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Holoprosencephaly - NOT chromosomal 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 - NOT chromosomal v5.8 FGFR1 Ida Ertmanska Publications for gene: FGFR1 were set to 19504604; 27363716
Holoprosencephaly - NOT chromosomal v5.7 FGFR1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1.
Holoprosencephaly - NOT chromosomal 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 - NOT chromosomal 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).
Holoprosencephaly - NOT chromosomal 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 - NOT chromosomal v5.7 FGFR1 Ida Ertmanska commented on gene: FGFR1
Holoprosencephaly - NOT chromosomal v1.21 FGFR1 Louise Daugherty Source NHS GMS was added to FGFR1.
Holoprosencephaly - NOT chromosomal v1.20 FGFR1 Louise Daugherty commented on gene: FGFR1
Holoprosencephaly - NOT chromosomal FGFR1 Helen Brittain marked FGFR1 as ready
Holoprosencephaly - NOT chromosomal FGFR1 Helen Brittain classified FGFR1 as green
Holoprosencephaly - NOT chromosomal FGFR1 Helen Brittain commented on FGFR1
Holoprosencephaly - NOT chromosomal FGFR1 Lara Menzies reviewed FGFR1
Holoprosencephaly - NOT chromosomal FGFR1 Richard Scott added FGFR1 to panel
Holoprosencephaly - NOT chromosomal FGFR1 Richard Scott reviewed FGFR1