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Fetal hydrops v1.64 FZD6 Irina Adamena gene: FZD6 was added
gene: FZD6 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: FZD6 was set to Unknown
Publications for gene: FZD6 were set to PMID: 33082562
Phenotypes for gene: FZD6 were set to Nonimmune hydrops fetalis
Review for gene: FZD6 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 GLMN Irina Adamena gene: GLMN was added
gene: GLMN was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLMN were set to PMID: 33082562
Phenotypes for gene: GLMN were set to Nonimmune hydrops fetalis
Review for gene: GLMN was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 ITGA9 Irina Adamena gene: ITGA9 was added
gene: ITGA9 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: ITGA9 was set to Unknown
Publications for gene: ITGA9 were set to PMID: 33082562
Phenotypes for gene: ITGA9 were set to Nonimmune hydrops fetalis
Review for gene: ITGA9 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 CANT1 Irina Adamena gene: CANT1 was added
gene: CANT1 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CANT1 were set to PMID: 33082562
Phenotypes for gene: CANT1 were set to Nonimmune hydrops fetalis
Review for gene: CANT1 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 PTH1R Irina Adamena reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 GPI Irina Adamena gene: GPI was added
gene: GPI was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPI were set to PMID: 33082562
Phenotypes for gene: GPI were set to Nonimmune hydrops fetalis
Review for gene: GPI was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 G6PD Irina Adamena gene: G6PD was added
gene: G6PD was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: G6PD were set to PMID: 33082562
Phenotypes for gene: G6PD were set to Nonimmune hydrops fetalis
Review for gene: G6PD was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 RPL15 Irina Adamena gene: RPL15 was added
gene: RPL15 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to PMID: 33082562
Phenotypes for gene: RPL15 were set to Nonimmune hydrops fetalis
Review for gene: RPL15 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 PRF1 Irina Adamena gene: PRF1 was added
gene: PRF1 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to PMID: 33082562
Phenotypes for gene: PRF1 were set to Nonimmune hydrops fetalis
Review for gene: PRF1 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 GATA1 Irina Adamena reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal hydrops v1.64 SEC23B Irina Adamena gene: SEC23B was added
gene: SEC23B was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to PMID: 33082562
Phenotypes for gene: SEC23B were set to Nonimmune hydrops fetalis
Review for gene: SEC23B was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 CDAN1 Irina Adamena reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 SPTB Irina Adamena gene: SPTB was added
gene: SPTB was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTB were set to PMID: 33082562
Phenotypes for gene: SPTB were set to Nonimmune hydrops fetalis
Review for gene: SPTB was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 SLC4A1 Irina Adamena gene: SLC4A1 was added
gene: SLC4A1 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC4A1 were set to PMID: 33082562
Phenotypes for gene: SLC4A1 were set to Nonimmune hydrops fetalis
Review for gene: SLC4A1 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 SGPL1 Irina Adamena reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 GBE1 Irina Adamena reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 MT-TL1 Irina Adamena gene: MT-TL1 was added
gene: MT-TL1 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to PMID: 33082562
Phenotypes for gene: MT-TL1 were set to Nonimmune hydrops fetalis
Review for gene: MT-TL1 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 MT-TE Irina Adamena gene: MT-TE was added
gene: MT-TE was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to PMID: 33082562
Phenotypes for gene: MT-TE were set to Nonimmune hydrops fetalis
Review for gene: MT-TE was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 MVK Irina Adamena reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 MGAT2 Irina Adamena gene: MGAT2 was added
gene: MGAT2 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to PMID: 33082562
Phenotypes for gene: MGAT2 were set to Nonimmune hydrops fetalis
Review for gene: MGAT2 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 SLC17A5 Irina Adamena reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 GLB1 Irina Adamena reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 GUSB Irina Adamena reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 GALNS Irina Adamena reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 SCN5A Irina Adamena gene: SCN5A was added
gene: SCN5A was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to PMID: 33082562
Phenotypes for gene: SCN5A were set to Nonimmune hydrops fetalis
Review for gene: SCN5A was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 KCNH2 Irina Adamena gene: KCNH2 was added
gene: KCNH2 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to PMID: 33082562
Phenotypes for gene: KCNH2 were set to Nonimmune hydrops fetalis
Review for gene: KCNH2 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 ALPK3 Irina Adamena gene: ALPK3 was added
gene: ALPK3 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to PMID: 33082562
Phenotypes for gene: ALPK3 were set to Nonimmune hydrops fetalis
Review for gene: ALPK3 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 MYH7 Irina Adamena gene: MYH7 was added
gene: MYH7 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH7 were set to PMID: 33082562
Phenotypes for gene: MYH7 were set to Nonimmune hydrops fetalis
Review for gene: MYH7 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 LAMB2 Irina Adamena gene: LAMB2 was added
gene: LAMB2 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to PMID: 33082562
Phenotypes for gene: LAMB2 were set to Nonimmune hydrops fetalis
Review for gene: LAMB2 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 CDC42 Irina Adamena gene: CDC42 was added
gene: CDC42 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to PMID: 33082562
Phenotypes for gene: CDC42 were set to Nonimmune hydrops fetalis
Review for gene: CDC42 was set to GREEN
Added comment: Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Fetal hydrops v1.64 SLC30A5 Irina Adamena changed review comment from: Four affected children with homozygous loss of function variants in SLC30A5 gene with cardiomyopathy, hydrops fetalis, or cystic hygroma.; to: Four affected children with homozygous loss of function variants in SLC30A5 gene with cardiomyopathy, hydrops fetalis, or cystic hygroma (PMID: 33547425).
Fetal hydrops v1.64 ANGPT2 Irina Adamena reviewed gene: ANGPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34876502; Phenotypes: Hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 SLC30A5 Irina Adamena reviewed gene: SLC30A5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33547425; Phenotypes: hydrops fetalis, cardiomyopathy, cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.64 CCBE1 Arina Puzriakova Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome 1, 235510; generalised lymphatic dysplasia; fetal hydrops to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510; generalised lymphatic dysplasia; fetal hydrops
Fetal hydrops v1.63 PKLR Arina Puzriakova Classified gene: PKLR as Green List (high evidence)
Fetal hydrops v1.63 PKLR Arina Puzriakova Added comment: Comment on list classification: Rating Green as non-immune hydrops fetalis reported in multiple cases of Pyruvate kinase deficiency.

Green rating also inline with classification on equivalent GMS panel R21 Fetal anomalies (v3.0).
Fetal hydrops v1.63 PKLR Arina Puzriakova Gene: pklr has been classified as Green List (High Evidence).
Fetal hydrops v1.62 PKLR Arina Puzriakova Phenotypes for gene: PKLR were changed from Pyruvate Kinase deficiency to Pyruvate kinase deficiency, OMIM:266200
Fetal hydrops v1.61 EPHB4 Arina Puzriakova Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal hydrops v1.60 EPHB4 Arina Puzriakova Phenotypes for gene: EPHB4 were changed from Lymphatic malformation 7, MIM#617300 to Lymphatic malformation 7, OMIM:617300
Fetal hydrops v1.59 EPHB4 Arina Puzriakova Classified gene: EPHB4 as Green List (high evidence)
Fetal hydrops v1.59 EPHB4 Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence to support hydrops fetalis association as part of MIM:617300, with 3 variants listed in OMIM from 3 families, each with multiple affected individuals (PMIDs: 27400125 and 29905864). Already Green on Fetal anomalies GMS panel.
Fetal hydrops v1.59 EPHB4 Arina Puzriakova Gene: ephb4 has been classified as Green List (High Evidence).
Fetal hydrops v1.58 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Fetal hydrops v1.58 PEX6 Achchuthan Shanmugasundram Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal hydrops v1.57 HBA2 Arina Puzriakova Phenotypes for gene: HBA2 were changed from HYDROPS FETALIS, NONIMMUNE, 236750; NIHF; HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED; Hemoglobin H disease, nondeletional, 613978; HEMOGLOBIN H HYDROPS FETALIS SYNDROME; Thalassemia, alpha-, 604131; Alpha thalassaemia; Hb H disease to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome
Fetal hydrops v1.56 HBA1 Arina Puzriakova Phenotypes for gene: HBA1 were changed from HYDROPS FETALIS, NONIMMUNE, 236750; NIHF; HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED; Hemoglobin H disease, nondeletional, 613978; Hb H disease; HEMOGLOBIN H HYDROPS FETALIS SYNDROME; Thalassemia, alpha-, 604131; Alpha thalassaemia; alpha thalassaemia major; Hb Bart's to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome
Fetal hydrops v1.55 PEX6 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for PEX6 has been set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230.; to: Comment on mode of inheritance: The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230.
Fetal hydrops v1.55 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Fetal hydrops v1.55 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Fetal hydrops v1.55 GBA Sarah Leigh commented on gene: GBA
Fetal hydrops v1.55 PEX6 Sarah Leigh changed review comment from: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.; to: Comment on mode of inheritance: The mode of inheritance for PEX6 has been set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted for this gene, in order to highlight that unaffected parents may also carry rs61753230.
Fetal hydrops v1.55 TAZ Arina Puzriakova commented on gene: TAZ
Fetal hydrops v1.55 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Fetal hydrops v1.55 EHBP1L1 Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1.
Fetal hydrops v1.55 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to Complete
Fetal hydrops v1.54 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal hydrops v1.54 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 20033294; 23137060
Fetal hydrops v1.53 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Fetal hydrops v1.53 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.52 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Fetal hydrops v1.52 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Zellweger, peroxisome biogenesis disorder 4A, 4B; Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863 to Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
Fetal hydrops v1.51 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
Fetal hydrops v1.50 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal hydrops v1.48 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review Red was added to STR: DMPK_CTG.
Source NHS GMS was added to STR: DMPK_CTG.
Fetal hydrops v1.47 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from hydrops fetalis due to congenital dyserythropoietic anemia (CDA); hydrops fetalis-associated anemia to Dyserythropoietic anemia, congenital, type IV, OMIM:613673; Hydrops Fetalis
Fetal hydrops v1.46 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Mevalonic aciduria, MIM#610377 to Mevalonic aciduria, OMIM:610377
Fetal hydrops v1.45 ANGPT2 Sarah Leigh Tag for-review was removed from gene: ANGPT2.
Fetal hydrops v1.45 ANGPT2 Sarah Leigh Classified gene: ANGPT2 as Amber List (moderate evidence)
Fetal hydrops v1.45 ANGPT2 Sarah Leigh Added comment: Comment on list classification: One biallelic variant in four sibblings in a single family with severe early-onset non-immune hydrops fetalis (pmid 34876502).
Fetal hydrops v1.45 ANGPT2 Sarah Leigh Gene: angpt2 has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.45 ANGPT2 Sarah Leigh Classified gene: ANGPT2 as Amber List (moderate evidence)
Fetal hydrops v1.45 ANGPT2 Sarah Leigh Added comment: Comment on list classification: One biallelic variant in four sibblings in a single family with severe early-onset non-immune hydrops fetalis (pmid 34876502).
Fetal hydrops v1.45 ANGPT2 Sarah Leigh Gene: angpt2 has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.44 ANGPT2 Sarah Leigh Entity copied from Primary lymphoedema v2.23
Fetal hydrops v1.44 ANGPT2 Sarah Leigh gene: ANGPT2 was added
gene: ANGPT2 was added to Fetal hydrops. Sources: Expert Review Amber,Literature
for-review tags were added to gene: ANGPT2.
Mode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPT2 were set to 32908006; 34876502
Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Fetal hydrops v1.43 PIEZO1 Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III, 616843; LMPH3; Hereditary lymphoedema type III; 2nd trimester fetal hydrops, Nuchal translucency likely to be normal, Lethal and non lethal cases within the same family to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Lymphatic malformation 6, OMIM:616843; Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Fetal hydrops v1.42 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Fetal hydrops v1.41 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 160900; DM1; Myotonic dystrophy, congenital onset associated with a high triplet repeat number to Myotonic dystrophy 1, OMIM:160900
Fetal hydrops v1.40 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Fetal hydrops v1.40 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Fetal hydrops v1.39 EHBP1L1 Sarah Leigh Publications for gene: EHBP1L1 were set to 34645488
Fetal hydrops v1.38 EHBP1L1 Sarah Leigh edited their review of gene: EHBP1L1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least two variants reported in two unrelated families with non-immune hydrops fetalis (NIHF) resulting in recurrent fetal loss. Two Ehbp1l1−/− mouse models shared phenotypic features with the affected patients, including early death, abnormal intestinal microvilli, subcutaneous edema, perimembraneous ventricular septic defect, and thin myocardium (PMID 26833786, https://dmdd.org.uk/mutants/Ehbp1l1).; Changed rating: GREEN
Fetal hydrops v1.38 EHBP1L1 Sarah Leigh Publications for gene: EHBP1L1 were set to PMID: 34645488
Fetal hydrops v1.37 EHBP1L1 Sarah Leigh Phenotypes for gene: EHBP1L1 were changed from Non immune hydrops to non-immune hydrops fetalis MONDO:0009369
Fetal hydrops v1.36 EHBP1L1 Sarah Leigh Classified gene: EHBP1L1 as Amber List (moderate evidence)
Fetal hydrops v1.36 EHBP1L1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal hydrops v1.36 EHBP1L1 Sarah Leigh Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.35 EHBP1L1 Dmitrijs Rots gene: EHBP1L1 was added
gene: EHBP1L1 was added to Fetal hydrops. Sources: Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to PMID: 34645488
Phenotypes for gene: EHBP1L1 were set to Non immune hydrops
Penetrance for gene: EHBP1L1 were set to unknown
Review for gene: EHBP1L1 was set to GREEN
Added comment: 2 families with confirming mouse data
Sources: Literature
Fetal hydrops v1.35 KMT2D Arina Puzriakova Classified gene: KMT2D as Green List (high evidence)
Fetal hydrops v1.35 KMT2D Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There are sufficient unrelated cases with prenatal hydrops and variants in this gene to rate as Green on this panel. KMT2D is also already Green on the GMS Fetal anomalies (R21) panel.
Fetal hydrops v1.35 KMT2D Arina Puzriakova Gene: kmt2d has been classified as Green List (High Evidence).
Fetal hydrops v1.34 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500; GSD4; Fetal hydrops (in perinatal or congenital neuromuscular forms); Andersen disease to Glycogen storage disease IV, OMIM:232500; Fetal hydrops (in perinatal or congenital neuromuscular forms)
Fetal hydrops v1.33 ALG8 Arina Puzriakova Classified gene: ALG8 as Green List (high evidence)
Fetal hydrops v1.33 ALG8 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There are sufficient unrelated cases with prenatal hydrops and variants in this gene to rate as Green on this panel. ALG8 is also already Green on the GMS Fetal anomalies (R21) panel.
Fetal hydrops v1.33 ALG8 Arina Puzriakova Gene: alg8 has been classified as Green List (High Evidence).
Fetal hydrops v1.32 ALG1 Arina Puzriakova Publications for gene: ALG1 were set to 9762608; 14973778
Fetal hydrops v1.31 ALG1 Arina Puzriakova Classified gene: ALG1 as Red List (low evidence)
Fetal hydrops v1.31 ALG1 Arina Puzriakova Added comment: Comment on list classification: Only a single individual reported to date with prenatal hydrops and so will maintain the current Red rating on this panel. However, ALG1 is already Green on the GMS Fetal anomalies panel so cases should still be picked up via that route.
Fetal hydrops v1.31 ALG1 Arina Puzriakova Gene: alg1 has been classified as Red List (Low Evidence).
Fetal hydrops v1.30 ALG1 Arina Puzriakova Mode of inheritance for gene: ALG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.29 SLC30A5 Ivone Leong Entity copied from Cardiomyopathies - including childhood onset v1.45
Fetal hydrops v1.29 SLC30A5 Ivone Leong gene: SLC30A5 was added
gene: SLC30A5 was added to Fetal hydrops. Sources: Literature,Expert Review Amber
watchlist tags were added to gene: SLC30A5.
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919
Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy; cardiomyopathy, MONDO:0004994
Fetal hydrops v1.28 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; HLASA to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Fetal hydrops v1.27 LARS2 Arina Puzriakova Publications for gene: LARS2 were set to 26537577
Fetal hydrops v1.26 LARS2 Arina Puzriakova Classified gene: LARS2 as Green List (high evidence)
Fetal hydrops v1.26 LARS2 Arina Puzriakova Added comment: Comment on list classification: Promoted from Red to Green as there is now a sufficient number of unrelated cases (3) with evidence of fetal hydrops due to biallelic variants in this gene.
Fetal hydrops v1.26 LARS2 Arina Puzriakova Gene: lars2 has been classified as Green List (High Evidence).
Fetal hydrops v1.25 LARS2 Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Classified gene: CDAN1 as Green List (high evidence)
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Added comment: Comment on list classification: Fetal-onset congenital dyserythropoietic anemia type 1 due to biallelic CDAN1 variants can present in utero with hydrops fetalis. Sufficient cases to ascertain causation.
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Gene: cdan1 has been classified as Green List (High Evidence).
Fetal hydrops v1.24 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal hydrops v1.23 AHCY Arina Puzriakova Classified gene: AHCY as Green List (high evidence)
Fetal hydrops v1.23 AHCY Arina Puzriakova Added comment: Comment on list classification: Updated rating from Amber to Green based on additional 2020 paper (PMID:31957987) which reports an infant with foetal hydrops - taking the total number of families to three.
Fetal hydrops v1.23 AHCY Arina Puzriakova Gene: ahcy has been classified as Green List (High Evidence).
Fetal hydrops v1.22 AHCY Arina Puzriakova reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: 31957987; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.22 LARS2 Zornitza Stark edited their review of gene: LARS2: Set current diagnostic: yes
Fetal hydrops v1.22 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.22 PSAT1 Rebecca Foulger Classified gene: PSAT1 as Red List (low evidence)
Fetal hydrops v1.22 PSAT1 Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Fetal cases in Neu-Laxova syndrome (MIM:616038) in PMID:25152457 and 31903955 but not necessarily hydrops. Therefore rated Red awaiting further cases with hydrops.
Fetal hydrops v1.22 PSAT1 Rebecca Foulger Gene: psat1 has been classified as Red List (Low Evidence).
Fetal hydrops v1.21 ATP1A2 Rebecca Foulger Classified gene: ATP1A2 as Amber List (moderate evidence)
Fetal hydrops v1.21 ATP1A2 Rebecca Foulger Added comment: Comment on list classification: Added to panel by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families with Fetal hydrops reported in PMID:30690204 (3 individuals). Therefore phenotype is relevant to panel, and rated Amber awaiting further cases.
Fetal hydrops v1.21 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.20 ATP1A2 Rebecca Foulger commented on gene: ATP1A2
Fetal hydrops v1.20 ALG9 Rebecca Foulger Classified gene: ALG9 as Amber List (moderate evidence)
Fetal hydrops v1.20 ALG9 Rebecca Foulger Added comment: Comment on list classification: ALG9 added to panel and rated Green by Zornitza Stark. Although there are 3 families from the literature with hydrops, and there is evidence linking congenital disorders of glycosylation to NIHF, the phenotype is inconsistent. In PMID:26453364, 1/10 patients was reported with hydrops: 3 cousins did not have Hydrops reported despite harbouring the same p.E530K variant. PMID:31420886 report 3/15 ALG9 families with NIHF. Therefore rated Amber awaiting clinical review.
Fetal hydrops v1.20 ALG9 Rebecca Foulger Gene: alg9 has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.19 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. Paitient IV:3/patient4 (a male cousin of the index patient) presented with nonimmune hydrops fetalis diagnosed by fetal US at 28 weeks, and a novel homozygous variant p.E350K in the ALG9 gene.
Fetal hydrops v1.19 ALG9 Rebecca Foulger commented on gene: ALG9
Fetal hydrops v1.19 AHCY Rebecca Foulger Phenotypes for gene: AHCY were changed from Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; S-adenosylhomocysteine hydrolase deficiency; AHCY deficiency to non-immune hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; S-adenosylhomocysteine hydrolase deficiency; AHCY deficiency
Fetal hydrops v1.18 AHCY Rebecca Foulger Classified gene: AHCY as Amber List (moderate evidence)
Fetal hydrops v1.18 AHCY Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber based on additional 2018 paper highlighted by Zornitza Stark (PMID:30121674) which reports an infant with non-immune hydrops. This takes total number of families to two.
Fetal hydrops v1.18 AHCY Rebecca Foulger Gene: ahcy has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.17 AHCY Rebecca Foulger commented on gene: AHCY: PMID:30121674. Judkins et al., 2018 report an infant with a prenatal diagnosis of non-immune hydrops. The infant was born with phenotypes including hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension. Life support was withdrawn at 7 days. Novel compound het variants in the AHCY were found. Full text not available.
Fetal hydrops v1.17 AHCY Rebecca Foulger Publications for gene: AHCY were set to 23137060; 20852937
Fetal hydrops v1.16 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 29549173; 8285758; 10923218
Phenotypes for gene: PKLR were set to Pyruvate Kinase deficiency
Review for gene: PKLR was set to GREEN
gene: PKLR was marked as current diagnostic
Added comment: PMID 29549173:
A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%.
Sources: Expert list
Fetal hydrops v1.16 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 3975110; 9268097; 8723092
Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Review for gene: PTH1R was set to GREEN
gene: PTH1R was marked as current diagnostic
Added comment: PMID 3975110
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
PMID 9268097
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
PMID 8723092:
Both fetuses hydropic, one grossly so.
Sources: Expert list
Fetal hydrops v1.16 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 29476731; 31598953
Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
Review for gene: TAZ was set to GREEN
gene: TAZ was marked as current diagnostic
Added comment: Cardiomyopathy is a recognised feature and hydrops has been described in case reports.
Sources: Expert list
Fetal hydrops v1.16 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to 28543167; 26932181
Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Multiple pterygium syndrome
Review for gene: RYR1 was set to GREEN
gene: RYR1 was marked as current diagnostic
Added comment: Severe end of spectrum of RYR1-related disorders can present antenatally, including with hydrops.
Sources: Expert list
Fetal hydrops v1.16 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 30838783; 27475004
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038
Review for gene: PSAT1 was set to AMBER
gene: PSAT1 was marked as current diagnostic
Added comment: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Sources: Expert list
Fetal hydrops v1.16 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 11895570; 11494295
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520
Review for gene: PHGDH was set to GREEN
gene: PHGDH was marked as current diagnostic
Added comment: Oedema/hydrops is a presenting feature antenatally.
Sources: Expert list
Fetal hydrops v1.16 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807
Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM#610377
Review for gene: MVK was set to GREEN
gene: MVK was marked as current diagnostic
Added comment: Reports of severe prenatal presentations with hydrops for this metabolic condition.
Sources: Expert list
Fetal hydrops v1.16 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUSK were set to 31750350; 25537362
Phenotypes for gene: MUSK were set to Fetal akinesia deformation sequence 1, MIM# 208150
Review for gene: MUSK was set to GREEN
gene: MUSK was marked as current diagnostic
Added comment: Hydrops/oedema reported in a number of affected individuals with this fetal akinesia condition.
Sources: Expert list
Fetal hydrops v1.16 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 30293990; 27568880; 15690368
Phenotypes for gene: KMT2D were set to Kabuki syndrome
Review for gene: KMT2D was set to GREEN
gene: KMT2D was marked as current diagnostic
Added comment: There are reports of hydrops fetalis in Kabuki syndrome.
Sources: Expert list
Fetal hydrops v1.16 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL40 were set to 25721947
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Review for gene: KLHL40 was set to AMBER
Added comment: Gene causes fetal akinesia, however can only find one specific report of hydrops.
Sources: Expert list
Fetal hydrops v1.16 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180
Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835
Review for gene: GATA1 was set to GREEN
gene: GATA1 was marked as current diagnostic
Added comment: Can present with severe hydrops in utero requiring transfusion.
Sources: Expert list
Fetal hydrops v1.16 EPHB4 Zornitza Stark gene: EPHB4 was added
gene: EPHB4 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: EPHB4 were set to 2990564; 27400125
Phenotypes for gene: EPHB4 were set to Lymphatic malformation 7, MIM#617300
Review for gene: EPHB4 was set to GREEN
gene: EPHB4 was marked as current diagnostic
Added comment: Three unrelated families reported, hydrops fetalis is a key feature of this condition.
Sources: Expert list
Fetal hydrops v1.16 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 31880392; 19261599
Phenotypes for gene: DOK7 were set to Fetal akinesia sequence, MIM#618389
Review for gene: DOK7 was set to AMBER
gene: DOK7 was marked as current diagnostic
Added comment: Two unrelated families reported with fetal akinesia deformation sequence, hydrops is a feature. The gene also causes a less severe phenotype (congenital myasthenic syndrome 10), hydrops is not a feature of this.
Sources: Expert list
Fetal hydrops v1.16 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 14735596, 10215064, 9856557; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal hydrops v1.16 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Review for gene: COL2A1 was set to GREEN
gene: COL2A1 was marked as current diagnostic
Added comment: Hydrops is a presenting feature of this skeletal dysplasia.
Sources: Expert list
Fetal hydrops v1.16 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Multiple pterygium syndrome, lethal type, MIM#253290
Review for gene: CHRNG was set to GREEN
gene: CHRNG was marked as current diagnostic
Added comment: Typically presents with cystic hygroma/hydrops fetalis.
Sources: Expert list
Fetal hydrops v1.16 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Multiple pterygium syndrome, lethal type, MIM#253290
Review for gene: CHRND was set to GREEN
gene: CHRND was marked as current diagnostic
Added comment: Typically presents with cystic hygroma/hydrops fetalis.
Sources: Expert list
Fetal hydrops v1.16 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, MIM#253290
Review for gene: CHRNA1 was set to GREEN
gene: CHRNA1 was marked as current diagnostic
Added comment: Typically presents with cystic hygroma/hydrops.
Sources: Expert list
Fetal hydrops v1.16 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anaemia, congenital, type Ia, MIM#224120
Review for gene: CDAN1 was set to GREEN
gene: CDAN1 was marked as current diagnostic
Added comment: Can present with fetal hydrops.
Sources: Expert list
Fetal hydrops v1.16 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
gene: ATP1A2 was marked as current diagnostic
Added comment: Three individuals from two unrelated families reported with bi-allelic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. Please note this is a distinct phenotype from the mono-allelic variants associated with alternating hemiplegia.
Sources: Expert list
Fetal hydrops v1.16 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Fetal hydrops. 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 II, MIM#608776
Review for gene: ALG9 was set to GREEN
Added comment: CDGs can present prenatally with hydrops fetalis; please note three patients reported in recent literature review.
Sources: Expert list
Fetal hydrops v1.16 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 26066342; 31420886
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#608104
Review for gene: ALG8 was set to GREEN
Added comment: CDGs can present prenatally with non-immune hydrops fetalis. Please note these two reviews: one of ALG8-CDG, reporting hydrops in 3/15 patients; and the other reporting hydrops in a range of CDGs.
Sources: Expert list
Fetal hydrops v1.16 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31420886; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM#608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.16 AHCY Zornitza Stark reviewed gene: AHCY: Rating: AMBER; Mode of pathogenicity: None; Publications: 30121674; Phenotypes: S-adenosylhomocysteine hydrolase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.16 DMPK_CTG Louise Daugherty Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Fetal hydrops DMPK Ellen McDonagh Added STR to panel
Fetal hydrops SGPL1 Sarah Leigh classified SGPL1 as green
Fetal hydrops SGPL1 Sarah Leigh added SGPL1 to panel
Fetal hydrops SGPL1 Sarah Leigh reviewed SGPL1
Fetal hydrops KLF1 Rebecca Foulger classified KLF1 as green
Fetal hydrops KLF1 Rebecca Foulger commented on KLF1
Fetal hydrops KLF1 Rebecca Foulger commented on KLF1
Fetal hydrops KLF1 Rebecca Foulger commented on KLF1
Fetal hydrops KLF1 Rebecca Foulger added KLF1 to panel
Fetal hydrops KLF1 Rebecca Foulger reviewed KLF1
Fetal hydrops TALDO1 Rebecca Foulger classified TALDO1 as green
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Fetal hydrops Rebecca Foulger promoted panel to version 1
Fetal hydrops SOS2 Rebecca Foulger commented on SOS2
Fetal hydrops SOS1 Rebecca Foulger commented on SOS1
Fetal hydrops SHOC2 Rebecca Foulger commented on SHOC2
Fetal hydrops RIT1 Rebecca Foulger commented on RIT1
Fetal hydrops RAF1 Rebecca Foulger commented on RAF1
Fetal hydrops PTPN11 Rebecca Foulger commented on PTPN11
Fetal hydrops NRAS Rebecca Foulger commented on NRAS
Fetal hydrops MAP2K2 Rebecca Foulger commented on MAP2K2
Fetal hydrops MAP2K1 Rebecca Foulger commented on MAP2K1
Fetal hydrops KRAS Rebecca Foulger commented on KRAS
Fetal hydrops HRAS Rebecca Foulger commented on HRAS
Fetal hydrops BRAF Rebecca Foulger commented on BRAF
Fetal hydrops IDUA Rebecca Foulger classified IDUA as amber
Fetal hydrops PEX7 Rebecca Foulger classified PEX7 as green
Fetal hydrops PEX7 Rebecca Foulger commented on PEX7
Fetal hydrops PEX2 Rebecca Foulger classified PEX2 as green
Fetal hydrops PEX2 Rebecca Foulger commented on PEX2
Fetal hydrops PEX11B Rebecca Foulger classified PEX11B as green
Fetal hydrops PEX11B Rebecca Foulger commented on PEX11B
Fetal hydrops PEX6 Rebecca Foulger classified PEX6 as green
Fetal hydrops PEX6 Rebecca Foulger commented on PEX6
Fetal hydrops PEX5 Rebecca Foulger classified PEX5 as green
Fetal hydrops PEX5 Rebecca Foulger commented on PEX5
Fetal hydrops PEX26 Rebecca Foulger classified PEX26 as green
Fetal hydrops PEX26 Rebecca Foulger commented on PEX26
Fetal hydrops PEX19 Rebecca Foulger classified PEX19 as green
Fetal hydrops PEX19 Rebecca Foulger commented on PEX19
Fetal hydrops PEX16 Rebecca Foulger classified PEX16 as green
Fetal hydrops PEX16 Rebecca Foulger commented on PEX16
Fetal hydrops PEX14 Rebecca Foulger classified PEX14 as green
Fetal hydrops PEX14 Rebecca Foulger commented on PEX14
Fetal hydrops PEX13 Rebecca Foulger classified PEX13 as green
Fetal hydrops PEX13 Rebecca Foulger commented on PEX13
Fetal hydrops PEX12 Rebecca Foulger classified PEX12 as green
Fetal hydrops PEX12 Rebecca Foulger commented on PEX12
Fetal hydrops PEX10 Rebecca Foulger classified PEX10 as green
Fetal hydrops PEX10 Rebecca Foulger commented on PEX10
Fetal hydrops PEX1 Rebecca Foulger classified PEX1 as green
Fetal hydrops PEX1 Rebecca Foulger commented on PEX1
Fetal hydrops IDUA Rebecca Foulger classified IDUA as green
Fetal hydrops PEX3 Rebecca Foulger classified PEX3 as green
Fetal hydrops PEX3 Rebecca Foulger commented on PEX3
Fetal hydrops IDUA Rebecca Foulger commented on IDUA
Fetal hydrops UROS Rebecca Foulger commented on UROS
Fetal hydrops AHCY Rebecca Foulger commented on AHCY
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Fetal hydrops FH Rebecca Foulger commented on FH
Fetal hydrops EBP Rebecca Foulger commented on EBP
Fetal hydrops HADHA Rebecca Foulger commented on HADHA
Fetal hydrops ASAH1 Rebecca Foulger commented on ASAH1
Fetal hydrops LIPA Rebecca Foulger commented on LIPA
Fetal hydrops NPC1 Rebecca Foulger commented on NPC1
Fetal hydrops SMPD1 Rebecca Foulger commented on SMPD1
Fetal hydrops SLC17A5 Rebecca Foulger commented on SLC17A5
Fetal hydrops IDUA Rebecca Foulger commented on IDUA
Fetal hydrops SUMF1 Rebecca Foulger commented on SUMF1
Fetal hydrops DHCR7 Rebecca Foulger commented on DHCR7
Fetal hydrops GNPTAB Rebecca Foulger commented on GNPTAB
Fetal hydrops GLB1 Rebecca Foulger commented on GLB1
Fetal hydrops GLA Rebecca Foulger commented on GLA
Fetal hydrops GBA Rebecca Foulger commented on GBA
Fetal hydrops GALNS Rebecca Foulger commented on GALNS
Fetal hydrops ALG1 Richard Choy edited their review of ALG1
Fetal hydrops ALG1 Richard Choy reviewed ALG1
Fetal hydrops CTSA Rebecca Foulger marked CTSA as ready
Fetal hydrops HBA2 Rebecca Foulger marked HBA2 as ready
Fetal hydrops HBA2 Rebecca Foulger classified HBA2 as green
Fetal hydrops HBA2 Rebecca Foulger commented on HBA2
Fetal hydrops HBA2 Rebecca Foulger edited their review of HBA2
Fetal hydrops HBA1 Rebecca Foulger classified HBA1 as green
Fetal hydrops HBA1 Rebecca Foulger edited their review of HBA1
Fetal hydrops CTSA Rebecca Foulger classified CTSA as green
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Fetal hydrops CCBE1 Rebecca Foulger marked CCBE1 as ready
Fetal hydrops CCBE1 Rebecca Foulger classified CCBE1 as green
Fetal hydrops CBL Rebecca Foulger marked CBL as ready
Fetal hydrops NEU1 Rebecca Foulger marked NEU1 as ready
Fetal hydrops HBZ Rebecca Foulger marked HBZ as ready
Fetal hydrops HBZ Rebecca Foulger classified HBZ as red
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Fetal hydrops CCBE1 Rebecca Foulger commented on CCBE1
Fetal hydrops LBR Rebecca Foulger marked LBR as ready
Fetal hydrops LBR Rebecca Foulger classified LBR as green
Fetal hydrops LARS2 Rebecca Foulger marked LARS2 as ready
Fetal hydrops DMPK Rebecca Foulger marked DMPK as ready
Fetal hydrops CBL Rebecca Foulger commented on CBL
Fetal hydrops CBL Rebecca Foulger classified CBL as green
Fetal hydrops PMM2 Rebecca Foulger marked PMM2 as ready
Fetal hydrops PIEZO1 Rebecca Foulger marked PIEZO1 as ready
Fetal hydrops GUSB Rebecca Foulger marked GUSB as ready
Fetal hydrops FOXC2 Rebecca Foulger marked FOXC2 as ready
Fetal hydrops FLT4 Rebecca Foulger marked FLT4 as ready
Fetal hydrops GBE1 Rebecca Foulger marked GBE1 as ready
Fetal hydrops HBA2 Richard Choy reviewed HBA2
Fetal hydrops HBA1 Richard Choy reviewed HBA1
Fetal hydrops CTSA Liona Poon added CTSA to panel
Fetal hydrops CTSA Liona Poon reviewed CTSA
Fetal hydrops ALG1 Rebecca Foulger commented on ALG1
Fetal hydrops LARS2 Rebecca Foulger classified LARS2 as red
Fetal hydrops LARS2 Rebecca Foulger commented on LARS2
Fetal hydrops LBR Rebecca Foulger commented on LBR
Fetal hydrops GUSB Rebecca Foulger classified GUSB as green
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GLE1 Rebecca Foulger classified GLE1 as red
Fetal hydrops GLE1 Rebecca Foulger commented on GLE1
Fetal hydrops PMM2 Rebecca Foulger classified PMM2 as green
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops DMPK Rebecca Foulger commented on DMPK
Fetal hydrops DMPK Rebecca Foulger classified DMPK as red
Fetal hydrops DMPK Rebecca Foulger commented on DMPK
Fetal hydrops CBL Rebecca Foulger commented on CBL
Fetal hydrops CBL Rebecca Foulger commented on CBL
Fetal hydrops NEU1 Rebecca Foulger classified NEU1 as green
Fetal hydrops NEU1 Rebecca Foulger commented on NEU1
Fetal hydrops NEU1 Rebecca Foulger commented on NEU1
Fetal hydrops NEU1 Rebecca Foulger commented on NEU1
Fetal hydrops FOXC2 Rebecca Foulger classified FOXC2 as green
Fetal hydrops FOXC2 Rebecca Foulger commented on FOXC2
Fetal hydrops FOXC2 Rebecca Foulger commented on FOXC2
Fetal hydrops FOXC2 Rebecca Foulger commented on FOXC2
Fetal hydrops FLT4 Rebecca Foulger classified FLT4 as green
Fetal hydrops FLT4 Rebecca Foulger commented on FLT4
Fetal hydrops FLT4 Rebecca Foulger commented on FLT4
Fetal hydrops PIEZO1 Rebecca Foulger classified PIEZO1 as green
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Fetal hydrops CCBE1 Rebecca Foulger commented on CCBE1
Fetal hydrops CCBE1 Rebecca Foulger edited their review of CCBE1
Fetal hydrops CCBE1 Rebecca Foulger commented on CCBE1
Fetal hydrops HBA1 Rebecca Foulger commented on HBA1
Fetal hydrops HBA2 Rebecca Foulger commented on HBA2
Fetal hydrops FOXP3 Rebecca Foulger marked FOXP3 as ready
Fetal hydrops FOXP3 Rebecca Foulger commented on FOXP3
Fetal hydrops FOXP3 Rebecca Foulger edited their review of FOXP3
Fetal hydrops GBE1 Rebecca Foulger classified GBE1 as green
Fetal hydrops FOXP3 Rebecca Foulger classified FOXP3 as green
Fetal hydrops FOXP3 Rebecca Foulger commented on FOXP3
Fetal hydrops NEU1 Liona Poon reviewed NEU1
Fetal hydrops FOXP3 Liona Poon reviewed FOXP3
Fetal hydrops FOXC2 Liona Poon reviewed FOXC2
Fetal hydrops FLT4 Liona Poon reviewed FLT4
Fetal hydrops CCBE1 Liona Poon reviewed CCBE1
Fetal hydrops HBA2 Liona Poon reviewed HBA2
Fetal hydrops HBA1 Liona Poon reviewed HBA1
Fetal hydrops HBA1 Liona Poon reviewed HBA1
Fetal hydrops GBE1 Liona Poon reviewed GBE1
Fetal hydrops PIEZO1 Tessa Homfray reviewed PIEZO1
Fetal hydrops FOXP3 Tessa Homfray reviewed FOXP3
Fetal hydrops PMM2 Diana Wellesley reviewed PMM2
Fetal hydrops PIEZO1 Diana Wellesley reviewed PIEZO1
Fetal hydrops LBR Diana Wellesley reviewed LBR
Fetal hydrops LARS2 Diana Wellesley reviewed LARS2
Fetal hydrops HBZ Diana Wellesley reviewed HBZ
Fetal hydrops HBA1 Diana Wellesley edited their review of HBA1
Fetal hydrops HBA2 Diana Wellesley reviewed HBA2
Fetal hydrops HBA1 Diana Wellesley reviewed HBA1
Fetal hydrops GUSB Diana Wellesley reviewed GUSB
Fetal hydrops GLE1 Diana Wellesley reviewed GLE1
Fetal hydrops GBE1 Diana Wellesley reviewed GBE1
Fetal hydrops DMPK Diana Wellesley reviewed DMPK
Fetal hydrops NEU1 Diana Wellesley edited their review of NEU1
Fetal hydrops FOXP3 Diana Wellesley commented on FOXP3
Fetal hydrops FOXC2 Diana Wellesley edited their review of FOXC2
Fetal hydrops CCBE1 Diana Wellesley commented on CCBE1
Fetal hydrops FLT4 Diana Wellesley edited their review of FLT4
Fetal hydrops CCBE1 Diana Wellesley edited their review of CCBE1
Fetal hydrops CCBE1 Diana Wellesley edited their review of CCBE1
Fetal hydrops CBL Diana Wellesley reviewed CBL
Fetal hydrops FOXC2 Diana Wellesley added FOXC2 to panel
Fetal hydrops FOXC2 Diana Wellesley reviewed FOXC2
Fetal hydrops FLT4 Diana Wellesley added FLT4 to panel
Fetal hydrops FLT4 Diana Wellesley reviewed FLT4
Fetal hydrops CCBE1 Diana Wellesley added CCBE1 to panel
Fetal hydrops CCBE1 Diana Wellesley reviewed CCBE1
Fetal hydrops NEU1 Diana Wellesley added NEU1 to panel
Fetal hydrops NEU1 Diana Wellesley reviewed NEU1
Fetal hydrops FOXP3 Diana Wellesley added FOXP3 to panel
Fetal hydrops FOXP3 Diana Wellesley reviewed FOXP3
Fetal hydrops DMPK Rebecca Foulger reviewed DMPK
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Fetal hydrops LBR Rebecca Foulger commented on LBR
Fetal hydrops LARS2 Rebecca Foulger commented on LARS2
Fetal hydrops HBZ Rebecca Foulger commented on HBZ
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GLE1 Rebecca Foulger commented on GLE1
Fetal hydrops GBE1 Rebecca Foulger commented on GBE1
Fetal hydrops CBL Rebecca Foulger commented on CBL