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Primary lymphoedema v4.18 MDFIC Ida Ertmanska Tag Q4_25_NHS_review tag was added to gene: MDFIC.
Primary lymphoedema v4.18 MDFIC Ida Ertmanska Tag Q3_25_promote_green was removed from gene: MDFIC.
Tag Q4_25_promote_green tag was added to gene: MDFIC.
Primary lymphoedema v4.18 MDFIC Ida Ertmanska Tag Q3_25_promote_green tag was added to gene: MDFIC.
Primary lymphoedema v4.18 MDFIC Ida Ertmanska Phenotypes for gene: MDFIC were changed from primary lymphoedema; central conducting lymphatic anomaly to Lymphatic malformation 12, OMIM:620014; lymphatic malformation 12, MONDO:0031043
Primary lymphoedema v4.17 MDFIC Ida Ertmanska Publications for gene: MDFIC were set to PMID: 35235341; 39386015
Primary lymphoedema v4.16 MDFIC Ida Ertmanska Publications for gene: MDFIC were set to PMID: 35235341
Primary lymphoedema v4.15 MDFIC Ida Ertmanska Classified gene: MDFIC as Amber List (moderate evidence)
Primary lymphoedema v4.15 MDFIC Ida Ertmanska Gene: mdfic has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v4.14 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.
In addition, 4 unrelated individuals presented with hydrops, 3 of them fetal 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).; 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.

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).
Primary lymphoedema v4.14 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.
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.
In addition, 4 unrelated individuals presented with hydrops, 3 of them fetal 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).; 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.
In addition, 4 unrelated individuals presented with hydrops, 3 of them fetal 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).
Primary lymphoedema v4.14 MDFIC Ida Ertmanska edited their review of gene: MDFIC: Added comment: Comment on list classification: There are at least 5 probands reported with biallelic variants in MDFIC, who presented with central conducting lymphatic anomaly - including lymphoedema, pleural effusions, and hydrops. Based on the available evidence, this gene should be promoted to Green for Primary lymphoedema at the next GMS update.; Changed publications to: 35235341, 39386015
Primary lymphoedema v4.14 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.
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.
In addition, 4 unrelated individuals presented with hydrops, 3 of them fetal and 1 at birth.

This gene is associated with AR Lymphatic malformation 12, MIM:620014 (OMIM accessed 29th Oct 2025).; 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.
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.
In addition, 4 unrelated individuals presented with hydrops, 3 of them fetal 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).
Primary lymphoedema v4.14 MDFIC Ida Ertmanska reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 35235341; Phenotypes: Lymphatic malformation 12, OMIM:620014, lymphatic malformation 12, MONDO:0031043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v4.10 MDFIC Pia Ostergaard gene: MDFIC was added
gene: MDFIC was added to Primary lymphoedema. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to primary lymphoedema; central conducting lymphatic anomaly
Penetrance for gene: MDFIC were set to unknown
Review for gene: MDFIC was set to GREEN
Added comment: Sources: Literature