Activity

Date Panel Item Activity
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Primary immunodeficiency disorders v1.19 RAC2 Louise Daugherty commented on gene: RAC2: Zornitza Stark (VCGS) , pers. comm. notes 2 families/functional evidence and rates the gene Green. However, there is only a single variant reported and confirmed in the literature NM_002872.4(RAC2):c.169G>A (p.Asp57Asn) that result in Neutrophil immunodeficiency syndrome. There is a second variant reported in clinvar by a Invitae, but although the phenotype is attributed to Neutrophil immunodeficiency syndrome, the affected status of the patient is described as 'unknown', so it was decided to keep this gene Amber until more robust evidence is published to support gene-disease relationship
Primary immunodeficiency disorders v1.19 RAC2 Louise Daugherty commented on gene: RAC2: PMID: 10961859 reported functional studies demonstrating that the D57N mutant behaves in a dominant-negative fashion at the cellular level.
Primary immunodeficiency disorders v1.19 FCN3 Louise Daugherty edited their review of gene: FCN3: Added comment: Zornitza Stark (VCGS) , pers. comm. notes there are multiple cases reported, but single variant, and rates the gene Green. However, as highlighted by previous expert review it is not suitable for straightforward diagnostic reporting process, futher evidence is needed since the consequences of FCN3 deficiency do not seem to be not clear-cut, and it has been suggested that it may act as a disease modifier.; Changed rating: RED
Primary immunodeficiency disorders v1.19 CD247 Louise Daugherty commented on gene: CD247: Internal clinical team agree there is difficulty of distinguishing whether these are separate cases. As this gene has been reviewed recently with an immunology expert it was decided to keep this gene Amber until further less ambiguous evidence is published
Primary immunodeficiency disorders v1.19 CARD14 Louise Daugherty Phenotypes for gene: CARD14 were changed from CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders to CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders; immune dysregulation
Primary immunodeficiency disorders v1.18 CARD14 Louise Daugherty commented on gene: CARD14: Additional external review added so this gene was reviewed again. Pathogenic variants in CARD14 results in a monogenic autoinflammatory disease, however the the clinical manifestation is dermatological rather than immunological presentation. This gene will remain as Amber on this panel, as it is rated Green on the generalised pustular psoriasis panel
Generalised pustular psoriasis v1.8 CARD14 Louise Daugherty Phenotypes for gene: CARD14 were changed from CARD14 mediated psoriasis Psoriasis 2, 602723 Pityriasis rubra pilaris,173200 Other autoinflammatory diseases with known genetic defect to CARD14 mediated psoriasis Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect
Primary immunodeficiency disorders v1.18 CARD14 Louise Daugherty Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250
Primary immunodeficiency disorders v1.17 FCGR3A Louise Daugherty commented on gene: FCGR3A: Additional external review added so this gene was reviewed again. Agree to keep this gene Amber until further evidence, especially noted high population frequency, including homozygotes in ExAC.
Primary immunodeficiency disorders v1.17 RIPK1 Louise Daugherty Classified gene: RIPK1 as Green List (high evidence)
Primary immunodeficiency disorders v1.17 RIPK1 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
Primary immunodeficiency disorders v1.17 RIPK1 Louise Daugherty Gene: ripk1 has been classified as Green List (High Evidence).
Primary immunodeficiency disorders v1.16 RIPK1 Louise Daugherty edited their review of gene: RIPK1: Added comment: From OMIM : Lourenco et al. (2018) PMID: 30026316 reports 4 patients from 3 unrelated consanguineous families with immunodeficiency-57 identifying homozygous loss-of-function mutations in the RIPK1 gene. The variants segregated with the disorder in the families and were not found in the gnomAD database. Functional studies of patient cells showed impaired mitogen-activated protein kinase activation, impaired phosphorylation of downstream signaling molecules, impaired proinflammatory signaling downstream of TNFR1 and TLR3 and defective secretion of certain cytokines. Similar results were observed in vitro in a monocyte-like cell line with CRISPR/Cas9-mediated knockdown of RAPK1. The findings indicated that RIPK1 plays a critical role in the human immune system.; Changed rating: GREEN
Primary immunodeficiency disorders v1.16 RIPK1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid.
Primary immunodeficiency disorders v1.16 RIPK1 Louise Daugherty Phenotypes for gene: RIPK1 were changed from Severe immunodeficiency, arthritis, and intestinal inflammation to Immunodeficiency 57, 618108; Severe immunodeficiency, arthritis, and intestinal inflammation
Primary immunodeficiency disorders v1.15 RIPK1 Louise Daugherty Added comment: Comment on publications: PMID:30026316 reported four patients from three unrelated families with complete RIPK1deficiency caused by rare homozygous mutations. The patients suffered from recurrent infections, early-onset inflammatory bowel disease, and progressive polyarthritis.
Primary immunodeficiency disorders v1.15 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to 30026316
Primary immunodeficiency disorders v1.14 RIPK1 Louise Daugherty Added comment: Comment on publications: DOI: 10.1126/science.aar2641 = PMID: 30026316
Primary immunodeficiency disorders v1.14 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to DOI: 10.1126/science.aar2641, no PMID yet
Primary immunodeficiency disorders v1.13 RASGRP1 Louise Daugherty Classified gene: RASGRP1 as Green List (high evidence)
Primary immunodeficiency disorders v1.13 RASGRP1 Louise Daugherty Added comment: Comment on list classification: Changed status from Red to Green from external review and reference to two recent publications, Somekh I et al., PMID: 30030704 (2018) and Winter S et al., PMID: 29282224, there are more than three unrelated families described with immunodeficiency phenotype.
Primary immunodeficiency disorders v1.13 RASGRP1 Louise Daugherty Gene: rasgrp1 has been classified as Green List (High Evidence).
Primary immunodeficiency disorders v1.12 RASGRP1 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by external reviewer
Primary immunodeficiency disorders v1.12 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency,
Primary immunodeficiency disorders v1.11 RASGRP1 Louise Daugherty Added comment: Comment on publications: Added publications suggested by external reviewer to support upgrading of the gene to Green
Primary immunodeficiency disorders v1.11 RASGRP1 Louise Daugherty Publications for gene: RASGRP1 were set to
Primary immunodeficiency disorders v1.10 RASGRP1 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by external reviewer and from publications
Primary immunodeficiency disorders v1.10 RASGRP1 Louise Daugherty Mode of inheritance for gene: RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency disorders v1.9 TNFRSF13B Louise Daugherty edited their review of gene: TNFRSF13B: Added comment: Additional external review this gene was reviewed again. Decided to keep Red on this panel, as we currently do not report contributory variants of a disorder, only causative.; Changed rating: RED
Primary immunodeficiency disorders v1.9 CD247 Louise Daugherty commented on gene: CD247: Additional external review this gene was reviewed again. There are two pathogenic germline variants in Clinvar, the first NM_198053.2(CD247):c.301C>T (p.Gln101Ter) pathogenic variant is the same variant reported in PMID:16672702. However, it is not clear if this is strong enough evidence for three unrelated cases, as there is not a clear indication based on the information supplied to ClinVar wether these are two different cases, or are the same.
To be referred to clinical team again, in view of green review (pers. comm with Zornitza Stark, VCGS) in addition to comment below.
1) NM_198053.2(CD247):c.301C>T (p.Gln101Ter) reported from GeneDx clinical lab, no disorder associated but is the same pathogenic variant as reported in PMID:16672702
2) NM_198053.2(CD247):c.51dup (p.Ile18Aspfs) which is associated to Immunodeficiency due to defect in cd3-zeta reported from Invitae clinical lab
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Classified gene: SMAD4 as Green List (high evidence)
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Gene: smad4 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.143 SMAD4 Louise Daugherty gene: SMAD4 was added
gene: SMAD4 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder
Review for gene: SMAD4 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.142 ENG Louise Daugherty Classified gene: ENG as Green List (high evidence)
Inherited bleeding disorders v1.142 ENG Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.142 ENG Louise Daugherty Gene: eng has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.141 ENG Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green
Inherited bleeding disorders v1.141 ENG Louise Daugherty Publications for gene: ENG were set to 9245986
Genetic Epilepsy Syndromes v0.426 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, 615771
Genetic Epilepsy Syndromes v0.425 TUBB2B Rebecca Foulger Marked gene: TUBB2B as ready
Genetic Epilepsy Syndromes v0.425 TUBB2B Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three variants in unrelated cases (PMIDs:19465910 and 22333901).
Genetic Epilepsy Syndromes v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Genetic Epilepsy Syndromes v0.425 TUBB2B Rebecca Foulger Classified gene: TUBB2B as Green List (high evidence)
Genetic Epilepsy Syndromes v0.425 TUBB2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: >3 patients with heterozygous TUBB2B variants exhibited seizures as part of brain malformation disorder.
Genetic Epilepsy Syndromes v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Genetic Epilepsy Syndromes v0.424 TUBB2B Rebecca Foulger Publications for gene: TUBB2B were set to
Genetic Epilepsy Syndromes v0.423 TUBB2B Rebecca Foulger commented on gene: TUBB2B
Genetic Epilepsy Syndromes v0.423 TUBB2B Rebecca Foulger Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy Syndromes v0.422 TUBB2B Rebecca Foulger Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, 610031
Genetic Epilepsy Syndromes v0.421 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, 615763; infantile-onset epilepsy
Added comment: TUBB2A added to panel based on PMID:24702957 (2014), which describes two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morphology harbouring de novo variants in TUBB2A. A third patient is reported in the large-scale study PMID:25326637 (2014); an infant with DD, seizures, perisylvian polymicrogyria and micropcephaly with a de novo missense variant in TUBB2A.
Sources: Literature
Genetic Epilepsy Syndromes v0.420 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227; 26130693
Genetic Epilepsy Syndromes v0.419 TUBB3 Rebecca Foulger Marked gene: TUBB3 as ready
Genetic Epilepsy Syndromes v0.419 TUBB3 Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three unrelated cases (see PMID:25008804).
Genetic Epilepsy Syndromes v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Genetic Epilepsy Syndromes v0.419 TUBB3 Rebecca Foulger Classified gene: TUBB3 as Green List (high evidence)
Genetic Epilepsy Syndromes v0.419 TUBB3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus at least 3 patients with TUBB3 variants showing seizures.
Genetic Epilepsy Syndromes v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Genetic Epilepsy Syndromes v0.418 TUBB3 Rebecca Foulger commented on gene: TUBB3
Genetic Epilepsy Syndromes v0.418 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227
Inherited bleeding disorders v1.140 ENG Louise Daugherty Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1, 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Bleeding disorder
Inherited bleeding disorders v1.139 ENG Louise Daugherty gene: ENG was added
gene: ENG was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 9245986
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300
Review for gene: ENG was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Genetic Epilepsy Syndromes v0.417 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to
Genetic Epilepsy Syndromes v0.416 TUBB3 Rebecca Foulger Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy Syndromes v0.415 TUBB3 Rebecca Foulger Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, 614039
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Classified gene: ACVRL1 as Green List (high evidence)
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Gene: acvrl1 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.137 ACVRL1 Louise Daugherty Publications for gene: ACVRL1 were set to 29923633; 8640225; 30177223; 16155196; 14684682
Inherited bleeding disorders v1.136 ACVRL1 Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green. More than three unrelated cases in a range of ethnicities has been reported for HHT type 2
Inherited bleeding disorders v1.136 ACVRL1 Louise Daugherty Publications for gene: ACVRL1 were set to 8640225
Early onset dystonia v1.49 HPCA Rebecca Foulger Classified gene: HPCA as Green List (high evidence)
Early onset dystonia v1.49 HPCA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Gene added to panel by Zornitza Stark. 1 Green expert review (by Zornitza) plus 4 unrelated cases in literature supporting variants in HPCA causing AR dystonia. Note that HPCA variants are a rare cause of AR dystonia.
Early onset dystonia v1.49 HPCA Rebecca Foulger Gene: hpca has been classified as Green List (High Evidence).
Early onset dystonia v1.48 HPCA Rebecca Foulger commented on gene: HPCA: Although two independent studies (PMID:27771228 and PMID:27145302) from 2017 and 2016 failed to support the role of HPCA in pathogenesis of dystonia, this is most likely because HPCA variants represent a rare form of dystonia.
Early onset dystonia v1.48 HPCA Rebecca Foulger commented on gene: HPCA: Atasu et al. 2018 (PMID:30145809) revealed two unlreated consanguineous Turkish families with complex dystonia and novel HPCA variants (p.W103* and p.P10PfsTer80). The first family started to suffer involuntary head movements at age 8 months, and official examination at age 20 revealed dystonia. The second family developed dystonia of lower limbs age 17.
Early onset dystonia v1.48 HPCA Rebecca Foulger commented on gene: HPCA: In 3 siblings (age 61, 57 and 51) from consanguineous Sephardic Hewish family with dystonia (MIM:224500) which presented in their first decade, Charlesworth et al, 2015 (PMID:25799108) identified a homozygous missense variant in HPCA (N75K). Sequencing of HPCA in samples from 150 additional patients with early-onset dystonia (<30 years old) identified compound heterozygous missense variants (T71N and A190T) in a 64 year old woman of Sri Lankan origin with the disorder. The woman reported dystonia onset in her late-teens to early twenties. Her unaffected siblings contained one or both wild-type alleles supporting pathogenicity of the compound heterozygous variants in the affected individual.
Early onset dystonia v1.48 HPCA Rebecca Foulger Phenotypes for gene: HPCA were changed from Dystonia 2, torsion, autosomal recessive, MIM#224500 to Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features
Early onset dystonia v1.47 HPCA Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic mode of inheritance supported by literature (PMID:25799108), and OMIM.
Early onset dystonia v1.47 HPCA Rebecca Foulger Mode of inheritance for gene: HPCA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders v1.135 ACVRL1 Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2, 600376 to Telangiectasia, hereditary hemorrhagic, type 2, 600376; Bleeding disorder
Inherited bleeding disorders v1.134 ACVRL1 Louise Daugherty Added comment: Comment on phenotypes: added the OMIM MIMid
Inherited bleeding disorders v1.134 ACVRL1 Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 to Telangiectasia, hereditary hemorrhagic, type 2, 600376
Inherited bleeding disorders v1.133 ACVRL1 Louise Daugherty gene: ACVRL1 was added
gene: ACVRL1 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 8640225
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2
Review for gene: ACVRL1 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.132 SRC Louise Daugherty Classified gene: SRC as Green List (high evidence)
Inherited bleeding disorders v1.132 SRC Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Two cases reported with functional evidence
Inherited bleeding disorders v1.132 SRC Louise Daugherty Gene: src has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.131 SRC Louise Daugherty edited their review of gene: SRC: Added comment: Gain of function reported; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited bleeding disorders v1.131 SRC Louise Daugherty edited their review of gene: SRC: Added comment: From NIHRRD-BR BRIDGE project, report of a second case with de novo variant plus functional data.; Changed rating: GREEN
Inherited bleeding disorders v1.131 SRC Louise Daugherty Phenotypes for gene: SRC were changed from Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937 to Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937; Platelet disorder
Intellectual disability v2.447 CDC42 Louise Daugherty Classified gene: CDC42 as Green List (high evidence)
Intellectual disability v2.447 CDC42 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert review, who notes that there are 17 unrelated individuals with de novo variants in this gene reported in the literature to date, ID is part of the phenotype. There are enough publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.447 CDC42 Louise Daugherty Gene: cdc42 has been classified as Green List (High Evidence).
Intellectual disability v2.446 CDC42 Louise Daugherty Publications for gene: CDC42 were set to 26386261, 26708094, 29394990
Intellectual disability v2.445 CDC42 Louise Daugherty Phenotypes for gene: CDC42 were changed from Takenouchi-Kosaki syndrome to Takenouchi-Kosaki syndrome, 616737; Intellectual disability
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Tag de novo tag was added to gene: CDC42.
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Classified gene: CDC42 as Green List (high evidence)
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence in the literature to support gene-disease association and relevance to this panel to rate this gene Green. At least 17 unrelated individuals with de novo variants have been reported in the literature
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Gene: cdc42 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.129 KLKB1 Louise Daugherty Phenotypes for gene: KLKB1 were changed from Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome; Coagulation disorder
Inherited bleeding disorders v1.128 GBA Louise Daugherty edited their review of gene: GBA: Changed phenotypes: Gaucher disease, Gaucher disease, perinatal lethal, 608013, Gaucher disease, type I, 230800, Gaucher disease, type II,230800, Gaucher disease, type III, 230800, Gaucher disease, type IIIC, 231005, Platelet disorder
Inherited bleeding disorders v1.128 CDC42 Louise Daugherty Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, 616737; Platelet disorder
Inherited bleeding disorders v1.127 CDC42 Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green
Inherited bleeding disorders v1.127 CDC42 Louise Daugherty Publications for gene: CDC42 were set to
Inherited bleeding disorders v1.126 CDC42 Louise Daugherty gene: CDC42 was added
gene: CDC42 was added to Inherited bleeding disorders. Sources: Expert list,Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: CDC42 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list, Literature
Proteinuric renal disease v1.11 CRB2 John Sayer gene: CRB2 was added
gene: CRB2 was added to Proteinuric renal disease. Sources: Literature
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557779; 27942854
Phenotypes for gene: CRB2 were set to steroid resistant nephrotic syndrome
Penetrance for gene: CRB2 were set to Complete
Review for gene: CRB2 was set to GREEN
Added comment: Sources: Literature
Proteinuric renal disease v1.11 EMP2 John Sayer gene: EMP2 was added
gene: EMP2 was added to Proteinuric renal disease. Sources: Literature
Mode of inheritance for gene: EMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMP2 were set to 24814193
Phenotypes for gene: EMP2 were set to steroid sensitive nephrotic syndrome
Penetrance for gene: EMP2 were set to Complete
Review for gene: EMP2 was set to GREEN
Added comment: Sources: Literature
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Classified gene: TTC7A as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.57 TTC7A Eleanor Williams commented on gene: TTC7A
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Classified gene: RFX6 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Gene: rfx6 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.56 RFX6 Eleanor Williams commented on gene: RFX6
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Classified gene: FAM58A as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Gene: fam58a has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.55 FAM58A Eleanor Williams commented on gene: FAM58A: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.55 ZIC3 Eleanor Williams commented on gene: ZIC3: Gene is on expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Classified gene: CASK as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Deleted their comment
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Classified gene: CASK as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Gene: cask has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.53 CASK Eleanor Williams commented on gene: CASK
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Classified gene: MED12 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Added comment: Comment on list classification: Rated gene amber as is on expert list
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Gene: med12 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.52 MED12 Eleanor Williams commented on gene: MED12
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Classified gene: GLI3 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Added comment: Comment on list classification: Rated as Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Gene: gli3 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.51 GLI3 Eleanor Williams commented on gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Classified gene: MNX1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Added comment: Comment on list classification: Rating as Amber as on expert list.
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Gene: mnx1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.50 MNX1 Eleanor Williams commented on gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.50 FANCB Eleanor Williams commented on gene: FANCB: Gene is on expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Classified gene: FOXF1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Added comment: Comment on list classification: Rating Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.49 FOXF1 Eleanor Williams commented on gene: FOXF1: Gene added from expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Added comment: Comment on list classification: Rating amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.48 MYCN Eleanor Williams commented on gene: MYCN
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams commented on gene: FAM58A
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams Tag new-gene-name tag was added to gene: FAM58A.
Non-syndromic familial congenital anorectal malformations v0.48 TTC7A Eleanor Williams Added phenotypes anorectal malformation for gene: TTC7A
Non-syndromic familial congenital anorectal malformations v0.48 RFX6 Eleanor Williams Added phenotypes anorectal malformation for gene: RFX6
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams gene: FAM58A was added
gene: FAM58A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: FAM58A was set to
Phenotypes for gene: FAM58A were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.48 ZIC3 Eleanor Williams Added phenotypes anorectal malformation for gene: ZIC3
Non-syndromic familial congenital anorectal malformations v0.48 CASK Eleanor Williams Added phenotypes anorectal malformation for gene: CASK
Non-syndromic familial congenital anorectal malformations v0.48 MED12 Eleanor Williams Added phenotypes anorectal malformation for gene: MED12
Non-syndromic familial congenital anorectal malformations v0.48 GLI3 Eleanor Williams Added phenotypes anorectal malformation for gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.48 MNX1 Eleanor Williams Added phenotypes anorectal malformation for gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.48 FANCB Eleanor Williams Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations v0.48 FOXF1 Eleanor Williams Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations v0.48 MYCN Eleanor Williams Added phenotypes anorectal malformation for gene: MYCN
Non-syndromic familial congenital anorectal malformations v0.47 TTC7A Eleanor Williams gene: TTC7A was added
gene: TTC7A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: TTC7A was set to
Phenotypes for gene: TTC7A were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 RFX6 Eleanor Williams gene: RFX6 was added
gene: RFX6 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: RFX6 was set to
Phenotypes for gene: RFX6 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 ZIC3 Eleanor Williams Source Expert list was added to ZIC3.
Added phenotypes anorectal malformation for gene: ZIC3
Non-syndromic familial congenital anorectal malformations v0.47 CASK Eleanor Williams gene: CASK was added
gene: CASK was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: CASK was set to
Phenotypes for gene: CASK were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 MED12 Eleanor Williams gene: MED12 was added
gene: MED12 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MED12 was set to
Phenotypes for gene: MED12 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 GLI3 Eleanor Williams gene: GLI3 was added
gene: GLI3 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: GLI3 was set to
Phenotypes for gene: GLI3 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 MNX1 Eleanor Williams gene: MNX1 was added
gene: MNX1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MNX1 was set to
Phenotypes for gene: MNX1 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 FANCB Eleanor Williams Source Expert list was added to FANCB.
Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations v0.47 FOXF1 Eleanor Williams Source Expert list was added to FOXF1.
Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations v0.47 MYCN Eleanor Williams gene: MYCN was added
gene: MYCN was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MYCN was set to
Phenotypes for gene: MYCN were set to anorectal malformation
Congenital hearing impairment (profound/severe) v1.43 FOXI1 Ellen McDonagh commented on gene: FOXI1: A new publication reporting on three families with early-onset sensorineural deafness and distal renal tubular acidosis.
Congenital hearing impairment (profound/severe) v1.43 FOXI1 Ellen McDonagh Publications for gene: FOXI1 were set to PMID:12642503; 15173882; 16932748; 17503324; 7957066; 8825632; 9843211
Congenital hearing impairment (profound/severe) v1.42 FOXI1 Ellen McDonagh Added comment: Comment on mode of inheritance: See PMID: 29242249
Congenital hearing impairment (profound/severe) v1.42 FOXI1 Ellen McDonagh Mode of inheritance for gene: FOXI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Renal tubular acidosis v1.8 XPR1 Ellen McDonagh Classified gene: XPR1 as Red List (low evidence)
Renal tubular acidosis v1.8 XPR1 Ellen McDonagh Added comment: Comment on list classification: Gene added to this panel by a Reviewer. Made red due to this being a novel gene.
Renal tubular acidosis v1.8 XPR1 Ellen McDonagh Gene: xpr1 has been classified as Red List (Low Evidence).
Renal tubular acidosis v1.7 FOXI1 Ellen McDonagh Added comment: Comment on mode of inheritance: Homozygous variants were reported in PMID: 29242249.
Renal tubular acidosis v1.7 FOXI1 Ellen McDonagh Mode of inheritance for gene: FOXI1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal tubular acidosis v1.6 FOXI1 Ellen McDonagh Classified gene: FOXI1 as Amber List (moderate evidence)
Renal tubular acidosis v1.6 FOXI1 Ellen McDonagh Added comment: Comment on list classification: Gene add to the panel by Reviewer due to new publication reporting three families. Promoted to amber, awaiting Genomics England Clinical Team approval before making Green.
Renal tubular acidosis v1.6 FOXI1 Ellen McDonagh Gene: foxi1 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.125 PIGA Louise Daugherty edited their review of gene: PIGA: Changed rating: AMBER
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Classified gene: PIGA as Red List (low evidence)
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Added comment: Comment on list classification: This is a disease modifier gene. Somatic variants cause Paroxysmal nocturnal haemoglobinuria.
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Gene: piga has been classified as Red List (Low Evidence).
Inherited bleeding disorders v1.124 PIGA Louise Daugherty edited their review of gene: PIGA: Changed rating: GREEN
Inherited bleeding disorders v1.124 PIGA Louise Daugherty Classified gene: PIGA as Amber List (moderate evidence)
Inherited bleeding disorders v1.124 PIGA Louise Daugherty Gene: piga has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.123 PIGA Louise Daugherty Publications for gene: PIGA were set to
Inherited bleeding disorders v1.122 PIGA Louise Daugherty Tag treatable tag was added to gene: PIGA.
Tag somatic tag was added to gene: PIGA.
Inherited bleeding disorders v1.122 PIGA Louise Daugherty gene: PIGA was added
gene: PIGA was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Paroxysmal nocturnal haemoglobinuria, somatic, 300818
Review for gene: PIGA was set to AMBER
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.121 GBA Louise Daugherty Classified gene: GBA as Green List (high evidence)
Inherited bleeding disorders v1.121 GBA Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.121 GBA Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.120 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 15813845
Phenotypes for gene: GBA were set to Gaucher disease; Gaucher disease, perinatal lethal, 608013; Gaucher disease, type I, 230800; Gaucher disease, type II,230800; Gaucher disease, type III, 230800; Gaucher disease, type IIIC, 231005
Review for gene: GBA was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Unexplained skeletal dysplasia v1.122 BMP2 Eleanor Williams commented on gene: BMP2: More than 3 families/cases reported in PMID: 29198724 for monoallelic variants in this gene and Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.
Unexplained skeletal dysplasia v1.122 BMP2 Eleanor Williams Publications for gene: BMP2 were set to 19327734; 21357617
Unexplained skeletal dysplasia v1.121 BMP2 Eleanor Williams Classified gene: BMP2 as Green List (high evidence)
Unexplained skeletal dysplasia v1.121 BMP2 Eleanor Williams Added comment: Comment on list classification: Rating green based on publication (PMID: 29198724) reporting sufficient cases associated with a relevant phenotype. Rating has been checked with Genomics England clinical team.
Unexplained skeletal dysplasia v1.121 BMP2 Eleanor Williams Gene: bmp2 has been classified as Green List (High Evidence).
Limb disorders v0.172 BMP2 Eleanor Williams Classified gene: BMP2 as Green List (high evidence)
Limb disorders v0.172 BMP2 Eleanor Williams Added comment: Comment on list classification: Rating as green as publication PMID:29198724 reports sufficient cases associated with a relevant phenotype to reach a green rating for SNVs. The skeletal features include phalangeal anomalies. Rating has been checked with the Genomics England clinical team.
Limb disorders v0.172 BMP2 Eleanor Williams Gene: bmp2 has been classified as Green List (High Evidence).
Limb disorders v0.171 BMP2 Eleanor Williams Tag cnv tag was added to gene: BMP2.
Lymphatic Disorders v1.26 DCHS1 Rebecca Foulger gene: DCHS1 was added
gene: DCHS1 was added to Lymphatic Disorders. Sources: UKGTN
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390
Added comment: Added DCHS1 to panel as requested by Athina Ververi at GOSH, because DCHS1 is on the St. George's lymphoedema 15-gene panel (September 2017). DCHS1 is a ligand for FAT4 (Green gene on this panel), and current evidence appears to be biochemical rather than variant case studies so kept rating as Red.
Sources: UKGTN
Lymphatic Disorders v1.25 PTPN14 Rebecca Foulger Source UKGTN was added to PTPN14.
Lymphatic Disorders v1.24 PTPN14 Rebecca Foulger Tag watchlist tag was added to gene: PTPN14.
Lymphatic Disorders v1.24 ADAMTS3 Rebecca Foulger Source UKGTN was added to ADAMTS3.
Lymphatic Disorders v1.23 ADAMTS3 Rebecca Foulger Classified gene: ADAMTS3 as Red List (low evidence)
Lymphatic Disorders v1.23 ADAMTS3 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red as currently insufficient cases for diagnostic grade (1 family in Brouillard et al. 2017).
Lymphatic Disorders v1.23 ADAMTS3 Rebecca Foulger Gene: adamts3 has been classified as Red List (Low Evidence).
Lymphatic Disorders v1.22 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: Added to panel as requested by Athina Ververi (GOSH) based on presence of ADAMTS3 on the St. George's Primary Lymphedema Disorders 15 Gene Panel.
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Classified gene: KLKB1 as Green List (high evidence)
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Gene: klkb1 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.118 KLKB1 Louise Daugherty gene: KLKB1 was added
gene: KLKB1 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLKB1 were set to 17598838; 14652634; 11344577
Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome
Review for gene: KLKB1 was set to GREEN
gene: KLKB1 was marked as current diagnostic
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Primary immunodeficiency disorders v1.9 NFAT5 Sarah Leigh Tag watchlist tag was added to gene: NFAT5.
Primary immunodeficiency disorders v1.9 NFAT5 Sarah Leigh Classified gene: NFAT5 as Amber List (moderate evidence)
Primary immunodeficiency disorders v1.9 NFAT5 Sarah Leigh Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.117 ORAI1 Louise Daugherty edited their review of gene: ORAI1: Added comment: Green gene for PID/myopathy but not for BPD (ITP in single patient) reported in NIHRRD-BR BRIDGE project; Changed rating: AMBER
Limb disorders v0.171 ZSWIM6 Sarah Leigh Tag missense tag was added to gene: ZSWIM6.
Limb disorders v0.171 ZSWIM6 Sarah Leigh Mode of pathogenicity for gene: ZSWIM6 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Deleted their comment
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Classified gene: TPM4 as Amber List (moderate evidence)
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Amber. This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Gene: tpm4 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.115 TPM4 Louise Daugherty edited their review of gene: TPM4: Added comment: This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.; Changed rating: AMBER
Intracerebral calcification disorders v1.10 SCN2A Anna de Burca gene: SCN2A was added
gene: SCN2A was added to Intracerebral calcification disorders. Sources: Literature
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN2A were set to PMID:24579881
Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3
Review for gene: SCN2A was set to RED
Added comment: Variants in SCN2A are associated with a range of phenotypes from benign infantile seizures to early infantile epileptic encephalopathy. Intracerebral calcification has been noted in one case in the literature (PMID:24579881) and I have encountered a second case in my clinical practice.
Sources: Literature
Intellectual disability v2.444 DCHS1 Rebecca Foulger Source Other was added to DCHS1.
Phenotypes for gene: DCHS1 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; Van Maldergem syndrome 1, 601390
Rare multisystem ciliopathy disorders v1.48 NEK8 Penny Clouston reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 23418306, 26967905, 26697755, 26862157; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lymphatic Disorders v1.22 ADAMTS3 Rebecca Foulger Publications for gene: ADAMTS3 were set to 28985353; 28687807
Lymphatic Disorders v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: Mouse model for role of ADAMTS3 in lymphatic development is reported in PMID:26446156 (2016), with knockout mice exhibiting a massive lymphedema.
Lymphatic Disorders v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: PMID:28687807 (Jha et al., 2017) test a R565Q missense substitution in ADAMTS3 which was originally identified as a rare heterozygous polymoprhism in a lymphedema patient and in 6 unaffected members of the studied family as well as in 236 alleles in ExAC.
Lymphatic Disorders v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3
Lymphatic Disorders v1.21 ADAMTS3 Rebecca Foulger gene: ADAMTS3 was added
gene: ADAMTS3 was added to Lymphatic Disorders. Sources: Other
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 28985353; 28687807
Phenotypes for gene: ADAMTS3 were set to Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome 3
Genetic Epilepsy Syndromes v0.414 ISCA-46290-Gain Louise Daugherty Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194
Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801
Intellectual disability v2.443 ISCA-46290-Gain Louise Daugherty Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194
Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801
Intellectual disability v2.443 ISCA-37431-Gain Louise Daugherty Region: ISCA-37431-Gain was added
Region: ISCA-37431-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37431-Gain were set to 25205021; 22241097; 18183042
Phenotypes for Region: ISCA-37431-Gain were set to early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism; Chromosome 17q11.2 deletion syndrome, 1.4Mb; DD/ID, facial dysmorphisms, and seizures
Familial Tumours Syndromes of the central & peripheral Nervous system v1.8 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Familial Tumours Syndromes of the central & peripheral Nervous system. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
RASopathies v1.27 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to RASopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Neurofibromatosis Type 1 v1.25 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Neurofibromatosis Type 1. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Intellectual disability v2.443 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Lymphatic Disorders v1.20 PTPN14 Rebecca Foulger commented on gene: PTPN14: Bordbar et al (2017, https://www.sciencedirect.com/science/article/pii/S2214540017300543) report an Iranian family with a single child with bilateral choanal atresia and infantile-onset lymphedema. Screening of PTPN14 revealed a novel homozygous frameshift insertion in exon4 (p.(Leu135Tyrfs*5). This forms the second reported family with choanal atresia and lymphedema syndrome.
Lymphatic Disorders v1.20 PTPN14 Rebecca Foulger Publications for gene PTPN14 were changed from 20826270 to 20826270; 24167460
Lymphatic Disorders v1.19 PTPN14 Rebecca Foulger commented on gene: PTPN14
Rare multisystem ciliopathy disorders v1.48 IFT43 Penny Clouston reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 21378380, 28400947, 29896747; Phenotypes: short rib polydactyly, Sensenbrenner syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.48 GLIS2 Penny Clouston reviewed gene: GLIS2: Rating: RED; Mode of pathogenicity: None; Publications: 23559409, 17618285, 26374130; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.442 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability v2.442 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene
Intellectual disability v2.442 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.442 C12orf4 Louise Daugherty Classified gene: C12orf4 as Green List (high evidence)
Intellectual disability v2.442 C12orf4 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 v2.442 C12orf4 Louise Daugherty Gene: c12orf4 has been classified as Green List (High Evidence).
Intellectual disability v2.441 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability v2.441 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene.
Intellectual disability v2.441 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.441 C12orf4 Louise Daugherty Classified gene: C12orf4 as Green List (high evidence)
Intellectual disability v2.441 C12orf4 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 v2.441 C12orf4 Louise Daugherty Gene: c12orf4 has been classified as Green List (High Evidence).
Intellectual disability v2.440 C12orf4 Louise Daugherty Publications for gene: C12orf4 were set to 27311568, 25558065
Intellectual disability v2.439 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from Autosomal recessive intellectual disability; Attention deficit hyperactivity disorder; Muscular hypotonia to Autosomal recessive intellectual disability, Attention deficit hyperactivity disorder, Muscular hypotonia
Intellectual disability v2.439 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from Autosomal recessive intellectual disability to Autosomal recessive intellectual disability; Attention deficit hyperactivity disorder; Muscular hypotonia
Intellectual disability v2.438 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from to Autosomal recessive intellectual disability
Intellectual disability v2.437 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Epileptic encephalopathy, early infantile, 66, 618067; Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebellum to Epileptic encephalopathy, early infantile, 66, 618067
Intellectual disability v2.436 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Intellectual disability v2.435 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.435 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.434 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.434 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.432 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.432 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Genetic Epilepsy Syndromes v0.413 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Genetic Epilepsy Syndromes v0.413 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene (PMID 28867141).
Genetic Epilepsy Syndromes v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Genetic Epilepsy Syndromes v0.413 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Genetic Epilepsy Syndromes v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Genetic Epilepsy Syndromes v0.412 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Genetic Epilepsy Syndromes v0.411 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebrum to Epileptic encephalopathy, early infantile, 66, 618067
Intellectual disability v2.431 BRF1 Louise Daugherty Classified gene: BRF1 as Green List (high evidence)
Intellectual disability v2.431 BRF1 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 v2.431 BRF1 Louise Daugherty Gene: brf1 has been classified as Green List (High Evidence).
Intellectual disability v2.430 BRF1 Louise Daugherty edited their review of gene: BRF1: Added comment: New gene added by external expert review, who notes that there are 3 unrelated individuals reported in the literature, ID is part of the phenotype.; Changed rating: GREEN
Intellectual disability v2.430 BRF1 Louise Daugherty Added comment: Comment on phenotypes: added MIMid form OMIM
Intellectual disability v2.430 BRF1 Louise Daugherty Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome to Cerebellofaciodental syndrome, 616202; intellectual disability
Rare multisystem ciliopathy disorders v1.48 DCDC2 Penny Clouston reviewed gene: DCDC2: Rating: RED; Mode of pathogenicity: None; Publications: 27469900, 27319779, 25557784; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.429 BPTF Louise Daugherty Classified gene: BPTF as Green List (high evidence)
Intellectual disability v2.429 BPTF 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 v2.429 BPTF Louise Daugherty Gene: bptf has been classified as Green List (High Evidence).
Intellectual disability v2.428 BPTF Louise Daugherty edited their review of gene: BPTF: Added comment: New gene added by external expert. From OMIM; Stankiewicz et al. 2017 (PMID: 28942966) reported 10 unrelated patients, ranging from 2 to 13 years of age, with a similar neurodevelopmental disorder. All patients had delayed psychomotor development and intellectual disability with delayed speech.; Changed rating: GREEN
Intellectual disability v2.428 BPTF Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.428 BPTF Louise Daugherty Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755; intellectual disability
Intellectual disability v2.427 BCKDK Louise Daugherty Classified gene: BCKDK as Green List (high evidence)
Intellectual disability v2.427 BCKDK 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 gene Green.
Intellectual disability v2.427 BCKDK Louise Daugherty Gene: bckdk has been classified as Green List (High Evidence).
Intellectual disability v2.426 BCKDK Louise Daugherty edited their review of gene: BCKDK: Added comment: New gene added by external expert review, who notes that there are multiple unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.; Changed rating: GREEN
Intellectual disability v2.426 BCKDK Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIMid from OMIM
Intellectual disability v2.426 BCKDK Louise Daugherty Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923; Intellectual disability
Intellectual disability v2.425 BCKDK Louise Daugherty Publications for gene: BCKDK were set to 22956686, 24449431
Intellectual disability v2.424 ARCN1 Louise Daugherty Classified gene: ARCN1 as Green List (high evidence)
Intellectual disability v2.424 ARCN1 Louise Daugherty Added comment: Comment on list classification: New gene added by External review and reviewed by curation team, enough evidence to support gene-disease association and rating of this gene to Green.
Intellectual disability v2.424 ARCN1 Louise Daugherty Gene: arcn1 has been classified as Green List (High Evidence).
Intellectual disability v2.423 ARCN1 Louise Daugherty edited their review of gene: ARCN1: Added comment: New gene added by external expert review, who notes that there are 3 unrelated families reported in the literature (From OMIM based on report of 4 patients from 3 families- single report PMID:27476655, ID is part of the phenotype. Publication supports gene-disease association and rating of this gene to Green.; Changed rating: GREEN
Intellectual disability v2.423 ARCN1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.423 ARCN1 Louise Daugherty Phenotypes for gene: ARCN1 were changed from Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Intellectual disability v2.422 AP1S1 Louise Daugherty Added comment: Comment on phenotypes: extended phenotype description, added OMIM MIMid
Intellectual disability v2.422 AP1S1 Louise Daugherty Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome to MEDNIK syndrome, 609313; MEDNIK syndrome; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Intellectual disability v2.421 AP1S1 Louise Daugherty Classified gene: AP1S1 as Green List (high evidence)
Intellectual disability v2.421 AP1S1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. Rated green based on external review comment, internal assessment (supportive functional data) and further publications to support gene-disease association.
Intellectual disability v2.421 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Green List (High Evidence).
Intellectual disability v2.420 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Added comment: New gene added by external expert review, who notes French Canadian (founder effect); however, Sephardic Jewish family also reported with a different variant. ID is part of the phenotype, added publication to support gene-disease association.
The patients cases described in the literature to date are likely to be linked to a founder effect. 5 children from 3 families all from Quebec, Canada (with the same mutation) and 1 patient from a consanguineous Sephardic-Jewish background has been described (a different mutation in AP1S1).
However, this gene was rated Green on the Vici Syndrome and other autophagy disorders panel for MEDNIK syndrome after discussion with Emma Baple (South West GMC and Genomics England); as there is a second, independent case with a different variant, plus functional data, so this gene can be green on the ID panel, since intellectual disability is part of the phenotype; Changed rating: GREEN
Intellectual disability v2.420 AP1S1 Louise Daugherty Added comment: Comment on publications: Additional publications to support upgrading of the gene to Green
Intellectual disability v2.420 AP1S1 Louise Daugherty Publications for gene: AP1S1 were set to 23423674
Intellectual disability v2.419 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Intellectual disability v2.419 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.29 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Arthrogryposis v2.29 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.48 TCTEX1D2 Andrea Nemeth reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25830415, 26044572, 28475963; Phenotypes: Jeune asphyxiating thoracic dystrophy, short ribs, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.48 SUFU Andrea Nemeth reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965847; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.48 C21orf2 Andrea Nemeth reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 26167768, 26974433; Phenotypes: Axial Spondylometaphyseal Dysplasia (axial SMD), Jeune Syndrome, Retinal Dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.418 LYST Louise Daugherty Deleted their comment
Pancreatitis v0.18 CFTR Eleanor Williams Phenotypes for gene: CFTR were changed from to {Pancreatitis, hereditary} 167800
Pancreatitis v0.17 CFTR Eleanor Williams Publications for gene: CFTR were set to
Pancreatitis v0.16 CFTR Eleanor Williams Mode of inheritance for gene: CFTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.15 CFTR Eleanor Williams edited their review of gene: CFTR: Changed publications: 9725921, 15987793, 16134171, 16193325, 11729110, 23951356, 22427236, 25033378, 22658665, 26856995, 27555793, 1345141, 15749233, 25033378, 20977904, 22427236; Changed phenotypes: {Pancreatitis, hereditary} 167800; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.15 CFTR Eleanor Williams commented on gene: CFTR: Checking with Genomics England Clinical team as to the correct rating for this gene.
Pancreatitis v0.15 CFTR Eleanor Williams commented on gene: CFTR
Pancreatitis v0.15 CPA1 Eleanor Williams commented on gene: CPA1: Waiting on advice from Genomics England clinical team about the appropriate rating for this gene.
Pancreatitis v0.15 CPA1 Eleanor Williams Phenotypes for gene: CPA1 were changed from to chronic pancreatitis; hereditary chronic pancreatitis
Pancreatitis v0.14 CPA1 Eleanor Williams Added comment: Comment on publications: 28650851 is a review
Pancreatitis v0.14 CPA1 Eleanor Williams Publications for gene: CPA1 were set to
Intellectual disability v2.418 KIF5A Louise Daugherty edited their review of gene: KIF5A: Changed rating: GREEN
Pancreatitis v0.13 CPA1 Eleanor Williams commented on gene: CPA1
Intellectual disability v2.418 KIF5A Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Intellectual disability v2.418 KIF5A Louise Daugherty Publications for gene: KIF5A were set to
Intellectual disability v2.417 KIF5A Louise Daugherty Added comment: Comment on phenotypes: removed Spastic paraplegia 10, autosomal dominant, 604187, this is not a relevant phenotype on this panel.
Intellectual disability v2.417 KIF5A Louise Daugherty Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant, 604187 to Myoclonus, intractable, neonatal, 617235; intellectual disability
Intellectual disability v2.416 KIF5A Louise Daugherty Classified gene: KIF5A as Green List (high evidence)
Intellectual disability v2.416 KIF5A Louise Daugherty Gene: kif5a has been classified as Green List (High Evidence).
Intellectual disability v2.415 KIF5A Louise Daugherty Classified gene: KIF5A as Amber List (moderate evidence)
Intellectual disability v2.415 KIF5A Louise Daugherty Added comment: Comment on list classification: Changed from Red to green, enough evidence to support ID phenotype
Intellectual disability v2.415 KIF5A Louise Daugherty Gene: kif5a has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.414 PIGH Louise Daugherty Classified gene: PIGH as Amber List (moderate evidence)
Intellectual disability v2.414 PIGH Louise Daugherty Added comment: Comment on list classification: Changed from Red to Amber, recent publications support gene-disease association three affecteds (2 unrelated) cases
Intellectual disability v2.414 PIGH Louise Daugherty Gene: pigh has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.413 PIGH Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene
Intellectual disability v2.413 PIGH Louise Daugherty Publications for gene: PIGH were set to 29603516
Intellectual disability v2.412 PIGH Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by external reviewer
Intellectual disability v2.412 PIGH Louise Daugherty Phenotypes for gene: PIGH were changed from hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect, 17; 618010; Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Pancreatitis v0.13 CTRC Eleanor Williams Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to} 167800
Pancreatitis v0.12 CTRC Eleanor Williams Publications for gene: CTRC were set to
Pancreatitis v0.11 CTRC Eleanor Williams Added comment: Comment on mode of inheritance: From OMIM
Pancreatitis v0.11 CTRC Eleanor Williams Mode of inheritance for gene: CTRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.10 CTRC Eleanor Williams Classified gene: CTRC as Green List (high evidence)
Pancreatitis v0.10 CTRC Eleanor Williams Added comment: Comment on list classification: More than 3 cases of plausible disease causing variants found in association with this disorder.
Pancreatitis v0.10 CTRC Eleanor Williams Gene: ctrc has been classified as Green List (High Evidence).
Pancreatitis v0.9 CTRC Eleanor Williams commented on gene: CTRC
Pancreatitis v0.9 PRSS1 Eleanor Williams Tag cnv tag was added to gene: PRSS1.
Pancreatitis v0.9 PRSS1 Eleanor Williams Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary 167800
Pancreatitis v0.8 PRSS1 Eleanor Williams Added comment: Comment on publications: Publications from OMIM
Pancreatitis v0.8 PRSS1 Eleanor Williams Publications for gene: PRSS1 were set to
Pancreatitis v0.7 PRSS1 Eleanor Williams Mode of inheritance for gene: PRSS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.6 PRSS1 Eleanor Williams Classified gene: PRSS1 as Green List (high evidence)
Pancreatitis v0.6 PRSS1 Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases of plausible disease causing variants associated with the disorder.
Pancreatitis v0.6 PRSS1 Eleanor Williams Gene: prss1 has been classified as Green List (High Evidence).
Pancreatitis v0.5 PRSS1 Eleanor Williams reviewed gene: PRSS1: Rating: ; 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.411 ALX4 Louise Daugherty edited their review of gene: ALX4: Added comment: In view of external Green review and after internal review it was decided to keep this gene Amber on the ID panel, as it does not seem to be a consistently predominant feature. ALX4 is noted as having significant findings wrt PMID 29215649 but phenotypically supports inclusion on the craniosynostosis panel, where this gene is rated as Green; Changed rating: AMBER
Unexplained skeletal dysplasia v1.120 CCDC8 Louise Daugherty Classified gene: CCDC8 as Green List (high evidence)
Unexplained skeletal dysplasia v1.120 CCDC8 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Sufficient unrelated cases and more than one causative variant, and variants in this gene are currently reported in an external diagnostic lab
Unexplained skeletal dysplasia v1.120 CCDC8 Louise Daugherty Gene: ccdc8 has been classified as Green List (High Evidence).
Unexplained skeletal dysplasia v1.119 CCDC8 Louise Daugherty Phenotypes for gene: CCDC8 were changed from 3-M syndrome 3 614205 to 3-M syndrome 3, 614205
Haematological malignancies pertinent cancer susceptibility v1.2 RTEL1 Sarah Leigh Mode of inheritance for gene: RTEL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematological malignancies pertinent cancer susceptibility v1.1 RTEL1 Sarah Leigh Deleted their comment
Unexplained skeletal dysplasia v1.118 CCDC8 Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease
Unexplained skeletal dysplasia v1.118 CCDC8 Louise Daugherty Publications for gene: CCDC8 were set to
Intellectual disability v2.411 CCDC8 Louise Daugherty Classified gene: CCDC8 as Red List (low evidence)
Intellectual disability v2.411 CCDC8 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.411 CCDC8 Louise Daugherty Gene: ccdc8 has been classified as Red List (Low Evidence).
Intellectual disability v2.410 CISD2 Louise Daugherty Classified gene: CISD2 as Red List (low evidence)
Intellectual disability v2.410 CISD2 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.410 CISD2 Louise Daugherty Gene: cisd2 has been classified as Red List (Low Evidence).
Intellectual disability v2.409 CISD2 Louise Daugherty reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematological malignancies pertinent cancer susceptibility v1.1 RTEL1 Sarah Leigh Added comment: Comment on mode of inheritance: MOI change suggested by Lara Hawkes (Genomics England Clinical Fellow)
Haematological malignancies pertinent cancer susceptibility v1.1 RTEL1 Sarah Leigh Mode of inheritance for gene: RTEL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.409 EDNRB Louise Daugherty Classified gene: EDNRB as Red List (low evidence)
Intellectual disability v2.409 EDNRB Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.409 EDNRB Louise Daugherty Gene: ednrb has been classified as Red List (Low Evidence).
Intellectual disability v2.408 EDNRB Louise Daugherty edited their review of gene: EDNRB: Changed rating: RED
Intellectual disability v2.408 FGFR1 Louise Daugherty reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pancreatitis v0.5 SPINK1 Eleanor Williams Phenotypes for gene: SPINK1 were changed from to Pancreatitis, hereditary 167800
Pancreatitis v0.4 SPINK1 Eleanor Williams Publications for gene: SPINK1 were set to
Pancreatitis v0.3 SPINK1 Eleanor Williams Added comment: Comment on mode of inheritance: OMIM has Pancreatitis, hereditary as AD inheritance and this appears to be correct for several variants reported.
Pancreatitis v0.3 SPINK1 Eleanor Williams Mode of inheritance for gene: SPINK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.2 SPINK1 Eleanor Williams Classified gene: SPINK1 as Green List (high evidence)
Pancreatitis v0.2 SPINK1 Eleanor Williams Added comment: Comment on list classification: Three cases/families found with different plausible disease causing variants found.
Pancreatitis v0.2 SPINK1 Eleanor Williams Gene: spink1 has been classified as Green List (High Evidence).
Pancreatitis v0.1 SPINK1 Eleanor Williams commented on gene: SPINK1
Intellectual disability v2.408 GBA Louise Daugherty commented on gene: GBA: In view of an external green review, this gene was reviewed again internally and with out internal clinical team. it was decided his gene should remain Amber. It was noted that the commonest type is type 1, where ID is not a clear feature, and that there are sufficient other features to suggest a metabolic / storage dysfunction in all types of Gaucher disease to prompt diagnosis via the undiagnosed metabolic route. So we have decided to leave this gene as amber on ID panel in view of the likely low yield and the complication of the later incidental neurological risks.
Intellectual disability v2.408 ORC1 Louise Daugherty Publications for gene: ORC1 were set to
Intellectual disability v2.407 ORC1 Louise Daugherty Classified gene: ORC1 as Red List (low evidence)
Intellectual disability v2.407 ORC1 Louise Daugherty Added comment: Comment on list classification: Although variants of ORC1 can result in microcephaly phenotype, there is no strong evidence for ID. single patient with ORC1 variants was described in this paper HERE, they had mild intellectual disability.
Intellectual disability v2.407 ORC1 Louise Daugherty Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability v2.406 CDT1 Louise Daugherty Classified gene: CDT1 as Red List (low evidence)
Intellectual disability v2.406 CDT1 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Red
Intellectual disability v2.406 CDT1 Louise Daugherty Gene: cdt1 has been classified as Red List (Low Evidence).
Intellectual disability v2.405 ORC6 Louise Daugherty Classified gene: ORC6 as Amber List (moderate evidence)
Intellectual disability v2.405 ORC6 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Amber. There are some reports of ID but mild ID only.
Intellectual disability v2.405 ORC6 Louise Daugherty Gene: orc6 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.404 ORC4 Louise Daugherty Classified gene: ORC4 as Red List (low evidence)
Intellectual disability v2.404 ORC4 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Red
Intellectual disability v2.404 ORC4 Louise Daugherty Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability v2.403 GSPT2 Louise Daugherty Classified gene: GSPT2 as Red List (low evidence)
Intellectual disability v2.403 GSPT2 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.403 GSPT2 Louise Daugherty Gene: gspt2 has been classified as Red List (Low Evidence).
Clefting v1.29 TGFB2 Anna de Burca gene: TGFB2 was added
gene: TGFB2 was added to Clefting. Sources: Literature
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFB2 were set to 29392890
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome
Review for gene: TGFB2 was set to AMBER
Added comment: Recently described as a cause of Loeys-Dietz syndrome. Only a small number of cases have been described in the literature, but clefting has been a feature in some cases.
Sources: Literature
Clefting v1.28 SMAD2 Anna de Burca gene: SMAD2 was added
gene: SMAD2 was added to Clefting. Sources: Literature
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133; 29392890
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome
Review for gene: SMAD2 was set to AMBER
Added comment: Variants in this gene have recently been associated with Loeys-Dietz syndrome. Since only a small number of cases have been described to date, further work is required to determine whether individuals with variants in SMAD2 commonly present with the craniofacial features associated with this condition.
Sources: Literature
Primary immunodeficiency disorders v1.8 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Intellectual disability v2.402 ISCA-37433-Gain Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
Added phenotypes 608363; Chromosome 22q11.2 microduplication syndrome; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; delayed psychomotor development, growth retardation, and/or hypotonia for Region: ISCA-37433-Gain
Intellectual disability v2.402 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Familial non syndromic congenital heart disease v1.33 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Clefting v1.27 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Primary immunodeficiency disorders v1.8 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Intellectual disability v2.402 ISCA-37446-Gain Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
Added phenotypes intellectual disability and congenital abnormalities,Autism; chromosome 22q11.2 microduplication; 608363; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal for Region: ISCA-37446-Gain
Intellectual disability v2.402 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Familial non syndromic congenital heart disease v1.33 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Clefting v1.27 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Unexplained skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Classified gene: NOTCH1 as Green List (high evidence)
Unexplained skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Added comment: Comment on list classification: Rated as green as there are sufficient number of cases/families and Genomics England clinical team have reviewed as being relevant to this panel.
Unexplained skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Gene: notch1 has been classified as Green List (High Evidence).
Unexplained skeletal dysplasia v1.116 SMOC1 Eleanor Williams Classified gene: SMOC1 as Green List (high evidence)
Unexplained skeletal dysplasia v1.116 SMOC1 Eleanor Williams Added comment: Comment on list classification: Rated green as sufficient number of cases/families. Reviewed by Genomics England clinical team as appropriate for this panel.
Unexplained skeletal dysplasia v1.116 SMOC1 Eleanor Williams Gene: smoc1 has been classified as Green List (High Evidence).
Unexplained skeletal dysplasia v1.115 SMOC1 Eleanor Williams gene: SMOC1 was added
gene: SMOC1 was added to Unexplained skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC1 were set to 21194678; 21194680
Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly
Review for gene: SMOC1 was set to GREEN
Added comment: Sourced from Genetic Home Reference. >3 cases/family reports for homozygous loss of function variants in this gene, in affacted individuals with microphthalmia with limb anomalies (see publications). This is a confirmed DD gene for OPHTHALMOACROMELIC SYNDROME. HPO terms from Gene2Phenotype include
Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Hand oligodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly.
Sources: Expert Review
Unexplained skeletal dysplasia v1.114 NOTCH1 Eleanor Williams gene: NOTCH1 was added
gene: NOTCH1 was added to Unexplained skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 25132448; 25963545; 27077170; 25132448
Phenotypes for gene: NOTCH1 were set to Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); AOS; Limb, scalp and skull defects
Review for gene: NOTCH1 was set to GREEN
Added comment: There are more than three unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome
Sources: Expert Review
Unexplained skeletal dysplasia v1.113 DVL3 Sarah Leigh Publications for gene: DVL3 were set to PMID: 26924530
Unexplained skeletal dysplasia v1.113 DVL3 Sarah Leigh Classified gene: DVL3 as Green List (high evidence)
Unexplained skeletal dysplasia v1.113 DVL3 Sarah Leigh Gene: dvl3 has been classified as Green List (High Evidence).
Unexplained skeletal dysplasia v1.112 DLL4 Sarah Leigh Publications for gene: DLL4 were set to PMID: 26299364
Unexplained skeletal dysplasia v1.111 DLL4 Sarah Leigh Classified gene: DLL4 as Green List (high evidence)
Unexplained skeletal dysplasia v1.111 DLL4 Sarah Leigh Gene: dll4 has been classified as Green List (High Evidence).
Unexplained skeletal dysplasia v1.110 PDE3A Sarah Leigh Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Unexplained skeletal dysplasia v1.110 PDE3A Sarah Leigh Classified gene: PDE3A as Green List (high evidence)
Unexplained skeletal dysplasia v1.110 PDE3A Sarah Leigh Gene: pde3a has been classified as Green List (High Evidence).
Unexplained skeletal dysplasia v1.109 DVL3 Rachel Jones gene: DVL3 was added
gene: DVL3 was added to Unexplained skeletal dysplasia. Sources: Other
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to PMID: 26924530
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3 616894
Penetrance for gene: DVL3 were set to unknown
Review for gene: DVL3 was set to GREEN
Added comment: Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients.

Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome.
Sources: Other
Unexplained skeletal dysplasia v1.108 DLL4 Rachel Jones gene: DLL4 was added
gene: DLL4 was added to Unexplained skeletal dysplasia. Sources: Other
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL4 were set to PMID: 26299364
Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6 616589
Penetrance for gene: DLL4 were set to Incomplete
Review for gene: DLL4 was set to GREEN
Added comment: Meester et al PMID: 26299364 using candidate gene approach identified 9 heterozygous mutations in DLL4 (which is a NOTCH ligand) from 91 families - same pathway as other genes previously idetified to cause Adams Oliver syndrome.

No functional studies were performed, but software predicted pathogenicity of missense mutations.

Evidence of non penetrance in the paper - affected siblings inheriting mutation from seemingly unaffected parent.
Sources: Other
Unexplained skeletal dysplasia v1.107 PDE3A Rachel Jones gene: PDE3A was added
gene: PDE3A was added to Unexplained skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome 112410
Penetrance for gene: PDE3A were set to Complete
Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PDE3A was set to GREEN
Added comment: Mutations appear to be gain of function missense as per PMID 25961942*. 6 missense variants identified in unrelated families with dominant hypertension with brachydactyly (HTNB)
*Article link https://www.nature.com/articles/ng.3302

The article PMID: 9696728 gives more information about the clinical phenotype - their Canadian and American families showed linkage to an area of chromosome 12p containing PDE3A, as had a previous Turkish family.
http://annals.org/aim/fullarticle/711593/families-autosomal-dominant-brachydactyly-type-e-short-stature-severe-hypertension.
Sources: Literature
Intellectual disability v2.401 ISCA-37404-Gain Louise Daugherty Added comment: Comment on phenotypes: minor amendment to type in phenotype
Intellectual disability v2.401 ISCA-37404-Gain Louise Daugherty Phenotypes for Region: ISCA-37404-Gain were changed from chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected
Intellectual disability v2.400 ISCA-37478-Gain Louise Daugherty Haploinsufficiency Score for ISCA-37478-Gain was changed from None to .
Source ClinGen was added to Region: ISCA-37478-Gain.
Primary immunodeficiency disorders v1.7 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Intellectual disability v2.400 ISCA-37433-Gain Louise Daugherty GRCh38 position for ISCA-37433-Gain was changed from 18178958-20324381 to 18924718-20299686.
Intellectual disability v2.400 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Familial non syndromic congenital heart disease v1.32 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Clefting v1.26 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Primary immunodeficiency disorders v1.7 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Intellectual disability v2.400 ISCA-37446-Gain Louise Daugherty GRCh38 position for ISCA-37446-Gain was changed from 18178958-21207225 to 18924718-21111384.
Intellectual disability v2.400 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Familial non syndromic congenital heart disease v1.32 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Clefting v1.26 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Limb disorders v0.170 WDPCP Sarah Leigh Marked gene: WDPCP as ready
Limb disorders v0.170 WDPCP Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in a single case.
Limb disorders v0.170 WDPCP Sarah Leigh Gene: wdpcp has been classified as Red List (Low Evidence).
Limb disorders v0.170 WDPCP Sarah Leigh Publications for gene: WDPCP were set to
Limb disorders v0.169 WDPCP Sarah Leigh Mode of inheritance for gene: WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.168 WDPCP Sarah Leigh Phenotypes for gene: WDPCP were changed from Polydactyly to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Limb disorders v0.167 WDR19 Sarah Leigh Marked gene: WDR19 as ready
Limb disorders v0.167 WDR19 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Two variants reported as compound heterozygotes in affected members of one family with Cranioectodermal dysplasia 4 and one homozygous variant reported in Short-rib thoracic dysplasia 5 without polydactyly 614376, but this phenotype also includes brachydactyly.
Limb disorders v0.167 WDR19 Sarah Leigh Gene: wdr19 has been classified as Red List (Low Evidence).
Limb disorders v0.167 WDR19 Sarah Leigh Mode of inheritance for gene: WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.166 WDR19 Sarah Leigh Added comment: Comment on phenotypes: Variants also reported in Nephronophthisis 13 614377 & Senior-Loken syndrome 8 616307, but these phenotypes are not relevant to the limb disorders panel
Limb disorders v0.166 WDR19 Sarah Leigh Phenotypes for gene: WDR19 were changed from ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Limb disorders v0.165 WDR19 Sarah Leigh Publications for gene: WDR19 were set to
Limb disorders v0.164 WDR19 Sarah Leigh Phenotypes for gene: WDR19 were changed from Polydactyly to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Limb disorders v0.163 WDR34 Sarah Leigh Marked gene: WDR34 as ready
Limb disorders v0.163 WDR34 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Short-rib thoracic dysplasia 11 with or without polydactyly 615633 and severe asphyxiating thoracic dysplasia. Although polydactyly is not commonly recorded in this phenotype, the majority of cases have shorted limbs, such that PMID 24183451 reports 5 variants in 4 unrelated cases with short limbs.
Limb disorders v0.163 WDR34 Sarah Leigh Gene: wdr34 has been classified as Green List (High Evidence).
Limb disorders v0.163 WDR34 Sarah Leigh Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly 615633 to Short-rib thoracic dysplasia 11 with or without polydactyly 615633; severe asphyxiating thoracic dysplasia
Limb disorders v0.162 WDR34 Sarah Leigh Publications for gene: WDR34 were set to
Limb disorders v0.161 WDR34 Sarah Leigh Classified gene: WDR34 as Green List (high evidence)
Limb disorders v0.161 WDR34 Sarah Leigh Gene: wdr34 has been classified as Green List (High Evidence).
Limb disorders v0.160 WDR34 Sarah Leigh Phenotypes for gene: WDR34 were changed from Polydactyly to Short-rib thoracic dysplasia 11 with or without polydactyly 615633
Limb disorders v0.159 WDR34 Sarah Leigh Mode of inheritance for gene: WDR34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.158 WDR35 Sarah Leigh Classified gene: WDR35 as Green List (high evidence)
Limb disorders v0.158 WDR35 Sarah Leigh Gene: wdr35 has been classified as Green List (High Evidence).
Limb disorders v0.157 WDR35 Sarah Leigh Marked gene: WDR35 as ready
Limb disorders v0.157 WDR35 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in Cranioectodermal dysplasia 2 613610 and 7 variants reported in Short-rib thoracic dysplasia 7 with or without polydactyly 614091. Both phenotypes are relevant to this panel, supportive evidence also provided from a mouse model (PMID 21473986).
Limb disorders v0.157 WDR35 Sarah Leigh Gene: wdr35 has been classified as Red List (Low Evidence).
Limb disorders v0.157 WDR35 Sarah Leigh Publications for gene: WDR35 were set to
Limb disorders v0.156 WDR35 Sarah Leigh Phenotypes for gene: WDR35 were changed from Polydactyly to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Limb disorders v0.155 WDR35 Sarah Leigh Mode of inheritance for gene: WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.154 ZSWIM6 Sarah Leigh Classified gene: ZSWIM6 as Amber List (moderate evidence)
Limb disorders v0.154 ZSWIM6 Sarah Leigh Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.153 ZSWIM6 Sarah Leigh commented on gene: ZSWIM6
Limb disorders v0.153 ZSWIM6 Sarah Leigh Tag mosaicism tag was added to gene: ZSWIM6.
Intellectual disability v2.399 ZSWIM6 Sarah Leigh Tag mosaicism tag was added to gene: ZSWIM6.
Limb disorders v0.153 ZSWIM6 Sarah Leigh Publications for gene: ZSWIM6 were set to
Limb disorders v0.152 ZSWIM6 Sarah Leigh Phenotypes for gene: ZSWIM6 were changed from Polydactyly to Acromelic frontonasal dysostosis 603671
Limb disorders v0.151 ZSWIM6 Sarah Leigh Mode of inheritance for gene: ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.150 MIR17HG Eleanor Williams Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2 614326
Limb disorders v0.149 FGF9 Eleanor Williams Added comment: Comment on mode of inheritance: Both cases to date report monoallelic inheritance
Limb disorders v0.149 FGF9 Eleanor Williams Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.148 BMP2 Eleanor Williams Added comment: Comment on publications: Added PMID:29129813 another report from 2018 of a duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2
Limb disorders v0.148 BMP2 Eleanor Williams Publications for gene: BMP2 were set to 19327734; 21357617; 29198724
Limb disorders v0.147 BHLHA9 Eleanor Williams commented on gene: BHLHA9
Limb disorders v0.147 ARHGAP31 Eleanor Williams commented on gene: ARHGAP31: PMID: 21565291 (Southgate et al 2011) report that the two variants found have a gain of function.
Limb disorders v0.147 ARHGAP31 Eleanor Williams commented on gene: ARHGAP31
Limb disorders v0.147 ARHGAP31 Eleanor Williams Publications for gene: ARHGAP31 were set to 21565291
Unexplained skeletal dysplasia v1.106 ARHGAP31 Eleanor Williams Publications for gene: ARHGAP31 were set to 21565291
Unexplained skeletal dysplasia v1.105 ARHGAP31 Eleanor Williams commented on gene: ARHGAP31
Limb disorders v0.146 ZNF141 Eleanor Williams commented on gene: ZNF141
Limb disorders v0.146 SOX9 Eleanor Williams commented on gene: SOX9
Limb disorders v0.146 SLC25A21 Eleanor Williams commented on gene: SLC25A21
Limb disorders v0.146 SHH Eleanor Williams commented on gene: SHH
Limb disorders v0.146 POLL Eleanor Williams commented on gene: POLL: Genomics England clinical team notes - Agree with red rating. Part of the critical region of a duplication identified in split hand/foot malformation; no direct evidence this is the causative gene
Limb disorders v0.146 MIPOL1 Eleanor Williams commented on gene: MIPOL1
Limb disorders v0.146 IQCE Eleanor Williams commented on gene: IQCE
Limb disorders v0.146 GREM1 Eleanor Williams commented on gene: GREM1
Limb disorders v0.146 KIAA0586 Eleanor Williams commented on gene: KIAA0586
Limb disorders v0.146 IFT43 Eleanor Williams commented on gene: IFT43
Limb disorders v0.146 DYNC2H1 Eleanor Williams commented on gene: DYNC2H1
Limb disorders v0.146 TRPV4 Eleanor Williams commented on gene: TRPV4
Limb disorders v0.146 SMOC1 Eleanor Williams commented on gene: SMOC1
Limb disorders v0.146 SLC26A2 Eleanor Williams commented on gene: SLC26A2
Limb disorders v0.146 SFRP4 Eleanor Williams commented on gene: SFRP4
Limb disorders v0.146 PRMT7 Eleanor Williams commented on gene: PRMT7: Genomics England clinical team notes - Not primarily limb phenotype (skeletal dysplasia + ID), on appropriate panels.
Limb disorders v0.146 PRMT7 Eleanor Williams Classified gene: PRMT7 as Amber List (moderate evidence)
Limb disorders v0.146 PRMT7 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.146 PRMT7 Eleanor Williams Gene: prmt7 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.145 PORCN Eleanor Williams commented on gene: PORCN: Genomics England clinical team notes - Not primarily limb (focal dermal hypoplasia/Goltz Gorlin)
Limb disorders v0.145 PORCN Eleanor Williams Classified gene: PORCN as Amber List (moderate evidence)
Limb disorders v0.145 PORCN Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.145 PORCN Eleanor Williams Gene: porcn has been classified as Amber List (Moderate Evidence).
Limb disorders v0.144 PDE3A Eleanor Williams commented on gene: PDE3A
Limb disorders v0.144 NEK1 Eleanor Williams commented on gene: NEK1: Genomics England clinical team notes - Not primarily limb - short rib +/- polydactyly (ciliopathy). On ciliopathy, skeletal dysplasia, clefting and thoracic dystrophies panels already
Limb disorders v0.144 NEK1 Eleanor Williams Classified gene: NEK1 as Amber List (moderate evidence)
Limb disorders v0.144 NEK1 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.144 NEK1 Eleanor Williams Gene: nek1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.143 LRP4 Eleanor Williams commented on gene: LRP4
Limb disorders v0.143 COL2A1 Eleanor Williams commented on gene: COL2A1: Genomics England clinical team notes - Not primarily limb. On clefting, skeletal dysplasia panels.
Limb disorders v0.143 COL2A1 Eleanor Williams Classified gene: COL2A1 as Amber List (moderate evidence)
Limb disorders v0.143 COL2A1 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.143 COL2A1 Eleanor Williams Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.142 CHSY1 Eleanor Williams commented on gene: CHSY1: Genomics England Clinical team notes - Not primarily limb (Temtamy Preaxial brachydactyly syndrome). Already on skeletal dysplasia panel
Limb disorders v0.142 CHSY1 Eleanor Williams Classified gene: CHSY1 as Amber List (moderate evidence)
Limb disorders v0.142 CHSY1 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review from Genomics England clinical team
Limb disorders v0.142 CHSY1 Eleanor Williams Gene: chsy1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.141 ORC1 Eleanor Williams commented on gene: ORC1: Genomics England clinical team notes - Limb not isolated phenotype (Meier-Gorlin), on appropriate panels
Limb disorders v0.141 TRAPPC2 Eleanor Williams commented on gene: TRAPPC2: Genomics England clinical team notes - Presents with short stature (MEDT), on skeletal dysplasia panel
Limb disorders v0.141 TRAPPC2 Eleanor Williams Classified gene: TRAPPC2 as Amber List (moderate evidence)
Limb disorders v0.141 TRAPPC2 Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice from Genomics England clinical team
Limb disorders v0.141 TRAPPC2 Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.140 ORC1 Eleanor Williams Classified gene: ORC1 as Amber List (moderate evidence)
Limb disorders v0.140 ORC1 Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice on Genomics England clinical team. Limb not isolated phenotype (Meier-Gorlin) on appropriate panels
Limb disorders v0.140 ORC1 Eleanor Williams Gene: orc1 has been classified as Amber List (Moderate Evidence).
Renal tubular acidosis v1.5 FOXI1 John Sayer gene: FOXI1 was added
gene: FOXI1 was added to Renal tubular acidosis. Sources: Expert Review,Literature
Mode of inheritance for gene: FOXI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: FOXI1 were set to 29242249
Phenotypes for gene: FOXI1 were set to deafness; renal tubular acidosis
Penetrance for gene: FOXI1 were set to Incomplete
Review for gene: FOXI1 was set to GREEN
Added comment: New gene for RTA and deafness
Sources: Expert Review, Literature
Renal tubular acidosis v1.5 XPR1 John Sayer gene: XPR1 was added
gene: XPR1 was added to Renal tubular acidosis. Sources: Literature,Expert Review
Mode of inheritance for gene: XPR1 was set to Unknown
Publications for gene: XPR1 were set to 27799484
Phenotypes for gene: XPR1 were set to Fanconi syndrome; hypophosphatamia
Penetrance for gene: XPR1 were set to unknown
Mode of pathogenicity for gene: XPR1 was set to Other
Review for gene: XPR1 was set to RED
Added comment: Potential novel gene involved in Renal Fanconi and Renal Tubular Acidosis
Sources: Literature, Expert Review
Intellectual disability v2.399 ISCA-37478-Gain Louise Daugherty GRCh38 position for ISCA-37478-Gain was changed from - to 23513243-28312040.
Haploinsufficiency Score for ISCA-37478-Gain was changed from to None.
Source ClinGen was removed from Region: ISCA-37478-Gain.
Source Other was added to Region: ISCA-37478-Gain.
Unexplained skeletal dysplasia v1.105 ISCA-37418-Loss Louise Daugherty Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities
Unexplained skeletal dysplasia v1.105 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Unexplained skeletal dysplasia v1.105 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Unexplained skeletal dysplasia v1.105 ISCA-37394-Loss Louise Daugherty Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Unexplained skeletal dysplasia v1.105 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Unexplained kidney failure in young people v1.15 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Unexplained kidney failure in young people. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Unexplained kidney failure in young people v1.15 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Unexplained kidney failure in young people. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Undiagnosed metabolic disorders v1.78 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Undiagnosed metabolic disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Significant early-onset obesity +/- other endocrine features and short stature v1.5 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105835
Rare multisystem ciliopathy disorders v1.48 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Rare multisystem ciliopathy disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Rare multisystem ciliopathy disorders v1.48 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Rare multisystem ciliopathy disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Primary Microcephaly - Microcephalic Dwarfism Spectrum v1.37 ISCA-37425-Gain Louise Daugherty Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694
Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
Primary Microcephaly - Microcephalic Dwarfism Spectrum v1.37 ISCA-37390-Loss Louise Daugherty Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506
Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay
Primary Microcephaly - Microcephalic Dwarfism Spectrum v1.37 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Primary Microcephaly - Microcephalic Dwarfism Spectrum v1.37 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Primary immunodeficiency disorders v1.6 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Primary immunodeficiency disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Primary immunodeficiency disorders v1.6 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Primary immunodeficiency disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400
Paediatric motor neuronopathies v1.14 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105833; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Paediatric motor neuronopathies v1.14 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Paediatric motor neuronopathies v1.14 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Ocular coloboma v1.16 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Ocular coloboma. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Neonatal diabetes diagnosed <6 months v1.7 ISCA-37442-Gain Louise Daugherty Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Neonatal diabetes diagnosed <6 months. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 10923638; 8842729; 10615957
Phenotypes for Region: ISCA-37442-Gain were set to 601410; Transient neonatal diabetes mellitus; Transient neonatal diabetes
Neonatal cholestasis v1.2 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Neonatal cholestasis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Mitochondrial disorders v1.68 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Mitochondrial disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Malformations of cortical development v1.152 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Malformations of cortical development. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
IUGR and IGF abnormalities v1.25 ISCA-37397-Loss Louise Daugherty Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to diaphragmatic hernia; mild skeletal abnormalities; uterine didelphys; 611867; DiGeorge syndrome (DGS); clinodactyly; velocardiofacial syndrome; ADHD; Goldenhar syndrome; prematurity; developmental delay; micropephaly; cardiovascular defects; Seizures; global developmental delay; language delay; prenatal and postnatal growth delay; Hyptonia
IUGR and IGF abnormalities v1.25 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
IUGR and IGF abnormalities v1.25 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Intellectual disability v2.398 ISCA-37404-Gain Louise Daugherty Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37404-Gain were set to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected
Intellectual disability v2.398 ISCA-37418-Gain Louise Daugherty Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Gain were set to infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies; 610883; characterized by hypotonia, poor feeding, failure to thrive, developmental delay, mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated
Intellectual disability v2.398 ISCA-37418-Loss Louise Daugherty Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities
Intellectual disability v2.398 ISCA-37421-Gain Louise Daugherty Region: ISCA-37421-Gain was added
Region: ISCA-37421-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37421-Gain were set to 3298277; 3817079
Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome; ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis; 612475; 1q21.1 microduplication syndrome
Intellectual disability v2.398 ISCA-37421-Loss Louise Daugherty Region: ISCA-37421-Loss was added
Region: ISCA-37421-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37421-Loss were set to dysmorphic features; 612474; Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts; mild to moderate developmental delay
Intellectual disability v2.398 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Intellectual disability v2.398 ISCA-37423-Loss Louise Daugherty Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Loss were set to 23239632; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.; congenital heart defects, microcephaly, psychomotor delay and behavioural problems; hyperactivity, craniofacial abnormalities; 8p23.1 microdeletion syndrome; moderate intellectual disability
Intellectual disability v2.398 ISCA-37425-Gain Louise Daugherty Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694
Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
Intellectual disability v2.398 ISCA-37430-Gain Louise Daugherty Region: ISCA-37430-Gain was added
Region: ISCA-37430-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37430-Gain were set to 23813913; 19520700; 19136950
Phenotypes for Region: ISCA-37430-Gain were set to 613215; Chromosome 17p13.3 duplication syndrome; variable psychomotor delay and dysmorphic features; 17q11.2 microduplication syndrome
Intellectual disability v2.398 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
Intellectual disability v2.398 ISCA-37432-Gain Louise Daugherty Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties
Intellectual disability v2.398 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Intellectual disability v2.398 ISCA-37433-Gain Louise Daugherty Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to 17250668; 20301749; 18414210
Phenotypes for Region: ISCA-37433-Gain were set to delayed psychomotor development, growth retardation, and/or hypotonia; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; Chromosome 22q11.2 microduplication syndrome; 608363
Intellectual disability v2.398 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Intellectual disability v2.398 ISCA-37446-Gain Louise Daugherty Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to 23044707; 22970919
Phenotypes for Region: ISCA-37446-Gain were set to chromosome 22q11.2 microduplication; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal; 608363; intellectual disability and congenital abnormalities,Autism
Intellectual disability v2.398 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits
Intellectual disability v2.398 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Intellectual disability v2.398 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Intellectual disability v2.398 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Intellectual disability v2.398 ISCA-37443-Loss Louise Daugherty Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37443-Loss were set to . mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth; 1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425; Chromosome 3q29 microdeletion syndrome
Intellectual disability v2.398 ISCA-37500-Loss Louise Daugherty Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37500-Loss were set to 23166063; 17847001; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to mild to moderate cognitive deficit; Diamond-Blackfan anemia; intellectual disability; 614294; anemia; congenital diaphragmatic hernia; cryptorchidism in males; severe speech and psychomotor delay; mental retardation; postnatal short stature; behavioral problem; mild dysmorphic feature; developmental delay
Intellectual disability v2.398 ISCA-37392-Gain Louise Daugherty Region: ISCA-37392-Gain was added
Region: ISCA-37392-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Gain were set to 26610320
Phenotypes for Region: ISCA-37392-Gain were set to intellectual disability; 609757; behavior problems; abnormal gait and station; cardiovascular disease; phonologic disorders; distinctive facial features; neurologic abnormalities; speech sound disorders
Intellectual disability v2.398 ISCA-37397-Gain Louise Daugherty Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Gain were set to 18414210; 22140377; 19193630
Phenotypes for Region: ISCA-37397-Gain were set to seizures; failure to thrive; ADHD; heart defects; speech disturbances; hypernasal speech; hearing impariment; abnormal behaviour; developmental delay; hypotonia; micro- or macrocephaly
Intellectual disability v2.398 ISCA-37397-Loss Louise Daugherty Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to diaphragmatic hernia; mild skeletal abnormalities; uterine didelphys; 611867; DiGeorge syndrome (DGS); clinodactyly; velocardiofacial syndrome; ADHD; Goldenhar syndrome; prematurity; developmental delay; micropephaly; cardiovascular defects; Seizures; global developmental delay; language delay; prenatal and postnatal growth delay; Hyptonia
Intellectual disability v2.398 ISCA-37400-Gain Louise Daugherty Region: ISCA-37400-Gain was added
Region: ISCA-37400-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881
Phenotypes for Region: ISCA-37400-Gain were set to 614671; intellectual disability; delayed development; autism; specific deficits in speech or language
Intellectual disability v2.398 ISCA-37400-Loss Louise Daugherty Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37400-Loss were set to 21841781; 18184952; 20301775
Phenotypes for Region: ISCA-37400-Loss were set to seizures; intellectual disability; Chiari malformations; cerebellar ectopia; 611913; mental retardation; Macrocephaly; developmental delay; autism spectrum disorder (ASD); vertebral anomalies
Intellectual disability v2.398 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Intellectual disability v2.398 ISCA-37439-Gain Louise Daugherty Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37439-Gain 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 Region: ISCA-37439-Gain were set to 17546640; 20004760; 18047645
Phenotypes for Region: ISCA-37439-Gain were set to 28300815; Chromosome Xq duplication syndrome
Intellectual disability v2.398 ISCA-37390-Loss Louise Daugherty Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506
Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay
Intellectual disability v2.398 ISCA-37394-Loss Louise Daugherty Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Intellectual disability v2.398 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Intellectual disability v2.398 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Intellectual disability v2.398 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Intellectual disability v2.398 ISCA-37411-Loss Louise Daugherty Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37411-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37411-Loss were set to 19289393; 19136953; 18278044
Phenotypes for Region: ISCA-37411-Loss were set to PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems; 612001; PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms; PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Intellectual disability v2.398 ISCA-37415-Gain Louise Daugherty Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Gain were set to 23637818; 24352232; 21614007
Intellectual disability v2.398 ISCA-37415-Loss Louise Daugherty Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141
Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Intellectual disability v2.398 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Intellectual disability v2.398 ISCA-37424-Loss Louise Daugherty Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37424-Loss were set to 25217958; 20345475; 21248748; 24550761
Phenotypes for Region: ISCA-37424-Loss were set to PMID 20345475 macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. PMID: 21248748 developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia; PMID: 25217958 none specified; PMID: 24550761 age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before, phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable
Intellectual disability v2.398 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Hereditary ataxia v1.122 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105831
Hereditary ataxia v1.122 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Genetic Epilepsy Syndromes v0.410 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105832; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Genetic Epilepsy Syndromes v0.410 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Genetic Epilepsy Syndromes v0.410 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37430-Loss were set to 19584063; 1671808; 1879837; 3391613; 12621583; 7634541
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
Genetic Epilepsy Syndromes v0.410 ISCA-37432-Gain Louise Daugherty Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties
Genetic Epilepsy Syndromes v0.410 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Genetic Epilepsy Syndromes v0.410 ISCA-37411-Loss Louise Daugherty Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37411-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37411-Loss were set to 19289393; 19136953; 18278044
Phenotypes for Region: ISCA-37411-Loss were set to PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems; 612001; PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms; PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Genetic Epilepsy Syndromes v0.410 ISCA-37415-Loss Louise Daugherty Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141
Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Genetic Epilepsy Syndromes v0.410 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Familial non syndromic congenital heart disease v1.30 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Familial non syndromic congenital heart disease v1.30 ISCA-37423-Loss Louise Daugherty Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Loss were set to 23239632; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.; congenital heart defects, microcephaly, psychomotor delay and behavioural problems; hyperactivity, craniofacial abnormalities; 8p23.1 microdeletion syndrome; moderate intellectual disability
Familial non syndromic congenital heart disease v1.30 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Familial non syndromic congenital heart disease v1.30 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400
Familial non syndromic congenital heart disease v1.30 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Familial non syndromic congenital heart disease v1.30 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Familial diabetes v1.13 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Familial diabetes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.55 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Diabetes with additional phenotypes suggestive of a monogenic aetiology. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Deafness and congenital structural abnormalities v1.10 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Deafness and congenital structural abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Cystic kidney disease v1.29 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Cystic kidney disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Cystic kidney disease v1.29 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Cystic kidney disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Craniosynostosis syndromes phenotypes v1.39 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Craniosynostosis syndromes phenotypes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Congenital myopathy v1.60 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Congenital myopathy v1.60 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Congenital hypothyroidism or thyroid agenesis v1.2 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105834; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Clefting v1.25 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Clefting v1.25 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Clefting v1.25 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400
Clefting v1.25 ISCA-37467-Gain Louise Daugherty Region: ISCA-37467-Gain was added
Region: ISCA-37467-Gain was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37467-Gain were set to 19291772; 18417549; 18178630
Phenotypes for Region: ISCA-37467-Gain were set to human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype; 174500; Triphalangeal thumbpolysyndactyly syndrome; syndactyly type IV with tibial hypoplasia
Clefting v1.25 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Charcot-Marie-Tooth disease v1.25 ISCA-37436-Gain Louise Daugherty Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to 20301384
Phenotypes for Region: ISCA-37436-Gain were set to 118220; Charcot-Marie-Tooth neuropathy type 1; distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop; hereditary neuropathy
Charcot-Marie-Tooth disease v1.25 ISCA-37436-Loss Louise Daugherty Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to 20301566
Phenotypes for Region: ISCA-37436-Loss were set to 162500; Charcot-Marie-Tooth disease, type 1A; muscle weakness; repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop; Neuropathy, recurrent, with pressure palsies; mild to moderate peripheral neuropathy
CAKUT v1.25 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to CAKUT. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Autosomal recessive congenital ichthyosis v1.7 ISCA-37417-Loss Louise Daugherty Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Autosomal recessive congenital ichthyosis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked; 308100
Unexplained kidney failure in young people v1.15 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Unexplained kidney failure in young people. 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
Significant early-onset obesity +/- other endocrine features and short stature v1.5 ISCA-37486-Loss Louise Daugherty Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231
Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity
Significant early-onset obesity +/- other endocrine features and short stature v1.5 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Paediatric motor neuronopathies v1.14 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Paediatric motor neuronopathies v1.14 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Paediatric congenital malformation-dysmorphism-tumour syndromes v1.19 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Paediatric congenital malformation-dysmorphism-tumour syndromes. 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
IUGR and IGF abnormalities v1.25 ISCA-37392-Loss Louise Daugherty Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome
IUGR and IGF abnormalities v1.25 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Intellectual disability v2.398 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Intellectual disability v2.398 ISCA-37425-Loss Louise Daugherty Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Intellectual disability v2.398 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements
Intellectual disability v2.398 ISCA-37486-Loss Louise Daugherty Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231
Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity
Intellectual disability v2.398 ISCA-37493-Loss Louise Daugherty Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713
Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum
Intellectual disability v2.398 ISCA-46295-Loss Louise Daugherty Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350
Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy
Intellectual disability v2.398 ISCA-37392-Loss Louise Daugherty Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome
Intellectual disability v2.398 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Intellectual disability. 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
Intellectual disability v2.398 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Intellectual disability v2.398 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Hereditary ataxia v1.122 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Genetic Epilepsy Syndromes v0.410 ISCA-37493-Loss Louise Daugherty Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713
Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum
Genetic Epilepsy Syndromes v0.410 ISCA-46295-Loss Louise Daugherty Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350
Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy
Genetic Epilepsy Syndromes v0.410 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Genetic Epilepsy Syndromes v0.410 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Familial non syndromic congenital heart disease v1.30 ISCA-37392-Loss Louise Daugherty Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome
Disorders of sex development v1.24 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Disorders of sex development. 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
Congenital myopathy v1.60 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Congenital hypothyroidism or thyroid agenesis v1.2 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Brain channelopathy v1.31 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Brain channelopathy. Sources: ClinGen,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 episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.42 ISCA-37425-Loss Louise Daugherty Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Adult solid tumours for rare disease v1.20 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Adult solid tumours for rare disease. 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
Testicular cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Lung cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Upper gastrointestinal cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Thyroid cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Sarcoma pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Renal cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Prostate cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Ovarian cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Neuroendocrine cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Melanoma pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Head and neck cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Haematological malignancies pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Endometrial cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Colorectal cancer pertinent cancer susceptibility v2.0 Louise Daugherty promoted panel to version 2.0
Colorectal cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Childhood solid tumours pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Breast cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Bladder cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Brain cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Adult solid tumours pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Inherited white matter disorders ATP7A Zornitza Stark Added gene to panel
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams classified FANCB as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams classified ZIC3 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh marked gene: TUBG1 as ready
Genetic Epilepsy Syndromes TUBG1 Sarah Leigh marked gene: TUBG1 as ready
Genetic Epilepsy Syndromes TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Genetic Epilepsy Syndromes TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Genetic Epilepsy Syndromes UBA5 Sarah Leigh marked gene: UBA5 as ready
Genetic Epilepsy Syndromes GTPBP2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GTPBP2 Konstantinos Varvagiannis Added gene to panel
Rare multisystem ciliopathy disorders GLIS2 Andrea Nemeth reviewed gene: GLIS2
Rare multisystem ciliopathy disorders EXOC3L2 Andrea Nemeth reviewed gene: EXOC3L2
Rare multisystem ciliopathy disorders GLI3 Andrea Nemeth reviewed gene: GLI3
Rare multisystem ciliopathy disorders DCDC2 Andrea Nemeth reviewed gene: DCDC2
Genetic Epilepsy Syndromes IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Intellectual disability IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Genetic Epilepsy Syndromes UNC80 Sarah Leigh marked gene: UNC80 as ready
Genetic Epilepsy Syndromes UNC80 Sarah Leigh classified UNC80 as Green List (high evidence)
Genetic Epilepsy Syndromes VLDLR Sarah Leigh classified VLDLR as Amber List (moderate evidence)
Genetic Epilepsy Syndromes VLDLR Sarah Leigh classified VLDLR as Red List (low evidence)
Genetic Epilepsy Syndromes WDR62 Sarah Leigh marked gene: WDR62 as ready
Genetic Epilepsy Syndromes WDR62 Sarah Leigh classified WDR62 as Green List (high evidence)
Genetic Epilepsy Syndromes WDR73 Sarah Leigh marked gene: WDR73 as ready
Genetic Epilepsy Syndromes WDR73 Sarah Leigh classified WDR73 as Green List (high evidence)
Genetic Epilepsy Syndromes YWHAG Sarah Leigh marked gene: YWHAG as ready
Genetic Epilepsy Syndromes YWHAG Sarah Leigh classified YWHAG as Green List (high evidence)
Genetic Epilepsy Syndromes ZBTB18 Sarah Leigh marked gene: ZBTB18 as ready
Genetic Epilepsy Syndromes ZBTB18 Sarah Leigh classified ZBTB18 as Green List (high evidence)
Genetic Epilepsy Syndromes CAMK2G Sarah Leigh marked gene: CAMK2G as ready
Genetic Epilepsy Syndromes CAMK2G Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes DEAF1 Sarah Leigh marked gene: DEAF1 as ready
Genetic Epilepsy Syndromes DEAF1 Sarah Leigh classified DEAF1 as Green List (high evidence)
Genetic Epilepsy Syndromes DEAF1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes SLC1A4 Zornitza Stark Added gene to panel
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Genetic Epilepsy Syndromes NEDD4L Sarah Leigh marked gene: NEDD4L as ready
Genetic Epilepsy Syndromes NRXN1 Sarah Leigh marked gene: NRXN1 as ready
Genetic Epilepsy Syndromes NRXN1 Sarah Leigh classified NRXN1 as Green List (high evidence)
Genetic Epilepsy Syndromes FLNA Sarah Leigh marked gene: FLNA as ready
Genetic Epilepsy Syndromes FLNA Sarah Leigh classified FLNA as Green List (high evidence)
Genetic Epilepsy Syndromes KCNA1 Sarah Leigh marked gene: KCNA1 as ready
Genetic Epilepsy Syndromes KCNA1 Sarah Leigh classified KCNA1 as Green List (high evidence)
Genetic Epilepsy Syndromes EEF1A2 Sarah Leigh marked gene: EEF1A2 as ready
Genetic Epilepsy Syndromes EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Genetic Epilepsy Syndromes EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Neonatal cholestasis Sarah Leigh promoted panel to version 1.0
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Neonatal cholestasis ATP7B Sarah Leigh marked gene: ATP7B as ready
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Green List (high evidence)
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Pulmonary arterial hypertension ATP13A3 Louise Daugherty classified ATP13A3 as Green List (high evidence)
Pulmonary arterial hypertension ATP13A3 Louise Daugherty edited their review of gene: ATP13A3
Pulmonary arterial hypertension GDF2 Louise Daugherty edited their review of gene: GDF2
Pulmonary arterial hypertension GDF2 Louise Daugherty classified GDF2 as Green List (high evidence)
Pulmonary arterial hypertension SOX17 Louise Daugherty edited their review of gene: SOX17
Pulmonary arterial hypertension SOX17 Louise Daugherty classified SOX17 as Green List (high evidence)
Genetic Epilepsy Syndromes IRF2BPL Zornitza Stark edited their review of gene: IRF2BPL
Rare multisystem ciliopathy disorders CEP120 Anna de Burca marked gene: CEP120 as ready
Rare multisystem ciliopathy disorders CEP120 Anna de Burca classified CEP120 as Green List (high evidence)
Rare multisystem ciliopathy disorders CEP120 Anna de Burca classified CEP120 as Green List (high evidence)
Intellectual disability PIGH Zornitza Stark reviewed gene: PIGH
Genetic Epilepsy Syndromes PIGH Zornitza Stark reviewed gene: PIGH
Mitochondrial disorders WARS2 Zornitza Stark reviewed gene: WARS2
Mitochondrial disorders VPS13C Zornitza Stark reviewed gene: VPS13C
Mitochondrial disorders UQCRC2 Zornitza Stark reviewed gene: UQCRC2
Mitochondrial disorders UQCC2 Zornitza Stark reviewed gene: UQCC2
Mitochondrial disorders TUFM Zornitza Stark reviewed gene: TUFM
Mitochondrial disorders TRMT5 Zornitza Stark reviewed gene: TRMT5
Mitochondrial disorders TRIT1 Zornitza Stark reviewed gene: TRIT1
Mitochondrial disorders TMEM126B Zornitza Stark reviewed gene: TMEM126B
Mitochondrial disorders TIMM50 Zornitza Stark Added gene to panel
Mitochondrial disorders STAT2 Zornitza Stark reviewed gene: STAT2
Mitochondrial disorders SLC25A42 Zornitza Stark reviewed gene: SLC25A42
Mitochondrial disorders SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Mitochondrial disorders SLC25A1 Zornitza Stark reviewed gene: SLC25A1
Mitochondrial disorders SDHAF2 Zornitza Stark reviewed gene: SDHAF2
Mitochondrial disorders SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Mitochondrial disorders RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1
Mitochondrial disorders QRSL1 Zornitza Stark reviewed gene: QRSL1
Mitochondrial disorders QARS Zornitza Stark reviewed gene: QARS
Mitochondrial disorders PUS1 Zornitza Stark reviewed gene: PUS1
Mitochondrial disorders PNPLA8 Zornitza Stark reviewed gene: PNPLA8
Early onset dystonia HPCA Zornitza Stark Added gene to panel
Mitochondrial disorders PNPLA4 Zornitza Stark reviewed gene: PNPLA4
Mitochondrial disorders PDK3 Zornitza Stark reviewed gene: PDK3
Mitochondrial disorders PARS2 Zornitza Stark reviewed gene: PARS2
Mitochondrial disorders NFS1 Zornitza Stark reviewed gene: NFS1
Mitochondrial disorders NDUFA9 Zornitza Stark reviewed gene: NDUFA9
Mitochondrial disorders NDUFA4 Zornitza Stark reviewed gene: NDUFA4
Mitochondrial disorders NAXE Zornitza Stark reviewed gene: NAXE
Mitochondrial disorders MTFMT Zornitza Stark reviewed gene: MTFMT
Mitochondrial disorders MRPS34 Zornitza Stark Added gene to panel
Mitochondrial disorders MRPS16 Zornitza Stark reviewed gene: MRPS16
Mitochondrial disorders MRPL44 Zornitza Stark reviewed gene: MRPL44
Mitochondrial disorders MRPL40 Zornitza Stark reviewed gene: MRPL40
Mitochondrial disorders MRPL3 Zornitza Stark reviewed gene: MRPL3
Mitochondrial disorders MRPL12 Zornitza Stark reviewed gene: MRPL12
Mitochondrial disorders MPC1 Zornitza Stark reviewed gene: MPC1
Mitochondrial disorders MICU1 Zornitza Stark reviewed gene: MICU1
Mitochondrial disorders MECR Zornitza Stark reviewed gene: MECR
Mitochondrial disorders LYRM7 Zornitza Stark reviewed gene: LYRM7
Mitochondrial disorders LIPT2 Zornitza Stark reviewed gene: LIPT2
Mitochondrial disorders LETM1 Zornitza Stark reviewed gene: LETM1
Mitochondrial disorders ISCU Zornitza Stark reviewed gene: ISCU
Mitochondrial disorders ISCA2 Zornitza Stark reviewed gene: ISCA2
Mitochondrial disorders IER3IP1 Zornitza Stark reviewed gene: IER3IP1
Mitochondrial disorders IDH3B Zornitza Stark reviewed gene: IDH3B
Mitochondrial disorders IARS2 Zornitza Stark reviewed gene: IARS2
Mitochondrial disorders HSD17B10 Zornitza Stark reviewed gene: HSD17B10
Mitochondrial disorders HARS2 Zornitza Stark reviewed gene: HARS2
Mitochondrial disorders GFM2 Zornitza Stark reviewed gene: GFM2
Intellectual disability IGF1R Louise Daugherty classified IGF1R as Green List (high evidence)
Intellectual disability NRXN2 Louise Daugherty classified NRXN2 as Amber List (moderate evidence)
Intellectual disability NRXN2 Louise Daugherty commented on gene: NRXN2
Clefting TGFBR2 Louise Daugherty classified TGFBR2 as Green List (high evidence)
Neonatal cholestasis TALDO1 Anna de Burca classified TALDO1 as Green List (high evidence)
Neonatal cholestasis TALDO1 Anna de Burca classified TALDO1 as Green List (high evidence)
Mitochondrial disorders FXN Zornitza Stark reviewed gene: FXN
Mitochondrial disorders FDXR Zornitza Stark Added gene to panel
Mitochondrial disorders FDX2 Zornitza Stark reviewed gene: FDX2
Mitochondrial disorders DHTKD1 Zornitza Stark reviewed gene: DHTKD1
Mitochondrial disorders DARS Zornitza Stark reviewed gene: DARS
Mitochondrial disorders CYCS Zornitza Stark reviewed gene: CYCS
Mitochondrial disorders CHKB Zornitza Stark reviewed gene: CHKB
Neonatal cholestasis ATP7B Sarah Leigh edited their review of gene: ATP7B
Neonatal cholestasis PEX7 Sarah Leigh commented on gene: PEX7
Neonatal cholestasis HFE Sarah Leigh commented on gene: HFE
Primary Microcephaly - Microcephalic Dwarfism Spectrum RMI1 Sarah Leigh classified RMI1 as Amber List (moderate evidence)
Primary Microcephaly - Microcephalic Dwarfism Spectrum RMI1 Sarah Leigh Added gene to panel
Primary Microcephaly - Microcephalic Dwarfism Spectrum TOP3A Sarah Leigh classified TOP3A as Green List (high evidence)
Primary Microcephaly - Microcephalic Dwarfism Spectrum TOP3A Sarah Leigh Added gene to panel
Mitochondrial disorders VPS13C Sarah Leigh Added gene to panel
Mitochondrial disorders SLC25A42 Sarah Leigh Added gene to panel
Mitochondrial disorders RTN4IP1 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA8 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA4 Sarah Leigh Added gene to panel
Mitochondrial disorders NAXE Sarah Leigh Added gene to panel
Mitochondrial disorders MICU1 Sarah Leigh Added gene to panel
Mitochondrial disorders MECR Sarah Leigh Added gene to panel
Mitochondrial disorders IDH3B Sarah Leigh Added gene to panel
Mitochondrial disorders HSD17B10 Sarah Leigh Added gene to panel
Mitochondrial disorders ERCC6L2 Sarah Leigh Added gene to panel
Mitochondrial disorders DTD1 Sarah Leigh Added gene to panel
Mitochondrial disorders CARS2 Zornitza Stark reviewed gene: CARS2
Mitochondrial disorders C1QBP Zornitza Stark Added gene to panel
Mitochondrial disorders C19orf12 Zornitza Stark reviewed gene: C19orf12
Mitochondrial disorders BTD Zornitza Stark reviewed gene: BTD
Mitochondrial disorders APTX Zornitza Stark reviewed gene: APTX
Mitochondrial disorders ANO10 Zornitza Stark reviewed gene: ANO10
Intellectual disability BCL11B Konstantinos Varvagiannis Added gene to panel
Haematological malignancies pertinent cancer susceptibility RAD51C Ellen McDonagh classified RAD51C as Amber List (moderate evidence)
Adult solid tumours for rare disease ATM Helen Brittain reviewed gene: ATM
Adult solid tumours for rare disease CHEK2 Helen Brittain classified CHEK2 as Amber List (moderate evidence)
Adult solid tumours for rare disease CHEK2 Helen Brittain reviewed gene: CHEK2
Non-syndromic familial congenital anorectal malformations CDX2 Eleanor Williams Added gene to panel
Primary immunodeficiency disorders RASGRP1 Zornitza Stark reviewed gene: RASGRP1
Gastrointestinal epithelial barrier disorders EPCAM Olivia Niblock classified EPCAM as Green List (high evidence)
Genetic Epilepsy Syndromes ZBTB18 Zornitza Stark reviewed gene: ZBTB18
Genetic Epilepsy Syndromes YWHAG Zornitza Stark reviewed gene: YWHAG
Genetic Epilepsy Syndromes WDR73 Zornitza Stark reviewed gene: WDR73
Genetic Epilepsy Syndromes WDR62 Zornitza Stark reviewed gene: WDR62
Genetic Epilepsy Syndromes VLDLR Zornitza Stark reviewed gene: VLDLR
Genetic Epilepsy Syndromes UNC80 Zornitza Stark reviewed gene: UNC80
Genetic Epilepsy Syndromes UBA5 Zornitza Stark reviewed gene: UBA5
Genetic Epilepsy Syndromes TUBG1 Zornitza Stark reviewed gene: TUBG1
Genetic Epilepsy Syndromes TUBB4A Zornitza Stark reviewed gene: TUBB4A
Haematological malignancies for rare disease Ellen McDonagh promoted panel to version 1.0
Haematological malignancies for rare disease RAD51C Ellen McDonagh classified RAD51C as Amber List (moderate evidence)
Genetic Epilepsy Syndromes TUBB3 Zornitza Stark reviewed gene: TUBB3
Genetic Epilepsy Syndromes TUBB2B Zornitza Stark reviewed gene: TUBB2B
Genetic Epilepsy Syndromes TUBB Zornitza Stark reviewed gene: TUBB
Genetic Epilepsy Syndromes TUBA8 Zornitza Stark reviewed gene: TUBA8
Genetic Epilepsy Syndromes TUBA1A Zornitza Stark reviewed gene: TUBA1A
Genetic Epilepsy Syndromes TSFM Zornitza Stark reviewed gene: TSFM
Genetic Epilepsy Syndromes TSEN54 Zornitza Stark reviewed gene: TSEN54
Genetic Epilepsy Syndromes TSEN34 Zornitza Stark reviewed gene: TSEN34
Genetic Epilepsy Syndromes TSEN2 Zornitza Stark reviewed gene: TSEN2
Genetic Epilepsy Syndromes TSEN15 Zornitza Stark reviewed gene: TSEN15
Genetic Epilepsy Syndromes TSC1 Zornitza Stark reviewed gene: TSC1
Genetic Epilepsy Syndromes TRIP13 Zornitza Stark reviewed gene: TRIP13
Genetic Epilepsy Syndromes TRIM8 Zornitza Stark reviewed gene: TRIM8
Genetic Epilepsy Syndromes TREX1 Zornitza Stark reviewed gene: TREX1
Genetic Epilepsy Syndromes TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B
Genetic Epilepsy Syndromes TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12
Genetic Epilepsy Syndromes TNK2 Zornitza Stark reviewed gene: TNK2
Genetic Epilepsy Syndromes TNK2 Zornitza Stark reviewed gene: TNK2
Genetic Epilepsy Syndromes TMEM70 Zornitza Stark reviewed gene: TMEM70
Genetic Epilepsy Syndromes TIMM50 Zornitza Stark reviewed gene: TIMM50
Genetic Epilepsy Syndromes TFE3 Zornitza Stark reviewed gene: TFE3
Genetic Epilepsy Syndromes TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1
Genetic Epilepsy Syndromes TBCK Zornitza Stark reviewed gene: TBCK
Genetic Epilepsy Syndromes TBCD Zornitza Stark reviewed gene: TBCD
Genetic Epilepsy Syndromes TBC1D20 Zornitza Stark reviewed gene: TBC1D20
Genetic Epilepsy Syndromes SURF1 Zornitza Stark reviewed gene: SURF1
Genetic Epilepsy Syndromes SUCLG1 Zornitza Stark reviewed gene: SUCLG1
Genetic Epilepsy Syndromes SUCLA2 Zornitza Stark reviewed gene: SUCLA2
Genetic Epilepsy Syndromes STAMBP Zornitza Stark reviewed gene: STAMBP
Genetic Epilepsy Syndromes STAG1 Zornitza Stark reviewed gene: STAG1
Genetic Epilepsy Syndromes ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5
Genetic Epilepsy Syndromes ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3
Genetic Epilepsy Syndromes SPR Zornitza Stark reviewed gene: SPR
Genetic Epilepsy Syndromes SNORD118 Zornitza Stark reviewed gene: SNORD118
Non-syndromic familial congenital anorectal malformations EBF2 Eleanor Williams Added gene to panel
Neonatal cholestasis ABCD3 Sarah Leigh marked gene: ABCD3 as ready
Neonatal cholestasis ABCD3 Sarah Leigh Added gene to panel
Neonatal cholestasis SLC40A1 Sarah Leigh marked gene: SLC40A1 as ready
Neonatal cholestasis SLC30A10 Sarah Leigh marked gene: SLC30A10 as ready
Genetic Epilepsy Syndromes SMS Zornitza Stark reviewed gene: SMS
Genetic Epilepsy Syndromes SMC1A Zornitza Stark reviewed gene: SMC1A
Genetic Epilepsy Syndromes SMC1A Zornitza Stark reviewed gene: SMC1A
Genetic Epilepsy Syndromes SLC6A8 Zornitza Stark reviewed gene: SLC6A8
Neonatal cholestasis SLC27A5 Sarah Leigh marked gene: SLC27A5 as ready
Genetic Epilepsy Syndromes SLC6A5 Zornitza Stark reviewed gene: SLC6A5
Neonatal cholestasis SLC10A2 Sarah Leigh marked gene: SLC10A2 as ready
Genetic Epilepsy Syndromes SLC45A1 Zornitza Stark reviewed gene: SLC45A1
Neonatal cholestasis SMPD1 Sarah Leigh marked gene: SMPD1 as ready
Genetic Epilepsy Syndromes SLC35A1 Zornitza Stark reviewed gene: SLC35A1
Neonatal cholestasis SMPD1 Sarah Leigh classified SMPD1 as Green List (high evidence)
Genetic Epilepsy Syndromes SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Genetic Epilepsy Syndromes SIX3 Zornitza Stark reviewed gene: SIX3
Genetic Epilepsy Syndromes SHH Zornitza Stark reviewed gene: SHH
Genetic Epilepsy Syndromes SETD1B Zornitza Stark reviewed gene: SETD1B
Genetic Epilepsy Syndromes SETBP1 Zornitza Stark reviewed gene: SETBP1
Neonatal cholestasis TMEM216 Sarah Leigh marked gene: TMEM216 as ready
Genetic Epilepsy Syndromes SEPSECS Zornitza Stark reviewed gene: SEPSECS
Neonatal cholestasis TFR2 Sarah Leigh marked gene: TFR2 as ready
Neonatal cholestasis UTP4 Sarah Leigh marked gene: UTP4 as ready
Genetic Epilepsy Syndromes SDHA Zornitza Stark reviewed gene: SDHA
Genetic Epilepsy Syndromes SCO2 Zornitza Stark reviewed gene: SCO2
Genetic Epilepsy Syndromes SCO1 Zornitza Stark reviewed gene: SCO1
Thyroid cancer pertinent cancer susceptibility WRN Ellen McDonagh commented on gene: WRN
Sarcoma pertinent cancer susceptibility T Ellen McDonagh commented on gene: T
Sarcoma pertinent cancer susceptibility SQSTM1 Ellen McDonagh commented on gene: SQSTM1
Sarcoma pertinent cancer susceptibility RECQL4 Ellen McDonagh commented on gene: RECQL4
Sarcoma pertinent cancer susceptibility PDGFRA Ellen McDonagh commented on gene: PDGFRA
Sarcoma pertinent cancer susceptibility MTAP Ellen McDonagh commented on gene: MTAP
Renal cancer pertinent cancer susceptibility PMS2 Ellen McDonagh commented on gene: PMS2
Renal cancer pertinent cancer susceptibility MSH6 Ellen McDonagh commented on gene: MSH6
Renal cancer pertinent cancer susceptibility MSH2 Ellen McDonagh commented on gene: MSH2
Renal cancer pertinent cancer susceptibility MLH1 Ellen McDonagh commented on gene: MLH1
Prostate cancer pertinent cancer susceptibility PMS2 Ellen McDonagh commented on gene: PMS2
Prostate cancer pertinent cancer susceptibility MSH6 Ellen McDonagh commented on gene: MSH6
Prostate cancer pertinent cancer susceptibility MSH2 Ellen McDonagh commented on gene: MSH2
Prostate cancer pertinent cancer susceptibility MLH1 Ellen McDonagh commented on gene: MLH1
Haematological malignancies pertinent cancer susceptibility RMRP Ellen McDonagh commented on gene: RMRP
Head and neck cancer pertinent cancer susceptibility SLX4 Ellen McDonagh classified SLX4 as Green List (high evidence)
Head and neck cancer pertinent cancer susceptibility SLX4 Ellen McDonagh Added gene to panel
Haematological malignancies pertinent cancer susceptibility RAD51C Ellen McDonagh commented on gene: RAD51C
Genetic Epilepsy Syndromes SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Genetic Epilepsy Syndromes RUSC2 Zornitza Stark reviewed gene: RUSC2
Genetic Epilepsy Syndromes RTTN Zornitza Stark reviewed gene: RTTN
Genetic Epilepsy Syndromes RRM2B Zornitza Stark reviewed gene: RRM2B
Genetic Epilepsy Syndromes RORB Zornitza Stark reviewed gene: RORB
Adult solid tumours pertinent cancer susceptibility CHEK2 Ellen McDonagh classified CHEK2 as Amber List (moderate evidence)
Adult solid tumours pertinent cancer susceptibility CDKN1B Ellen McDonagh commented on gene: CDKN1B
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Green List (high evidence)
Adult solid tumours for rare disease CDKN1B Ellen McDonagh commented on gene: CDKN1B
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Red List (low evidence)
Genetic Epilepsy Syndromes RORA Zornitza Stark reviewed gene: RORA
Genetic Epilepsy Syndromes ROGDI Zornitza Stark reviewed gene: ROGDI
Genetic Epilepsy Syndromes RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC
Genetic Epilepsy Syndromes RNASET2 Zornitza Stark reviewed gene: RNASET2
Genetic Epilepsy Syndromes RNASEH2C Zornitza Stark reviewed gene: RNASEH2C
Genetic Epilepsy Syndromes RNASEH2B Zornitza Stark reviewed gene: RNASEH2B
Genetic Epilepsy Syndromes RNASEH2A Zornitza Stark reviewed gene: RNASEH2A
Genetic Epilepsy Syndromes RMND1 Zornitza Stark reviewed gene: RMND1
Genetic Epilepsy Syndromes RFT1 Zornitza Stark reviewed gene: RFT1
Genetic Epilepsy Syndromes RARS2 Zornitza Stark reviewed gene: RARS2
Genetic Epilepsy Syndromes RANBP2 Zornitza Stark reviewed gene: RANBP2
Genetic Epilepsy Syndromes RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2
Genetic Epilepsy Syndromes RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1
Genetic Epilepsy Syndromes RAB18 Zornitza Stark reviewed gene: RAB18
Genetic Epilepsy Syndromes RAB11B Zornitza Stark reviewed gene: RAB11B
Genetic Epilepsy Syndromes QDPR Zornitza Stark reviewed gene: QDPR
Genetic Epilepsy Syndromes PTS Zornitza Stark reviewed gene: PTS
Genetic Epilepsy Syndromes PTF1A Zornitza Stark reviewed gene: PTF1A
Genetic Epilepsy Syndromes PTEN Zornitza Stark reviewed gene: PTEN
Genetic Epilepsy Syndromes PSPH Zornitza Stark reviewed gene: PSPH
Genetic Epilepsy Syndromes PSAT1 Zornitza Stark reviewed gene: PSAT1
Genetic Epilepsy Syndromes PSAP Zornitza Stark reviewed gene: PSAP
Genetic Epilepsy Syndromes PROSC Zornitza Stark reviewed gene: PROSC
Genetic Epilepsy Syndromes PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1
Genetic Epilepsy Syndromes PPT1 Zornitza Stark reviewed gene: PPT1
Genetic Epilepsy Syndromes PPP3CA Zornitza Stark reviewed gene: PPP3CA
Genetic Epilepsy Syndromes POMT2 Zornitza Stark reviewed gene: POMT2
Genetic Epilepsy Syndromes POMT1 Zornitza Stark reviewed gene: POMT1
Genetic Epilepsy Syndromes POMGNT1 Zornitza Stark reviewed gene: POMGNT1
Genetic Epilepsy Syndromes PMM2 Zornitza Stark reviewed gene: PMM2
Genetic Epilepsy Syndromes PLAA Zornitza Stark reviewed gene: PLAA
Genetic Epilepsy Syndromes PIK3R2 Zornitza Stark reviewed gene: PIK3R2
Genetic Epilepsy Syndromes PIK3CA Zornitza Stark reviewed gene: PIK3CA
Genetic Epilepsy Syndromes PIGW Zornitza Stark reviewed gene: PIGW
Genetic Epilepsy Syndromes CUX2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability CUX2 Konstantinos Varvagiannis reviewed gene: CUX2
Intellectual disability RORA Konstantinos Varvagiannis Added gene to panel
Genetic Epilepsy Syndromes RORA Konstantinos Varvagiannis Added gene to panel
Genetic Epilepsy Syndromes PIGO Zornitza Stark reviewed gene: PIGO
Genetic Epilepsy Syndromes PIGC Zornitza Stark reviewed gene: PIGC
Genetic Epilepsy Syndromes PHGDH Zornitza Stark reviewed gene: PHGDH
Genetic Epilepsy Syndromes PEX7 Zornitza Stark reviewed gene: PEX7
Genetic Epilepsy Syndromes PEX1 Zornitza Stark reviewed gene: PEX1
Genetic Epilepsy Syndromes PET100 Zornitza Stark reviewed gene: PET100
Genetic Epilepsy Syndromes PDSS2 Zornitza Stark reviewed gene: PDSS2
Genetic Epilepsy Syndromes PDHX Zornitza Stark reviewed gene: PDHX
Genetic Epilepsy Syndromes PDHA1 Zornitza Stark reviewed gene: PDHA1
Genetic Epilepsy Syndromes PCLO Zornitza Stark reviewed gene: PCLO
Genetic Epilepsy Syndromes PCDH12 Zornitza Stark reviewed gene: PCDH12
Genetic Epilepsy Syndromes PCCB Zornitza Stark reviewed gene: PCCB
Genetic Epilepsy Syndromes PCCA Zornitza Stark reviewed gene: PCCA
Genetic Epilepsy Syndromes PAH Zornitza Stark reviewed gene: PAH
Genetic Epilepsy Syndromes PAFAH1B1 Zornitza Stark reviewed gene: PAFAH1B1
Genetic Epilepsy Syndromes PACS2 Zornitza Stark reviewed gene: PACS2
Genetic Epilepsy Syndromes PACS1 Zornitza Stark reviewed gene: PACS1
Genetic Epilepsy Syndromes OTX2 Zornitza Stark reviewed gene: OTX2
Genetic Epilepsy Syndromes OPHN1 Zornitza Stark reviewed gene: OPHN1
Genetic Epilepsy Syndromes OCLN Zornitza Stark reviewed gene: OCLN
Genetic Epilepsy Syndromes NUBPL Zornitza Stark reviewed gene: NUBPL
Genetic Epilepsy Syndromes NSDHL Zornitza Stark reviewed gene: NSDHL
Genetic Epilepsy Syndromes NSD1 Zornitza Stark reviewed gene: NSD1
Genetic Epilepsy Syndromes NRXN1 Zornitza Stark reviewed gene: NRXN1
Genetic Epilepsy Syndromes NRAS Zornitza Stark reviewed gene: NRAS
Genetic Epilepsy Syndromes NPRL3 Zornitza Stark reviewed gene: NPRL3
Genetic Epilepsy Syndromes NPRL2 Zornitza Stark reviewed gene: NPRL2
Genetic Epilepsy Syndromes NHLRC1 Zornitza Stark reviewed gene: NHLRC1
Genetic Epilepsy Syndromes NGLY1 Zornitza Stark reviewed gene: NGLY1
Genetic Epilepsy Syndromes NEDD4L Zornitza Stark reviewed gene: NEDD4L
Genetic Epilepsy Syndromes NECAP1 Zornitza Stark commented on gene: NECAP1
Genetic Epilepsy Syndromes NECAP1 Zornitza Stark reviewed gene: NECAP1
Genetic Epilepsy Syndromes NDUFV1 Zornitza Stark commented on gene: NDUFV1
Genetic Epilepsy Syndromes NDUFV1 Zornitza Stark reviewed gene: NDUFV1
Genetic Epilepsy Syndromes NDUFS8 Zornitza Stark reviewed gene: NDUFS8
Genetic Epilepsy Syndromes NDUFS7 Zornitza Stark reviewed gene: NDUFS7
Genetic Epilepsy Syndromes NDUFS6 Zornitza Stark reviewed gene: NDUFS6
Genetic Epilepsy Syndromes NDUFS4 Zornitza Stark reviewed gene: NDUFS4
Genetic Epilepsy Syndromes NDUFS2 Zornitza Stark reviewed gene: NDUFS2
Genetic Epilepsy Syndromes NDUFS1 Zornitza Stark reviewed gene: NDUFS1
Genetic Epilepsy Syndromes NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5
Genetic Epilepsy Syndromes NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4
Genetic Epilepsy Syndromes NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3
Genetic Epilepsy Syndromes NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2
Genetic Epilepsy Syndromes NDUFA2 Zornitza Stark reviewed gene: NDUFA2
Genetic Epilepsy Syndromes NDUFA10 Zornitza Stark reviewed gene: NDUFA10
Genetic Epilepsy Syndromes NDUFA1 Zornitza Stark reviewed gene: NDUFA1
Genetic Epilepsy Syndromes NDP Zornitza Stark reviewed gene: NDP
Genetic Epilepsy Syndromes NDE1 Zornitza Stark reviewed gene: NDE1
Genetic Epilepsy Syndromes NARS2 Zornitza Stark reviewed gene: NARS2
Genetic Epilepsy Syndromes NAGA Zornitza Stark reviewed gene: NAGA
Genetic Epilepsy Syndromes PACS1 Konstantinos Varvagiannis Added gene to panel
Genetic Epilepsy Syndromes PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Intellectual disability PACS2 Konstantinos Varvagiannis Added gene to panel
Genetic Epilepsy Syndromes PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Genetic Epilepsy Syndromes PACS2 Konstantinos Varvagiannis Added gene to panel
Genetic Epilepsy Syndromes MTR Zornitza Stark reviewed gene: MTR
Genetic Epilepsy Syndromes MTHFR Zornitza Stark reviewed gene: MTHFR
Genetic Epilepsy Syndromes MPDU1 Zornitza Stark reviewed gene: MPDU1
Genetic Epilepsy Syndromes MOCS2 Zornitza Stark reviewed gene: MOCS2
Genetic Epilepsy Syndromes MOCS1 Zornitza Stark reviewed gene: MOCS1
Genetic Epilepsy Syndromes MMADHC Zornitza Stark reviewed gene: MMADHC
Genetic Epilepsy Syndromes MMACHC Zornitza Stark reviewed gene: MMACHC
Genetic Epilepsy Syndromes MLC1 Zornitza Stark reviewed gene: MLC1
Genetic Epilepsy Syndromes MED12 Zornitza Stark reviewed gene: MED12
Genetic Epilepsy Syndromes MAPK10 Zornitza Stark reviewed gene: MAPK10
Genetic Epilepsy Syndromes MAP2K2 Zornitza Stark reviewed gene: MAP2K2
Genetic Epilepsy Syndromes MAP2K1 Zornitza Stark reviewed gene: MAP2K1
Genetic Epilepsy Syndromes MANBA Zornitza Stark reviewed gene: MANBA
Genetic Epilepsy Syndromes LNPK Zornitza Stark reviewed gene: LNPK
Genetic Epilepsy Syndromes LIPT2 Zornitza Stark reviewed gene: LIPT2
Genetic Epilepsy Syndromes LIAS Zornitza Stark reviewed gene: LIAS
Genetic Epilepsy Syndromes LARGE1 Zornitza Stark reviewed gene: LARGE1
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Genetic Epilepsy Syndromes GRIA4 Zornitza Stark Added gene to panel
Genetic Epilepsy Syndromes KRAS Zornitza Stark reviewed gene: KRAS
Genetic Epilepsy Syndromes KPTN Zornitza Stark reviewed gene: KPTN
Genetic Epilepsy Syndromes KIF5C Zornitza Stark reviewed gene: KIF5C
Genetic Epilepsy Syndromes KIF2A Zornitza Stark reviewed gene: KIF2A
Genetic Epilepsy Syndromes KIF1A Zornitza Stark reviewed gene: KIF1A
Genetic Epilepsy Syndromes KIAA1109 Zornitza Stark reviewed gene: KIAA1109
Genetic Epilepsy Syndromes KCTD3 Zornitza Stark reviewed gene: KCTD3
Genetic Epilepsy Syndromes KCNQ5 Zornitza Stark reviewed gene: KCNQ5
Genetic Epilepsy Syndromes KCNMA1 Zornitza Stark reviewed gene: KCNMA1
Genetic Epilepsy Syndromes KCNJ11 Zornitza Stark reviewed gene: KCNJ11
Genetic Epilepsy Syndromes KAT5 Zornitza Stark reviewed gene: KAT5
Genetic Epilepsy Syndromes ISPD Zornitza Stark reviewed gene: ISPD
Genetic Epilepsy Syndromes IRF2BPL Zornitza Stark reviewed gene: IRF2BPL
Genetic Epilepsy Syndromes IKBKG Zornitza Stark reviewed gene: IKBKG
Genetic Epilepsy Syndromes IFIH1 Zornitza Stark reviewed gene: IFIH1
Neonatal cholestasis TFR2 Eleanor Williams classified TFR2 as Amber List (moderate evidence)
Neonatal cholestasis TFR2 Eleanor Williams commented on gene: TFR2
Genetic Epilepsy Syndromes FBXO11 Konstantinos Varvagiannis Added gene to panel
Intellectual disability FBXO11 Konstantinos Varvagiannis Added gene to panel
Intellectual disability SYT1 Louise Daugherty classified SYT1 as Green List (high evidence)
Intellectual disability SYT1 Louise Daugherty commented on gene: SYT1
Intellectual disability SYT1 Louise Daugherty edited their review of gene: SYT1
Neonatal cholestasis SLC10A1 Sarah Leigh marked gene: SLC10A1 as ready
Neonatal cholestasis TMEM216 Eleanor Williams classified TMEM216 as Amber List (moderate evidence)
Neonatal cholestasis SCP2 Sarah Leigh marked gene: SCP2 as ready
Neonatal cholestasis NPHP4 Sarah Leigh marked gene: NPHP4 as ready
Neonatal cholestasis MVK Sarah Leigh marked gene: MVK as ready
Neonatal cholestasis MVK Sarah Leigh classified MVK as Green List (high evidence)
Neonatal cholestasis MPI Sarah Leigh marked gene: MPI as ready
Neonatal cholestasis MPI Sarah Leigh classified MPI as Green List (high evidence)
Neonatal cholestasis TMEM216 Eleanor Williams commented on gene: TMEM216
Neonatal cholestasis TMEM216 Eleanor Williams commented on gene: TMEM216
Neonatal cholestasis INVS Sarah Leigh marked gene: INVS as ready
Neonatal cholestasis INVS Sarah Leigh classified INVS as Green List (high evidence)
Neonatal cholestasis UTP4 Eleanor Williams commented on gene: UTP4
Neonatal cholestasis IARS Sarah Leigh marked gene: IARS as ready
Neonatal cholestasis IARS Sarah Leigh classified IARS as Amber List (moderate evidence)
Genetic Epilepsy Syndromes IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Intellectual disability CCDC8 Louise Daugherty reviewed gene: CCDC8
Genetic Epilepsy Syndromes IRF2BPL Konstantinos Varvagiannis Added gene to panel
Intellectual disability CDKN1C Louise Daugherty edited their review of gene: CDKN1C
Intellectual disability IRF2BPL Konstantinos Varvagiannis Added gene to panel
Neonatal cholestasis HFE2 Sarah Leigh marked gene: HFE2 as ready
Neonatal cholestasis HFE2 Sarah Leigh classified HFE2 as Amber List (moderate evidence)
Neonatal cholestasis HFE2 Sarah Leigh commented on gene: HFE2
Neonatal cholestasis HFE Sarah Leigh classified HFE as Amber List (moderate evidence)
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Amber List (moderate evidence)
Genetic Epilepsy Syndromes H3F3B Konstantinos Varvagiannis reviewed gene: H3F3B
Neonatal cholestasis HFE Sarah Leigh marked gene: HFE as ready
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Red List (low evidence)
Genetic Epilepsy Syndromes HSPD1 Zornitza Stark reviewed gene: HSPD1
Genetic Epilepsy Syndromes HSD17B4 Zornitza Stark reviewed gene: HSD17B4
Genetic Epilepsy Syndromes HRAS Zornitza Stark reviewed gene: HRAS
Genetic Epilepsy Syndromes HPRT1 Zornitza Stark reviewed gene: HPRT1
Genetic Epilepsy Syndromes HOXA1 Zornitza Stark reviewed gene: HOXA1
Genetic Epilepsy Syndromes HLCS Zornitza Stark reviewed gene: HLCS
Genetic Epilepsy Syndromes HEXB Zornitza Stark reviewed gene: HEXB
Genetic Epilepsy Syndromes HEXA Zornitza Stark reviewed gene: HEXA
Genetic Epilepsy Syndromes HEPACAM Zornitza Stark reviewed gene: HEPACAM
Genetic Epilepsy Syndromes HCN2 Zornitza Stark reviewed gene: HCN2
Genetic Epilepsy Syndromes HCFC1 Zornitza Stark reviewed gene: HCFC1
Genetic Epilepsy Syndromes HCCS Zornitza Stark reviewed gene: HCCS
Genetic Epilepsy Syndromes HAX1 Zornitza Stark reviewed gene: HAX1
Genetic Epilepsy Syndromes H3F3B Zornitza Stark reviewed gene: H3F3B
Genetic Epilepsy Syndromes H3F3A Zornitza Stark reviewed gene: H3F3A
Genetic Epilepsy Syndromes LNPK Konstantinos Varvagiannis Added gene to panel
Intellectual disability LNPK Konstantinos Varvagiannis Added gene to panel
Neonatal cholestasis HAMP Sarah Leigh marked gene: HAMP as ready
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Amber List (moderate evidence)
Neonatal cholestasis HADHA Sarah Leigh marked gene: HADHA as ready
Neonatal cholestasis HADHA Sarah Leigh classified HADHA as Green List (high evidence)
Neonatal cholestasis GPBAR1 Sarah Leigh marked gene: GPBAR1 as ready
Neonatal cholestasis GBE1 Sarah Leigh marked gene: GBE1 as ready
Neonatal cholestasis GBE1 Sarah Leigh classified GBE1 as Green List (high evidence)
Neonatal cholestasis GBA Sarah Leigh marked gene: GBA as ready
Neonatal cholestasis GBA Sarah Leigh classified GBA as Green List (high evidence)
Neonatal cholestasis GALT Sarah Leigh marked gene: GALT as ready
Neonatal cholestasis GALT Sarah Leigh classified GALT as Green List (high evidence)
Neonatal cholestasis EPHX1 Sarah Leigh marked gene: EPHX1 as ready
Genetic Epilepsy Syndromes GTPBP3 Zornitza Stark reviewed gene: GTPBP3
Genetic Epilepsy Syndromes GRIN2D Zornitza Stark reviewed gene: GRIN2D
Genetic Epilepsy Syndromes GPHN Zornitza Stark reviewed gene: GPHN
Genetic Epilepsy Syndromes GOSR2 Zornitza Stark reviewed gene: GOSR2
Genetic Epilepsy Syndromes GNB1 Zornitza Stark reviewed gene: GNB1
Genetic Epilepsy Syndromes GNAQ Zornitza Stark reviewed gene: GNAQ
Genetic Epilepsy Syndromes GM2A Zornitza Stark reviewed gene: GM2A
Genetic Epilepsy Syndromes GLUL Zornitza Stark reviewed gene: GLUL
Neonatal cholestasis EHHADH Sarah Leigh marked gene: EHHADH as ready
Neonatal cholestasis DHCR7 Sarah Leigh marked gene: DHCR7 as ready
Genetic Epilepsy Syndromes DHCR7 Sarah Leigh classified DHCR7 as Green List (high evidence)
Genetic Epilepsy Syndromes DHCR7 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes ADPRHL2 Konstantinos Varvagiannis reviewed gene: ADPRHL2
Intellectual disability ADPRHL2 Konstantinos Varvagiannis Added gene to panel
Neonatal cholestasis CYP7A1 Sarah Leigh marked gene: CYP7A1 as ready
Genetic Epilepsy Syndromes GLUD1 Zornitza Stark reviewed gene: GLUD1
Genetic Epilepsy Syndromes GLI3 Zornitza Stark reviewed gene: GLI3
Genetic Epilepsy Syndromes GLDC Zornitza Stark reviewed gene: GLDC
Genetic Epilepsy Syndromes GLB1 Zornitza Stark reviewed gene: GLB1
Genetic Epilepsy Syndromes GFM1 Zornitza Stark reviewed gene: GFM1
Genetic Epilepsy Syndromes GFAP Zornitza Stark reviewed gene: GFAP
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Red List (low evidence)
Intellectual disability SYT1 Zornitza Stark reviewed gene: SYT1
Neonatal cholestasis POLG Sarah Leigh marked gene: POLG as ready
Neonatal cholestasis POLG Sarah Leigh classified POLG as Green List (high evidence)
Genetic Epilepsy Syndromes COG7 Sarah Leigh marked gene: COG7 as ready
Neonatal cholestasis COG7 Sarah Leigh marked gene: COG7 as ready
Neonatal cholestasis COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Genetic Epilepsy Syndromes COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Congenital hearing impairment (profound/severe) KCNQ4 Ellen McDonagh edited their review of gene: KCNQ4
Neonatal cholestasis CC2D2A Sarah Leigh classified CC2D2A as Green List (high evidence)
Neonatal cholestasis CC2D2A Sarah Leigh marked gene: CC2D2A as ready
Congenital hearing impairment (profound/severe) KCNQ4 Ellen McDonagh edited their review of gene: KCNQ4
Genetic Epilepsy Syndromes GCSH Zornitza Stark reviewed gene: GCSH
Genetic Epilepsy Syndromes GCH1 Zornitza Stark reviewed gene: GCH1
Genetic Epilepsy Syndromes GBA Zornitza Stark reviewed gene: GBA
Genetic Epilepsy Syndromes GAMT Zornitza Stark reviewed gene: GAMT
Genetic Epilepsy Syndromes GALC Zornitza Stark reviewed gene: GALC
Genetic Epilepsy Syndromes GABRB2 Zornitza Stark reviewed gene: GABRB2
Genetic Epilepsy Syndromes FUCA1 Zornitza Stark reviewed gene: FUCA1
Genetic Epilepsy Syndromes FRRS1L Zornitza Stark reviewed gene: FRRS1L
Genetic Epilepsy Syndromes FOXRED1 Zornitza Stark reviewed gene: FOXRED1
Genetic Epilepsy Syndromes FOLR1 Zornitza Stark reviewed gene: FOLR1
Genetic Epilepsy Syndromes FLNA Zornitza Stark reviewed gene: FLNA
Genetic Epilepsy Syndromes FKTN Zornitza Stark reviewed gene: FKTN
Genetic Epilepsy Syndromes FKRP Zornitza Stark reviewed gene: FKRP
Genetic Epilepsy Syndromes FIG4 Zornitza Stark reviewed gene: FIG4
Intellectual disability TBC1D7 Konstantinos Varvagiannis reviewed gene: TBC1D7
Intellectual disability TBC1D7 Konstantinos Varvagiannis edited their review of gene: TBC1D7
Intellectual disability TUBG1 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GPHN Konstantinos Varvagiannis reviewed gene: GPHN
Intellectual disability MNX1 Konstantinos Varvagiannis reviewed gene: MNX1
Intellectual disability MTO1 Konstantinos Varvagiannis reviewed gene: MTO1
Inherited optic neuropathies SLC52A2 Ellen McDonagh classified SLC52A2 as Green List (high evidence)
Inherited optic neuropathies SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Inherited optic neuropathies SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Inherited optic neuropathies SLC52A2 Ellen McDonagh Added gene to panel
Charcot-Marie-Tooth disease SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Undiagnosed metabolic disorders SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Paediatric motor neuronopathies SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Craniosynostosis syndromes phenotypes TLK2 Ellen McDonagh commented on gene: TLK2
Craniosynostosis syndromes phenotypes TLK2 Ellen McDonagh classified TLK2 as Green List (high evidence)
Craniosynostosis syndromes phenotypes TLK2 Ellen McDonagh Added gene to panel
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as Green List (high evidence)
Craniosynostosis syndromes phenotypes ALX4 Louise Daugherty classified ALX4 as Green List (high evidence)
Hereditary ataxia SPTBN2 Ellen McDonagh commented on gene: SPTBN2
Intellectual disability ALX4 Louise Daugherty edited their review of gene: ALX4
Craniosynostosis syndromes phenotypes ALX4 Louise Daugherty reviewed gene: ALX4
Significant early-onset obesity +/- other endocrine features and short stature MYT1L Ellen McDonagh classified MYT1L as Green List (high evidence)
Neonatal cholestasis ARG1 Sarah Leigh marked gene: ARG1 as ready
Cystic kidney disease DNAJB11 Ellen McDonagh classified DNAJB11 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty classified ATP6AP2 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty commented on gene: ATP6AP2
Neonatal cholestasis PEX7 Sarah Leigh marked gene: PEX7 as ready
Genetic Epilepsy Syndromes PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Genetic Epilepsy Syndromes PEX6 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Intellectual disability CA2 Louise Daugherty commented on gene: CA2
Neonatal cholestasis PEX5 Sarah Leigh marked gene: PEX5 as ready
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Red List (low evidence)
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Genetic Epilepsy Syndromes PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Genetic Epilepsy Syndromes PEX5 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX3 Sarah Leigh marked gene: PEX3 as ready
Neonatal cholestasis PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Genetic Epilepsy Syndromes PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Genetic Epilepsy Syndromes PEX3 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX26 Sarah Leigh marked gene: PEX26 as ready
Neonatal cholestasis PEX26 Sarah Leigh classified PEX26 as Green List (high evidence)
Genetic Epilepsy Syndromes FH Zornitza Stark reviewed gene: FH
Genetic Epilepsy Syndromes FGFR3 Zornitza Stark reviewed gene: FGFR3
Intellectual disability CA2 Louise Daugherty edited their review of gene: CA2
Genetic Epilepsy Syndromes PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Genetic Epilepsy Syndromes PEX19 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX19 Sarah Leigh marked gene: PEX19 as ready
Genetic Epilepsy Syndromes FGF12 Zornitza Stark reviewed gene: FGF12
Neonatal cholestasis PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Genetic Epilepsy Syndromes FBXL4 Zornitza Stark reviewed gene: FBXL4
Genetic Epilepsy Syndromes FASTKD2 Zornitza Stark reviewed gene: FASTKD2
Genetic Epilepsy Syndromes FARS2 Zornitza Stark reviewed gene: FARS2
Intellectual disability KIF2A Konstantinos Varvagiannis reviewed gene: KIF2A
Neonatal cholestasis PEX16 Sarah Leigh marked gene: PEX16 as ready
Genetic Epilepsy Syndromes EXOSC3 Zornitza Stark reviewed gene: EXOSC3
Neonatal cholestasis PEX16 Sarah Leigh classified PEX16 as Green List (high evidence)
Genetic Epilepsy Syndromes ETHE1 Zornitza Stark reviewed gene: ETHE1
Genetic Epilepsy Syndromes EMX2 Zornitza Stark reviewed gene: EMX2
Genetic Epilepsy Syndromes EIF2S3 Zornitza Stark reviewed gene: EIF2S3
Genetic Epilepsy Syndromes EIF2B5 Zornitza Stark reviewed gene: EIF2B5
Genetic Epilepsy Syndromes EIF2B4 Zornitza Stark reviewed gene: EIF2B4
Genetic Epilepsy Syndromes EIF2B3 Zornitza Stark reviewed gene: EIF2B3
Genetic Epilepsy Syndromes EIF2B2 Zornitza Stark reviewed gene: EIF2B2
Genetic Epilepsy Syndromes EIF2B1 Zornitza Stark reviewed gene: EIF2B1
Genetic Epilepsy Syndromes EEF1A2 Zornitza Stark reviewed gene: EEF1A2
Genetic Epilepsy Syndromes EARS2 Zornitza Stark reviewed gene: EARS2
Limb disorders SLX4 Ellen McDonagh Added gene to panel
Limb disorders RPS7 Ellen McDonagh Added gene to panel
Limb disorders RPS29 Ellen McDonagh Added gene to panel
Limb disorders RPS28 Ellen McDonagh Added gene to panel
Limb disorders RPS26 Ellen McDonagh Added gene to panel
Limb disorders RPS24 Ellen McDonagh Added gene to panel
Limb disorders RPS19 Ellen McDonagh Added gene to panel
Limb disorders RPS17 Ellen McDonagh Added gene to panel
Limb disorders RPS10 Ellen McDonagh Added gene to panel
Limb disorders RPL5 Ellen McDonagh Added gene to panel
Limb disorders RPL35A Ellen McDonagh Added gene to panel
Limb disorders RPL26 Ellen McDonagh Added gene to panel
Limb disorders RPL11 Ellen McDonagh Added gene to panel
Limb disorders RAD51C Ellen McDonagh Added gene to panel
Limb disorders PALB2 Ellen McDonagh Added gene to panel
Limb disorders GATA1 Ellen McDonagh Added gene to panel
Limb disorders FANCM Ellen McDonagh Added gene to panel
Limb disorders FANCL Ellen McDonagh Added gene to panel
Limb disorders FANCI Ellen McDonagh Added gene to panel
Limb disorders FANCG Ellen McDonagh Added gene to panel
Limb disorders FANCF Ellen McDonagh Added gene to panel
Limb disorders FANCE Ellen McDonagh Added gene to panel
Limb disorders FANCD2 Ellen McDonagh Added gene to panel
Limb disorders FANCC Ellen McDonagh Added gene to panel
Limb disorders FANCB Ellen McDonagh Added gene to panel
Limb disorders FANCA Ellen McDonagh Added gene to panel
Limb disorders ERCC4 Ellen McDonagh Added gene to panel
Limb disorders BRIP1 Ellen McDonagh Added gene to panel
Limb disorders BRCA2 Ellen McDonagh Added gene to panel
Limb disorders ZSWIM6 Ellen McDonagh Added gene to panel
Limb disorders WDR35 Ellen McDonagh Added gene to panel
Limb disorders WDR34 Ellen McDonagh Added gene to panel
Limb disorders WDR19 Ellen McDonagh Added gene to panel
Limb disorders WDPCP Ellen McDonagh Added gene to panel
Limb disorders USP9X Ellen McDonagh Added gene to panel
Limb disorders UBE3B Ellen McDonagh Added gene to panel
Limb disorders TWIST1 Ellen McDonagh Added gene to panel
Limb disorders TTC8 Ellen McDonagh Added gene to panel
Limb disorders TTC21B Ellen McDonagh Added gene to panel
Limb disorders TRIM32 Ellen McDonagh Added gene to panel
Limb disorders TRAF3IP1 Ellen McDonagh Added gene to panel
Limb disorders TMEM237 Ellen McDonagh Added gene to panel
Limb disorders TMEM231 Ellen McDonagh Added gene to panel
Limb disorders TMEM216 Ellen McDonagh Added gene to panel
Limb disorders TMEM138 Ellen McDonagh Added gene to panel
Limb disorders TFAP2B Ellen McDonagh Added gene to panel
Limb disorders TFAP2A Ellen McDonagh Added gene to panel
Limb disorders TCTN3 Ellen McDonagh Added gene to panel
Limb disorders TCTN2 Ellen McDonagh Added gene to panel
Limb disorders TCTEX1D2 Ellen McDonagh Added gene to panel
Limb disorders TBX22 Ellen McDonagh Added gene to panel
Limb disorders SPINT2 Ellen McDonagh Added gene to panel
Limb disorders SMO Ellen McDonagh Added gene to panel
Limb disorders SDCCAG8 Ellen McDonagh Added gene to panel
Limb disorders SC5D Ellen McDonagh Added gene to panel
Limb disorders RBM10 Ellen McDonagh Added gene to panel
Limb disorders PROM1 Ellen McDonagh Added gene to panel
Limb disorders PNPLA6 Ellen McDonagh Added gene to panel
Limb disorders PIK3R2 Ellen McDonagh Added gene to panel
Limb disorders PIK3CA Ellen McDonagh Added gene to panel
Limb disorders PDE6D Ellen McDonagh Added gene to panel
Limb disorders NPHP3 Ellen McDonagh Added gene to panel
Limb disorders MKKS Ellen McDonagh Added gene to panel
Limb disorders MEGF8 Ellen McDonagh Added gene to panel
Limb disorders MBTPS2 Ellen McDonagh Added gene to panel
Limb disorders LZTFL1 Ellen McDonagh Added gene to panel
Limb disorders LBR Ellen McDonagh Added gene to panel
Limb disorders INPP5E Ellen McDonagh Added gene to panel
Limb disorders IFT80 Ellen McDonagh Added gene to panel
Limb disorders IFT52 Ellen McDonagh Added gene to panel
Limb disorders IFT27 Ellen McDonagh Added gene to panel
Limb disorders IFT172 Ellen McDonagh Added gene to panel
Limb disorders IFT140 Ellen McDonagh Added gene to panel
Limb disorders ICK Ellen McDonagh Added gene to panel
Limb disorders HYLS1 Ellen McDonagh Added gene to panel
Limb disorders HNRNPK Ellen McDonagh Added gene to panel
Limb disorders GRIP1 Ellen McDonagh Added gene to panel
Limb disorders GPC3 Ellen McDonagh Added gene to panel
Limb disorders GLI2 Ellen McDonagh Added gene to panel
Limb disorders FREM2 Ellen McDonagh Added gene to panel
Limb disorders FRAS1 Ellen McDonagh Added gene to panel
Limb disorders EVC2 Ellen McDonagh Added gene to panel
Limb disorders EVC Ellen McDonagh Added gene to panel
Limb disorders EBP Ellen McDonagh Added gene to panel
Limb disorders DYNC2LI1 Ellen McDonagh Added gene to panel
Limb disorders DDX59 Ellen McDonagh Added gene to panel
Limb disorders CSPP1 Ellen McDonagh Added gene to panel
Limb disorders CKAP2L Ellen McDonagh Added gene to panel
Limb disorders CEP41 Ellen McDonagh Added gene to panel
Limb disorders CEP164 Ellen McDonagh Added gene to panel
Limb disorders CEP120 Ellen McDonagh Added gene to panel
Limb disorders CENPF Ellen McDonagh Added gene to panel
Limb disorders CD96 Ellen McDonagh Added gene to panel
Limb disorders CCND2 Ellen McDonagh Added gene to panel
Limb disorders C5orf42 Ellen McDonagh Added gene to panel
Limb disorders C2CD3 Ellen McDonagh Added gene to panel
Limb disorders BMP4 Ellen McDonagh Added gene to panel
Limb disorders BBS9 Ellen McDonagh Added gene to panel
Limb disorders BBS7 Ellen McDonagh Added gene to panel
Limb disorders BBS5 Ellen McDonagh Added gene to panel
Limb disorders BBS4 Ellen McDonagh Added gene to panel
Limb disorders BBS2 Ellen McDonagh Added gene to panel
Limb disorders BBS12 Ellen McDonagh Added gene to panel
Limb disorders BBS10 Ellen McDonagh Added gene to panel
Limb disorders BBS1 Ellen McDonagh Added gene to panel
Limb disorders B9D2 Ellen McDonagh Added gene to panel
Limb disorders B9D1 Ellen McDonagh Added gene to panel
Limb disorders ARMC8 Ellen McDonagh Added gene to panel
Limb disorders ARL6 Ellen McDonagh Added gene to panel
Limb disorders ALX3 Ellen McDonagh Added gene to panel
Limb disorders ALMS1 Ellen McDonagh Added gene to panel
Limb disorders AKT3 Ellen McDonagh Added gene to panel
Limb disorders AHI1 Ellen McDonagh Added gene to panel
Clefting TSR2 Ellen McDonagh Added gene to panel
Clefting TFAP2B Ellen McDonagh Added gene to panel
Clefting SELENOI Ellen McDonagh Added gene to panel
Clefting RSPO2 Ellen McDonagh Added gene to panel
Clefting RPL11 Ellen McDonagh Added gene to panel
Clefting PLCB4 Ellen McDonagh Added gene to panel
Clefting PGM1 Ellen McDonagh Added gene to panel
Clefting INTS1 Ellen McDonagh Added gene to panel
Clefting GNAI3 Ellen McDonagh Added gene to panel
Clefting FOXE1 Ellen McDonagh Added gene to panel
Clefting EIF4A3 Ellen McDonagh Added gene to panel
Clefting EDN1 Ellen McDonagh Added gene to panel
Clefting COL9A3 Ellen McDonagh Added gene to panel
Clefting CHD1 Ellen McDonagh Added gene to panel
Clefting BMP2 Ellen McDonagh Added gene to panel
Clefting ACBD5 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TP63 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TFAP2B Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TFAP2A Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services RSPO2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services NECTIN1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services PHF8 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services MSX1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services GRHL3 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services BMP4 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TXNL4A Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TSR2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TMCO1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TGDS Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TBX22 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services TBX1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services SOX9 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services SNRPB Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services SATB2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services RPS28 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services RPS26 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services RPL5 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services RPL11 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services RBM10 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services PLCB4 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services PGM1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services NEDD4L Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services MEIS2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services MED13L Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services KCNJ2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services IRF6 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services INTS1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services HOXA2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services GNAI3 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services FOXE1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services FOXC2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services SELENOI Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services EIF4A3 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services EDNRA Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services EDN1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services CTNND1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services COL9A3 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services COL9A2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services COL9A1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services COL2A1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services COL11A2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services COL11A1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services CHD1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services BMP2 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services ARHGAP29 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services AMER1 Ellen McDonagh Added gene to panel
Cleft palate or lip Victorian Clinical Genetics Services ACBD5 Ellen McDonagh Added gene to panel
Cytopaenias and congenital anaemias ADA2 Louise Daugherty edited their review of gene: ADA2
Intellectual disability GABBR2 Konstantinos Varvagiannis reviewed gene: GABBR2
Intellectual disability HERC2 Konstantinos Varvagiannis reviewed gene: HERC2
Intellectual disability ASNS Konstantinos Varvagiannis Added gene to panel
Genetic Epilepsy Syndromes DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1
Genetic Epilepsy Syndromes DPM2 Zornitza Stark reviewed gene: DPM2
Genetic Epilepsy Syndromes DPM1 Zornitza Stark reviewed gene: DPM1
Genetic Epilepsy Syndromes DPAGT1 Zornitza Stark reviewed gene: DPAGT1
Genetic Epilepsy Syndromes DOLK Zornitza Stark reviewed gene: DOLK
Genetic Epilepsy Syndromes DNM1L Zornitza Stark reviewed gene: DNM1L
Genetic Epilepsy Syndromes DNAJC6 Zornitza Stark reviewed gene: DNAJC6
Genetic Epilepsy Syndromes DHCR24 Zornitza Stark reviewed gene: DHCR24
Genetic Epilepsy Syndromes DENND5A Zornitza Stark reviewed gene: DENND5A
Genetic Epilepsy Syndromes ADPRHL2 Zornitza Stark Added gene to panel
Genetic Epilepsy Syndromes DDX3X Zornitza Stark reviewed gene: DDX3X
Genetic Epilepsy Syndromes DCX Zornitza Stark reviewed gene: DCX
Genetic Epilepsy Syndromes DBT Zornitza Stark reviewed gene: DBT
Genetic Epilepsy Syndromes D2HGDH Zornitza Stark reviewed gene: D2HGDH
Genetic Epilepsy Syndromes CTSD Zornitza Stark reviewed gene: CTSD
Genetic Epilepsy Syndromes CSTB Zornitza Stark reviewed gene: CSTB
Genetic Epilepsy Syndromes CSNK2B Zornitza Stark reviewed gene: CSNK2B
Genetic Epilepsy Syndromes COX15 Zornitza Stark reviewed gene: COX15
Genetic Epilepsy Syndromes COX10 Zornitza Stark reviewed gene: COX10
Intellectual disability TBC1D7 Konstantinos Varvagiannis Added gene to panel
Genetic Epilepsy Syndromes COQ9 Zornitza Stark reviewed gene: COQ9
Genetic Epilepsy Syndromes COQ6 Zornitza Stark reviewed gene: COQ6
Genetic Epilepsy Syndromes COQ4 Zornitza Stark reviewed gene: COQ4
Genetic Epilepsy Syndromes COQ2 Zornitza Stark reviewed gene: COQ2
Intellectual disability GPT2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GABRB2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability CNOT3 Louise Daugherty classified CNOT3 as Green List (high evidence)
Hereditary spastic paraplegia ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Red List (low evidence)
Undiagnosed metabolic disorders ATP7A Ellen McDonagh commented on gene: ATP7A
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Amber List (moderate evidence)
Intellectual disability ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Intellectual disability ERLIN2 Louise Daugherty reviewed gene: ERLIN2
Intellectual disability COQ5 Louise Daugherty edited their review of gene: COQ5
Genetic Epilepsy Syndromes COL4A2 Zornitza Stark reviewed gene: COL4A2
Genetic Epilepsy Syndromes COL4A1 Zornitza Stark reviewed gene: COL4A1
Genetic Epilepsy Syndromes COL18A1 Zornitza Stark reviewed gene: COL18A1
Genetic Epilepsy Syndromes COG8 Zornitza Stark reviewed gene: COG8
Genetic Epilepsy Syndromes COG7 Zornitza Stark reviewed gene: COG7
Genetic Epilepsy Syndromes COG6 Zornitza Stark reviewed gene: COG6
Genetic Epilepsy Syndromes COG4 Zornitza Stark reviewed gene: COG4
Genetic Epilepsy Syndromes CNPY3 Zornitza Stark reviewed gene: CNPY3
Genetic Epilepsy Syndromes CLN3 Zornitza Stark reviewed gene: CLN3
Genetic Epilepsy Syndromes CLCN4 Zornitza Stark reviewed gene: CLCN4
Genetic Epilepsy Syndromes CCND2 Zornitza Stark reviewed gene: CCND2
Genetic Epilepsy Syndromes CCDC88A Zornitza Stark reviewed gene: CCDC88A
Genetic Epilepsy Syndromes CC2D2A Zornitza Stark reviewed gene: CC2D2A
Intellectual disability EDNRB Louise Daugherty commented on gene: EDNRB
Intellectual disability EIF4A3 Louise Daugherty classified EIF4A3 as Green List (high evidence)
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability GBA Louise Daugherty edited their review of gene: GBA
Intellectual disability GSPT2 Louise Daugherty edited their review of gene: GSPT2
Intellectual disability HNRNPU Louise Daugherty commented on gene: HNRNPU
Intellectual disability HNRNPK Louise Daugherty classified HNRNPK as Green List (high evidence)
Intellectual disability HNRNPK Louise Daugherty edited their review of gene: HNRNPK
Intellectual disability DPF2 Louise Daugherty classified DPF2 as Green List (high evidence)
Intellectual disability DPF2 Louise Daugherty commented on gene: DPF2
Intellectual disability DPF2 Louise Daugherty reviewed gene: DPF2
Neonatal cholestasis PEX13 Ellen McDonagh classified PEX13 as Green List (high evidence)
Neonatal cholestasis PEX10 Ellen McDonagh classified PEX10 as Green List (high evidence)
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty commented on gene: IGF1R
Intellectual disability DPF2 Rachel Jones reviewed gene: DPF2
Intellectual disability NRXN2 Louise Daugherty edited their review of gene: NRXN2
Intellectual disability NRXN1 Louise Daugherty reviewed gene: NRXN1
Intellectual disability ATP1A3 Louise Daugherty classified ATP1A3 as Amber List (moderate evidence)
Intellectual disability APTX Louise Daugherty classified APTX as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Ehlers-Danlos syndromes SMAD2 Louise Daugherty classified SMAD2 as Green List (high evidence)
Ehlers-Danlos syndromes SMAD2 Louise Daugherty edited their review of gene: SMAD2
Ehlers-Danlos syndromes SMAD2 Louise Daugherty commented on gene: SMAD2
Resistance to thyroid hormone SLC16A2 Ellen McDonagh commented on gene: SLC16A2
Resistance to thyroid hormone THRB Ellen McDonagh commented on gene: THRB
Resistance to thyroid hormone THRA Ellen McDonagh commented on gene: THRA
Genetic Epilepsy Syndromes CASK Zornitza Stark reviewed gene: CASK
Genetic Epilepsy Syndromes CACNA2D2 Zornitza Stark reviewed gene: CACNA2D2
Genetic Epilepsy Syndromes CACNA1H Zornitza Stark reviewed gene: CACNA1H
Genetic Epilepsy Syndromes C12orf57 Zornitza Stark reviewed gene: C12orf57
Genetic Epilepsy Syndromes BTD Zornitza Stark reviewed gene: BTD
Genetic Epilepsy Syndromes BRAF Zornitza Stark reviewed gene: BRAF
Genetic Epilepsy Syndromes BOLA3 Zornitza Stark reviewed gene: BOLA3
Genetic Epilepsy Syndromes BCS1L Zornitza Stark reviewed gene: BCS1L
Genetic Epilepsy Syndromes BCKDHB Zornitza Stark reviewed gene: BCKDHB
Genetic Epilepsy Syndromes BCKDHA Zornitza Stark reviewed gene: BCKDHA
Intellectual disability PCGF2 Louise Daugherty classified PCGF2 as Amber List (moderate evidence)
Intellectual disability PCGF2 Louise Daugherty commented on gene: PCGF2
Intellectual disability PRRT2 Louise Daugherty classified PRRT2 as Amber List (moderate evidence)
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Clefting TGFBR2 Anna de Burca Added gene to panel
Cytopaenias and congenital anaemias ADA2 Louise Daugherty classified ADA2 as Red List (low evidence)
Cytopaenias and congenital anaemias ADA2 Louise Daugherty commented on gene: ADA2
Cytopaenias and congenital anaemias EPO Louise Daugherty classified EPO as Red List (low evidence)
Cytopaenias and congenital anaemias EPO Louise Daugherty classified EPO as Red List (low evidence)
Hydrocephalus USP9X Sarah Leigh classified USP9X as Green List (high evidence)
Clefting USP9X Sarah Leigh classified USP9X as Green List (high evidence)
Clefting USP9X Sarah Leigh Added gene to panel
Hydrocephalus USP9X Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes ATP7A Zornitza Stark reviewed gene: ATP7A
Genetic Epilepsy Syndromes ATP1A2 Zornitza Stark reviewed gene: ATP1A2
Genetic Epilepsy Syndromes ALG8 Zornitza Stark reviewed gene: ALG8
Genetic Epilepsy Syndromes AKT1 Zornitza Stark reviewed gene: AKT1
Rare multisystem ciliopathy disorders WDR60 Zornitza Stark reviewed gene: WDR60
Rare multisystem ciliopathy disorders TXNDC15 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders TCTEX1D2 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders SUFU Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders SCLT1 Zornitza Stark reviewed gene: SCLT1
Rare multisystem ciliopathy disorders POC1B Zornitza Stark reviewed gene: POC1B
Rare multisystem ciliopathy disorders NEK8 Zornitza Stark reviewed gene: NEK8
Rare multisystem ciliopathy disorders LBR Zornitza Stark reviewed gene: LBR
Rare multisystem ciliopathy disorders KIAA0753 Zornitza Stark reviewed gene: KIAA0753
Genetic Epilepsy Syndromes PEX12 Sarah Leigh marked gene: PEX12 as ready
Genetic Epilepsy Syndromes PEX12 Sarah Leigh classified PEX12 as Green List (high evidence)
Genetic Epilepsy Syndromes PEX12 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX12 Sarah Leigh classified PEX12 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations HOXD13 Eleanor Williams commented on gene: HOXD13
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams commented on gene: PTEN
Non-syndromic familial congenital anorectal malformations MYH14 Eleanor Williams commented on gene: MYH14
Non-syndromic familial congenital anorectal malformations CDX1 Eleanor Williams commented on gene: CDX1
Non-syndromic familial congenital anorectal malformations DKK1 Eleanor Williams commented on gene: DKK1
Non-syndromic familial congenital anorectal malformations TP63 Eleanor Williams commented on gene: TP63
Non-syndromic familial congenital anorectal malformations T Eleanor Williams commented on gene: T
Non-syndromic familial congenital anorectal malformations EDNRB Eleanor Williams commented on gene: EDNRB
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams commented on gene: FANCB
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams commented on gene: ZIC3
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams commented on gene: FOXF1
Non-syndromic familial congenital anorectal malformations HHIP Eleanor Williams commented on gene: HHIP
Non-syndromic familial congenital anorectal malformations WDPCP Eleanor Williams commented on gene: WDPCP
Non-syndromic familial congenital anorectal malformations TTLL9 Eleanor Williams commented on gene: TTLL9
Non-syndromic familial congenital anorectal malformations TNNI3K Eleanor Williams commented on gene: TNNI3K
Non-syndromic familial congenital anorectal malformations TLR1 Eleanor Williams commented on gene: TLR1
Non-syndromic familial congenital anorectal malformations TBC1D4 Eleanor Williams commented on gene: TBC1D4
Non-syndromic familial congenital anorectal malformations STIM1 Eleanor Williams commented on gene: STIM1
Non-syndromic familial congenital anorectal malformations SOX6 Eleanor Williams commented on gene: SOX6
Non-syndromic familial congenital anorectal malformations SOX4 Eleanor Williams commented on gene: SOX4
Non-syndromic familial congenital anorectal malformations SIL1 Eleanor Williams commented on gene: SIL1
Non-syndromic familial congenital anorectal malformations SGCD Eleanor Williams commented on gene: SGCD
Non-syndromic familial congenital anorectal malformations RCSD1 Eleanor Williams commented on gene: RCSD1
Non-syndromic familial congenital anorectal malformations PROK1 Eleanor Williams commented on gene: PROK1
Non-syndromic familial congenital anorectal malformations NLGN1 Eleanor Williams commented on gene: NLGN1
Non-syndromic familial congenital anorectal malformations MPRIP Eleanor Williams commented on gene: MPRIP
Non-syndromic familial congenital anorectal malformations LCA5 Eleanor Williams commented on gene: LCA5
Non-syndromic familial congenital anorectal malformations JAK2 Eleanor Williams commented on gene: JAK2
Non-syndromic familial congenital anorectal malformations INTU Eleanor Williams commented on gene: INTU
Non-syndromic familial congenital anorectal malformations FNBP1 Eleanor Williams commented on gene: FNBP1
Non-syndromic familial congenital anorectal malformations FAM110B Eleanor Williams commented on gene: FAM110B
Non-syndromic familial congenital anorectal malformations ECSIT Eleanor Williams commented on gene: ECSIT
Non-syndromic familial congenital anorectal malformations EAF1 Eleanor Williams commented on gene: EAF1
Non-syndromic familial congenital anorectal malformations DKK4 Eleanor Williams commented on gene: DKK4
Non-syndromic familial congenital anorectal malformations DESI2 Eleanor Williams commented on gene: DESI2
Non-syndromic familial congenital anorectal malformations CTNND2 Eleanor Williams commented on gene: CTNND2
Non-syndromic familial congenital anorectal malformations CDH18 Eleanor Williams commented on gene: CDH18
Non-syndromic familial congenital anorectal malformations AMOTL1 Eleanor Williams commented on gene: AMOTL1
Rare multisystem ciliopathy disorders IFT81 Zornitza Stark reviewed gene: IFT81
Rare multisystem ciliopathy disorders IFT52 Zornitza Stark reviewed gene: IFT52
Rare multisystem ciliopathy disorders IFT43 Zornitza Stark reviewed gene: IFT43
Rare multisystem ciliopathy disorders EXOC3L2 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders DDX59 Zornitza Stark reviewed gene: DDX59
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations WDPCP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TTLL9 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TNNI3K Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TLR1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TBC1D4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations T Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations STIM1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SOX6 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SOX4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SIL1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SGCD Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations RCSD1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations PROK1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TP63 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations NLGN1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations MYH14 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations MPRIP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations LCA5 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations JAK2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations INTU Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations HOXD13 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations HHIP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FNBP1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FAM110B Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations EDNRB Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations ECSIT Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations EAF1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DKK4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DESI2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DKK1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CTNND2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CDX1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CDH18 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations AMOTL1 Eleanor Williams Added gene to panel
Rare multisystem ciliopathy disorders DCDC2 Zornitza Stark reviewed gene: DCDC2
Rare multisystem ciliopathy disorders CEP120 Zornitza Stark reviewed gene: CEP120
Rare multisystem ciliopathy disorders C21orf2 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders ARMC9 Zornitza Stark reviewed gene: ARMC9
Cytopaenias and congenital anaemias EPO Mary Alikian Added gene to panel
Cytopaenias and congenital anaemias ADA2 Mary Alikian Added gene to panel
Intellectual disability ATP1A3 Louise Daugherty reviewed gene: ATP1A3
Intellectual disability ATL1 Louise Daugherty classified ATL1 as Green List (high evidence)
Intellectual disability ATL1 Louise Daugherty classified ATL1 as Green List (high evidence)
Intellectual disability ASS1 Louise Daugherty classified ASS1 as Green List (high evidence)
Intellectual disability APTX Louise Daugherty reviewed gene: APTX
Intellectual disability ALS2 Louise Daugherty edited their review of gene: ALS2
Genetic Epilepsy Syndromes TUBA3E Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes TSEN15 Sarah Leigh classified TSEN15 as Amber List (moderate evidence)
Genetic Epilepsy Syndromes TSEN15 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes SEC24D Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes PCDHB4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes MATN4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes NID1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes INO80 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes DMBX1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services