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| Holoprosencephaly v6.4 | FGF8 |
Ida Ertmanska changed review comment from: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. MONOALLELIC CASES: PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). No pituitary deficiency reported for these patients. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921. FGF8 is associated with AD Hypogonadotropic hypogonadism 6 with or without anosmia 612702 in OMIM (accessed 7th Oct 2026).; to: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. PMID: 31748124 - IHH Proband 15, male, was homozygous for FGF8 p.R184C - consanguineous parents. He also had hearing loss and testicular calcification. PMID: 18596921 - Case 3 - IHH proband homozygous for FGF8 p.Phe40Leu variant. Additional FGFR1 mutations were also detected. MONOALLELIC CASES: PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). No pituitary deficiency reported for these patients. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921. FGF8 is associated with AD Hypogonadotropic hypogonadism 6 with or without anosmia 612702 in OMIM (accessed 7th Oct 2026). |
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| Holoprosencephaly v6.4 | FGF8 |
Ida Ertmanska changed review comment from: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. MONOALLELIC CASES: PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). No pituitary deficiency reported for these patients. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921.; to: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. MONOALLELIC CASES: PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). No pituitary deficiency reported for these patients. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921. FGF8 is associated with AD Hypogonadotropic hypogonadism 6 with or without anosmia 612702 in OMIM (accessed 7th Oct 2026). |
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| Holoprosencephaly v6.4 | FGF8 |
Ida Ertmanska changed review comment from: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. MONOALLELIC CASES: PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921.; to: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. MONOALLELIC CASES: PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). No pituitary deficiency reported for these patients. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921. |
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| Holoprosencephaly v6.4 | FGF8 |
Ida Ertmanska changed review comment from: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921.; to: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. MONOALLELIC CASES: PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921. |
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| Holoprosencephaly v6.4 | FGF8 |
Ida Ertmanska changed review comment from: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921.; to: BIALLELIC CASE REPORTS: PMID: 29584859 Hong et al., 2018 Cohort of 330 patients with holoprosencephaly, sequenced using a targeted capture panel of 150 developmental genes. Patient 'BL11322' - homozygous for FGF8 p.T122M (consanguineous parents). Clinical features: seizures, dev delay, semilobar HPE, microcephaly, hypotelorism. Determined to be a hypomorph in a functional assay (zebrafish overexpression experiments). Patient 'Anonymous' - hmz for FGF8 p.R178H (consanguineous parents). Clinical features: dev delay, semilobar HPE, diabetes insipidus, pituitary insufficiency. PMID: 27363716 Dubourg et al., 2016 Study screened a cohort of 257 HPE patients. 2.3% of patients had a FGF8 variant. - Fetus with semilobar HPE had a het FGF8 p.Thr199Met variant, along with a FGFR1 splice variant. - 4yo boy with semilobar HPE was het for FGF8 p.Ala106Glu (de novo) - 2 unrelated families with a het FGF8 p.Arg129* variant and alobar HPE / syntelencephaly. - 2 unrelated families with a het FGF8 p.Arg206Gln variant and lobar HPE, or microfom in the second family (where the variant cosegregated with another mutation in DLL1). PMID: 21832120 McCabe et al., 2011 Study objective: screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). FGF8 analysed by PCR and direct sequencing. A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. 2 hets with this variant reported in gnomAD v4. PMID: 21045958 Arauz et al., 2010 Study screened 360 probands with HPE for sequence variations in FGF8. Described a family with HPE and a heterozygous (putative hypomorphic) FGF8 variant c.686C>T, p.T229M. Twins affected - one with semilobar HPE, microcephaly, cleft palate, seizures, diabetes insipidus (DI), and severe neurological impairment; the other twin had only single maxillary central incisor and hypotelorism. Mother was het for the same variant but only noted to have mild hypotelorism. No coding mutations found in SHH, ZIC2, SIX3, or TGIF. The same variant was reported in an IHH patient in PMID: 18596921. |
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| Holoprosencephaly v5.9 | FGFR1 | Ida Ertmanska Phenotypes for gene: FGFR1 were changed from Hartsfield syndrome, 615465 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v5.8 | FGFR1 | Ida Ertmanska Publications for gene: FGFR1 were set to 19504604; 27363716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v5.7 | FGFR1 | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v5.7 | FGFR1 | Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are 4 individuals reported in literature with biallelic FGFR1 variants and spectrum of holoprosencephaly: lobar, alobar, corpus callosum agenesis, and absent septum pellucidum with a hypoplastic anterior corpus callosum. Based on available evidence, the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v5.7 | FGFR1 |
Ida Ertmanska changed review comment from: PMID: 25394172 Villanueva et al., 2015 7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous. P1: male, homozygous for c.1286T>A, p.V429E. Presented with absent puberty, severe split hand/foot malformation (both hands and feet), cryptorchidism, absent septum pellucidum, hypoplastic anterior corpus callosum. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in carrier family members. PMID: 23812909 Simonis et al., 2013 6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing. P1 had alobar HPE, P2 - lobar.; to: PMID: 25394172 Villanueva et al., 2015 7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous. P1: male, homozygous for c.1286T>A, p.V429E. Presented with absent puberty, severe split hand/foot malformation (both hands and feet), cryptorchidism, absent septum pellucidum, hypoplastic anterior corpus callosum. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in carrier family members. PMID: 23812909 Simonis et al., 2013 6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing. P1 had alobar HPE, P2 - lobar. PMID: 23154428 Jarzabek et al., 2012 5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations. P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits). FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026). |
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| Holoprosencephaly v5.7 | FGFR1 | Ida Ertmanska edited their review of gene: FGFR1: Changed rating: GREEN; Changed publications to: 23154428, 23812909, 25394172; Changed phenotypes to: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v5.7 | FGFR1 | Ida Ertmanska commented on gene: FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.21 | FGFR1 | Louise Daugherty Source NHS GMS was added to FGFR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly v1.20 | FGFR1 | Louise Daugherty commented on gene: FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly | FGFR1 | Helen Brittain marked FGFR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly | FGFR1 | Helen Brittain classified FGFR1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly | FGFR1 | Helen Brittain commented on FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly | FGFR1 | Lara Menzies reviewed FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly | FGFR1 | Richard Scott added FGFR1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly | FGFR1 | Richard Scott reviewed FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||