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Hypogonadotropic hypogonadism v0.137 NLGN3 Chirag Patel Marked gene: NLGN3 as ready
Hypogonadotropic hypogonadism v0.137 NLGN3 Chirag Patel Gene: nlgn3 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.137 NLGN3 Chirag Patel Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425; Hypogonadotropic hypogonadism MONDO:0018555
Hypogonadotropic hypogonadism v0.136 NLGN3 Chirag Patel Mode of inheritance for gene: NLGN3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypogonadotropic hypogonadism v0.135 NLGN3 Chirag Patel Classified gene: NLGN3 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v0.135 NLGN3 Chirag Patel Gene: nlgn3 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.134 Chirag Patel Added reviews for gene NLGN3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.133 Chirag Patel Copied gene NLGN3 from panel Mendeliome
Hypogonadotropic hypogonadism v0.133 NLGN3 Chirag Patel gene: NLGN3 was added
gene: NLGN3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NLGN3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NLGN3 were set to 28584888; 12669065; 25167861
Phenotypes for gene: NLGN3 were set to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425
Hypogonadotropic hypogonadism v0.132 NEUROG3 Chirag Patel Classified gene: NEUROG3 as Green List (high evidence)
Hypogonadotropic hypogonadism v0.132 NEUROG3 Chirag Patel Gene: neurog3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.131 NEUROG3 Chirag Patel Marked gene: NEUROG3 as ready
Hypogonadotropic hypogonadism v0.131 NEUROG3 Chirag Patel Gene: neurog3 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.131 NEUROG3 Chirag Patel gene: NEUROG3 was added
gene: NEUROG3 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 36149814; 27533310
Phenotypes for gene: NEUROG3 were set to Congenital malabsorptive diarrhea 4, MONDO:0012479; Hypogonadotropic hypogonadism, MONDO:0018555
Review for gene: NEUROG3 was set to GREEN
Added comment: PMID 27533310 reports 4 individuals from 3 families with 2 different homozygous rare missense variants (p.L135P and p.R107S) in NEUROG3 presenting with hypogonadotropic hypogonadism, congenital malabsorptive diarrhea, neonatal diabetes and short stature. No functional studies.

PMID 36149814 describes 3 unrelated Thai patients with families with 2 different homozygous rare missense variants ((p.Thr124Arg and p.Arg95Pro) in NEUROG3 presenting with multiple pituitary hormone deficiencies (GH deficiency and hypogonadotropic hypogonadism). Luciferase reporter assay showing markedly reduced transcriptional activity for both variants and western blot confirmed protein expression, indicating loss‑of‑function.
Sources: Literature
Hypogonadotropic hypogonadism v0.130 LEPR Chirag Patel Marked gene: LEPR as ready
Hypogonadotropic hypogonadism v0.130 LEPR Chirag Patel Gene: lepr has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.130 LEPR Chirag Patel Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency (MIM#614963) to Obesity due to leptin receptor gene deficiency, MONDO:0013992
Hypogonadotropic hypogonadism v0.129 LEPR Chirag Patel Publications for gene: LEPR were set to 17229951; 29545012
Hypogonadotropic hypogonadism v0.128 Chirag Patel Added reviews for gene LEPR from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.127 Chirag Patel Copied gene LEPR from panel Mendeliome
Hypogonadotropic hypogonadism v0.127 LEPR Chirag Patel gene: LEPR was added
gene: LEPR was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable, clinical trial tags were added to gene: LEPR.
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEPR were set to 17229951; 29545012
Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Hypogonadotropic hypogonadism v0.126 TBX3 Chirag Patel Marked gene: TBX3 as ready
Hypogonadotropic hypogonadism v0.126 TBX3 Chirag Patel Gene: tbx3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.126 TBX3 Chirag Patel Publications for gene: TBX3 were set to 9207801; 19938096; 28145909
Hypogonadotropic hypogonadism v0.125 TBX3 Chirag Patel reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40485890, 39788453, 36937985, 30550377; Phenotypes: Ulnar-mammary syndrome, MONDO:0008411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v0.125 Chirag Patel Copied gene TBX3 from panel Radial Ray Abnormalities
Hypogonadotropic hypogonadism v0.125 TBX3 Chirag Patel gene: TBX3 was added
gene: TBX3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX3 were set to 9207801; 19938096; 28145909
Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome, MIM# 181450; MONDO:0008411
Hypogonadotropic hypogonadism v0.124 TUBB3 Chirag Patel Classified gene: TUBB3 as Green List (high evidence)
Hypogonadotropic hypogonadism v0.124 TUBB3 Chirag Patel Gene: tubb3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.123 TUBB3 Chirag Patel Marked gene: TUBB3 as ready
Hypogonadotropic hypogonadism v0.123 TUBB3 Chirag Patel Gene: tubb3 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.123 TUBB3 Chirag Patel gene: TUBB3 was added
gene: TUBB3 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB3 were set to 34652576; 25559402
Phenotypes for gene: TUBB3 were set to TUBB3-related tubulinopathy, MONDO:0100154
Review for gene: TUBB3 was set to GREEN
Added comment: PMID 34652576 reports 14 individuals from 13 unrelated families with the same heterozygous de novo TUBB3 rare missense variant (p.Arg262His) presenting with congenital fibrosis of the extraocular muscles (CFEOM3), facial weakness, distal contractures, early‑onset peripheral neuropathy, and Kallmann syndrome (hypogonadotropic hypogonadism with anosmia). Detailed phenotyping and functional assays show dominant altered‑function of the mutant tubulin.

PMID 25559402 reports 4 affected individuals from 1 family (mother and 3 sons) with heterozygous TUBB3 rare missense variant (p.E410K) showing CFEOM, facial weakness, developmental delay, and variable endocrine abnormalities including hypogonadotropic hypogonadism, growth‑hormone deficiency and possible hypothyroidism. No functional data.
Sources: Literature
Hypogonadotropic hypogonadism v0.122 POU6F2 Chirag Patel Marked gene: POU6F2 as ready
Hypogonadotropic hypogonadism v0.122 POU6F2 Chirag Patel Gene: pou6f2 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.122 POU6F2 Chirag Patel Classified gene: POU6F2 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v0.122 POU6F2 Chirag Patel Gene: pou6f2 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.121 POU6F2 Chirag Patel gene: POU6F2 was added
gene: POU6F2 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: POU6F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POU6F2 were set to 37600690
Phenotypes for gene: POU6F2 were set to Hypogonadotropic hypogonadism, MONDO:0018555
Review for gene: POU6F2 was set to AMBER
Added comment: PMID 37600690 reports 15 individuals from 12 unrelated families with idiopathic hypogonadotropic hypogonadism (IHH). Twelve rare missense variants in functional POU domains were identified. Inheritance includes autosomal recessive (Family‑A homozygous, p.Gly601Arg variant), autosomal dominant with variable penetrance, and a de novo case (Family‑I). All variants were classified as VUS. Functional assays in a human GnRH cell line showed the p.Gly601Arg variant abolished repression of GNRH1, supporting loss‑of‑function as the disease mechanism. The p.Asn629His variant (2 families) was common the Turkish population and had no effect on functional assays.
Sources: Literature
Hypogonadotropic hypogonadism v0.120 RNF216 Chirag Patel Marked gene: RNF216 as ready
Hypogonadotropic hypogonadism v0.120 RNF216 Chirag Patel Gene: rnf216 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.120 Chirag Patel Copied gene RNF216 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.120 RNF216 Chirag Patel gene: RNF216 was added
gene: RNF216 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 25841028; 23656588; 38050071
Phenotypes for gene: RNF216 were set to Cerebellar ataxia-hypogonadism syndrome, MONDO:0008935
Hypogonadotropic hypogonadism v0.119 PLXNB1 Chirag Patel Marked gene: PLXNB1 as ready
Hypogonadotropic hypogonadism v0.119 PLXNB1 Chirag Patel Gene: plxnb1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.119 PLXNB1 Chirag Patel Classified gene: PLXNB1 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v0.119 PLXNB1 Chirag Patel Gene: plxnb1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.118 PLXNB1 Chirag Patel gene: PLXNB1 was added
gene: PLXNB1 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: PLXNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLXNB1 were set to 35170806
Phenotypes for gene: PLXNB1 were set to Hypogonadotropic hypogonadism MONDO:0018555
Review for gene: PLXNB1 was set to AMBER
Added comment: 6 individuals from 6 unrelated families with 6 different heterozygous missense PLXNB1 variants presenting with normosmic idiopathic hypogonadotropic hypogonadism (delayed puberty, low LH/FSH, normal olfaction). All variants were rare but classified as VUS (p.N361S, p.V608A, p.R636C, p.V672A, p.R1031H, p.C1318R). 3 variants were inherited from an unaffected parent, but parental status could not be clarified for 3 variants could not be clarified. Functional assay of p.R1031H variant showed reduced membrane expression and impaired GnRH‑cell migration, supporting a dominant‑negative mechanism.
Sources: Literature
Hypogonadotropic hypogonadism v0.117 SMCHD1 Chirag Patel Marked gene: SMCHD1 as ready
Hypogonadotropic hypogonadism v0.117 SMCHD1 Chirag Patel Gene: smchd1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.117 SMCHD1 Chirag Patel Publications for gene: SMCHD1 were set to 28067909
Hypogonadotropic hypogonadism v0.116 SMCHD1 Chirag Patel reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28067909, 38808953; Phenotypes: Arhinia, choanal atresia, microphthalmia MONDO:0011323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v0.116 Chirag Patel Copied gene SMCHD1 from panel Choanal atresia
Hypogonadotropic hypogonadism v0.116 SMCHD1 Chirag Patel gene: SMCHD1 was added
gene: SMCHD1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMCHD1 were set to 28067909
Phenotypes for gene: SMCHD1 were set to Bosma arhinia microphthalmia syndrome, MIM# 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323
Mode of pathogenicity for gene: SMCHD1 was set to Other
Hypogonadotropic hypogonadism v0.115 EMX2 Krithika Murali Marked gene: EMX2 as ready
Hypogonadotropic hypogonadism v0.115 EMX2 Krithika Murali Gene: emx2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.115 EMX2 Krithika Murali Phenotypes for gene: EMX2 were changed from Schizencephaly, MIM# 269160 to Schizencephaly, MIM# 269160Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related; 46,XX or XY DSD, EMX2-related
Hypogonadotropic hypogonadism v0.114 EMX2 Krithika Murali Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201
Hypogonadotropic hypogonadism v0.113 EMX2 Krithika Murali Classified gene: EMX2 as Green List (high evidence)
Hypogonadotropic hypogonadism v0.113 EMX2 Krithika Murali Gene: emx2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.112 Krithika Murali Copied gene EMX2 from panel Mendeliome
Hypogonadotropic hypogonadism v0.112 EMX2 Krithika Murali gene: EMX2 was added
gene: EMX2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: EMX2.
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201
Phenotypes for gene: EMX2 were set to Schizencephaly, MIM# 269160
Hypogonadotropic hypogonadism v0.111 DLG2 Bryony Thompson Marked gene: DLG2 as ready
Hypogonadotropic hypogonadism v0.111 DLG2 Bryony Thompson Gene: dlg2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.111 DLG2 Bryony Thompson Publications for gene: DLG2 were set to 37860969; 32341572
Hypogonadotropic hypogonadism v0.110 DLG2 Bryony Thompson Phenotypes for gene: DLG2 were changed from Intellectual disability (MONDO#0001071), DLG2-related; delayed puberty, self-limited, MONDO:0859205 to delayed puberty, self-limited, MONDO:0859205
Hypogonadotropic hypogonadism v0.109 Bryony Thompson Copied gene DLG2 from panel Mendeliome
Hypogonadotropic hypogonadism v0.109 DLG2 Bryony Thompson gene: DLG2 was added
gene: DLG2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
SV/CNV tags were added to gene: DLG2.
Mode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLG2 were set to 37860969; 32341572
Phenotypes for gene: DLG2 were set to Intellectual disability (MONDO#0001071), DLG2-related; delayed puberty, self-limited, MONDO:0859205
Hypogonadotropic hypogonadism v0.108 NKX2-1 Chirag Patel Deleted their comment
Hypogonadotropic hypogonadism v0.108 NKX2-1 Chirag Patel commented on gene: NKX2-1: PMID 30186310 reports 2 affected individuals (father-daughter) from 1 unrelated family (heterozygous nonsense variant - c.338G>A p.Trp113*) presenting with hypogonadotropic hypogonadism and growth‑hormone deficiency. PMID 33270637 reports 1 affected individual (heterozygous missense variant - c.67G>C) with pituitary stalk interruption syndrome, choreoathetosis and hypogonadotropic hypogonadism. No segregation data for 2nd case. No functional validation for both variants.
Hypogonadotropic hypogonadism v0.108 NKX2-1 Chirag Patel Marked gene: NKX2-1 as ready
Hypogonadotropic hypogonadism v0.108 NKX2-1 Chirag Patel Gene: nkx2-1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.108 NKX2-1 Chirag Patel Publications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969
Hypogonadotropic hypogonadism v0.107 NKX2-1 Chirag Patel Phenotypes for gene: NKX2-1 were changed from NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700 to NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520
Hypogonadotropic hypogonadism v0.106 NKX2-1 Chirag Patel Classified gene: NKX2-1 as Red List (low evidence)
Hypogonadotropic hypogonadism v0.106 NKX2-1 Chirag Patel Gene: nkx2-1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.105 NKX2-1 Chirag Patel Classified gene: NKX2-1 as Red List (low evidence)
Hypogonadotropic hypogonadism v0.105 NKX2-1 Chirag Patel Gene: nkx2-1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.104 NKX2-1 Chirag Patel edited their review of gene: NKX2-1: Added comment: PMID 30186310 reports 2 affected individuals (father-daughter) from 1 unrelated family (heterozygous nonsense variant - c.338G>A p.Trp113*) presenting with hypogonadotropic hypogonadism and growth‑hormone deficiency. PMID 33270637 reports 1 affected individual (heterozygous missense variant - c.67G>C) with pituitary stalk interruption syndrome, choreoathetosis and hypogonadotropic hypogonadism. No segregation data for 2nd case. No functional validation for both variants.; Changed rating: RED; Changed publications: 33270637, 30186310; Changed phenotypes: NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520
Hypogonadotropic hypogonadism v0.104 Chirag Patel Copied gene NKX2-1 from panel Mendeliome
Hypogonadotropic hypogonadism v0.104 NKX2-1 Chirag Patel gene: NKX2-1 was added
gene: NKX2-1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969
Phenotypes for gene: NKX2-1 were set to NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700
Hypogonadotropic hypogonadism v0.103 ARHGAP5 Chirag Patel Marked gene: ARHGAP5 as ready
Hypogonadotropic hypogonadism v0.103 ARHGAP5 Chirag Patel Gene: arhgap5 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.103 ARHGAP5 Chirag Patel gene: ARHGAP5 was added
gene: ARHGAP5 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: ARHGAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP5 were set to 39308770; 36178483
Phenotypes for gene: ARHGAP5 were set to Kallmann syndrome MONDO:0018800
Review for gene: ARHGAP5 was set to RED
Added comment: PMID 36178483 reports 2 individuals from 2 unrelated families with heterozygous truncating variants in ARHGAP5 (p.Phe790Ilefs*2, p.Tyr502Metfs*3) presenting with hypogonadotropic hypogonadism/Kallmann syndrome (childhood onset, anosmia). One variant was de novo and the other had unknown parental status. Functional zebrafish modeling showed no robust GnRH phenotype.

PMID 39308770 reported 1 patient with hypogonadotropic hypogonadism and a heterozygous ARHGAP5 variant (p.Val269Leu - classified as VUS) but provided no detailed phenotype, segregation or functional data.
Sources: Literature
Hypogonadotropic hypogonadism v0.102 AMH Chirag Patel Classified gene: AMH as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v0.102 AMH Chirag Patel Gene: amh has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.101 AMH Chirag Patel Marked gene: AMH as ready
Hypogonadotropic hypogonadism v0.101 AMH Chirag Patel Gene: amh has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.101 AMH Chirag Patel gene: AMH was added
gene: AMH was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: AMH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AMH were set to 31291191
Phenotypes for gene: AMH were set to Hypogonadotropic hypogonadism, MONDO:0018555
Review for gene: AMH was set to AMBER
Added comment: PMID 31291191 reports 3 individuals from 3 unrelated families with heterozygous missense variants in AMH gene (p.Thr99Ser, p.Pro151Ser, p.Asp238Glu). They presented with childhood‑onset hypogonadotropic hypogonadism (CHH) often with variable anosmia (Kallmann syndrome). Two variants were inherited from an affected parent, and 1 variant had unknown parental status. Functional studies demonstrated significantly reduced AMH secretion in transfected COS-7 cells, impaired GnRH‑neuron migration, and decreased GnRH release. AMH is expressed in migratory GnRH neurons in both mouse and human fetuses.
Sources: Literature
Hypogonadotropic hypogonadism v0.100 NDNF Chirag Patel reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 36245975; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism v0.100 MT-TS2 Zornitza Stark Marked gene: MT-TS2 as ready
Hypogonadotropic hypogonadism v0.100 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.100 Zornitza Stark Copied gene MT-TS2 from panel Mitochondrial disease
Hypogonadotropic hypogonadism v0.100 MT-TS2 Zornitza Stark gene: MT-TS2 was added
gene: MT-TS2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TS2.
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Publications for gene: MT-TS2 were set to 9792552; 10090882; 16950817; 21257182; 22369973; 22378285
Phenotypes for gene: MT-TS2 were set to Mitochondrial disease (MONDO:0044970), MT-TS2-related
Hypogonadotropic hypogonadism v0.99 PROKR2 Chirag Patel Deleted their comment
Hypogonadotropic hypogonadism v0.99 PCSK1 Chirag Patel Marked gene: PCSK1 as ready
Hypogonadotropic hypogonadism v0.99 PCSK1 Chirag Patel Gene: pcsk1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.99 Chirag Patel Copied gene PCSK1 from panel Adrenal insufficiency
Hypogonadotropic hypogonadism v0.99 PCSK1 Chirag Patel gene: PCSK1 was added
gene: PCSK1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCSK1 were set to 30383237
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing MIM#600955
Hypogonadotropic hypogonadism v0.98 POLR3A Chirag Patel Marked gene: POLR3A as ready
Hypogonadotropic hypogonadism v0.98 POLR3A Chirag Patel Gene: polr3a has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 PNPLA6 Chirag Patel Marked gene: PNPLA6 as ready
Hypogonadotropic hypogonadism v0.98 PNPLA6 Chirag Patel Gene: pnpla6 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 PLXNA3 Chirag Patel Marked gene: PLXNA3 as ready
Hypogonadotropic hypogonadism v0.98 PLXNA3 Chirag Patel Gene: plxna3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 OTX2 Chirag Patel Marked gene: OTX2 as ready
Hypogonadotropic hypogonadism v0.98 OTX2 Chirag Patel Gene: otx2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 NR0B1 Chirag Patel Marked gene: NR0B1 as ready
Hypogonadotropic hypogonadism v0.98 NR0B1 Chirag Patel Gene: nr0b1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 NOS1 Chirag Patel Marked gene: NOS1 as ready
Hypogonadotropic hypogonadism v0.98 NOS1 Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 LHX4 Chirag Patel Marked gene: LHX4 as ready
Hypogonadotropic hypogonadism v0.98 LHX4 Chirag Patel Gene: lhx4 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 LHX3 Chirag Patel Marked gene: LHX3 as ready
Hypogonadotropic hypogonadism v0.98 LHX3 Chirag Patel Gene: lhx3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 LHB Chirag Patel Marked gene: LHB as ready
Hypogonadotropic hypogonadism v0.98 LHB Chirag Patel Gene: lhb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 KLB Chirag Patel Marked gene: KLB as ready
Hypogonadotropic hypogonadism v0.98 KLB Chirag Patel Gene: klb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 KISS1R Chirag Patel Marked gene: KISS1R as ready
Hypogonadotropic hypogonadism v0.98 KISS1R Chirag Patel Gene: kiss1r has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 HID1 Chirag Patel Marked gene: HID1 as ready
Hypogonadotropic hypogonadism v0.98 HID1 Chirag Patel Gene: hid1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 HESX1 Chirag Patel Marked gene: HESX1 as ready
Hypogonadotropic hypogonadism v0.98 HESX1 Chirag Patel Gene: hesx1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 GNRHR Chirag Patel Marked gene: GNRHR as ready
Hypogonadotropic hypogonadism v0.98 GNRHR Chirag Patel Gene: gnrhr has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 GNRH1 Chirag Patel Marked gene: GNRH1 as ready
Hypogonadotropic hypogonadism v0.98 GNRH1 Chirag Patel Gene: gnrh1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 GNAI2 Chirag Patel Marked gene: GNAI2 as ready
Hypogonadotropic hypogonadism v0.98 GNAI2 Chirag Patel Gene: gnai2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 GLI3 Chirag Patel Marked gene: GLI3 as ready
Hypogonadotropic hypogonadism v0.98 GLI3 Chirag Patel Gene: gli3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 GLI2 Chirag Patel Marked gene: GLI2 as ready
Hypogonadotropic hypogonadism v0.98 GLI2 Chirag Patel Gene: gli2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 FSHB Chirag Patel Marked gene: FSHB as ready
Hypogonadotropic hypogonadism v0.98 FSHB Chirag Patel Gene: fshb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 FOXA2 Chirag Patel Marked gene: FOXA2 as ready
Hypogonadotropic hypogonadism v0.98 FOXA2 Chirag Patel Gene: foxa2 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 FGFR1 Chirag Patel Marked gene: FGFR1 as ready
Hypogonadotropic hypogonadism v0.98 FGFR1 Chirag Patel Gene: fgfr1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 FGF8 Chirag Patel Marked gene: FGF8 as ready
Hypogonadotropic hypogonadism v0.98 FGF8 Chirag Patel Gene: fgf8 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 FGF17 Chirag Patel Marked gene: FGF17 as ready
Hypogonadotropic hypogonadism v0.98 FGF17 Chirag Patel Gene: fgf17 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 EIF2S3 Chirag Patel Marked gene: EIF2S3 as ready
Hypogonadotropic hypogonadism v0.98 EIF2S3 Chirag Patel Gene: eif2s3 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 DCAF17 Chirag Patel Marked gene: DCAF17 as ready
Hypogonadotropic hypogonadism v0.98 DCAF17 Chirag Patel Gene: dcaf17 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 CUL4B Chirag Patel Marked gene: CUL4B as ready
Hypogonadotropic hypogonadism v0.98 CUL4B Chirag Patel Gene: cul4b has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 CHD7 Chirag Patel Marked gene: CHD7 as ready
Hypogonadotropic hypogonadism v0.98 CHD7 Chirag Patel Gene: chd7 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 BMP4 Chirag Patel Marked gene: BMP4 as ready
Hypogonadotropic hypogonadism v0.98 BMP4 Chirag Patel Gene: bmp4 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 ARHGAP35 Chirag Patel Marked gene: ARHGAP35 as ready
Hypogonadotropic hypogonadism v0.98 ARHGAP35 Chirag Patel Gene: arhgap35 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 ANOS1 Chirag Patel Marked gene: ANOS1 as ready
Hypogonadotropic hypogonadism v0.98 ANOS1 Chirag Patel Gene: anos1 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.98 SLC40A1 Chirag Patel Marked gene: SLC40A1 as ready
Hypogonadotropic hypogonadism v0.98 SLC40A1 Chirag Patel Gene: slc40a1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.98 SLC40A1 Chirag Patel Classified gene: SLC40A1 as Red List (low evidence)
Hypogonadotropic hypogonadism v0.98 SLC40A1 Chirag Patel Gene: slc40a1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.97 SLC40A1 Chirag Patel Classified gene: SLC40A1 as Red List (low evidence)
Hypogonadotropic hypogonadism v0.97 SLC40A1 Chirag Patel Gene: slc40a1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.96 SLC40A1 Chirag Patel changed review comment from: Hypogonadotropic hypogonadism is a feature; to: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.
Hypogonadotropic hypogonadism v0.96 HAMP Chirag Patel Marked gene: HAMP as ready
Hypogonadotropic hypogonadism v0.96 HAMP Chirag Patel Gene: hamp has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.96 HAMP Chirag Patel Classified gene: HAMP as Red List (low evidence)
Hypogonadotropic hypogonadism v0.96 HAMP Chirag Patel Gene: hamp has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.95 HAMP Chirag Patel changed review comment from: Hypogonadotropic hypogonadism is a feature; to: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.
Hypogonadotropic hypogonadism v0.95 TFR2 Chirag Patel Marked gene: TFR2 as ready
Hypogonadotropic hypogonadism v0.95 TFR2 Chirag Patel Gene: tfr2 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.95 TFR2 Chirag Patel Classified gene: TFR2 as Red List (low evidence)
Hypogonadotropic hypogonadism v0.95 TFR2 Chirag Patel Gene: tfr2 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.94 TFR2 Chirag Patel changed review comment from: Hypogonadotropic hypogonadism is a feature; to: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.
Hypogonadotropic hypogonadism v0.94 HFE2 Chirag Patel Marked gene: HFE2 as ready
Hypogonadotropic hypogonadism v0.94 HFE2 Chirag Patel Gene: hfe2 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.94 HFE2 Chirag Patel Classified gene: HFE2 as Red List (low evidence)
Hypogonadotropic hypogonadism v0.94 HFE2 Chirag Patel Gene: hfe2 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.93 HFE2 Chirag Patel changed review comment from: Hypogonadotropic hypogonadism is a feature; to: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.
Hypogonadotropic hypogonadism v0.93 HFE Chirag Patel Marked gene: HFE as ready
Hypogonadotropic hypogonadism v0.93 HFE Chirag Patel Gene: hfe has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.93 HFE Chirag Patel Classified gene: HFE as Red List (low evidence)
Hypogonadotropic hypogonadism v0.93 HFE Chirag Patel Gene: hfe has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.92 HFE Chirag Patel changed review comment from: Hypogonadotropic hypogonadism is a feature; to: Late complication of disease with low lifetime penetrance - not suitable for this panel.
Hypogonadotropic hypogonadism v0.92 Chirag Patel Added reviews for gene HFE2 from panel Monogenic Diabetes
Hypogonadotropic hypogonadism v0.91 Chirag Patel Added reviews for gene HFE from panel Monogenic Diabetes
Hypogonadotropic hypogonadism v0.90 CPE Chirag Patel Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 to BDV syndrome MONDO:0859150
Hypogonadotropic hypogonadism v0.89 CPE Chirag Patel Marked gene: CPE as ready
Hypogonadotropic hypogonadism v0.89 CPE Chirag Patel Gene: cpe has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.89 Chirag Patel Added reviews for gene CPE from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.88 Chirag Patel Copied gene CPE from panel Mendeliome
Hypogonadotropic hypogonadism v0.88 CPE Chirag Patel gene: CPE was added
gene: CPE was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 26120850; 32936766; 34383079
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Hypogonadotropic hypogonadism v0.87 NRP1 Chirag Patel Marked gene: NRP1 as ready
Hypogonadotropic hypogonadism v0.87 NRP1 Chirag Patel Gene: nrp1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.87 NRP1 Chirag Patel gene: NRP1 was added
gene: NRP1 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: NRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRP1 were set to 34636164; 28334861
Phenotypes for gene: NRP1 were set to Hypogonadotropic hypogonadism MONDO:0018555
Review for gene: NRP1 was set to RED
Added comment: PMID 28334861 and PMID 34636164 report a total of 13 individuals (8 families, 8 unrelated) with heterozygous missense NRP1 variants presenting with isolated hypogonadotropic hypogonadism / Kallmann syndrome (childhood‑adolescent onset, anosmia, low gonadotropins). Several variants inherited from unaffected parents. No functional assays were performed, but the variants are rare and predicted loss‑of‑function. Variants are classified as VUS. Oligogenic inheritance in some probands with additional IHH‑associated gene variants.
Sources: Literature
Hypogonadotropic hypogonadism v0.86 NRP2 Chirag Patel Marked gene: NRP2 as ready
Hypogonadotropic hypogonadism v0.86 NRP2 Chirag Patel Gene: nrp2 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.86 NRP2 Chirag Patel reviewed gene: NRP2: Rating: RED; Mode of pathogenicity: None; Publications: 34636164, 28334861; Phenotypes: Hypogonadotropic hypogonadism MONDO:0018555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v0.86 NRP2 Chirag Patel Deleted their review
Hypogonadotropic hypogonadism v0.86 NRP2 Chirag Patel gene: NRP2 was added
gene: NRP2 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: NRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRP2 were set to 34636164; 28334861
Phenotypes for gene: NRP2 were set to Hypogonadotropic hypogonadism, MONDO:0018555
Review for gene: NRP2 was set to GREEN
Added comment: PMID 28334861 reports four individuals with heterozygous NRP2 missense variants presenting with Kallmann syndrome (congenital hypogonadotropic hypogonadism with anosmia). PMID 34636164 reports two unrelated families with heterozygous NRP2 missense variants causing isolated normosmic hypogonadotropic hypogonadism. No functional validation or segregation data were provided for any variant. Variants are too common in population and/or classified as VUS/benign.
Sources: Literature
Hypogonadotropic hypogonadism v0.85 PLXNA1 Chirag Patel Marked gene: PLXNA1 as ready
Hypogonadotropic hypogonadism v0.85 PLXNA1 Chirag Patel Gene: plxna1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.85 Chirag Patel Copied gene PLXNA1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.85 PLXNA1 Chirag Patel gene: PLXNA1 was added
gene: PLXNA1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PLXNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLXNA1 were set to 28334861; 30467832; 34636164
Phenotypes for gene: PLXNA1 were set to Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Hypogonadotropic hypogonadism v0.84 TTC26 Chirag Patel Marked gene: TTC26 as ready
Hypogonadotropic hypogonadism v0.84 TTC26 Chirag Patel Gene: ttc26 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.84 TTC26 Chirag Patel gene: TTC26 was added
gene: TTC26 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 32617964
Phenotypes for gene: TTC26 were set to biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191
Review for gene: TTC26 was set to RED
Added comment: PMID 32617964 reports 4 individuals from 2 unrelated consanguineous families with the same homozygous TTC26 variant (c.695A>G, p.Asn232Ser) presenting with pituitary stalk interruption syndrome (PSIS) and multiple anterior pituitary hormone deficiencies (GH, ACTH, TSH), micropenis, growth failure, and additional hepatic, renal, cardiac and skeletal anomalies. The phenotype also includes features of hypogonadotropic hypogonadism (micropenis). No functional validation of the missense variant is provided.
Sources: Literature
Hypogonadotropic hypogonadism v0.83 SOX11 Chirag Patel Marked gene: SOX11 as ready
Hypogonadotropic hypogonadism v0.83 SOX11 Chirag Patel Gene: sox11 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v0.83 Chirag Patel Copied gene SOX11 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.83 SOX11 Chirag Patel gene: SOX11 was added
gene: SOX11 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 29459093; 24886874; 33086258; 33785884; 35642566; 35341651
Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866
Hypogonadotropic hypogonadism v0.82 NDNF Zornitza Stark Marked gene: NDNF as ready
Hypogonadotropic hypogonadism v0.82 NDNF Zornitza Stark Gene: ndnf has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.82 NDNF Zornitza Stark Publications for gene: NDNF were set to 31883645; 40788466
Hypogonadotropic hypogonadism v0.81 NDNF Zornitza Stark Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism v0.80 NDNF Zornitza Stark edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism v0.79 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Hypogonadotropic hypogonadism v0.79 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Hypogonadotropic hypogonadism v0.79 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Hypogonadotropic hypogonadism v0.78 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Marked gene: NSMF as ready
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Hypogonadotropic hypogonadism v0.76 NSMF Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Marked gene: DUSP6 as ready
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to 23643382; 32389901
Hypogonadotropic hypogonadism v0.75 Zornitza Stark Added reviews for gene DUSP6 from panel Mendeliome
Hypogonadotropic hypogonadism v0.74 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Hypogonadotropic hypogonadism v0.73 Chirag Patel HPO terms changed from to Hypogonadotropic hypogonadism HP:0000044
Panel status changed from internal to public
Panel types changed to Rare Disease
Hypogonadotropic hypogonadism v0.72 Chirag Patel Copied gene FEZF1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.72 FEZF1 Chirag Patel gene: FEZF1 was added
gene: FEZF1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FEZF1 were set to 25192046; 32400067
Phenotypes for gene: FEZF1 were set to Hypogonadotropic hypogonadism 22, with or without anosmia 616030
Hypogonadotropic hypogonadism v0.71 Chirag Patel Copied gene IL17RD from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.71 IL17RD Chirag Patel gene: IL17RD was added
gene: IL17RD was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: IL17RD.
Mode of inheritance for gene: IL17RD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IL17RD were set to 23643382; 32389901
Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Hypogonadotropic hypogonadism v0.70 Chirag Patel Copied gene NDNF from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.70 NDNF Chirag Patel gene: NDNF was added
gene: NDNF was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDNF were set to 31883645; 40788466
Phenotypes for gene: NDNF were set to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Hypogonadotropic hypogonadism v0.69 Chirag Patel Copied gene KISS1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.69 KISS1 Chirag Patel gene: KISS1 was added
gene: KISS1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: KISS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KISS1 were set to 22335740; 25783047; 22766261; 17563351
Phenotypes for gene: KISS1 were set to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Hypogonadotropic hypogonadism v0.68 Chirag Patel Copied gene PRDM13 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.68 PRDM13 Chirag Patel gene: PRDM13 was added
gene: PRDM13 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
founder tags were added to gene: PRDM13.
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 34730112
Phenotypes for gene: PRDM13 were set to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Hypogonadotropic hypogonadism v0.67 Chirag Patel Copied gene RAX from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.67 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30811539, 40321348
Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038
Hypogonadotropic hypogonadism v0.66 Chirag Patel Copied gene RBM28 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.66 RBM28 Chirag Patel gene: RBM28 was added
gene: RBM28 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 20231366; 18439547; 33941690
Phenotypes for gene: RBM28 were set to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Hypogonadotropic hypogonadism v0.65 Chirag Patel Copied gene SPRY4 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.65 SPRY4 Chirag Patel gene: SPRY4 was added
gene: SPRY4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert list
disputed tags were added to gene: SPRY4.
Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRY4 were set to 23643382
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Hypogonadotropic hypogonadism v0.64 Chirag Patel Copied gene ARNT2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.64 ARNT2 Chirag Patel gene: ARNT2 was added
gene: ARNT2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert Review Amber,Literature,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475, 11381139
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome 615926
Hypogonadotropic hypogonadism v0.63 Chirag Patel Copied gene CCDC141 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.63 CCDC141 Chirag Patel gene: CCDC141 was added
gene: CCDC141 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: CCDC141 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CCDC141 were set to 251920460; 28324054; 32520725; 27014940
Phenotypes for gene: CCDC141 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related
Hypogonadotropic hypogonadism v0.62 Chirag Patel Copied gene CLPP from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.62 CLPP Chirag Patel gene: CLPP was added
gene: CLPP was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 23541340; 25956234; 26970254; 27087618; 27650058; 27650058; 27899912
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129
Hypogonadotropic hypogonadism v0.61 Chirag Patel Copied gene ESRP2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.61 ESRP2 Chirag Patel gene: ESRP2 was added
gene: ESRP2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152
Hypogonadotropic hypogonadism v0.60 Chirag Patel Copied gene SEMA3E from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.60 SEMA3E Chirag Patel gene: SEMA3E was added
gene: SEMA3E was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: SEMA3E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3E were set to 25985275
Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome (MIM#214800)
Hypogonadotropic hypogonadism v0.59 Chirag Patel Copied gene NSMF from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.59 NSMF Chirag Patel gene: NSMF was added
gene: NSMF was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Hypogonadotropic hypogonadism v0.58 Chirag Patel Copied gene NHLH2 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.58 NHLH2 Chirag Patel gene: NHLH2 was added
gene: NHLH2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLH2 were set to 35066646
Phenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755
Hypogonadotropic hypogonadism v0.57 Chirag Patel Copied gene HS6ST1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.57 HS6ST1 Chirag Patel gene: HS6ST1 was added
gene: HS6ST1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HS6ST1 was set to Other
Publications for gene: HS6ST1 were set to 21700882
Phenotypes for gene: HS6ST1 were set to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Hypogonadotropic hypogonadism v0.56 Chirag Patel Copied gene FLRT3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.56 FLRT3 Chirag Patel gene: FLRT3 was added
gene: FLRT3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLRT3 was set to Unknown
Publications for gene: FLRT3 were set to 23643382; 31200363
Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)
Hypogonadotropic hypogonadism v0.55 Chirag Patel Copied gene DUSP6 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.55 DUSP6 Chirag Patel gene: DUSP6 was added
gene: DUSP6 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: DUSP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DUSP6 were set to 23643382; 32389901
Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269
Hypogonadotropic hypogonadism v0.54 Chirag Patel Copied gene AXL from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.54 AXL Chirag Patel gene: AXL was added
gene: AXL was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXL were set to 24476074
Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related
Hypogonadotropic hypogonadism v0.53 TFR2 Chirag Patel commented on gene: TFR2
Hypogonadotropic hypogonadism v0.53 Chirag Patel Copied gene TFR2 from panel Mendeliome
Hypogonadotropic hypogonadism v0.53 TFR2 Chirag Patel gene: TFR2 was added
gene: TFR2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 24847265; 29743178
Phenotypes for gene: TFR2 were set to Haemochromatosis, type 3 (MIM#604250)
Hypogonadotropic hypogonadism v0.52 Chirag Patel Copied gene WDR11 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.52 WDR11 Chirag Patel gene: WDR11 was added
gene: WDR11 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert List,Genomics England PanelApp
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
Hypogonadotropic hypogonadism v0.51 Chirag Patel Copied gene ZRSR2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.51 ZRSR2 Chirag Patel gene: ZRSR2 was added
gene: ZRSR2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, MIM# 301132
Hypogonadotropic hypogonadism v0.50 Chirag Patel Copied gene TAC3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.50 TAC3 Chirag Patel gene: TAC3 was added
gene: TAC3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAC3 were set to 19079066; 20332248; 23329188; 22031817
Phenotypes for gene: TAC3 were set to Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839)
Hypogonadotropic hypogonadism v0.49 Chirag Patel Copied gene TACR3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.49 TACR3 Chirag Patel gene: TACR3 was added
gene: TACR3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACR3 were set to 20332248; 19079066
Phenotypes for gene: TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Hypogonadotropic hypogonadism v0.48 Chirag Patel Copied gene TBC1D32 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.48 TBC1D32 Chirag Patel gene: TBC1D32 was added
gene: TBC1D32 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556; 24285566; 31130284; 36826837; 40319332
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Hypogonadotropic hypogonadism v0.47 Chirag Patel Copied gene TCF12 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.47 TCF12 Chirag Patel gene: TCF12 was added
gene: TCF12 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TCF12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TCF12 were set to 32620954
Phenotypes for gene: TCF12 were set to Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallmann syndrome
Hypogonadotropic hypogonadism v0.46 SLC40A1 Chirag Patel commented on gene: SLC40A1
Hypogonadotropic hypogonadism v0.46 Chirag Patel Copied gene SLC40A1 from panel Mendeliome
Hypogonadotropic hypogonadism v0.46 SLC40A1 Chirag Patel gene: SLC40A1 was added
gene: SLC40A1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC40A1 were set to 11431687; 11518736; 15956209; 16351644
Phenotypes for gene: SLC40A1 were set to Haemochromatosis, type 4, MIM# 606069
Hypogonadotropic hypogonadism v0.45 Chirag Patel Copied gene SOX10 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.45 SOX10 Chirag Patel gene: SOX10 was added
gene: SOX10 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 23643381; 15004559
Phenotypes for gene: SOX10 were set to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Mode of pathogenicity for gene: SOX10 was set to Other
Hypogonadotropic hypogonadism v0.44 Chirag Patel Copied gene SOX2 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.44 SOX2 Chirag Patel gene: SOX2 was added
gene: SOX2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX2 were set to PMID: 20301477
Phenotypes for gene: SOX2 were set to Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799; Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Hypogonadotropic hypogonadism v0.43 Chirag Patel Copied gene SOX3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.43 SOX3 Chirag Patel gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
SV/CNV tags were added to gene: SOX3.
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Hypogonadotropic hypogonadism v0.42 SLC29A3 Chirag Patel commented on gene: SLC29A3
Hypogonadotropic hypogonadism v0.42 Chirag Patel Copied gene ROBO1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.42 ROBO1 Chirag Patel gene: ROBO1 was added
gene: ROBO1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ROBO1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to PMID: 30530901; 30692597; 33270637; 28402530
Phenotypes for gene: ROBO1 were set to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Hypogonadotropic hypogonadism v0.41 Chirag Patel Copied gene SEMA3A from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.41 SEMA3A Chirag Patel gene: SEMA3A was added
gene: SEMA3A was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827
Phenotypes for gene: SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897
Hypogonadotropic hypogonadism v0.40 Chirag Patel Copied gene SEMA3F from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.40 SEMA3F Chirag Patel gene: SEMA3F was added
gene: SEMA3F was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA3F were set to PMID: 33495532
Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism v0.39 Chirag Patel Copied gene SLC29A3 from panel Mendeliome
Hypogonadotropic hypogonadism v0.39 SLC29A3 Chirag Patel gene: SLC29A3 was added
gene: SLC29A3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 18940313; 19336477; 22238637
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Hypogonadotropic hypogonadism v0.38 Chirag Patel Copied gene PROP1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.38 PROP1 Chirag Patel gene: PROP1 was added
gene: PROP1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROP1 were set to 20301521, 31090814
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 MIM# 262600
Hypogonadotropic hypogonadism v0.37 Chirag Patel Copied gene PROKR2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.37 PROKR2 Chirag Patel gene: PROKR2 was added
gene: PROKR2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROKR2 were set to 22319038; 25678757; 25759380; 18826963; 29161432
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Hypogonadotropic hypogonadism v0.36 Chirag Patel Copied gene POLR3B from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.36 POLR3B Chirag Patel gene: POLR3B was added
gene: POLR3B was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to 27512013; 23355746; 22036171; 22036172; 25339210; 33005949; 22855961
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; OMIM #614381
Hypogonadotropic hypogonadism v0.35 Chirag Patel Copied gene POLR3A from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.35 POLR3A Chirag Patel gene: POLR3A was added
gene: POLR3A was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Hypogonadotropic hypogonadism v0.34 Chirag Patel Copied gene PROK2 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.34 PROK2 Chirag Patel gene: PROK2 was added
gene: PROK2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROK2 were set to 18559922; 17054399; 17959774; 18285834
Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628)
Hypogonadotropic hypogonadism v0.33 Chirag Patel Copied gene PNPLA6 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.33 PNPLA6 Chirag Patel gene: PNPLA6 was added
gene: PNPLA6 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Expert list,Expert Review Green,Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25033069
Phenotypes for gene: PNPLA6 were set to Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020); Boucher-Neuhauser syndrome (215470)
Hypogonadotropic hypogonadism v0.32 Chirag Patel Copied gene PLXNA3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.32 PLXNA3 Chirag Patel gene: PLXNA3 was added
gene: PLXNA3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLXNA3 were set to PMID: 33495532
Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism v0.31 Chirag Patel Copied gene OTX2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.31 OTX2 Chirag Patel gene: OTX2 was added
gene: OTX2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Hypogonadotropic hypogonadism v0.30 NR0B1 Chirag Patel commented on gene: NR0B1
Hypogonadotropic hypogonadism v0.30 Chirag Patel Copied gene NR0B1 from panel Mendeliome
Hypogonadotropic hypogonadism v0.30 NR0B1 Chirag Patel gene: NR0B1 was added
gene: NR0B1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: NR0B1.
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NR0B1 were set to 19508677; 26030781
Phenotypes for gene: NR0B1 were set to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Hypogonadotropic hypogonadism v0.29 Chirag Patel Copied gene NOS1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.29 NOS1 Chirag Patel gene: NOS1 was added
gene: NOS1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOS1 were set to 36197968
Phenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555
Hypogonadotropic hypogonadism v0.28 Chirag Patel Copied gene LHX4 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.28 LHX4 Chirag Patel gene: LHX4 was added
gene: LHX4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX4.
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX4 were set to 18073311; 18445675; 11567216
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Hypogonadotropic hypogonadism v0.27 Chirag Patel Copied gene LHX3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.27 LHX3 Chirag Patel gene: LHX3 was added
gene: LHX3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX3.
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Hypogonadotropic hypogonadism v0.26 Chirag Patel Copied gene LHB from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.26 LHB Chirag Patel gene: LHB was added
gene: LHB was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LHB were set to 17761593; 28092701; 29476300; 22723313; 15602022
Phenotypes for gene: LHB were set to Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300)
Hypogonadotropic hypogonadism v0.25 Chirag Patel Copied gene KLB from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.25 KLB Chirag Patel gene: KLB was added
gene: KLB was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLB were set to 28754744
Phenotypes for gene: KLB were set to Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism v0.24 Chirag Patel Copied gene KISS1R from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.24 KISS1R Chirag Patel gene: KISS1R was added
gene: KISS1R was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KISS1R were set to 17164310; 31073722; 14573733
Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)
Hypogonadotropic hypogonadism v0.23 Chirag Patel Copied gene HID1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.23 HID1 Chirag Patel gene: HID1 was added
gene: HID1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Hypogonadotropic hypogonadism v0.22 HAMP Chirag Patel commented on gene: HAMP
Hypogonadotropic hypogonadism v0.22 HFE Chirag Patel commented on gene: HFE
Hypogonadotropic hypogonadism v0.22 HFE2 Chirag Patel commented on gene: HFE2
Hypogonadotropic hypogonadism v0.22 Chirag Patel Copied gene HAMP from panel Mendeliome
Hypogonadotropic hypogonadism v0.22 HAMP Chirag Patel gene: HAMP was added
gene: HAMP was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 12469120; 34828384; 15198949
Phenotypes for gene: HAMP were set to Haemochromatosis, type 2B, MIM# 613313
Hypogonadotropic hypogonadism v0.21 Chirag Patel Copied gene HESX1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.21 HESX1 Chirag Patel gene: HESX1 was added
gene: HESX1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Hypogonadotropic hypogonadism v0.20 Chirag Patel Copied gene HFE from panel Mendeliome
Hypogonadotropic hypogonadism v0.20 HFE Chirag Patel gene: HFE was added
gene: HFE was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200
Hypogonadotropic hypogonadism v0.19 Chirag Patel Copied gene HFE2 from panel Mendeliome
Hypogonadotropic hypogonadism v0.19 HFE2 Chirag Patel gene: HFE2 was added
gene: HFE2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
new gene name tags were added to gene: HFE2.
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, MIM# 602390
Hypogonadotropic hypogonadism v0.18 Chirag Patel Copied gene GNRHR from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.18 GNRHR Chirag Patel gene: GNRHR was added
gene: GNRHR was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)
Hypogonadotropic hypogonadism v0.17 Chirag Patel Copied gene GNRH1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.17 GNRH1 Chirag Patel gene: GNRH1 was added
gene: GNRH1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNRH1 were set to 19535795; 19567835; 32134721; 31200363; 26595427
Phenotypes for gene: GNRH1 were set to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Hypogonadotropic hypogonadism v0.16 Chirag Patel Copied gene GNAI2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.16 GNAI2 Chirag Patel gene: GNAI2 was added
gene: GNAI2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to 31036916; 40926810; 39298586
Phenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related
Hypogonadotropic hypogonadism v0.15 Chirag Patel Copied gene GLI3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.15 GLI3 Chirag Patel gene: GLI3 was added
gene: GLI3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 24736735; 15739154
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Hypogonadotropic hypogonadism v0.14 Chirag Patel Copied gene GLI2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.14 GLI2 Chirag Patel gene: GLI2 was added
gene: GLI2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI2 were set to 14581620; 25878059
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Hypogonadotropic hypogonadism v0.13 Chirag Patel Copied gene FSHB from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.13 FSHB Chirag Patel gene: FSHB was added
gene: FSHB was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSHB were set to 8220432; 9280841; 9624193; 9806482; 9271483; 16630814
Phenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070
Hypogonadotropic hypogonadism v0.12 Chirag Patel Copied gene FOXA2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.12 FOXA2 Chirag Patel gene: FOXA2 was added
gene: FOXA2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXA2 were set to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151
Phenotypes for gene: FOXA2 were set to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177
Hypogonadotropic hypogonadism v0.11 Chirag Patel Copied gene FGFR1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.11 FGFR1 Chirag Patel gene: FGFR1 was added
gene: FGFR1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR1 were set to 12627230, 18034870, 16606836, 15001591
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Hypogonadotropic hypogonadism v0.10 Chirag Patel Copied gene FGF8 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.10 FGF8 Chirag Patel gene: FGF8 was added
gene: FGF8 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF8 were set to 22319038; 21832120; 20463092
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Hypogonadotropic hypogonadism v0.9 Chirag Patel Copied gene FGF17 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.9 FGF17 Chirag Patel gene: FGF17 was added
gene: FGF17 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF17 were set to 23643382; 31748124
Hypogonadotropic hypogonadism v0.8 Chirag Patel Copied gene EIF2S3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.8 EIF2S3 Chirag Patel gene: EIF2S3 was added
gene: EIF2S3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genetic Health Queensland,Genetic Health Queensland
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148
Hypogonadotropic hypogonadism v0.7 Chirag Patel Copied gene DCAF17 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.7 DCAF17 Chirag Patel gene: DCAF17 was added
gene: DCAF17 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080
Hypogonadotropic hypogonadism v0.6 Chirag Patel Copied gene CUL4B from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.6 CUL4B Chirag Patel gene: CUL4B was added
gene: CUL4B was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to PMID: 25385192
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Hypogonadotropic hypogonadism v0.5 Chirag Patel Copied gene CHD7 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.5 CHD7 Chirag Patel gene: CHD7 was added
gene: CHD7 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 29152903; 30733481; 18834967
Phenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia (612370); CHARGE syndrome (214800)
Hypogonadotropic hypogonadism v0.4 Chirag Patel Copied gene BMP4 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.4 BMP4 Chirag Patel gene: BMP4 was added
gene: BMP4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 31120642, 24289245, 18252212, 35633847
Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6, MIM#607932
Hypogonadotropic hypogonadism v0.3 Chirag Patel Copied gene ARHGAP35 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.3 ARHGAP35 Chirag Patel gene: ARHGAP35 was added
gene: ARHGAP35 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to PMID: 36178483
Phenotypes for gene: ARHGAP35 were set to Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
Hypogonadotropic hypogonadism v0.2 Chirag Patel Copied gene ANOS1 from panel Mendeliome
Hypogonadotropic hypogonadism v0.2 ANOS1 Chirag Patel gene: ANOS1 was added
gene: ANOS1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ANOS1 were set to 1594017; 8504298; 8989261
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Hypogonadotropic hypogonadism v0.0 Chirag Patel Added Panel Hypogonadotropic hypogonadism