Activity
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12 actions
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| Fetal hydrops v1.94 | MDFIC | Ida Ertmanska changed review comment from: Comment on list classification: There are at least 3 probands reported with biallelic variants in MDFIC, who presented with central conducting lymphatic anomaly - including fetal hydrops (detected at 19-22 weeks). Based on the available evidence, this gene should be promoted to Green for Fetal hydrops at the next GMS update.; to: Comment on list classification: There are at least 3 probands reported with biallelic variants in MDFIC, who presented with central conducting lymphatic anomaly - including fetal hydrops (detected at 19-22 weeks). Based on the available evidence, this gene should be rated Green for Fetal hydrops. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.94 | MDFIC | Ida Ertmanska Classified gene: MDFIC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.94 | MDFIC | Ida Ertmanska Gene: mdfic has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.93 | MDFIC | Ida Ertmanska Tag Q4_25_promote_green was removed from gene: MDFIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.93 | MDFIC |
Ida Ertmanska Tag Q3_25_promote_green was removed from gene: MDFIC. Tag Q4_25_promote_green tag was added to gene: MDFIC. |
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| Fetal hydrops v1.93 | MDFIC | Ida Ertmanska Tag Q3_25_promote_green tag was added to gene: MDFIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.93 | MDFIC |
Ida Ertmanska changed review comment from: PMID: 35235341 Byrne et al., 2022 Reported 5 families (4 of them consanguineous - Arabic, Kurdish, Iranian ancestry; 1 non-consanguineous, European ancestry) with homozygous truncating variants in MDFIC in probands who displayed phenotypes consistent with CCLA - Central conducting lymphatic anomaly, including lymphoedema, pleural effusions, and hydrops. 3 probands were homozygous for the NM_001166345.1:c.391dup, p.(Met131Asnfs*3) variant. The parents were confirmed heterozygous in 2 families. 1 proband was homozygous for a NM_001166345.1: c.371del, p.(Ser124*) variant - absent from gnomAD, parents heterozygous. Last proband was homozygous for a NM_001166345.1:c.187G>T, p.(Gly63*) variant - parents heterozygous, variant absent from gnomAD. In a Chinese, non-consanguineous family (LE-452), two siblings presented with nonimmune hydrops fetalis (no lymphoedema) - compound het for c.391dup, p.(Met131Asnfs*3) and c.732 T>G; p.(Phe244Leu). Variants confirmed in trans. p.(Phe244Leu) is present in gnomAD v4 (28/44850 in East Asian population, MAF = 0.0006243, no homozygotes); Revel score = 0.38. 4 of the probands presented with hydrops - 3 of them fetal (19-22 weeks) and 1 at birth. This gene is associated with AR Lymphatic malformation 12, MIM:620014 (OMIM accessed 29th Oct 2025). Sources: Other; to: PMID: 35235341 Byrne et al., 2022 Reported 5 families (4 of them consanguineous - Arabic, Kurdish, Iranian ancestry; 1 non-consanguineous, European ancestry) with homozygous truncating variants in MDFIC in probands who displayed phenotypes consistent with CCLA - Central conducting lymphatic anomaly, including lymphoedema, pleural effusions, and hydrops. 3 probands were homozygous for the NM_001166345.1:c.391dup, p.(Met131Asnfs*3) variant. The parents were confirmed heterozygous in 2 families. 2/3 presented with hydrops. 1 proband was homozygous for a NM_001166345.1: c.371del, p.(Ser124*) variant - absent from gnomAD, parents heterozygous. Presented with hydrops at birth. In a Chinese, non-consanguineous family (LE-452), two siblings presented with nonimmune hydrops fetalis (no lymphoedema) - compound het for c.391dup, p.(Met131Asnfs*3) and c.732 T>G; p.(Phe244Leu). Variants confirmed in trans. p.(Phe244Leu) is present in gnomAD v4 (28/44850 in East Asian population, MAF = 0.0006243, no homozygotes); Revel score = 0.38. This gene is associated with AR Lymphatic malformation 12, MIM:620014 (OMIM accessed 29th Oct 2025). |
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| Fetal hydrops v1.93 | MDFIC | Ida Ertmanska edited their review of gene: MDFIC: Added comment: Comment on list classification: There are at least 3 probands reported with biallelic variants in MDFIC, who presented with central conducting lymphatic anomaly - including fetal hydrops (detected at 19-22 weeks). Based on the available evidence, this gene should be promoted to Green for Fetal hydrops at the next GMS update.; Changed publications to: 35235341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.93 | MDFIC |
Ida Ertmanska changed review comment from: PMID: 35235341 Byrne et al., 2022 Reported 5 families (4 of them consanguineous - Arabic, Kurdish, Iranian ancestry; 1 non-consanguineous, European ancestry) with homozygous truncating variants in MDFIC in probands who displayed phenotypes consistent with CCLA - Central conducting lymphatic anomaly, including lymphoedema, pleural effusions, and hydrops. 3 probands were homozygous for the NM_001166345.1:c.391dup, p.(Met131Asnfs*3) variant. The parents were confirmed heterozygous in 2 families. 1 proband was homozygous for a NM_001166345.1: c.371del, p.(Ser124*) variant - absent from gnomAD, parents heterozygous. Last proband was homozygous for a NM_001166345.1:c.187G>T, p.(Gly63*) variant - parents heterozygous, variant absent from gnomAD. In a Chinese, non-consanguineous family (LE-452), two siblings presented with nonimmune hydrops fetalis (no lymphoedema) - compound het for c.391dup, p.(Met131Asnfs*3) and c.732 T>G; p.(Phe244Leu). Variants confirmed in trans. p.(Phe244Leu) is present in gnomAD v4 (28/44850 in East Asian population, MAF = 0.0006243, no homozygotes); Revel score = 0.38. 4 of the probands presented with hydrops - 3 of them fetal (19-22 weeks) and 1 at birth. PMID: 39386015 Weidner et al., 2024 13-year-old female patient with central conducting lymphatic anomaly and a homozygous MDFIC mutation - variant not specified. This gene is associated with AR Lymphatic malformation 12, MIM:620014 (OMIM accessed 29th Oct 2025). Sources: Other; to: PMID: 35235341 Byrne et al., 2022 Reported 5 families (4 of them consanguineous - Arabic, Kurdish, Iranian ancestry; 1 non-consanguineous, European ancestry) with homozygous truncating variants in MDFIC in probands who displayed phenotypes consistent with CCLA - Central conducting lymphatic anomaly, including lymphoedema, pleural effusions, and hydrops. 3 probands were homozygous for the NM_001166345.1:c.391dup, p.(Met131Asnfs*3) variant. The parents were confirmed heterozygous in 2 families. 1 proband was homozygous for a NM_001166345.1: c.371del, p.(Ser124*) variant - absent from gnomAD, parents heterozygous. Last proband was homozygous for a NM_001166345.1:c.187G>T, p.(Gly63*) variant - parents heterozygous, variant absent from gnomAD. In a Chinese, non-consanguineous family (LE-452), two siblings presented with nonimmune hydrops fetalis (no lymphoedema) - compound het for c.391dup, p.(Met131Asnfs*3) and c.732 T>G; p.(Phe244Leu). Variants confirmed in trans. p.(Phe244Leu) is present in gnomAD v4 (28/44850 in East Asian population, MAF = 0.0006243, no homozygotes); Revel score = 0.38. 4 of the probands presented with hydrops - 3 of them fetal (19-22 weeks) and 1 at birth. This gene is associated with AR Lymphatic malformation 12, MIM:620014 (OMIM accessed 29th Oct 2025). Sources: Other |
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| Fetal hydrops v1.93 | MDFIC | Ida Ertmanska Classified gene: MDFIC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.93 | MDFIC | Ida Ertmanska Gene: mdfic has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.92 | MDFIC |
Ida Ertmanska gene: MDFIC was added gene: MDFIC was added to Fetal hydrops. Sources: Other Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to 35235341; 39386015 Phenotypes for gene: MDFIC were set to Nonimmune hydrops fetalis, HP:0001790; Lymphatic malformation 12, OMIM:620014; lymphatic malformation 12, MONDO:0031043 Review for gene: MDFIC was set to GREEN Added comment: PMID: 35235341 Byrne et al., 2022 Reported 5 families (4 of them consanguineous - Arabic, Kurdish, Iranian ancestry; 1 non-consanguineous, European ancestry) with homozygous truncating variants in MDFIC in probands who displayed phenotypes consistent with CCLA - Central conducting lymphatic anomaly, including lymphoedema, pleural effusions, and hydrops. 3 probands were homozygous for the NM_001166345.1:c.391dup, p.(Met131Asnfs*3) variant. The parents were confirmed heterozygous in 2 families. 1 proband was homozygous for a NM_001166345.1: c.371del, p.(Ser124*) variant - absent from gnomAD, parents heterozygous. Last proband was homozygous for a NM_001166345.1:c.187G>T, p.(Gly63*) variant - parents heterozygous, variant absent from gnomAD. In a Chinese, non-consanguineous family (LE-452), two siblings presented with nonimmune hydrops fetalis (no lymphoedema) - compound het for c.391dup, p.(Met131Asnfs*3) and c.732 T>G; p.(Phe244Leu). Variants confirmed in trans. p.(Phe244Leu) is present in gnomAD v4 (28/44850 in East Asian population, MAF = 0.0006243, no homozygotes); Revel score = 0.38. 4 of the probands presented with hydrops - 3 of them fetal (19-22 weeks) and 1 at birth. PMID: 39386015 Weidner et al., 2024 13-year-old female patient with central conducting lymphatic anomaly and a homozygous MDFIC mutation - variant not specified. This gene is associated with AR Lymphatic malformation 12, MIM:620014 (OMIM accessed 29th Oct 2025). Sources: Other |
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