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| Hydrops fetalis v0.316 | ANGPT2 |
Zornitza Stark gene: ANGPT2 was added gene: ANGPT2 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ANGPT2 were set to 32908006; 34876502 Phenotypes for gene: ANGPT2 were set to Lymphatic malformation-10, MIM#619369; Primary lymphoedema Hydrops Review for gene: ANGPT2 was set to GREEN Added comment: Mono-allelic disease: association with lymphoedema in 5 unrelated individuals PMID 32908006 Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents. Sources: Expert list |
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| Hydrops fetalis v0.301 | BICD2 |
Ee Ming Wong changed review comment from: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. Sources: Literature; to: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual was not determined to have hydrops. Sources: Literature |
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| Hydrops fetalis v0.300 | BICD2 |
Ee Ming Wong gene: BICD2 was added gene: BICD2 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 37173812 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant 2B, prenatal-onset (MIM#609797) Review for gene: BICD2 was set to AMBER gene: BICD2 was marked as current diagnostic Added comment: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. Sources: Literature |
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| Hydrops fetalis v0.244 | MDFIC |
Belinda Chong gene: MDFIC was added gene: MDFIC was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to 35235341 Phenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193 Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax. Sources: Literature |
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| Hydrops fetalis v0.185 | ALPK3 |
Zornitza Stark gene: ALPK3 was added gene: ALPK3 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to 26846950 Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Review for gene: ALPK3 was set to AMBER Added comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950. Sources: Expert list |
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| Hydrops fetalis v0.163 | GDF2 |
Zornitza Stark changed review comment from: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT. Sources: Literature; to: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT/PAH. Sources: Literature |
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| Hydrops fetalis v0.163 | GDF2 |
Zornitza Stark gene: GDF2 was added gene: GDF2 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops Review for gene: GDF2 was set to RED Added comment: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT. Sources: Literature |
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| Hydrops fetalis v0.138 | KDM6A |
Zornitza Stark gene: KDM6A was added gene: KDM6A was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: KDM6A was set to Other Publications for gene: KDM6A were set to 27568880 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867 Review for gene: KDM6A was set to RED Added comment: Reports of hydrops in KMT2D-related Kabuki syndrome, however no specific reports of hydrops in individuals with KDM6A-related Kabuki, XLD. Sources: Expert list |
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| Hydrops fetalis v0.74 | KIAA0586 | Zornitza Stark Added comment: Comment on list classification: Only one individual with hydrops from a series of 8; emerging gene, phenotype yet to be delineated. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.73 | IDUA | Zornitza Stark Phenotypes for gene: IDUA were changed from Hurler syndrome, MPS 1 to Hurler syndrome, MPS 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.73 | IDUA | Zornitza Stark Marked gene: IDUA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.73 | IDUA | Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.73 | IDUA | Zornitza Stark Phenotypes for gene: IDUA were changed from to Hurler syndrome, MPS 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.72 | IDUA | Zornitza Stark Publications for gene: IDUA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.71 | IDUA | Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.70 | IDUA | Zornitza Stark Classified gene: IDUA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.70 | IDUA | Zornitza Stark Gene: idua has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.69 | IDUA | Zornitza Stark reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Hurler syndrome, MPS 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.9 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 26453364; 31420886 Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776 Review for gene: ALG9 was set to GREEN Added comment: Hydrops reported in 20% of individuals in a review. Sources: Expert list |
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| Hydrops fetalis v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDUA was set to Unknown |
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