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Primary lymphoedema v4.14 HGF Achchuthan Shanmugasundram changed review comment from: PMID:38676400 reported the Brussels PL cohort of 770 primary lymphoedema (PL) patients, of which ten unrelated patients were identified with loss-of-function variants in HGF gene (six nonsense, two frameshift and two splice-site variants). They have not been reported in any disease previously, and only one (p.Arg502Ter) was reported once in GnomAD v3. No likely pathogenic variant was detected in the other known PL genes for these patients. Co-segregation analysis of these variants in available family members identified five additional affected individuals and five unaffected carriers.

In addition, 17 unrelated families were reported with fourteen different rare missense variants in HGF gene. One of the patients carries two HGF missense variants (p.Asn624Lys + p.Gly627Asp), which he inherited from his asymptomatic father. Co-segregation analyses for all likely pathogenic missense variants identified two additional affected carriers and eleven unaffected carriers. There is also functional evidence available for both nonsense and missense variants.

PMID:38791500 reported the identification of a novel heterozygous HGF variant (p.Arg533Ter) in a multigenerational family presenting with primary leg lymphedema, consistent with an autosomal dominant inheritance pattern.

Monoallelic variants in HGF gene have not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:38676400 reported the Brussels PL cohort of 770 primary lymphoedema (PL) patients, of which ten unrelated patients were identified with loss-of-function variants in HGF gene (six nonsense, two frameshift and two splice-site variants). They have not been reported in any disease previously, and only one (p.Arg502Ter) was reported once in GnomAD v3. No likely pathogenic variant was detected in the other known PL genes for these patients. Co-segregation analysis of these variants in available family members identified five additional affected individuals and five unaffected carriers.

In addition, 17 unrelated families were reported with fourteen different rare missense variants in HGF gene. One of the patients carries two HGF missense variants (p.Asn624Lys + p.Gly627Asp), which he inherited from his asymptomatic father. Co-segregation analyses for all likely pathogenic missense variants identified two additional affected carriers and eleven unaffected carriers. There is also functional evidence available for both nonsense and missense variants.

PMID:38791500 reported the identification of a novel heterozygous HGF variant (p.Arg533Ter) in a multigenerational family presenting with primary leg lymphedema, consistent with an autosomal dominant inheritance pattern.

Monoallelic variants in HGF gene have not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype (records accessed 23 July 2025).
Primary lymphoedema v4.10 HGF Pia Ostergaard reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18564920, 40245437, 38676400, 38791500; Phenotypes: primary lymphoedema, clinically diverse with variable age of onset, variable degree of lymphoedema but predominantly bilateral in the lower limbs; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v4.7 HGF Achchuthan Shanmugasundram Classified gene: HGF as Amber List (moderate evidence)
Primary lymphoedema v4.7 HGF Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS update.
Primary lymphoedema v4.7 HGF Achchuthan Shanmugasundram Gene: hgf has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v4.6 HGF Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: HGF.
Primary lymphoedema v4.6 HGF Achchuthan Shanmugasundram Phenotypes for gene: HGF were changed from to primary lymphedema, MONDO:0019175
Primary lymphoedema v4.5 HGF Achchuthan Shanmugasundram Publications for gene: HGF were set to 18564920
Primary lymphoedema v4.4 HGF Achchuthan Shanmugasundram Mode of inheritance for gene: HGF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary lymphoedema v4.3 HGF Achchuthan Shanmugasundram reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 38676400, 38791500; Phenotypes: primary lymphedema, MONDO:0019175; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary lymphoedema v1.95 HGF Sarah Leigh Publications for gene: HGF were set to
Primary lymphoedema v1.88 HGF Sahar Mansour reviewed gene: HGF: Rating: RED; Mode of pathogenicity: ; Publications: 18564920; Phenotypes: Primary and Secondary Lymphedema; Mode of inheritance: Unknown
Primary lymphoedema v1.87 HGF Sarah Leigh commented on gene: HGF
Primary lymphoedema v1.87 HGF Sarah Leigh Mode of inheritance for gene: HGF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown
Primary lymphoedema v1.83 HGF Sarah Leigh gene: HGF was added
gene: HGF was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: HGF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal