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Pituitary hormone deficiency v4.11 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).
Pituitary hormone deficiency v4.11 FGF8 Ida Ertmanska changed review comment from: PMID: 29584859 Hong et al., 2018 - BIALLELIC
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 - BIALLELIC
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.; 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).
Pituitary hormone deficiency v2.43 FGFR1 Eleanor Williams changed review comment from: Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S,Dattani MT, Pitteloud N.J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8.; to: Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S,Dattani MT, Pitteloud N.J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8.PMID: 22319038
Pituitary hormone deficiency v2.43 FGFR1 Eleanor Williams commented on gene: FGFR1: Review from Professor Dattani confirms that this gene should be green.
Pituitary hormone deficiency v2.43 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150) to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465; Pfeiffer syndrome, OMIM:101600; Jackson-Weiss syndrome, OMIM:123150
Pituitary hormone deficiency v2.15 FGFR1 Eleanor Williams reviewed gene: FGFR1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: CLEFT LIP/PALATE, OPTIC NERVE HYPOPLASIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.71 FGFR1 Ivone Leong commented on gene: FGFR1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Marked gene: FGFR1 as ready
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Classified gene: FGFR1 as Green List (high evidence)
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. FGFR1 is confirmed to be associated with the listed phenotypes in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities (Version 1.25), Hypogonadotropic hypogonadism (Version 1.15) and Holoprosencephaly (Version 1.6) panels. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the FGFR1 gene.
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.20 FGFR1 Ivone Leong Publications for gene: FGFR1 were set to
Pituitary hormone deficiency v0.5 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150)