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Familial non syndromic congenital heart disease v1.89 ISCA-37433-Loss Arina Puzriakova Classified Region: ISCA-37433-Loss as No list
Familial non syndromic congenital heart disease v1.89 ISCA-37433-Loss Arina Puzriakova Region: isca-37433-loss has been removed from the panel.
Familial non syndromic congenital heart disease v1.88 ISCA-37433-Loss Arina Puzriakova Classified Region: ISCA-37433-Loss as Green List (high evidence)
Familial non syndromic congenital heart disease v1.88 ISCA-37433-Loss Arina Puzriakova Added comment: Comment on list classification: This region has been deprecated by ClinGen and therefore has been removed from the panel.

This region has been subsumed into ISCA-37446 which is green on multiple GMS panels including this panel (https://panelapp.genomicsengland.co.uk/panels/entities/ISCA-37446-Loss)

Checked and approved by the Genomics England Clinical team.
Familial non syndromic congenital heart disease v1.88 ISCA-37433-Loss Arina Puzriakova Region: isca-37433-loss has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.87 ISCA-37433-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37433-Loss.
Familial non syndromic congenital heart disease v1.87 HYAL2 Achchuthan Shanmugasundram Phenotypes for gene: HYAL2 were changed from cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
Familial non syndromic congenital heart disease v1.86 HYAL2 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: HYAL2.
Familial non syndromic congenital heart disease v1.86 TBX20 Sarah Leigh Classified gene: TBX20 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.86 TBX20 Sarah Leigh Gene: tbx20 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.85 TBX20 Sarah Leigh Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial non syndromic congenital heart disease v1.84 TBX20 Sarah Leigh reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial non syndromic congenital heart disease v1.84 TBX20 Sarah Leigh Publications for gene: TBX20 were set to 17668378; 19762328; 37657916
Familial non syndromic congenital heart disease v1.83 TBX20 Sarah Leigh Phenotypes for gene: TBX20 were changed from Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654 to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021
Familial non syndromic congenital heart disease v1.82 TBX20 Sarah Leigh Publications for gene: TBX20 were set to 17668378, 19762328
Familial non syndromic congenital heart disease v1.81 TBX20 Sarah Leigh Phenotypes for gene: TBX20 were changed from Atrial septal defect 4 611363 to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654
Familial non syndromic congenital heart disease v1.80 FLT4 Dmitrijs Rots edited their review of gene: FLT4: Added comment: Statistically proven 30582441 enrichment in multiple affected cases. Enough for green rating.; Changed phenotypes to: Congenital heart defect; Set current diagnostic: yes
Familial non syndromic congenital heart disease v1.80 FLT4 Dmitrijs Rots reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30582441; Phenotypes: Congenital; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Loss Arina Puzriakova edited their review of Region: ISCA-37423-Loss: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022).; Changed rating: GREEN
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Gain Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Loss Arina Puzriakova GRCh38 position for ISCA-37423-Loss was changed from 8261773-11908210 to 8242542-11908820.
Familial non syndromic congenital heart disease v1.80 ISCA-37423-Gain Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820.
Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2.
Familial non syndromic congenital heart disease v1.79 GDF1 Arina Puzriakova Phenotypes for gene: GDF1 were changed from Tetralogy of Fallot; Double-outlet right ventricle, 217095; Right atrial isomerism, 208530; Visceral Heterotaxy, Transposition Of The Great Arteries, Dextro-Looped 3 to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530; Tetralogy of Fallot; Double-outlet right ventricle; Right atrial isomerism; Visceral Heterotaxy, Transposition Of The Great Arteries
Familial non syndromic congenital heart disease v1.78 GDF1 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'monoallelic' only to 'both mono- and biallelic' to maintain consistency with other panels (including GMS) where is was determined that the evidence is sufficient, albeit limited, to justify this MOI.
Familial non syndromic congenital heart disease v1.78 GDF1 Arina Puzriakova Mode of inheritance for gene: GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial non syndromic congenital heart disease v1.77 ZFPM2 Arina Puzriakova Mode of inheritance for gene: ZFPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial non syndromic congenital heart disease v1.76 ZFPM2 Arina Puzriakova Phenotypes for gene: ZFPM2 were changed from Tetralogy of Fallot to Tetralogy of Fallot, OMIM:187500
Familial non syndromic congenital heart disease v1.75 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Familial non syndromic congenital heart disease v1.75 MYH6 Ivone Leong Added comment: Comment on mode of inheritance: MOI change dfrom "BIALLELIC, autosomal or pseudoautosomal" to "Both Monoallelic and Biallelic" as Monoallelic variants also cause disease.
Familial non syndromic congenital heart disease v1.75 MYH6 Ivone Leong Mode of inheritance for gene: MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Gain Arina Puzriakova commented on Region: ISCA-37423-Gain
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Loss Arina Puzriakova commented on Region: ISCA-37423-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37434-Loss Arina Puzriakova commented on Region: ISCA-37434-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37501-Loss Arina Puzriakova commented on Region: ISCA-37501-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Familial non syndromic congenital heart disease v1.74 ISCA-37392-Loss Arina Puzriakova commented on Region: ISCA-37392-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37423-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37423-Gain was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37392-Loss Arina Puzriakova GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172.
Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37434-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37501-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to .
Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.73 SPRED2 Ivone Leong Classified gene: SPRED2 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.73 SPRED2 Ivone Leong Added comment: Comment on list classification: There is enough evidence for this gene to be Green.
Familial non syndromic congenital heart disease v1.73 SPRED2 Ivone Leong Gene: spred2 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.72 SPRED2 Ivone Leong Tag Q1_22_rating was removed from gene: SPRED2.
Familial non syndromic congenital heart disease v1.72 SPRED2 Ivone Leong Entity copied from Intellectual disability v3.1496
Familial non syndromic congenital heart disease v1.72 SPRED2 Ivone Leong gene: SPRED2 was added
gene: SPRED2 was added to Familial non syndromic congenital heart disease. Sources: Expert Review Amber,Literature
Q1_22_rating tags were added to gene: SPRED2.
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Familial non syndromic congenital heart disease v1.71 TLL1 Ivone Leong Classified gene: TLL1 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.71 TLL1 Ivone Leong Gene: tll1 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.70 TLL1 Ivone Leong Classified gene: TLL1 as Amber List (moderate evidence)
Familial non syndromic congenital heart disease v1.70 TLL1 Ivone Leong Gene: tll1 has been classified as Amber List (Moderate Evidence).
Familial non syndromic congenital heart disease v1.69 TLL1 Ivone Leong Classified gene: TLL1 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.69 TLL1 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype (limited). There is now enough evidence to support a gene-disease association. This gene should be rated Green.
Familial non syndromic congenital heart disease v1.69 TLL1 Ivone Leong Gene: tll1 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.68 TLL1 Ivone Leong Added comment: Comment on publications: PMID:10331975 is a mouse model. Homozygous mutantsw were embryonic lethal with developmental defects in the heart (incomplete formation of the interventricular septum and an abnormal and novel positioning of the heart and aorta).

PMID:31570783 describes an individual with atrial septal defect with a de novo splice site variant in TLL1. However, the patient also has a variant in NODAL.
Familial non syndromic congenital heart disease v1.68 TLL1 Ivone Leong Publications for gene: TLL1 were set to 18830233; 30538173; 27418595
Familial non syndromic congenital heart disease v1.67 TLL1 Ivone Leong Phenotypes for gene: TLL1 were changed from Atrial septal defect 6 613087 to Atrial septal defect 6, OMIM:613087
Familial non syndromic congenital heart disease v1.66 TLL1 Ivone Leong Publications for gene: TLL1 were set to 18830233
Familial non syndromic congenital heart disease v1.65 TLL1 Dmitrijs Rots reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30538173, 27418595; Phenotypes: Atrial septal defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial non syndromic congenital heart disease v1.65 JAG1 Arina Puzriakova Phenotypes for gene: JAG1 were changed from Tetralogy of Fallot; Alagille syndrome to Alagille syndrome 1, OMIM:118450; Tetralogy of Fallot, OMIM:187500; Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992
Familial non syndromic congenital heart disease v1.64 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Hypoplastic left heart syndrome 1; Hypoplastic Left Heart Syndrome to Hypoplastic left heart syndrome 1, OMIM:241550; Atrioventricular septal defect 3, OMIM:600309
Familial non syndromic congenital heart disease v1.63 FLNA Arina Puzriakova Publications for gene: FLNA were set to 17190868, 8230166
Familial non syndromic congenital heart disease v1.62 FLNA Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'X-LINKED... biallelic mutations in females' to 'X-LINKED... monoallelic mutations in females may cause disease'.

Heterozygous females are more mildly affected than hemizygous males, but some healthy female carriers have also been described.
Familial non syndromic congenital heart disease v1.62 FLNA Arina Puzriakova Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Familial non syndromic congenital heart disease v1.61 FLNA Arina Puzriakova Phenotypes for gene: FLNA were changed from Cardiac valvular dysplasia, X-linked 314400 to Cardiac valvular dysplasia, X-linked, OMIM:314400
Familial non syndromic congenital heart disease v1.60 ADAMTS19 Ivone Leong Classified gene: ADAMTS19 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.60 ADAMTS19 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene is therefore given a Green rating.
Familial non syndromic congenital heart disease v1.60 ADAMTS19 Ivone Leong Gene: adamts19 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.59 ADAMTS19 Ivone Leong Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Non-syndromic heart valve disease; heart valve disease, MONDO:0002869
Familial non syndromic congenital heart disease v1.58 ADAMTS19 Ivone Leong Publications for gene: ADAMTS19 were set to 31844321
Familial non syndromic congenital heart disease v1.57 HYAL2 Eleanor Williams Classified gene: HYAL2 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.57 HYAL2 Eleanor Williams Added comment: Comment on list classification: Promoting to green after further consultation with the Genomics England clinical team. 2 cases which both report a cardiac phenotype, and mouse model which also re-capitulates the cardiac phenotype, so should be rated green.
Familial non syndromic congenital heart disease v1.57 HYAL2 Eleanor Williams Gene: hyal2 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.56 HYAL2 Eleanor Williams Classified gene: HYAL2 as Amber List (moderate evidence)
Familial non syndromic congenital heart disease v1.56 HYAL2 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. 2 cases reported with supporting data from mouse. Cardiac phenotype is not fully penetrant. Awaiting confirmation of further cases before promoting to green.
Familial non syndromic congenital heart disease v1.56 HYAL2 Eleanor Williams Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Familial non syndromic congenital heart disease v1.55 HYAL2 Eleanor Williams changed review comment from: PMID: 28081210 (Muggenthaler et al 2017) report 2 unrelated consanguineous extended families (Amish and Arab) who have an orofacial clefting phenotype but cardiac anomalies are also reported. In pedigree 1 (Amish) 5/5 analysed individuals had cleft lip and palate. 3/5 had congenital cardiac malformations including left cor triatriatum and dilated coronary sinus consistent with persistent left superior vena cava. All had a homzogyous c.443A>G, p.K148R variant which segregated with the disorder in the pedigree. It was found in a heterozygous state at a frequency of 0.013 in the Amish population, but was not found in 1000 Genomes or ExAC databases. In pedigree 2 (Arab) 1/2 analysed individuals had cleft lip and palate and 1/2 had an abnormal mitral valve with accessory tissue. Both were found to have a homozygous c.749C>T; p.P250L variant following whole genome SNP mapping. This variant was found in 2 individuals in the ExAC database in heterozygous state. Transient expression of the patient variants in mouse embryonic fibroblasts showed a large decrease in protein levels compared to wild type. They report that valvular thickening and atrial dilatation are found in all Hyal2-/- mice (PMID: 23172227) and that Cor triatriatum sinister has been detected in 50% of Hyal2-/- mice (PMID: 26515055).
Sources: Literature; to: PMID: 28081210 (Muggenthaler et al 2017) report 2 unrelated consanguineous extended families (Amish and Arab) who have an orofacial clefting phenotype with cardiac anomalies are also reported.

In pedigree 1 (Amish) 5/5 analysed individuals had cleft lip and palate. 3/5 had congenital cardiac malformations including left cor triatriatum and dilated coronary sinus consistent with persistent left superior vena cava. All had a homzogyous c.443A>G, p.K148R variant which segregated with the disorder in the pedigree. It was found in a heterozygous state at a frequency of 0.013 in the Amish population, but was not found in 1000 Genomes or ExAC databases.

In pedigree 2 (Arab) 1/2 analysed individuals had cleft lip and palate and 1/2 had an abnormal mitral valve with accessory tissue. Both were found to have a homozygous c.749C>T; p.P250L variant following whole genome SNP mapping. This variant was found in 2 individuals in the ExAC database in heterozygous state. Transient expression of the patient variants in mouse embryonic fibroblasts showed a large decrease in protein levels compared to wild type.

They report that valvular thickening and atrial dilatation are found in all Hyal2-/- mice (PMID: 23172227) and that Cor triatriatum sinister has been detected in 50% of Hyal2-/- mice (PMID: 26515055).
Sources: Literature
Familial non syndromic congenital heart disease v1.55 HYAL2 Eleanor Williams gene: HYAL2 was added
gene: HYAL2 was added to Familial non syndromic congenital heart disease. Sources: Literature
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Phenotypes for gene: HYAL2 were set to cor triatriatum; congenital cardiac malformations
Review for gene: HYAL2 was set to AMBER
Added comment: PMID: 28081210 (Muggenthaler et al 2017) report 2 unrelated consanguineous extended families (Amish and Arab) who have an orofacial clefting phenotype but cardiac anomalies are also reported. In pedigree 1 (Amish) 5/5 analysed individuals had cleft lip and palate. 3/5 had congenital cardiac malformations including left cor triatriatum and dilated coronary sinus consistent with persistent left superior vena cava. All had a homzogyous c.443A>G, p.K148R variant which segregated with the disorder in the pedigree. It was found in a heterozygous state at a frequency of 0.013 in the Amish population, but was not found in 1000 Genomes or ExAC databases. In pedigree 2 (Arab) 1/2 analysed individuals had cleft lip and palate and 1/2 had an abnormal mitral valve with accessory tissue. Both were found to have a homozygous c.749C>T; p.P250L variant following whole genome SNP mapping. This variant was found in 2 individuals in the ExAC database in heterozygous state. Transient expression of the patient variants in mouse embryonic fibroblasts showed a large decrease in protein levels compared to wild type. They report that valvular thickening and atrial dilatation are found in all Hyal2-/- mice (PMID: 23172227) and that Cor triatriatum sinister has been detected in 50% of Hyal2-/- mice (PMID: 26515055).
Sources: Literature
Familial non syndromic congenital heart disease v1.54 MYH6 Sarah Leigh Publications for gene: MYH6 were set to 15735645, 20656787
Familial non syndromic congenital heart disease v1.53 CTNND1 Eleanor Williams Classified gene: CTNND1 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.53 CTNND1 Eleanor Williams Added comment: Comment on list classification: Rating this gene green, after consultation with Genomics England clinician, as variants in this gene associated with cardiovascular anomalies in 5 families.
Familial non syndromic congenital heart disease v1.53 CTNND1 Eleanor Williams Gene: ctnnd1 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.52 CTNND1 Eleanor Williams gene: CTNND1 was added
gene: CTNND1 was added to Familial non syndromic congenital heart disease. Sources: Literature
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND1 were set to 32196547
Phenotypes for gene: CTNND1 were set to cardiovascular anomalies
Review for gene: CTNND1 was set to GREEN
Added comment: PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).
The cardiovasuclar anomalies were seen in 6 individuals from 5 different families.
Sources: Literature
Familial non syndromic congenital heart disease v1.51 ADAMTS19 Zornitza Stark changed review comment from: 2020 paper reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies. Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype; to: New 2020 paper reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies. Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Familial non syndromic congenital heart disease v1.51 ADAMTS19 Zornitza Stark edited their review of gene: ADAMTS19: Added comment: 2020 paper reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies. Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype; Changed rating: GREEN; Changed publications: 31844321, 32323311
Familial non syndromic congenital heart disease v1.51 ADAMTS19 Zornitza Stark gene: ADAMTS19 was added
gene: ADAMTS19 was added to Familial non syndromic congenital heart disease. Sources: Literature
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321
Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease
Review for gene: ADAMTS19 was set to AMBER
Added comment: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Literature
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Tag missense tag was added to gene: TRAF7.
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Classified gene: TRAF7 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Added comment: Comment on list classification: Rating this gene green as 6 cases reported with missense variants in this gene with heart defects.
Familial non syndromic congenital heart disease v1.51 TRAF7 Eleanor Williams Gene: traf7 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.50 TRAF7 Eleanor Williams gene: TRAF7 was added
gene: TRAF7 was added to Familial non syndromic congenital heart disease. Sources: Literature
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay 618164
Review for gene: TRAF7 was set to GREEN
Added comment: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.

PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains. Prenatal histories were notable for antenatal detection of heart anomalies (n = 3), cystic hygroma (n = 2), and two-vessel cord (n = 2). Congenital heart defects were present in six of seven patients and ranged in type and severity
Sources: Literature
Familial non syndromic congenital heart disease v1.48 Ellen McDonagh Panel types changed to Rare Disease 100K
Familial non syndromic congenital heart disease v1.47 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial non syndromic congenital heart disease v1.46 ABL1 Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Amber to Red based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113.; to: Comment on list classification: Updated rating from Amber to Green based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113.
Familial non syndromic congenital heart disease v1.46 TAB2 Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 nonsense variants reported in unrelated cases.; to: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 nonsense variants reported in unrelated cases.
Watch list tag has been removed as sufficient variants have now been reported.
Familial non syndromic congenital heart disease v1.46 TAB2 Sarah Leigh Classified gene: TAB2 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.46 TAB2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 nonsense variants reported in unrelated cases.
Familial non syndromic congenital heart disease v1.46 TAB2 Sarah Leigh Gene: tab2 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.45 TAB2 Sarah Leigh Tag watchlist was removed from gene: TAB2.
Familial non syndromic congenital heart disease v1.43 TAB2 Ellen McDonagh Publications for gene: TAB2 were set to 20493459, 26139517; 28386937; 28135719
Familial non syndromic congenital heart disease v1.42 TAB2 Ellen McDonagh Publications for gene: TAB2 were set to 20493459, 26139517; 28386937
Familial non syndromic congenital heart disease v1.41 TAB2 Ronnie Wright reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial non syndromic congenital heart disease v1.41 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Familial non syndromic congenital heart disease v1.40 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Familial non syndromic congenital heart disease v1.40 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.39 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Familial non syndromic congenital heart disease. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Familial non syndromic congenital heart disease v1.38 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger commented on gene: ABL1: Added missense tag based on PMID:28288113.
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Tag missense tag was added to gene: ABL1.
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Classified gene: ABL1 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Red based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113.
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.35 ABL1 Rebecca Foulger Phenotypes for gene: ABL1 were changed from Autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations syndrome, 617602
Familial non syndromic congenital heart disease v1.34 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
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
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
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.
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.
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 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
Familial non syndromic congenital heart disease NOTCH2 Rachel Jones marked NOTCH2 as ready
Familial non syndromic congenital heart disease NOTCH2 Rachel Jones classified NOTCH2 as Green List (high evidence)
Familial non syndromic congenital heart disease NOTCH2 Rachel Jones Added gene to panel
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh classified MYH6 as Green List (high evidence)
Familial non syndromic congenital heart disease FLT4 Ellen McDonagh edited their review of FLT4
Familial non syndromic congenital heart disease FLT4 Ellen McDonagh added FLT4 to panel
Familial non syndromic congenital heart disease FLT4 Ellen McDonagh reviewed FLT4
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh edited their review of MYH6
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh edited their review of MYH6
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh reviewed MYH6
Familial non syndromic congenital heart disease TAB2 Ellen McDonagh classified TAB2 as amber
Familial non syndromic congenital heart disease TAB2 Ellen McDonagh reviewed TAB2
Familial non syndromic congenital heart disease SHROOM3 Helen Brittain marked SHROOM3 as ready
Familial non syndromic congenital heart disease SHROOM3 Helen Brittain classified SHROOM3 as amber
Familial non syndromic congenital heart disease RPSA Helen Brittain marked RPSA as ready
Familial non syndromic congenital heart disease MMP21 Helen Brittain marked MMP21 as ready
Familial non syndromic congenital heart disease MMP21 Helen Brittain classified MMP21 as green
Familial non syndromic congenital heart disease LEFTY2 Helen Brittain marked LEFTY2 as ready
Familial non syndromic congenital heart disease LEFTY2 Helen Brittain classified LEFTY2 as amber
Familial non syndromic congenital heart disease CFC1 Helen Brittain marked CFC1 as ready
Familial non syndromic congenital heart disease CFC1 Helen Brittain classified CFC1 as green
Familial non syndromic congenital heart disease CRELD1 Helen Brittain marked CRELD1 as ready
Familial non syndromic congenital heart disease CRELD1 Helen Brittain classified CRELD1 as amber
Familial non syndromic congenital heart disease CFAP53 Helen Brittain marked CFAP53 as ready
Familial non syndromic congenital heart disease CFAP53 Helen Brittain classified CFAP53 as green
Familial non syndromic congenital heart disease ZIC3 Helen Brittain marked ZIC3 as ready
Familial non syndromic congenital heart disease NODAL Helen Brittain marked NODAL as ready
Familial non syndromic congenital heart disease SHROOM3 Helen Brittain reviewed SHROOM3
Familial non syndromic congenital heart disease RPSA Helen Brittain reviewed RPSA
Familial non syndromic congenital heart disease MMP21 Helen Brittain reviewed MMP21
Familial non syndromic congenital heart disease LEFTY2 Helen Brittain reviewed LEFTY2
Familial non syndromic congenital heart disease CFAP53 Helen Brittain reviewed CFAP53
Familial non syndromic congenital heart disease MYH6 Helen Brittain reviewed MYH6
Familial non syndromic congenital heart disease GDF1 Helen Brittain reviewed GDF1
Familial non syndromic congenital heart disease CRELD1 Helen Brittain reviewed CRELD1
Familial non syndromic congenital heart disease CFC1 Helen Brittain reviewed CFC1
Familial non syndromic congenital heart disease ACTC1 Helen Brittain reviewed ACTC1
Familial non syndromic congenital heart disease ZIC3 Helen Brittain reviewed ZIC3
Familial non syndromic congenital heart disease NODAL Helen Brittain reviewed NODAL
Familial non syndromic congenital heart disease ACVR2B Helen Brittain reviewed ACVR2B
Familial non syndromic congenital heart disease TBX5 Rebecca Foulger commented on TBX5
Familial non syndromic congenital heart disease ABL1 Sarah Leigh classified ABL1 as amber
Familial non syndromic congenital heart disease ABL1 Sarah Leigh added ABL1 to panel
Familial non syndromic congenital heart disease ABL1 Sarah Leigh reviewed ABL1
Familial non syndromic congenital heart disease Alice Gardham promoted panel to version 1
Familial non syndromic congenital heart disease NR2F2 Richard Scott classified NR2F2 as green
Familial non syndromic congenital heart disease NR2F2 Richard Scott reviewed NR2F2
Familial non syndromic congenital heart disease CITED2 Richard Scott classified CITED2 as red
Familial non syndromic congenital heart disease CITED2 Richard Scott commented on CITED2
Familial non syndromic congenital heart disease NR2F2 Alice Gardham classified NR2F2 as amber
Familial non syndromic congenital heart disease CITED2 Alice Gardham classified CITED2 as amber
Familial non syndromic congenital heart disease JAG1 Alice Gardham marked JAG1 as ready
Familial non syndromic congenital heart disease FLNA Alice Gardham classified FLNA as green
Familial non syndromic congenital heart disease FLNA Alice Gardham marked FLNA as ready
Familial non syndromic congenital heart disease FLNA Alice Gardham added FLNA to panel
Familial non syndromic congenital heart disease FLNA Alice Gardham reviewed FLNA
Familial non syndromic congenital heart disease NKX2-6 Alice Gardham marked NKX2-6 as ready
Familial non syndromic congenital heart disease NKX2-6 Alice Gardham added NKX2-6 to panel
Familial non syndromic congenital heart disease NKX2-6 Alice Gardham reviewed NKX2-6
Familial non syndromic congenital heart disease TLL1 Alice Gardham marked TLL1 as ready
Familial non syndromic congenital heart disease TLL1 Alice Gardham added TLL1 to panel
Familial non syndromic congenital heart disease TLL1 Alice Gardham reviewed TLL1
Familial non syndromic congenital heart disease PLXND1 Alice Gardham classified PLXND1 as red
Familial non syndromic congenital heart disease PLXND1 Alice Gardham marked PLXND1 as ready
Familial non syndromic congenital heart disease PLXND1 Alice Gardham added PLXND1 to panel
Familial non syndromic congenital heart disease PLXND1 Alice Gardham reviewed PLXND1
Familial non syndromic congenital heart disease TAB2 Alice Gardham marked TAB2 as ready
Familial non syndromic congenital heart disease TAB1 Alice Gardham added TAB1 to panel
Familial non syndromic congenital heart disease TAB1 Alice Gardham reviewed TAB1
Familial non syndromic congenital heart disease NR2F2 Alice Gardham added NR2F2 to panel
Familial non syndromic congenital heart disease NR2F2 Alice Gardham reviewed NR2F2
Familial non syndromic congenital heart disease SMAD6 Alice Gardham marked SMAD6 as ready
Familial non syndromic congenital heart disease SMAD6 Alice Gardham added SMAD6 to panel
Familial non syndromic congenital heart disease SMAD6 Alice Gardham reviewed SMAD6
Familial non syndromic congenital heart disease CITED2 Alice Gardham added CITED2 to panel
Familial non syndromic congenital heart disease CITED2 Alice Gardham reviewed CITED2
Familial non syndromic congenital heart disease IRX4 Alice Gardham marked IRX4 as ready
Familial non syndromic congenital heart disease IRX4 Alice Gardham added IRX4 to panel
Familial non syndromic congenital heart disease IRX4 Alice Gardham reviewed IRX4
Familial non syndromic congenital heart disease NOTCH1 Alice Gardham added NOTCH1 to panel
Familial non syndromic congenital heart disease NOTCH1 Alice Gardham reviewed NOTCH1
Familial non syndromic congenital heart disease FOXH1 Alice Gardham marked FOXH1 as ready
Familial non syndromic congenital heart disease FOXH1 Alice Gardham added FOXH1 to panel
Familial non syndromic congenital heart disease FOXH1 Alice Gardham reviewed FOXH1
Familial non syndromic congenital heart disease MYH6 Alice Gardham added MYH6 to panel
Familial non syndromic congenital heart disease MYH6 Alice Gardham reviewed MYH6
Familial non syndromic congenital heart disease ACTC1 Alice Gardham added ACTC1 to panel
Familial non syndromic congenital heart disease ACTC1 Alice Gardham reviewed ACTC1
Familial non syndromic congenital heart disease TBX20 Alice Gardham classified TBX20 as amber
Familial non syndromic congenital heart disease TBX20 Alice Gardham added TBX20 to panel
Familial non syndromic congenital heart disease TBX20 Alice Gardham reviewed TBX20
Familial non syndromic congenital heart disease CRELD1 Alice Gardham marked CRELD1 as ready
Familial non syndromic congenital heart disease CRELD1 Alice Gardham added CRELD1 to panel
Familial non syndromic congenital heart disease CRELD1 Alice Gardham reviewed CRELD1
Familial non syndromic congenital heart disease TBX5 Alice Gardham marked TBX5 as ready
Familial non syndromic congenital heart disease TBX5 Alice Gardham added TBX5 to panel
Familial non syndromic congenital heart disease TBX5 Alice Gardham reviewed TBX5
Familial non syndromic congenital heart disease ELN Alice Gardham marked ELN as ready
Familial non syndromic congenital heart disease ELN Alice Gardham added ELN to panel
Familial non syndromic congenital heart disease ELN Alice Gardham reviewed ELN
Familial non syndromic congenital heart disease NKX2-5 Alice Gardham marked NKX2-5 as ready
Familial non syndromic congenital heart disease GATA4 Alice Gardham marked GATA4 as ready
Familial non syndromic congenital heart disease ZFPM2 Alice Gardham marked ZFPM2 as ready
Familial non syndromic congenital heart disease ZFPM2 Alice Gardham commented on ZFPM2
Familial non syndromic congenital heart disease TBX1 Alice Gardham commented on TBX1
Familial non syndromic congenital heart disease TBX1 Alice Gardham marked TBX1 as ready
Familial non syndromic congenital heart disease SEMA3D Alice Gardham marked SEMA3D as ready
Familial non syndromic congenital heart disease SEMA3D Alice Gardham reviewed SEMA3D
Familial non syndromic congenital heart disease NFATC1 Alice Gardham marked NFATC1 as ready
Familial non syndromic congenital heart disease NFATC1 Alice Gardham reviewed NFATC1
Familial non syndromic congenital heart disease MYOM2 Alice Gardham marked MYOM2 as ready
Familial non syndromic congenital heart disease MYOM2 Alice Gardham reviewed MYOM2
Familial non syndromic congenital heart disease MED13L Alice Gardham marked MED13L as ready
Familial non syndromic congenital heart disease MED13L Alice Gardham commented on MED13L
Familial non syndromic congenital heart disease JAG1 Alice Gardham marked JAG1 as ready
Familial non syndromic congenital heart disease JAG1 Alice Gardham classified JAG1 as green
Familial non syndromic congenital heart disease JAG1 Alice Gardham commented on JAG1
Familial non syndromic congenital heart disease HAND2 Alice Gardham marked HAND2 as ready
Familial non syndromic congenital heart disease HAND2 Alice Gardham reviewed HAND2
Familial non syndromic congenital heart disease GDF1 Alice Gardham marked GDF1 as ready
Familial non syndromic congenital heart disease GDF1 Alice Gardham classified GDF1 as green
Familial non syndromic congenital heart disease GDF1 Alice Gardham commented on GDF1
Familial non syndromic congenital heart disease GATA6 Alice Gardham marked GATA6 as ready
Familial non syndromic congenital heart disease GATA6 Alice Gardham classified GATA6 as green
Familial non syndromic congenital heart disease GATA6 Alice Gardham commented on GATA6
Familial non syndromic congenital heart disease GATA5 Alice Gardham classified GATA5 as amber
Familial non syndromic congenital heart disease GATA5 Alice Gardham reviewed GATA5
Familial non syndromic congenital heart disease FOXL1 Alice Gardham marked FOXL1 as ready
Familial non syndromic congenital heart disease FOXL1 Alice Gardham reviewed FOXL1
Familial non syndromic congenital heart disease DISP1 Alice Gardham marked DISP1 as ready
Familial non syndromic congenital heart disease CRKL Alice Gardham marked CRKL as ready
Familial non syndromic congenital heart disease CRKL Alice Gardham commented on CRKL
Familial non syndromic congenital heart disease CFC1 Alice Gardham marked CFC1 as ready
Familial non syndromic congenital heart disease CFC1 Alice Gardham commented on CFC1
Familial non syndromic congenital heart disease Ellen McDonagh approved panel
Familial non syndromic congenital heart disease GJA1 Ellen McDonagh marked GJA1 as ready
Familial non syndromic congenital heart disease ALDH1A2 Ellen McDonagh marked ALDH1A2 as ready