult onset movement disorder v0.2 GFAP Ellen McDonagh gene: GFAP was added
gene: GFAP was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GFAP were set to 15732098; 14557587
Phenotypes for gene: GFAP were set to Alexander disease 203450
Adult onset movement disorder v0.2 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 19068277
Phenotypes for gene: FA2H were set to fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 35, autosomal recessive 612319; Dystonia
Adult onset movement disorder v0.2 ETHE1 Ellen McDonagh gene: ETHE1 was added
gene: ETHE1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy 602473
Adult onset movement disorder v0.2 DLAT Ellen McDonagh gene: DLAT was added
gene: DLAT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 16049940; 19891062; 20022530
Phenotypes for gene: DLAT were set to episodic dystonia; pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase E2 deficiency 245348
Adult onset movement disorder v0.2 COASY Ellen McDonagh Added phenotypes Neurodegeneration with brain iron accumulation 6 615643 for gene: COASY
Publications for gene COASY were changed from 27021474 to 24360804; 27021474
Adult onset movement disorder v0.2 ATP6AP2 Ellen McDonagh gene: ATP6AP2 was added
gene: ATP6AP2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to 23595882
Phenotypes for gene: ATP6AP2 were set to Mental retardation, X-linked, syndromic, Hedera type 300423; ?Parkinsonism with spasticity, X-linked 300911
Adult onset movement disorder v0.2 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290
Adult onset movement disorder v0.2 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 NDUFS4 Ellen McDonagh gene: NDUFS4 was added
gene: NDUFS4 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS4 were set to 24020637
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency 252010; Leigh syndrome 256000
Adult onset movement disorder v0.2 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 12185364; 17035501; 19798730
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710; Microcephaly, Amish type 607196
Adult onset movement disorder v0.2 XPR1 Ellen McDonagh gene: XPR1 was added
gene: XPR1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: XPR1 were set to 25938945
Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6 616413
Adult onset movement disorder v0.2 WDR73 Ellen McDonagh gene: WDR73 was added
gene: WDR73 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome
Adult onset movement disorder v0.2 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 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: WDR45 were set to 23435086; 22892189; 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration
Adult onset movement disorder v0.2 VPS37A Ellen McDonagh gene: VPS37A was added
gene: VPS37A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: VPS37A was set to
Phenotypes for gene: VPS37A were set to Dystonia
Adult onset movement disorder v0.2 VPS35 Ellen McDonagh gene: VPS35 was added
gene: VPS35 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VPS35 were set to 23408866; 21763483; 21763482; 26547032; 22991136; 27777137; 22517097; 24854799
Phenotypes for gene: VPS35 were set to PARK17; PARKINSON DISEASE 17; Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease
Adult onset movement disorder v0.2 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 11381253; 11381254; 14663054
Phenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150
Adult onset movement disorder v0.2 UCHL1 Ellen McDonagh gene: UCHL1 was added
gene: UCHL1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}
Adult onset movement disorder v0.2 TUBB4A Ellen McDonagh gene: TUBB4A was added
gene: TUBB4A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to 27809427; 24526230; 24850488; 23582646
Phenotypes for gene: TUBB4A were set to Complex parkinsonism; hypomyelinating leukodystrophy 6; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia
Adult onset movement disorder v0.2 TUBA1A Ellen McDonagh gene: TUBA1A was added
gene: TUBA1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBA1A were set to Lissencephaly 3 611603
Adult onset movement disorder v0.2 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TREX1 was set to
Phenotypes for gene: TREX1 were set to Dystonia
Adult onset movement disorder v0.2 TREM2 Ellen McDonagh gene: TREM2 was added
gene: TREM2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TREM2 was set to
Phenotypes for gene: TREM2 were set to Dystonia
Adult onset movement disorder v0.2 TPK1 Ellen McDonagh gene: TPK1 was added
gene: TPK1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TPK1 was set to
Phenotypes for gene: TPK1 were set to Dystonia
Adult onset movement disorder v0.2 TOR1A Ellen McDonagh gene: TOR1A was added
gene: TOR1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOR1A were set to 16537570; 9288096; 20301665; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17503336; 11523564
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1)
Adult onset movement disorder v0.2 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Adult onset movement disorder v0.2 THAP1 Ellen McDonagh gene: THAP1 was added
gene: THAP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 21793105
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia
Adult onset movement disorder v0.2 TH Ellen McDonagh gene: TH was added
gene: TH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: TH were set to Segawa syndrome; paediatric form of dopa responsive dystonia; infantile parkinsonism; DOPA-responsive dystonia; Segawa syndrome, recessive, 605407
Adult onset movement disorder v0.2 TBP Ellen McDonagh gene: TBP was added
gene: TBP was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBP were set to {Parkinson disease, susceptibility to}, 168600; Spinocerebellar ataxia 17, 607136
Mode of pathogenicity for gene: TBP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 TAF1 Ellen McDonagh gene: TAF1 was added
gene: TAF1 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: TAF1 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: TAF1 were set to 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797
Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)
Mode of pathogenicity for gene: TAF1 was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 SYNJ1 Ellen McDonagh gene: SYNJ1 was added
gene: SYNJ1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNJ1 were set to 27435091; 27496670; 26149920; 23804563; 23804577
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Early Onset Complex Disease; Parkinson disease 20, early-onset, 615530; Parkinson disease 20, early-onset
Adult onset movement disorder v0.2 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SUOX Ellen McDonagh gene: SUOX was added
gene: SUOX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Dystonia
Adult onset movement disorder v0.2 SUCLG1 Ellen McDonagh gene: SUCLG1 was added
gene: SUCLG1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Adult onset movement disorder v0.2 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 27820618; 19224311; 21381113
Phenotypes for gene: SPG11 were set to Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve
Adult onset movement disorder v0.2 SNCAIP Ellen McDonagh gene: SNCAIP was added
gene: SNCAIP was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive
Adult onset movement disorder v0.2 SNCA Ellen McDonagh gene: SNCA was added
gene: SNCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601
Mode of pathogenicity for gene: SNCA was set to Other - please provide details in the comments
Adult onset movement disorder v0.2 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Adult onset movement disorder v0.2 SLC6A3 Ellen McDonagh gene: SLC6A3 was added
gene: SLC6A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to PMID: 24613933
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135
Adult onset movement disorder v0.2 SLC46A1 Ellen McDonagh gene: SLC46A1 was added
gene: SLC46A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to
Phenotypes for gene: SLC46A1 were set to Dystonia
Adult onset movement disorder v0.2 SLC41A1 Ellen McDonagh gene: SLC41A1 was added
gene: SLC41A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SLC41A1 was set to
Publications for gene: SLC41A1 were set to 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients
Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Adult onset movement disorder v0.2 SLC30A10 Ellen McDonagh gene: SLC30A10 was added
gene: SLC30A10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341971; 22341972; 22926781; 22934317; 25778823
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
Adult onset movement disorder v0.2 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME 1; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Adult onset movement disorder v0.2 SLC20A2 Ellen McDonagh gene: SLC20A2 was added
gene: SLC20A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600
Adult onset movement disorder v0.2 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to EPISODIC ATAXIA, TYPE 6
Adult onset movement disorder v0.2 SLC19A3 Ellen McDonagh gene: SLC19A3 was added
gene: SLC19A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483
Adult onset movement disorder v0.2 SGCE Ellen McDonagh gene: SGCE was added
gene: SGCE was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078; 11528394
Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900
Adult onset movement disorder v0.2 SERAC1 Ellen McDonagh gene: SERAC1 was added
gene: SERAC1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; Dystonia; MEGDHEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Lesions in the basal ganglia
Adult onset movement disorder v0.2 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to
Phenotypes for gene: SDHAF1 were set to Dystonia
Adult onset movement disorder v0.2 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SCP2 was set to
Publications for gene: SCP2 were set to PMID: 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724
Adult onset movement disorder v0.2 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary
Adult onset movement disorder v0.2 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Adult onset movement disorder v0.2 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Adult onset movement disorder v0.2 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SAMHD1 was set to
Phenotypes for gene: SAMHD1 were set to Dystonia
Adult onset movement disorder v0.2 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2C was set to
Phenotypes for gene: RNASEH2C were set to Dystonia
Adult onset movement disorder v0.2 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2B was set to
Phenotypes for gene: RNASEH2B were set to Dystonia
Adult onset movement disorder v0.2 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to
Phenotypes for gene: RNASEH2A were set to Dystonia
Adult onset movement disorder v0.2 RAB39B Ellen McDonagh gene: RAB39B was added
gene: RAB39B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: RAB39B 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: RAB39B were set to 27838047; 27459931; 27066548; 26399558; 2639955; 27448726; 27943471; 25434005; 27694831
Phenotypes for gene: RAB39B were set to Waisman syndrome 311510; early-onset parkinsonism and intellectual disability
Adult onset movement disorder v0.2 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: QDPR was set to
Phenotypes for gene: QDPR were set to Dystonia
Adult onset movement disorder v0.2 PTS Ellen McDonagh gene: PTS was added
gene: PTS was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PTS was set to
Phenotypes for gene: PTS were set to Dystonia
Adult onset movement disorder v0.2 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PTEN was set to
Phenotypes for gene: PTEN were set to Dystonia
Adult onset movement disorder v0.2 PSEN1 Ellen McDonagh gene: PSEN1 was added
gene: PSEN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PSEN1 was set to
Phenotypes for gene: PSEN1 were set to Dystonia
Adult onset movement disorder v0.2 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22744660; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Adult onset movement disorder v0.2 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related 137440; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Creutzfeldt-Jakob disease 123400
Adult onset movement disorder v0.2 PRKRA Ellen McDonagh gene: PRKRA was added
gene: PRKRA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261
Phenotypes for gene: PRKRA were set to Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease; Dystonia 16; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia; Dystonia 16, 612067
Adult onset movement disorder v0.2 PRKN Ellen McDonagh gene: PRKN was added
gene: PRKN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to PMID: 22956510
Phenotypes for gene: PRKN were set to Parkinson Disease, Juvenile; juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2; Parkinson Disease 2, Autosomal Recessive Juvenile
Adult onset movement disorder v0.2 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PNPT1 was set to
Phenotypes for gene: PNPT1 were set to Dystonia
Adult onset movement disorder v0.2 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800
Adult onset movement disorder v0.2 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PLP1 was set to
Phenotypes for gene: PLP1 were set to Dystonia
Adult onset movement disorder v0.2 PINK1 Ellen McDonagh gene: PINK1 was added
gene: PINK1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson Disease 6, Autosomal Recessive Early-Onset; Parkinson disease 6, early onset, 605909; Dystonia
Adult onset movement disorder v0.2 PDP1 Ellen McDonagh gene: PDP1 was added
gene: PDP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDP1 were set to 19184109; 15855260
Adult onset movement disorder v0.2 PDHX Ellen McDonagh gene: PDHX was added
gene: PDHX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PDHX was set to
Phenotypes for gene: PDHX were set to Dystonia
Adult onset movement disorder v0.2 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDHA1 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: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency 312170
Adult onset movement disorder v0.2 PDGFRB Ellen McDonagh gene: PDGFRB was added
gene: PDGFRB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to 27984190; 23255827; 26129893; 25292412
Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4 615007
Adult onset movement disorder v0.2 PDGFB Ellen McDonagh gene: PDGFB was added
gene: PDGFB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFB were set to 26129893
Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483
Adult onset movement disorder v0.2 PDE10A Ellen McDonagh gene: PDE10A was added
gene: PDE10A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to 27058447; 27058446
Phenotypes for gene: PDE10A were set to Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921
Adult onset movement disorder v0.2 PCDH12 Ellen McDonagh gene: PCDH12 was added
gene: PCDH12 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity
Adult onset movement disorder v0.2 PARK7 Ellen McDonagh gene: PARK7 was added
gene: PARK7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to 606324; Parkinson disease 7 autosomal recessive early-onset
Adult onset movement disorder v0.2 PANK2 Ellen McDonagh gene: PANK2 was added
gene: PANK2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Neurodegeneration with brain iron accumulation 1; Early Onset Complex Disease; Dystonia; 234200
Adult onset movement disorder v0.2 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome
Adult onset movement disorder v0.2 OCLN Ellen McDonagh gene: OCLN was added
gene: OCLN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OCLN were set to 20727516
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290
Adult onset movement disorder v0.2 NR4A2 Ellen McDonagh gene: NR4A2 was added
gene: NR4A2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR4A2 were set to 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265
Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)
Adult onset movement disorder v0.2 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NPC2 was set to
Phenotypes for gene: NPC2 were set to Dystonia
Adult onset movement disorder v0.2 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to 10080174; 26345448
Adult onset movement disorder v0.2 NDUFS8 Ellen McDonagh gene: NDUFS8 was added
gene: NDUFS8 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 NDUFAF2 Ellen McDonagh gene: NDUFAF2 was added
gene: NDUFAF2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF2 were set to 16200211; 20571988; 20818383
Adult onset movement disorder v0.2 NDUFA2 Ellen McDonagh gene: NDUFA2 was added
gene: NDUFA2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA2 were set to 18513682
Adult onset movement disorder v0.2 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia
Adult onset movement disorder v0.2 MT-ND1 Ellen McDonagh gene: MT-ND1 was added
gene: MT-ND1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Adult onset movement disorder v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 1550128; 11916326
Adult onset movement disorder v0.2 MR1 Ellen McDonagh gene: MR1 was added
gene: MR1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MR1 were set to Paroxysmal/Episodic dystonia; Dystonia
Adult onset movement disorder v0.2 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MPV17 was set to
Phenotypes for gene: MPV17 were set to Dystonia
Adult onset movement disorder v0.2 MMADHC Ellen McDonagh gene: MMADHC was added
gene: MMADHC was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MMADHC was set to
Phenotypes for gene: MMADHC were set to Dystonia
Adult onset movement disorder v0.2 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to
Phenotypes for gene: MCOLN1 were set to Dystonia
Adult onset movement disorder v0.2 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to
Phenotypes for gene: MAT1A were set to Dystonia
Adult onset movement disorder v0.2 MAPT Ellen McDonagh gene: MAPT was added
gene: MAPT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPT were set to 28334843; 20301678
Phenotypes for gene: MAPT were set to Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Tauopathy and r; Dementia, frontotemporal, with or without parkinsonism, 600274; PARKINSON-DEMENTIA SYNDROME
Adult onset movement disorder v0.2 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 11857544; 9215680; 8896560; 9215679; 23436631
Phenotypes for gene: LYST were set to albinism; peripheral neuropathy; Chediak-Higashi syndrome 214500; Parkinsonism
Adult onset movement disorder v0.2 LRRK2 Ellen McDonagh gene: LRRK2 was added
gene: LRRK2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRK2 were set to 28395803; 28395805; 27090875; 25391693; 28395802; 28395804
Phenotypes for gene: LRRK2 were set to LRRK2 G2019S mutation; Parkinson Disease, Dominant; Parkinson disease 8, 607060; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; Autosomal dominant Parkinson's disease; Parkinson Disease 8, Autosomal Dominant
Mode of pathogenicity for gene: LRRK2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: L2HGDH was set to
Phenotypes for gene: L2HGDH were set to Dystonia
Adult onset movement disorder v0.2 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Adult onset movement disorder v0.2 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200
Adult onset movement disorder v0.2 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Adult onset movement disorder v0.2 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia
Adult onset movement disorder v0.2 ISG15 Ellen McDonagh gene: ISG15 was added
gene: ISG15 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISG15 were set to 25307056; 22859821
Phenotypes for gene: ISG15 were set to Immunodeficiency 38 616126
Adult onset movement disorder v0.2 ISCA-37468-Loss Ellen McDonagh Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Adult onset movement disorder v0.2 IPPK Ellen McDonagh gene: IPPK was added
gene: IPPK was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPPK were set to Early Onset Complex Disease
Adult onset movement disorder v0.2 IFIH1 Ellen McDonagh gene: IFIH1 was added
gene: IFIH1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 615846
Adult onset movement disorder v0.2 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HPRT1 was set to
Phenotypes for gene: HPRT1 were set to Dystonia
Adult onset movement disorder v0.2 HPCA Ellen McDonagh gene: HPCA was added
gene: HPCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 30145809; 25799108
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia
Adult onset movement disorder v0.2 HIBCH Ellen McDonagh gene: HIBCH was added
gene: HIBCH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Adult onset movement disorder v0.2 GRN Ellen McDonagh gene: GRN was added
gene: GRN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRN were set to 20301545; 17923627
Phenotypes for gene: GRN were set to Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions; clinical presentation suggestive of cortico-basal/PSP syndrome
Adult onset movement disorder v0.2 GNAO1 Ellen McDonagh gene: GNAO1 was added
gene: GNAO1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAO1 were set to 27068059; 27625011; 26060304; 25966631; 28357411
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Adult onset movement disorder v0.2 GNAL Ellen McDonagh gene: GNAL was added
gene: GNAL was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAL were set to 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567
Phenotypes for gene: GNAL were set to Dystonia 25, 615073; adult-onset cranio-cervical dystonia
Adult onset movement disorder v0.2 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Adult onset movement disorder v0.2 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Adult onset movement disorder v0.2 GIGYF2 Ellen McDonagh gene: GIGYF2 was added
gene: GIGYF2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: GIGYF2 was set to
Publications for gene: GIGYF2 were set to 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296
Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688
Adult onset movement disorder v0.2 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)
Adult onset movement disorder v0.2 GCDH Ellen McDonagh gene: GCDH was added
gene: GCDH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 8900228; 8900227; 10699052; 11174631; 7795610
Adult onset movement disorder v0.2 GBA Ellen McDonagh gene: GBA was added
gene: GBA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27648471; 27717005; 27632223; 29400127; 27779773
Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600
Adult onset movement disorder v0.2 GAMT Ellen McDonagh gene: GAMT was added
gene: GAMT was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: GAMT was set to
Phenotypes for gene: GAMT were set to Dystonia
Adult onset movement disorder v0.2 FTL Ellen McDonagh gene: FTL was added
gene: FTL was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159; movement disorder
Adult onset movement disorder v0.2 FOXRED1 Ellen McDonagh gene: FOXRED1 was added
gene: FOXRED1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FOXRED1 was set to
Phenotypes for gene: FOXRED1 were set to Dystonia
Adult onset movement disorder v0.2 FOXP2 Ellen McDonagh gene: FOXP2 was added
gene: FOXP2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to 22434823; 11586359; 15877281
Phenotypes for gene: FOXP2 were set to Speech-language disorder-1 602081
Adult onset movement disorder v0.2 FOXG1 Ellen McDonagh gene: FOXG1 was added
gene: FOXG1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FOXG1 was set to
Phenotypes for gene: FOXG1 were set to Dystonia
Adult onset movement disorder v0.2 FBXO7 Ellen McDonagh gene: FBXO7 was added
gene: FBXO7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; Early Onset Complex Disease; juvenile parkinsonism; Dystonia; parkinsonian-pyramidal syndrome
Adult onset movement disorder v0.2 FASTKD2 Ellen McDonagh gene: FASTKD2 was added
gene: FASTKD2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to
Phenotypes for gene: FASTKD2 were set to Dystonia
Adult onset movement disorder v0.2 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to
Phenotypes for gene: ERCC6 were set to Dystonia
Adult onset movement disorder v0.2 EIF4G1 Ellen McDonagh gene: EIF4G1 was added
gene: EIF4G1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: EIF4G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EIF4G1 were set to Parkinsons disease 18, 614251
Adult onset movement disorder v0.2 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: EARS2 was set to
Phenotypes for gene: EARS2 were set to Dystonia
Adult onset movement disorder v0.2 DRD5 Ellen McDonagh gene: DRD5 was added
gene: DRD5 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DRD5 was set to
Publications for gene: DRD5 were set to PMID: 17133500
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Adult onset movement disorder v0.2 DRD2 Ellen McDonagh gene: DRD2 was added
gene: DRD2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DRD2 was set to
Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Adult onset movement disorder v0.2 DNAJC6 Ellen McDonagh gene: DNAJC6 was added
gene: DNAJC6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC6 were set to 26528954; 23211418; 27687717; 26703368; 22563501
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19a, juvenile-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19b, early-onset
Adult onset movement disorder v0.2 DDC Ellen McDonagh gene: DDC was added
gene: DDC was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DDC was set to
Phenotypes for gene: DDC were set to Dystonia
Adult onset movement disorder v0.2 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608
Phenotypes for gene: DCTN1 were set to Perry syndrome
Adult onset movement disorder v0.2 DCAF17 Ellen McDonagh gene: DCAF17 was added
gene: DCAF17 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia
Adult onset movement disorder v0.2 DCAF10 Ellen McDonagh gene: DCAF10 was added
gene: DCAF10 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DCAF10 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: CYP27A1 was set to
Phenotypes for gene: CYP27A1 were set to Dystonia
Adult onset movement disorder v0.2 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 26843564
Phenotypes for gene: CSTB were set to microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800
Adult onset movement disorder v0.2 CSF1R Ellen McDonagh gene: CSF1R was added
gene: CSF1R was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to 23787135
Phenotypes for gene: CSF1R were set to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids
Adult onset movement disorder v0.2 CP Ellen McDonagh gene: CP was added
gene: CP was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290
Adult onset movement disorder v0.2 COX15 Ellen McDonagh gene: COX15 was added
gene: COX15 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 COX10 Ellen McDonagh gene: COX10 was added
gene: COX10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX10 were set to 10767350
Adult onset movement disorder v0.2 COASY Ellen McDonagh gene: COASY was added
gene: COASY was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 27021474
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6
Adult onset movement disorder v0.2 CIZ1 Ellen McDonagh gene: CIZ1 was added
gene: CIZ1 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: CIZ1 was set to
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Adult onset movement disorder v0.2 CHMP2B Ellen McDonagh gene: CHMP2B was added
gene: CHMP2B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Adult onset movement disorder v0.2 CHCHD2 Ellen McDonagh gene: CHCHD2 was added
gene: CHCHD2 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 26067110; 26067114; 25662902
Phenotypes for gene: CHCHD2 were set to 616710; Parkinson disease 22, autosomal dominant
Adult onset movement disorder v0.2 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541
Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5
Adult onset movement disorder v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500
Adult onset movement disorder v0.2 C9orf72 Ellen McDonagh gene: C9orf72 was added
gene: C9orf72 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Phenotypes for gene: C9orf72 were set to (Hexanucleotideexpansion); complex parkinsonism; clinical presentation suggestive of cortico-basal/PSP syndrome
Mode of pathogenicity for gene: C9orf72 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia
Adult onset movement disorder v0.2 BDNF Ellen McDonagh gene: BDNF was added
gene: BDNF was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BDNF were set to 23649659; 27780732
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital 209880
Adult onset movement disorder v0.2 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset movement disorder v0.2 BCAP31 Ellen McDonagh gene: BCAP31 was added
gene: BCAP31 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 28332767; 24011989
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Adult onset movement disorder v0.2 AUH Ellen McDonagh gene: AUH was added
gene: AUH was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AUH was set to
Phenotypes for gene: AUH were set to Dystonia
Adult onset movement disorder v0.2 ATXN3 Ellen McDonagh gene: ATXN3 was added
gene: ATXN3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN3 were set to (CAGexpansion); familial parkinsonism
Mode of pathogenicity for gene: ATXN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 ATXN2 Ellen McDonagh gene: ATXN2 was added
gene: ATXN2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN2 were set to (CAGexpansion); familial parkinsonism
Mode of pathogenicity for gene: ATXN2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v0.2 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia
Adult onset movement disorder v0.2 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22850527
Phenotypes for gene: ATP1A3 were set to CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12
Adult onset movement disorder v0.2 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 21060012
Phenotypes for gene: ATP13A2 were set to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome
Adult onset movement disorder v0.2 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Dystonia; Ataxia telangiectasia
Adult onset movement disorder v0.2 ARX Ellen McDonagh gene: ARX was added
gene: ARX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ARX was set to
Phenotypes for gene: ARX were set to Dystonia
Adult onset movement disorder v0.2 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ARSA was set to
Phenotypes for gene: ARSA were set to Dystonia
Adult onset movement disorder v0.2 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Dystonia
Adult onset movement disorder v0.2 AP1S2 Ellen McDonagh Source Expert Review Red was added to AP1S2.
Added phenotypes Dystonia for gene: AP1S2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v0.2 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 18428203; 23756445
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5 304340
Adult onset movement disorder v0.2 ANO3 Ellen McDonagh gene: ANO3 was added
gene: ANO3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Phenotypes for gene: ANO3 were set to familial form of cranio-cervical dystonia; Dystonia 24, 615034
Adult onset movement disorder v0.2 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 20362274
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816
Adult onset movement disorder v0.2 AFG3L2 Ellen McDonagh gene: AFG3L2 was added
gene: AFG3L2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AFG3L2 was set to
Phenotypes for gene: AFG3L2 were set to Dystonia
Adult onset movement disorder v0.2 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to dystonia; Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703
Adult onset movement disorder v0.2 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 23001123; 28139822
Phenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010
Adult onset movement disorder v0.2 ACTB Ellen McDonagh gene: ACTB was added
gene: ACTB was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ACTB was set to
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Structural eye disease v0.5 SIX6 Ellen McDonagh Added comment: Comment on mode of inheritance: This is a Green gene on the Anophthalmia or microphthalmia gene panel (Version 1.15, code 34) with a mode of inheritance of monoallelic for Anophthalmia/Microphthalmia/ Microphthalmia with cataract. It is Amber on the Ocular coloboma gene panel (Version 1.20, code 294), with the mode of inheritance BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Optic disc anomalies with retinal and/or macular dystrophy, 212550. It is therefore monoallelic here, to represent the mode of inheritance for the highest rating.
Structural eye disease v0.5 SIX6 Ellen McDonagh Mode of inheritance for gene: SIX6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.2 WDR36 Ellen McDonagh gene: WDR36 was added
gene: WDR36 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR36 were set to 17353431; 18172102; 15677485
Phenotypes for gene: WDR36 were set to Glaucoma 1, open angle, G 609887
Structural eye disease v0.2 SBF2 Ellen McDonagh gene: SBF2 was added
gene: SBF2 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma
Structural eye disease v0.2 LTBP2 Ellen McDonagh gene: LTBP2 was added
gene: LTBP2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP2 were set to 19656777; 19361779; 21081970; 20179738
Phenotypes for gene: LTBP2 were set to Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma
Structural eye disease v0.2 ZNF513 Ellen McDonagh gene: ZNF513 was added
gene: ZNF513 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF513 was set to
Phenotypes for gene: ZNF513 were set to Eye Disorders
Structural eye disease v0.2 ZNF423 Ellen McDonagh gene: ZNF423 was added
gene: ZNF423 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF423 was set to
Phenotypes for gene: ZNF423 were set to Eye Disorders
Structural eye disease v0.2 XPC Ellen McDonagh gene: XPC was added
gene: XPC was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: XPC was set to
Structural eye disease v0.2 XPA Ellen McDonagh gene: XPA was added
gene: XPA was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: XPA was set to
Structural eye disease v0.2 WT1 Ellen McDonagh gene: WT1 was added
gene: WT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WT1 was set to
Phenotypes for gene: WT1 were set to Eye Disorders
Structural eye disease v0.2 WHRN Ellen McDonagh gene: WHRN was added
gene: WHRN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WHRN was set to
Phenotypes for gene: WHRN were set to Eye Disorders
Structural eye disease v0.2 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WFS1 was set to
Phenotypes for gene: WFS1 were set to Eye Disorders
Structural eye disease v0.2 WDPCP Ellen McDonagh gene: WDPCP was added
gene: WDPCP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WDPCP was set to
Phenotypes for gene: WDPCP were set to Eye Disorders
Structural eye disease v0.2 VCAN Ellen McDonagh gene: VCAN was added
gene: VCAN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: VCAN was set to
Phenotypes for gene: VCAN were set to Eye Disorders
Structural eye disease v0.2 VAX1 Ellen McDonagh gene: VAX1 was added
gene: VAX1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: VAX1 was set to
Phenotypes for gene: VAX1 were set to Microphthalmia, syndromic 11, 614402
Structural eye disease v0.2 USH2A Ellen McDonagh gene: USH2A was added
gene: USH2A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH2A was set to
Phenotypes for gene: USH2A were set to Eye Disorders
Structural eye disease v0.2 USH1G Ellen McDonagh gene: USH1G was added
gene: USH1G was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH1G was set to
Phenotypes for gene: USH1G were set to Eye Disorders
Structural eye disease v0.2 USH1C Ellen McDonagh gene: USH1C was added
gene: USH1C was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH1C was set to
Phenotypes for gene: USH1C were set to Eye Disorders
Structural eye disease v0.2 UNC119 Ellen McDonagh gene: UNC119 was added
gene: UNC119 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: UNC119 was set to
Phenotypes for gene: UNC119 were set to Eye Disorders
Structural eye disease v0.2 TYRP1 Ellen McDonagh gene: TYRP1 was added
gene: TYRP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TYRP1 was set to
Phenotypes for gene: TYRP1 were set to Eye Disorders
Structural eye disease v0.2 TYR Ellen McDonagh gene: TYR was added
gene: TYR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TYR was set to
Phenotypes for gene: TYR were set to Eye Disorders
Structural eye disease v0.2 TULP1 Ellen McDonagh gene: TULP1 was added
gene: TULP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TULP1 was set to
Phenotypes for gene: TULP1 were set to Eye Disorders
Structural eye disease v0.2 TTC8 Ellen McDonagh gene: TTC8 was added
gene: TTC8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC8 was set to
Phenotypes for gene: TTC8 were set to Eye Disorders
Structural eye disease v0.2 TTC21B Ellen McDonagh gene: TTC21B was added
gene: TTC21B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC21B was set to
Phenotypes for gene: TTC21B were set to Eye Disorders
Structural eye disease v0.2 TSPAN12 Ellen McDonagh gene: TSPAN12 was added
gene: TSPAN12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TSPAN12 was set to
Phenotypes for gene: TSPAN12 were set to Eye Disorders
Structural eye disease v0.2 TRPM1 Ellen McDonagh gene: TRPM1 was added
gene: TRPM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRPM1 was set to
Phenotypes for gene: TRPM1 were set to Eye Disorders
Structural eye disease v0.2 TRIM44 Ellen McDonagh gene: TRIM44 was added
gene: TRIM44 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM44 were set to 26394807
Phenotypes for gene: TRIM44 were set to ?Aniridia 3
Structural eye disease v0.2 TRIM32 Ellen McDonagh gene: TRIM32 was added
gene: TRIM32 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Eye Disorders
Structural eye disease v0.2 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TPP1 was set to
Phenotypes for gene: TPP1 were set to Eye Disorders
Structural eye disease v0.2 TP53BP2 Ellen McDonagh gene: TP53BP2 was added
gene: TP53BP2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TP53BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53BP2 were set to 28150229
Phenotypes for gene: TP53BP2 were set to Primary Open Angle Glaucoma
Structural eye disease v0.2 TOPORS Ellen McDonagh gene: TOPORS was added
gene: TOPORS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TOPORS was set to
Phenotypes for gene: TOPORS were set to Eye Disorders
Structural eye disease v0.2 TMEM67 Ellen McDonagh gene: TMEM67 was added
gene: TMEM67 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to 19058225
Phenotypes for gene: TMEM67 were set to COACH syndrome, 216360; Joubert syndrome 6
Structural eye disease v0.2 TMEM237 Ellen McDonagh gene: TMEM237 was added
gene: TMEM237 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM237 were set to 22152675
Phenotypes for gene: TMEM237 were set to Joubert syndrome
Structural eye disease v0.2 TMEM231 Ellen McDonagh gene: TMEM231 was added
gene: TMEM231 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM231 were set to 23012439; 23349226
Phenotypes for gene: TMEM231 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TMEM216 Ellen McDonagh gene: TMEM216 was added
gene: TMEM216 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM216 were set to 20036350; 22282472; 20512146
Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TMEM138 Ellen McDonagh gene: TMEM138 was added
gene: TMEM138 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM138 were set to 22282472
Phenotypes for gene: TMEM138 were set to Joubert syndrome
Structural eye disease v0.2 TMEM126A Ellen McDonagh gene: TMEM126A was added
gene: TMEM126A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM126A was set to
Phenotypes for gene: TMEM126A were set to Eye Disorders
Structural eye disease v0.2 TIMP3 Ellen McDonagh gene: TIMP3 was added
gene: TIMP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TIMP3 was set to
Phenotypes for gene: TIMP3 were set to Eye Disorders
Structural eye disease v0.2 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Eye Disorders
Structural eye disease v0.2 TFAP2A Ellen McDonagh gene: TFAP2A was added
gene: TFAP2A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFAP2A were set to 10767004, 18423521
Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome , 113620
Structural eye disease v0.2 TENM3 Ellen McDonagh gene: TENM3 was added
gene: TENM3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 22766609, 27103084, 24859618
Phenotypes for gene: TENM3 were set to Microphthalmia, isolated, with coloboma 9, 615145
Structural eye disease v0.2 TCTN3 Ellen McDonagh gene: TCTN3 was added
gene: TCTN3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 25118024
Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV
Structural eye disease v0.2 TCTN2 Ellen McDonagh gene: TCTN2 was added
gene: TCTN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN2 were set to 21565611; 25118024
Phenotypes for gene: TCTN2 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TCTN1 Ellen McDonagh gene: TCTN1 was added
gene: TCTN1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN1 were set to 21725307; 22693042
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Structural eye disease v0.2 SPINT2 Ellen McDonagh gene: SPINT2 was added
gene: SPINT2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 29575628; 24142340
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420; congenital sodium diarrhea with additional features; optic nerve coloboma
Structural eye disease v0.2 SPATA7 Ellen McDonagh gene: SPATA7 was added
gene: SPATA7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SPATA7 was set to
Phenotypes for gene: SPATA7 were set to Eye Disorders
Structural eye disease v0.2 SNRNP200 Ellen McDonagh gene: SNRNP200 was added
gene: SNRNP200 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SNRNP200 was set to
Phenotypes for gene: SNRNP200 were set to Eye Disorders
Structural eye disease v0.2 SLC45A2 Ellen McDonagh gene: SLC45A2 was added
gene: SLC45A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC45A2 was set to
Phenotypes for gene: SLC45A2 were set to Eye Disorders
Structural eye disease v0.2 SLC24A5 Ellen McDonagh gene: SLC24A5 was added
gene: SLC24A5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC24A5 was set to
Phenotypes for gene: SLC24A5 were set to Eye Disorders
Structural eye disease v0.2 SLC24A1 Ellen McDonagh gene: SLC24A1 was added
gene: SLC24A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC24A1 was set to
Phenotypes for gene: SLC24A1 were set to Eye Disorders
Structural eye disease v0.2 SIX3 Ellen McDonagh gene: SIX3 was added
gene: SIX3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SIX3 were set to 21976454
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 157170
Structural eye disease v0.2 SEMA4A Ellen McDonagh gene: SEMA4A was added
gene: SEMA4A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SEMA4A was set to
Phenotypes for gene: SEMA4A were set to Eye Disorders
Structural eye disease v0.2 SDCCAG8 Ellen McDonagh gene: SDCCAG8 was added
gene: SDCCAG8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to
Phenotypes for gene: SDCCAG8 were set to Eye Disorders
Structural eye disease v0.2 SALL2 Ellen McDonagh gene: SALL2 was added
gene: SALL2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SALL2 were set to 24412933
Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive 216820
Structural eye disease v0.2 SAG Ellen McDonagh gene: SAG was added
gene: SAG was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SAG was set to
Phenotypes for gene: SAG were set to Eye Disorders
Structural eye disease v0.2 RS1 Ellen McDonagh gene: RS1 was added
gene: RS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RS1 was set to
Phenotypes for gene: RS1 were set to Eye Disorders
Structural eye disease v0.2 RPGRIP1 Ellen McDonagh gene: RPGRIP1 was added
gene: RPGRIP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPGRIP1 was set to
Phenotypes for gene: RPGRIP1 were set to Eye Disorders
Structural eye disease v0.2 RPGR Ellen McDonagh gene: RPGR was added
gene: RPGR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPGR was set to
Phenotypes for gene: RPGR were set to Eye Disorders
Structural eye disease v0.2 RPE65 Ellen McDonagh gene: RPE65 was added
gene: RPE65 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPE65 was set to
Phenotypes for gene: RPE65 were set to Eye Disorders
Structural eye disease v0.2 RP9 Ellen McDonagh gene: RP9 was added
gene: RP9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP9 was set to
Phenotypes for gene: RP9 were set to Eye Disorders
Structural eye disease v0.2 RP2 Ellen McDonagh gene: RP2 was added
gene: RP2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP2 was set to
Phenotypes for gene: RP2 were set to Eye Disorders
Structural eye disease v0.2 RP1 Ellen McDonagh gene: RP1 was added
gene: RP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP1 was set to
Phenotypes for gene: RP1 were set to Eye Disorders
Structural eye disease v0.2 ROM1 Ellen McDonagh gene: ROM1 was added
gene: ROM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ROM1 was set to
Phenotypes for gene: ROM1 were set to Eye Disorders
Structural eye disease v0.2 RLBP1 Ellen McDonagh gene: RLBP1 was added
gene: RLBP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RLBP1 was set to
Phenotypes for gene: RLBP1 were set to Eye Disorders
Structural eye disease v0.2 RIMS1 Ellen McDonagh gene: RIMS1 was added
gene: RIMS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RIMS1 was set to
Phenotypes for gene: RIMS1 were set to Eye Disorders
Structural eye disease v0.2 RHO Ellen McDonagh gene: RHO was added
gene: RHO was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RHO was set to
Phenotypes for gene: RHO were set to Eye Disorders
Structural eye disease v0.2 RGS9BP Ellen McDonagh gene: RGS9BP was added
gene: RGS9BP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGS9BP was set to
Phenotypes for gene: RGS9BP were set to Eye Disorders
Structural eye disease v0.2 RGS9 Ellen McDonagh gene: RGS9 was added
gene: RGS9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGS9 was set to
Phenotypes for gene: RGS9 were set to Eye Disorders
Structural eye disease v0.2 RGR Ellen McDonagh gene: RGR was added
gene: RGR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGR was set to
Phenotypes for gene: RGR were set to Eye Disorders
Structural eye disease v0.2 RDH5 Ellen McDonagh gene: RDH5 was added
gene: RDH5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RDH5 was set to
Phenotypes for gene: RDH5 were set to Eye Disorders
Structural eye disease v0.2 RDH12 Ellen McDonagh gene: RDH12 was added
gene: RDH12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RDH12 was set to
Phenotypes for gene: RDH12 were set to Eye Disorders
Structural eye disease v0.2 RD3 Ellen McDonagh gene: RD3 was added
gene: RD3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RD3 was set to
Phenotypes for gene: RD3 were set to Eye Disorders
Structural eye disease v0.2 RBP3 Ellen McDonagh gene: RBP3 was added
gene: RBP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RBP3 was set to
Phenotypes for gene: RBP3 were set to Eye Disorders
Structural eye disease v0.2 RAX2 Ellen McDonagh gene: RAX2 was added
gene: RAX2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RAX2 was set to
Phenotypes for gene: RAX2 were set to Eye Disorders
Structural eye disease v0.2 PRPH2 Ellen McDonagh gene: PRPH2 was added
gene: PRPH2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPH2 was set to
Phenotypes for gene: PRPH2 were set to Eye Disorders
Structural eye disease v0.2 PRPF8 Ellen McDonagh gene: PRPF8 was added
gene: PRPF8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF8 was set to
Phenotypes for gene: PRPF8 were set to Eye Disorders
Structural eye disease v0.2 PRPF6 Ellen McDonagh gene: PRPF6 was added
gene: PRPF6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF6 was set to
Phenotypes for gene: PRPF6 were set to Eye Disorders
Structural eye disease v0.2 PRPF31 Ellen McDonagh gene: PRPF31 was added
gene: PRPF31 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF31 was set to
Phenotypes for gene: PRPF31 were set to Eye Disorders
Structural eye disease v0.2 PRPF3 Ellen McDonagh gene: PRPF3 was added
gene: PRPF3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF3 was set to
Phenotypes for gene: PRPF3 were set to Eye Disorders
Structural eye disease v0.2 PROM1 Ellen McDonagh gene: PROM1 was added
gene: PROM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PROM1 was set to
Phenotypes for gene: PROM1 were set to Eye Disorders
Structural eye disease v0.2 PRCD Ellen McDonagh gene: PRCD was added
gene: PRCD was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRCD was set to
Phenotypes for gene: PRCD were set to Eye Disorders
Structural eye disease v0.2 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PPT1 was set to
Phenotypes for gene: PPT1 were set to Eye Disorders
Structural eye disease v0.2 POLH Ellen McDonagh gene: POLH was added
gene: POLH was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: POLH was set to
Structural eye disease v0.2 PLA2G5 Ellen McDonagh gene: PLA2G5 was added
gene: PLA2G5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PLA2G5 was set to
Phenotypes for gene: PLA2G5 were set to Eye Disorders
Structural eye disease v0.2 PITX3 Ellen McDonagh gene: PITX3 was added
gene: PITX3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PITX3 was set to
Phenotypes for gene: PITX3 were set to Eye Disorders
Structural eye disease v0.2 PITPNM3 Ellen McDonagh gene: PITPNM3 was added
gene: PITPNM3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PITPNM3 was set to
Phenotypes for gene: PITPNM3 were set to Eye Disorders
Structural eye disease v0.2 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PHYH was set to
Phenotypes for gene: PHYH were set to Eye Disorders
Structural eye disease v0.2 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PEX7 was set to
Phenotypes for gene: PEX7 were set to Eye Disorders
Structural eye disease v0.2 PDZD7 Ellen McDonagh gene: PDZD7 was added
gene: PDZD7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDZD7 was set to
Phenotypes for gene: PDZD7 were set to Eye Disorders
Structural eye disease v0.2 PDE6H Ellen McDonagh gene: PDE6H was added
gene: PDE6H was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6H was set to
Phenotypes for gene: PDE6H were set to Eye Disorders
Structural eye disease v0.2 PDE6G Ellen McDonagh gene: PDE6G was added
gene: PDE6G was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6G was set to
Phenotypes for gene: PDE6G were set to Eye Disorders
Structural eye disease v0.2 PDE6C Ellen McDonagh gene: PDE6C was added
gene: PDE6C was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6C was set to
Phenotypes for gene: PDE6C were set to Eye Disorders
Structural eye disease v0.2 PDE6B Ellen McDonagh gene: PDE6B was added
gene: PDE6B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6B was set to
Phenotypes for gene: PDE6B were set to Eye Disorders
Structural eye disease v0.2 PDE6A Ellen McDonagh gene: PDE6A was added
gene: PDE6A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6A was set to
Phenotypes for gene: PDE6A were set to Eye Disorders
Structural eye disease v0.2 PCDH15 Ellen McDonagh gene: PCDH15 was added
gene: PCDH15 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PCDH15 was set to
Phenotypes for gene: PCDH15 were set to Eye Disorders
Structural eye disease v0.2 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPA3 was set to
Phenotypes for gene: OPA3 were set to Eye Disorders
Structural eye disease v0.2 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPA1 was set to
Phenotypes for gene: OPA1 were set to {Glaucoma, normal tension, susceptibility to} 606657
Structural eye disease v0.2 OFD1 Ellen McDonagh gene: OFD1 was added
gene: OFD1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OFD1 was set to Other - please specifiy in evaluation comments
Publications for gene: OFD1 were set to 22353940; 19800048
Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome I; X-linked Joubert syndrome
Structural eye disease v0.2 OCA2 Ellen McDonagh gene: OCA2 was added
gene: OCA2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OCA2 was set to
Phenotypes for gene: OCA2 were set to Eye Disorders
Structural eye disease v0.2 OAT Ellen McDonagh gene: OAT was added
gene: OAT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OAT was set to
Phenotypes for gene: OAT were set to Eye Disorders
Structural eye disease v0.2 NYX Ellen McDonagh gene: NYX was added
gene: NYX was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NYX was set to
Phenotypes for gene: NYX were set to Eye Disorders
Structural eye disease v0.2 NTF4 Ellen McDonagh gene: NTF4 was added
gene: NTF4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NTF4 was set to
Phenotypes for gene: NTF4 were set to Glaucoma 1, open angle, 1O, 613100
Structural eye disease v0.2 NRL Ellen McDonagh gene: NRL was added
gene: NRL was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NRL was set to
Phenotypes for gene: NRL were set to Eye Disorders
Structural eye disease v0.2 NR2E3 Ellen McDonagh gene: NR2E3 was added
gene: NR2E3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NR2E3 was set to
Phenotypes for gene: NR2E3 were set to Eye Disorders
Structural eye disease v0.2 NPHP4 Ellen McDonagh gene: NPHP4 was added
gene: NPHP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP4 was set to
Phenotypes for gene: NPHP4 were set to Eye Disorders
Structural eye disease v0.2 NPHP3 Ellen McDonagh gene: NPHP3 was added
gene: NPHP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP3 was set to
Phenotypes for gene: NPHP3 were set to Eye Disorders
Structural eye disease v0.2 NPHP1 Ellen McDonagh gene: NPHP1 was added
gene: NPHP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP1 were set to 15689444; 15138899; 22982934
Phenotypes for gene: NPHP1 were set to Joubert syndrome, Nephronophthisis
Structural eye disease v0.2 NDP Ellen McDonagh gene: NDP was added
gene: NDP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NDP was set to
Phenotypes for gene: NDP were set to Eye Disorders
Structural eye disease v0.2 NAA10 Ellen McDonagh gene: NAA10 was added
gene: NAA10 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NAA10 were set to 24431331, 20301694
Phenotypes for gene: NAA10 were set to Microphthalmia, syndromic 1, 309800
Structural eye disease v0.2 MYO7A Ellen McDonagh gene: MYO7A was added
gene: MYO7A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MYO7A was set to
Phenotypes for gene: MYO7A were set to Eye Disorders
Structural eye disease v0.2 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MTTP was set to
Phenotypes for gene: MTTP were set to Eye Disorders
Structural eye disease v0.2 MPLKIP Ellen McDonagh gene: MPLKIP was added
gene: MPLKIP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MPLKIP was set to
Structural eye disease v0.2 MKS1 Ellen McDonagh gene: MKS1 was added
gene: MKS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MKS1 was set to
Phenotypes for gene: MKS1 were set to Eye Disorders
Structural eye disease v0.2 MKKS Ellen McDonagh gene: MKKS was added
gene: MKKS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MKKS was set to
Phenotypes for gene: MKKS were set to Eye Disorders
Structural eye disease v0.2 MIR204 Ellen McDonagh gene: MIR204 was added
gene: MIR204 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract 616722
Structural eye disease v0.2 MFSD8 Ellen McDonagh gene: MFSD8 was added
gene: MFSD8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MFSD8 was set to
Phenotypes for gene: MFSD8 were set to Eye Disorders
Structural eye disease v0.2 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MFN2 was set to
Phenotypes for gene: MFN2 were set to Eye Disorders
Structural eye disease v0.2 MERTK Ellen McDonagh gene: MERTK was added
gene: MERTK was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MERTK was set to
Phenotypes for gene: MERTK were set to Eye Disorders
Structural eye disease v0.2 MAK Ellen McDonagh gene: MAK was added
gene: MAK was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MAK was set to
Phenotypes for gene: MAK were set to Eye Disorders
Structural eye disease v0.2 LZTFL1 Ellen McDonagh gene: LZTFL1 was added
gene: LZTFL1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LZTFL1 was set to
Phenotypes for gene: LZTFL1 were set to Eye Disorders
Structural eye disease v0.2 LRP5 Ellen McDonagh gene: LRP5 was added
gene: LRP5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRP5 was set to
Phenotypes for gene: LRP5 were set to Eye Disorders
Structural eye disease v0.2 LRMDA Ellen McDonagh gene: LRMDA was added
gene: LRMDA was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRMDA was set to
Phenotypes for gene: LRMDA were set to Eye Disorders
Structural eye disease v0.2 LRIT3 Ellen McDonagh gene: LRIT3 was added
gene: LRIT3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRIT3 was set to
Phenotypes for gene: LRIT3 were set to Eye Disorders
Structural eye disease v0.2 LRAT Ellen McDonagh gene: LRAT was added
gene: LRAT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRAT was set to
Phenotypes for gene: LRAT were set to Eye Disorders
Structural eye disease v0.2 LCA5 Ellen McDonagh gene: LCA5 was added
gene: LCA5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LCA5 was set to
Phenotypes for gene: LCA5 were set to Eye Disorders
Structural eye disease v0.2 KLHL7 Ellen McDonagh gene: KLHL7 was added
gene: KLHL7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KLHL7 was set to
Phenotypes for gene: KLHL7 were set to Eye Disorders
Structural eye disease v0.2 KIF7 Ellen McDonagh gene: KIF7 was added
gene: KIF7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 21633164
Phenotypes for gene: KIF7 were set to Joubert syndrome; Acrocallosal syndrome
Structural eye disease v0.2 KCTD7 Ellen McDonagh gene: KCTD7 was added
gene: KCTD7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCTD7 was set to
Phenotypes for gene: KCTD7 were set to Eye Disorders
Structural eye disease v0.2 KCNV2 Ellen McDonagh gene: KCNV2 was added
gene: KCNV2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCNV2 was set to
Phenotypes for gene: KCNV2 were set to Eye Disorders
Structural eye disease v0.2 KCNJ13 Ellen McDonagh gene: KCNJ13 was added
gene: KCNJ13 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCNJ13 was set to
Phenotypes for gene: KCNJ13 were set to Eye Disorders
Structural eye disease v0.2 IQCB1 Ellen McDonagh gene: IQCB1 was added
gene: IQCB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IQCB1 was set to
Phenotypes for gene: IQCB1 were set to Eye Disorders
Structural eye disease v0.2 INVS Ellen McDonagh gene: INVS was added
gene: INVS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: INVS was set to
Phenotypes for gene: INVS were set to Eye Disorders
Structural eye disease v0.2 INPP5E Ellen McDonagh gene: INPP5E was added
gene: INPP5E was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 23386033; 26748598
Phenotypes for gene: INPP5E were set to Joubert syndrome
Structural eye disease v0.2 IMPG2 Ellen McDonagh gene: IMPG2 was added
gene: IMPG2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IMPG2 was set to
Phenotypes for gene: IMPG2 were set to Eye Disorders
Structural eye disease v0.2 IMPDH1 Ellen McDonagh gene: IMPDH1 was added
gene: IMPDH1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IMPDH1 was set to
Phenotypes for gene: IMPDH1 were set to Eye Disorders
Structural eye disease v0.2 IDH3B Ellen McDonagh gene: IDH3B was added
gene: IDH3B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IDH3B was set to
Phenotypes for gene: IDH3B were set to Eye Disorders
Structural eye disease v0.2 HMGB3 Ellen McDonagh gene: HMGB3 was added
gene: HMGB3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HMGB3 were set to 4998085
Phenotypes for gene: HMGB3 were set to Microphthalmia, syndromic 13, 300915
Structural eye disease v0.2 HDAC6 Ellen McDonagh gene: HDAC6 was added
gene: HDAC6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HDAC6 was set to
Phenotypes for gene: HDAC6 were set to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
Structural eye disease v0.2 HARS Ellen McDonagh gene: HARS was added
gene: HARS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HARS was set to
Phenotypes for gene: HARS were set to Eye Disorders
Structural eye disease v0.2 GUCY2D Ellen McDonagh gene: GUCY2D was added
gene: GUCY2D was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCY2D was set to
Phenotypes for gene: GUCY2D were set to Eye Disorders
Structural eye disease v0.2 GUCA1B Ellen McDonagh gene: GUCA1B was added
gene: GUCA1B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCA1B was set to
Phenotypes for gene: GUCA1B were set to Eye Disorders
Structural eye disease v0.2 GUCA1A Ellen McDonagh gene: GUCA1A was added
gene: GUCA1A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCA1A was set to
Phenotypes for gene: GUCA1A were set to Eye Disorders
Structural eye disease v0.2 GTF2H5 Ellen McDonagh gene: GTF2H5 was added
gene: GTF2H5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GTF2H5 was set to
Structural eye disease v0.2 GRN Ellen McDonagh gene: GRN was added
gene: GRN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GRN was set to
Phenotypes for gene: GRN were set to Eye Disorders
Structural eye disease v0.2 GRM6 Ellen McDonagh gene: GRM6 was added
gene: GRM6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GRM6 was set to
Phenotypes for gene: GRM6 were set to Eye Disorders
Structural eye disease v0.2 GPR179 Ellen McDonagh gene: GPR179 was added
gene: GPR179 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GPR179 was set to
Phenotypes for gene: GPR179 were set to Eye Disorders
Structural eye disease v0.2 GPR143 Ellen McDonagh gene: GPR143 was added
gene: GPR143 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GPR143 was set to
Phenotypes for gene: GPR143 were set to Eye Disorders
Structural eye disease v0.2 GNAT2 Ellen McDonagh gene: GNAT2 was added
gene: GNAT2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GNAT2 was set to
Phenotypes for gene: GNAT2 were set to Eye Disorders
Structural eye disease v0.2 GNAT1 Ellen McDonagh gene: GNAT1 was added
gene: GNAT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GNAT1 was set to
Phenotypes for gene: GNAT1 were set to Eye Disorders
Structural eye disease v0.2 GDF6 Ellen McDonagh gene: GDF6 was added
gene: GDF6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GDF6 was set to
Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant, 118100
Structural eye disease v0.2 GDF3 Ellen McDonagh gene: GDF3 was added
gene: GDF3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GDF3 was set to
Phenotypes for gene: GDF3 were set to Klippel-Feil syndrome 3, autosomal dominant, 613702
Structural eye disease v0.2 FZD4 Ellen McDonagh gene: FZD4 was added
gene: FZD4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FZD4 was set to
Phenotypes for gene: FZD4 were set to Eye Disorders
Structural eye disease v0.2 FSCN2 Ellen McDonagh gene: FSCN2 was added
gene: FSCN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FSCN2 was set to
Phenotypes for gene: FSCN2 were set to Eye Disorders
Structural eye disease v0.2 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FLVCR1 was set to
Phenotypes for gene: FLVCR1 were set to Eye Disorders
Structural eye disease v0.2 FAM161A Ellen McDonagh gene: FAM161A was added
gene: FAM161A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FAM161A was set to
Phenotypes for gene: FAM161A were set to Eye Disorders
Structural eye disease v0.2 EYS Ellen McDonagh gene: EYS was added
gene: EYS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: EYS was set to
Phenotypes for gene: EYS were set to Eye Disorders
Structural eye disease v0.2 ERCC8 Ellen McDonagh gene: ERCC8 was added
gene: ERCC8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC8 was set to
Structural eye disease v0.2 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Cerebrooculofacioskeletal Syndrome
Structural eye disease v0.2 ERCC5 Ellen McDonagh gene: ERCC5 was added
gene: ERCC5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC5 was set to
Structural eye disease v0.2 ERCC4 Ellen McDonagh gene: ERCC4 was added
gene: ERCC4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC4 was set to
Structural eye disease v0.2 ERCC3 Ellen McDonagh gene: ERCC3 was added
gene: ERCC3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC3 was set to
Structural eye disease v0.2 ERCC2 Ellen McDonagh gene: ERCC2 was added
gene: ERCC2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC2 was set to
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
Structural eye disease v0.2 ERCC1 Ellen McDonagh gene: ERCC1 was added
gene: ERCC1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC1 was set to
Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, 610758
Structural eye disease v0.2 ELP4 Ellen McDonagh gene: ELP4 was added
gene: ELP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP4 were set to 24290376
Phenotypes for gene: ELP4 were set to ?Aniridia 2
Structural eye disease v0.2 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL4 was set to
Phenotypes for gene: ELOVL4 were set to Eye Disorders
Structural eye disease v0.2 EFEMP1 Ellen McDonagh gene: EFEMP1 was added
gene: EFEMP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: EFEMP1 was set to
Phenotypes for gene: EFEMP1 were set to Eye Disorders
Structural eye disease v0.2 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DHDDS was set to
Phenotypes for gene: DHDDS were set to Eye Disorders
Structural eye disease v0.2 DDB2 Ellen McDonagh gene: DDB2 was added
gene: DDB2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DDB2 was set to
Structural eye disease v0.2 DDB1 Ellen McDonagh gene: DDB1 was added
gene: DDB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DDB1 was set to
Structural eye disease v0.2 CYP4V2 Ellen McDonagh gene: CYP4V2 was added
gene: CYP4V2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP4V2 was set to
Phenotypes for gene: CYP4V2 were set to Eye Disorders
Structural eye disease v0.2 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP27A1 was set to
Phenotypes for gene: CYP27A1 were set to Eye Disorders
Structural eye disease v0.2 CTSD Ellen McDonagh gene: CTSD was added
gene: CTSD was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CTSD was set to
Phenotypes for gene: CTSD were set to Eye Disorders