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Pituitary hormone deficiency v0.226 NLGN3 Chirag Patel reviewed gene: NLGN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36810932; Phenotypes: Hypogonadotropic hypogonadism MONDO:0018555; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v0.226 NLGN3 Chirag Patel Marked gene: NLGN3 as ready
Pituitary hormone deficiency v0.226 NLGN3 Chirag Patel Gene: nlgn3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.226 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
Pituitary hormone deficiency v0.225 NLGN3 Chirag Patel Classified gene: NLGN3 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.225 NLGN3 Chirag Patel Gene: nlgn3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.224 Chirag Patel Copied gene NLGN3 from panel Mendeliome
Pituitary hormone deficiency v0.224 NLGN3 Chirag Patel gene: NLGN3 was added
gene: NLGN3 was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.223 NEUROG3 Chirag Patel Marked gene: NEUROG3 as ready
Pituitary hormone deficiency v0.223 NEUROG3 Chirag Patel Gene: neurog3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.223 Chirag Patel Copied gene NEUROG3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.223 NEUROG3 Chirag Patel gene: NEUROG3 was added
gene: NEUROG3 was added to Pituitary hormone deficiency. Sources: Expert Review Green,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
Pituitary hormone deficiency v0.222 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
Pituitary hormone deficiency v0.221 LEPR Chirag Patel Marked gene: LEPR as ready
Pituitary hormone deficiency v0.221 LEPR Chirag Patel Gene: lepr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.221 LEPR Chirag Patel Publications for gene: LEPR were set to 17229951; 29545012
Pituitary hormone deficiency v0.220 LEPR Chirag Patel reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31658438; Phenotypes: Obesity due to leptin receptor gene deficiency, MONDO:0013992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.220 Chirag Patel Copied gene LEPR from panel Mendeliome
Pituitary hormone deficiency v0.220 LEPR Chirag Patel gene: LEPR was added
gene: LEPR was added to Pituitary hormone deficiency. 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)
Pituitary hormone deficiency v0.219 TBX3 Chirag Patel Marked gene: TBX3 as ready
Pituitary hormone deficiency v0.219 TBX3 Chirag Patel Gene: tbx3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.219 TBX3 Chirag Patel Publications for gene: TBX3 were set to 9207801; 19938096; 28145909
Pituitary hormone deficiency v0.218 Chirag Patel Added reviews for gene TBX3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.217 Chirag Patel Copied gene TBX3 from panel Radial Ray Abnormalities
Pituitary hormone deficiency v0.217 TBX3 Chirag Patel gene: TBX3 was added
gene: TBX3 was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.216 TUBB3 Chirag Patel Marked gene: TUBB3 as ready
Pituitary hormone deficiency v0.216 TUBB3 Chirag Patel Gene: tubb3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.216 Chirag Patel Copied gene TUBB3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.216 TUBB3 Chirag Patel gene: TUBB3 was added
gene: TUBB3 was added to Pituitary hormone deficiency. Sources: Expert Review Green,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
Pituitary hormone deficiency v0.215 POU6F2 Chirag Patel Marked gene: POU6F2 as ready
Pituitary hormone deficiency v0.215 POU6F2 Chirag Patel Gene: pou6f2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.215 Chirag Patel Copied gene POU6F2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.215 POU6F2 Chirag Patel gene: POU6F2 was added
gene: POU6F2 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,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
Pituitary hormone deficiency v0.214 RNF216 Chirag Patel Marked gene: RNF216 as ready
Pituitary hormone deficiency v0.214 RNF216 Chirag Patel Gene: rnf216 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.214 Chirag Patel Copied gene RNF216 from panel Differences of Sex Development
Pituitary hormone deficiency v0.214 RNF216 Chirag Patel gene: RNF216 was added
gene: RNF216 was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.213 PLXNB1 Chirag Patel Marked gene: PLXNB1 as ready
Pituitary hormone deficiency v0.213 PLXNB1 Chirag Patel Gene: plxnb1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.213 Chirag Patel Copied gene PLXNB1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.213 PLXNB1 Chirag Patel gene: PLXNB1 was added
gene: PLXNB1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,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
Pituitary hormone deficiency v0.212 SMCHD1 Chirag Patel Publications for gene: SMCHD1 were set to 28067909
Pituitary hormone deficiency v0.211 SMCHD1 Chirag Patel Marked gene: SMCHD1 as ready
Pituitary hormone deficiency v0.211 SMCHD1 Chirag Patel Gene: smchd1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.211 Chirag Patel Added reviews for gene SMCHD1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.210 Chirag Patel Copied gene SMCHD1 from panel Choanal atresia
Pituitary hormone deficiency v0.210 SMCHD1 Chirag Patel gene: SMCHD1 was added
gene: SMCHD1 was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.209 DLG2 Chirag Patel Marked gene: DLG2 as ready
Pituitary hormone deficiency v0.209 DLG2 Chirag Patel Gene: dlg2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.209 Chirag Patel Copied gene DLG2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.209 DLG2 Chirag Patel gene: DLG2 was added
gene: DLG2 was added to Pituitary hormone deficiency. 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 32341572
Phenotypes for gene: DLG2 were set to delayed puberty, self-limited, MONDO:0859205
Pituitary hormone deficiency v0.208 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
Pituitary hormone deficiency v0.207 NKX2-1 Chirag Patel Publications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969
Pituitary hormone deficiency v0.206 NKX2-1 Chirag Patel Classified gene: NKX2-1 as Red List (low evidence)
Pituitary hormone deficiency v0.206 NKX2-1 Chirag Patel Gene: nkx2-1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.205 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
Pituitary hormone deficiency v0.205 NKX2-1 Chirag Patel Classified gene: NKX2-1 as Red List (low evidence)
Pituitary hormone deficiency v0.205 NKX2-1 Chirag Patel Gene: nkx2-1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.204 Chirag Patel Copied gene NKX2-1 from panel Mendeliome
Pituitary hormone deficiency v0.204 NKX2-1 Chirag Patel gene: NKX2-1 was added
gene: NKX2-1 was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.203 Chirag Patel Copied gene ARHGAP5 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.203 ARHGAP5 Chirag Patel gene: ARHGAP5 was added
gene: ARHGAP5 was added to Pituitary hormone deficiency. Sources: Expert Review Red,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
Pituitary hormone deficiency v0.202 AMH Chirag Patel Marked gene: AMH as ready
Pituitary hormone deficiency v0.202 AMH Chirag Patel Gene: amh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.202 Chirag Patel Copied gene AMH from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.202 AMH Chirag Patel gene: AMH was added
gene: AMH was added to Pituitary hormone deficiency. Sources: Expert Review Amber,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
Pituitary hormone deficiency v0.201 SOX11 Chirag Patel Marked gene: SOX11 as ready
Pituitary hormone deficiency v0.201 SOX11 Chirag Patel Gene: sox11 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.201 Chirag Patel Copied gene SOX11 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.201 SOX11 Chirag Patel gene: SOX11 was added
gene: SOX11 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert Review,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
Pituitary hormone deficiency v0.200 Chirag Patel Added reviews for gene NDNF from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.199 RNPC3 Chirag Patel Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182
Pituitary hormone deficiency v0.198 RNPC3 Chirag Patel reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463572, 35792517, 34906446; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.198 RNPC3 Chirag Patel Deleted their review
Pituitary hormone deficiency v0.198 RNPC3 Chirag Patel reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463572, 35792517; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.198 PROKR2 Chirag Patel Deleted their comment
Pituitary hormone deficiency v0.198 POMC Chirag Patel Publications for gene: POMC were set to 33666293
Pituitary hormone deficiency v0.197 POMC Chirag Patel Marked gene: POMC as ready
Pituitary hormone deficiency v0.197 POMC Chirag Patel Gene: pomc has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.197 POMC Chirag Patel reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 40513101, 34177811, 29858905; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.197 Chirag Patel Copied gene POMC from panel Mendeliome
Pituitary hormone deficiency v0.197 POMC Chirag Patel gene: POMC was added
gene: POMC was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMC were set to 33666293
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Pituitary hormone deficiency v0.196 PCSK1 Chirag Patel Marked gene: PCSK1 as ready
Pituitary hormone deficiency v0.196 PCSK1 Chirag Patel Gene: pcsk1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.196 Chirag Patel Copied gene PCSK1 from panel Adrenal insufficiency
Pituitary hormone deficiency v0.196 PCSK1 Chirag Patel gene: PCSK1 was added
gene: PCSK1 was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.195 SLC40A1 Chirag Patel Classified gene: SLC40A1 as Red List (low evidence)
Pituitary hormone deficiency v0.195 SLC40A1 Chirag Patel Gene: slc40a1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.194 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.
Pituitary hormone deficiency v0.194 HAMP Chirag Patel Classified gene: HAMP as Red List (low evidence)
Pituitary hormone deficiency v0.194 HAMP Chirag Patel Gene: hamp has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.193 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.
Pituitary hormone deficiency v0.193 TFR2 Chirag Patel Classified gene: TFR2 as Red List (low evidence)
Pituitary hormone deficiency v0.193 TFR2 Chirag Patel Gene: tfr2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.192 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.
Pituitary hormone deficiency v0.192 HFE Chirag Patel changed review comment from: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.; to: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.
Pituitary hormone deficiency v0.192 HFE2 Chirag Patel Classified gene: HFE2 as Red List (low evidence)
Pituitary hormone deficiency v0.192 HFE2 Chirag Patel Gene: hfe2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.191 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.
Pituitary hormone deficiency v0.191 HFE2 Chirag Patel Deleted their comment
Pituitary hormone deficiency v0.191 HFE2 Chirag Patel edited their review of gene: HFE2: Added comment: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.; Changed rating: RED
Pituitary hormone deficiency v0.191 HFE Chirag Patel changed review comment from: Late complication of disease with low lifetime penetrance - not suitable for this panel.; to: Hypogonadotropic hypogonadism is late complication of disease with low lifetime penetrance - not suitable for this panel.
Pituitary hormone deficiency v0.191 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.
Pituitary hormone deficiency v0.191 HFE Chirag Patel Classified gene: HFE as Red List (low evidence)
Pituitary hormone deficiency v0.191 HFE Chirag Patel Gene: hfe has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.190 Chirag Patel Added reviews for gene HFE2 from panel Monogenic Diabetes
Pituitary hormone deficiency v0.189 Chirag Patel Added reviews for gene HFE from panel Monogenic Diabetes
Pituitary hormone deficiency v0.188 CPE Chirag Patel Publications for gene: CPE were set to 26120850; 32936766; 34383079
Pituitary hormone deficiency v0.187 CPE Chirag Patel Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 to BDV syndrome MONDO:0859150
Pituitary hormone deficiency v0.186 CPE Chirag Patel Marked gene: CPE as ready
Pituitary hormone deficiency v0.186 CPE Chirag Patel Gene: cpe has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.186 CPE Chirag Patel reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 34383079, 26120850,32936766; Phenotypes: BDV syndrome MONDO:0859150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.186 Chirag Patel Copied gene CPE from panel Mendeliome
Pituitary hormone deficiency v0.186 CPE Chirag Patel gene: CPE was added
gene: CPE was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.185 Chirag Patel Copied gene NRP1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.185 NRP1 Chirag Patel gene: NRP1 was added
gene: NRP1 was added to Pituitary hormone deficiency. Sources: Expert Review Red,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
Pituitary hormone deficiency v0.184 NRP2 Chirag Patel Marked gene: NRP2 as ready
Pituitary hormone deficiency v0.184 NRP2 Chirag Patel Gene: nrp2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.184 Chirag Patel Copied gene NRP2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.184 NRP2 Chirag Patel gene: NRP2 was added
gene: NRP2 was added to Pituitary hormone deficiency. Sources: Expert Review Red,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
Pituitary hormone deficiency v0.183 PLXNA1 Chirag Patel Marked gene: PLXNA1 as ready
Pituitary hormone deficiency v0.183 PLXNA1 Chirag Patel Gene: plxna1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.183 Chirag Patel Copied gene PLXNA1 from panel Differences of Sex Development
Pituitary hormone deficiency v0.183 PLXNA1 Chirag Patel gene: PLXNA1 was added
gene: PLXNA1 was added to Pituitary hormone deficiency. 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
Pituitary hormone deficiency v0.182 TTC26 Chirag Patel Marked gene: TTC26 as ready
Pituitary hormone deficiency v0.182 TTC26 Chirag Patel Gene: ttc26 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.182 Chirag Patel Copied gene TTC26 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.182 TTC26 Chirag Patel gene: TTC26 was added
gene: TTC26 was added to Pituitary hormone deficiency. Sources: Expert Review Red,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
Pituitary hormone deficiency v0.181 AKT3 Chirag Patel Marked gene: AKT3 as ready
Pituitary hormone deficiency v0.181 AKT3 Chirag Patel Gene: akt3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.181 AKT3 Chirag Patel gene: AKT3 was added
gene: AKT3 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT3 were set to 38459620; 28190287
Phenotypes for gene: AKT3 were set to overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Review for gene: AKT3 was set to RED
Added comment: ClinGen DEFINITIVE association (Jul 2021) with GOF mechanism and only missense variants reported.

PMID 35665751 reports 1 individual with a de novo AKT3 p.Gln78Arg gain‑of‑function variant causing congenital hypothyroidism (thyroid hypogenesis), megalencephaly and polymicrogyria. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth hormone deficiency and central hypothyroidism.


PMID 28190287 reports 1 individual with a de novo AKT3 p.Glu40Lys gain‑of‑function variant causing childhood‑onset megalencephaly, hypotonia, connective‑tissue laxity and growth‑hormone deficiency. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth‑hormone deficiency and central hypothyroidism.
Sources: Literature
Pituitary hormone deficiency v0.180 KCNQ1 Chirag Patel Publications for gene: KCNQ1 were set to 29097701
Pituitary hormone deficiency v0.179 KCNQ1 Chirag Patel Phenotypes for gene: KCNQ1 were changed from Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500) to Hypopituitarism, MONDO:0005152
Pituitary hormone deficiency v0.178 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Green List (high evidence)
Pituitary hormone deficiency v0.178 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.177 KCNQ1 Chirag Patel edited their review of gene: KCNQ1: Added comment: Additional 1 individual with a rare heterozygous missense KCNQ1 variant (p.P369L) presenting with childhood‑onset central hypothyroidism as part of multiple pituitary hormone deficiency (GH, ACTH, TSH, hypogonadotropic hypogonadism), gingival fibromatosis, dysmorphic facial features, and short stature. The variant was inherited from his unaffected mother.; Changed rating: GREEN; Changed publications: 38987191
Pituitary hormone deficiency v0.177 MAGEL2 Chirag Patel Marked gene: MAGEL2 as ready
Pituitary hormone deficiency v0.177 MAGEL2 Chirag Patel Gene: magel2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.177 Chirag Patel Copied gene MAGEL2 from panel Mendeliome
Pituitary hormone deficiency v0.177 MAGEL2 Chirag Patel gene: MAGEL2 was added
gene: MAGEL2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MAGEL2 were set to 33820833; 24076603; 31397880; 29599419; 30302899
Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, MIM# 615547
Pituitary hormone deficiency v0.176 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
Pituitary hormone deficiency v0.175 NDNF Zornitza Stark edited their review of gene: NDNF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.175 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
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Marked gene: RUNDC1 as ready
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Classified gene: RUNDC1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.174 RUNDC1 Zornitza Stark reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.174 RUNDC1 Lilian Downie gene: RUNDC1 was added
gene: RUNDC1 was added to Pituitary hormone deficiency. Sources: Other
Mode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies
Added comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay.
Dr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together)
Sources: Other
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel Marked gene: NFKB2 as ready
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel Gene: nfkb2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.173 Chirag Patel Copied gene NFKB2 from panel Mendeliome
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel gene: NFKB2 was added
gene: NFKB2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 24140114; 24888602; 25524009; 31417880
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency
Pituitary hormone deficiency v0.172 FGF17 Chirag Patel Phenotypes for gene: FGF17 were changed from to Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270
Pituitary hormone deficiency v0.171 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Pituitary hormone deficiency v0.171 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Pituitary hormone deficiency v0.170 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Pituitary hormone deficiency v0.170 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Pituitary hormone deficiency v0.169 GHSR Zornitza Stark Publications for gene: GHSR were set to 19789204; 25557026; 16511605
Pituitary hormone deficiency v0.168 GHSR Zornitza Stark Classified gene: GHSR as Green List (high evidence)
Pituitary hormone deficiency v0.168 GHSR Zornitza Stark Gene: ghsr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.167 GHSR Zornitza Stark edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562
Pituitary hormone deficiency v0.167 Zornitza Stark Added reviews for gene GHSR from panel Mendeliome
Pituitary hormone deficiency v0.166 ZSWIM6 Chirag Patel Marked gene: ZSWIM6 as ready
Pituitary hormone deficiency v0.166 ZSWIM6 Chirag Patel Gene: zswim6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.166 ZIC2 Chirag Patel Marked gene: ZIC2 as ready
Pituitary hormone deficiency v0.166 ZIC2 Chirag Patel Gene: zic2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.166 SLC20A1 Chirag Patel Mode of inheritance for gene: SLC20A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Marked gene: SLC20A1 as ready
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Gene: slc20a1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Phenotypes for gene: SLC20A1 were changed from No OMIM number to Bladder-Exstrophy-Epispadias Complex (BEEC)
Pituitary hormone deficiency v0.164 SLC15A4 Chirag Patel Marked gene: SLC15A4 as ready
Pituitary hormone deficiency v0.164 SLC15A4 Chirag Patel Gene: slc15a4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 SIX3 Chirag Patel Marked gene: SIX3 as ready
Pituitary hormone deficiency v0.164 SIX3 Chirag Patel Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 SEMA3E Chirag Patel Marked gene: SEMA3E as ready
Pituitary hormone deficiency v0.164 SEMA3E Chirag Patel Gene: sema3e has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PTCH1 Chirag Patel Marked gene: PTCH1 as ready
Pituitary hormone deficiency v0.164 PTCH1 Chirag Patel Gene: ptch1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PSTPIP1 Chirag Patel Marked gene: PSTPIP1 as ready
Pituitary hormone deficiency v0.164 PSTPIP1 Chirag Patel Gene: pstpip1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PAX6 Chirag Patel Marked gene: PAX6 as ready
Pituitary hormone deficiency v0.164 PAX6 Chirag Patel Gene: pax6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NSMF Chirag Patel Marked gene: NSMF as ready
Pituitary hormone deficiency v0.164 NSMF Chirag Patel Gene: nsmf has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Marked gene: NODAL as ready
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Gene: nodal has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Phenotypes for gene: NODAL were changed from Holoprosencephaly; Heterotaxy, visceral, 5 (270100) to Heterotaxy, visceral, 5 (270100)
Pituitary hormone deficiency v0.163 NHLH2 Chirag Patel Marked gene: NHLH2 as ready
Pituitary hormone deficiency v0.163 NHLH2 Chirag Patel Gene: nhlh2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 IL17RD Chirag Patel Marked gene: IL17RD as ready
Pituitary hormone deficiency v0.163 IL17RD Chirag Patel Gene: il17rd has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HS6ST1 Chirag Patel Marked gene: HS6ST1 as ready
Pituitary hormone deficiency v0.163 HS6ST1 Chirag Patel Gene: hs6st1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HNRNPU Chirag Patel Marked gene: HNRNPU as ready
Pituitary hormone deficiency v0.163 HNRNPU Chirag Patel Gene: hnrnpu has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HHIP Chirag Patel Marked gene: HHIP as ready
Pituitary hormone deficiency v0.163 HHIP Chirag Patel Gene: hhip has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 GPR161 Chirag Patel Marked gene: GPR161 as ready
Pituitary hormone deficiency v0.163 GPR161 Chirag Patel Gene: gpr161 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 GHRH Chirag Patel Marked gene: GHRH as ready
Pituitary hormone deficiency v0.163 GHRH Chirag Patel Gene: ghrh has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Marked gene: FOXH1 as ready
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Gene: foxh1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Mode of inheritance for gene: FOXH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.162 FLRT3 Chirag Patel Marked gene: FLRT3 as ready
Pituitary hormone deficiency v0.162 FLRT3 Chirag Patel Gene: flrt3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 DUSP6 Chirag Patel Marked gene: DUSP6 as ready
Pituitary hormone deficiency v0.162 DUSP6 Chirag Patel Gene: dusp6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 BMP2 Chirag Patel Marked gene: BMP2 as ready
Pituitary hormone deficiency v0.162 BMP2 Chirag Patel Gene: bmp2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 AXL Chirag Patel Marked gene: AXL as ready
Pituitary hormone deficiency v0.162 AXL Chirag Patel Gene: axl has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 TGIF1 Chirag Patel Marked gene: TGIF1 as ready
Pituitary hormone deficiency v0.162 TGIF1 Chirag Patel Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 SPRY4 Chirag Patel Marked gene: SPRY4 as ready
Pituitary hormone deficiency v0.162 SPRY4 Chirag Patel Gene: spry4 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 SHH Chirag Patel Marked gene: SHH as ready
Pituitary hormone deficiency v0.162 SHH Chirag Patel Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 PRDM13 Chirag Patel Marked gene: PRDM13 as ready
Pituitary hormone deficiency v0.162 PRDM13 Chirag Patel Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 NDNF Chirag Patel Marked gene: NDNF as ready
Pituitary hormone deficiency v0.162 NDNF Chirag Patel Gene: ndnf has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 KISS1 Chirag Patel Marked gene: KISS1 as ready
Pituitary hormone deficiency v0.162 KISS1 Chirag Patel Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 FEZF1 Chirag Patel Marked gene: FEZF1 as ready
Pituitary hormone deficiency v0.162 FEZF1 Chirag Patel Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 CLPP Chirag Patel Marked gene: CLPP as ready
Pituitary hormone deficiency v0.162 CLPP Chirag Patel Gene: clpp has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 CCDC141 Chirag Patel Marked gene: CCDC141 as ready
Pituitary hormone deficiency v0.162 CCDC141 Chirag Patel Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 ARNT2 Chirag Patel Marked gene: ARNT2 as ready
Pituitary hormone deficiency v0.162 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Marked gene: TFR2 as ready
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Gene: tfr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Mode of inheritance for gene: TFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.161 TFR2 Chirag Patel Mode of inheritance for gene: TFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.160 TCF12 Chirag Patel Marked gene: TCF12 as ready
Pituitary hormone deficiency v0.160 TCF12 Chirag Patel Gene: tcf12 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TBX19 Chirag Patel Marked gene: TBX19 as ready
Pituitary hormone deficiency v0.160 TBX19 Chirag Patel Gene: tbx19 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TACR3 Chirag Patel Marked gene: TACR3 as ready
Pituitary hormone deficiency v0.160 TACR3 Chirag Patel Gene: tacr3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TAC3 Chirag Patel Marked gene: TAC3 as ready
Pituitary hormone deficiency v0.160 TAC3 Chirag Patel Gene: tac3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SOX2 Chirag Patel Marked gene: SOX2 as ready
Pituitary hormone deficiency v0.160 SOX2 Chirag Patel Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SOX10 Chirag Patel Marked gene: SOX10 as ready
Pituitary hormone deficiency v0.160 SOX10 Chirag Patel Gene: sox10 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SLC40A1 Chirag Patel Marked gene: SLC40A1 as ready
Pituitary hormone deficiency v0.160 SLC40A1 Chirag Patel Gene: slc40a1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SLC29A3 Chirag Patel Marked gene: SLC29A3 as ready
Pituitary hormone deficiency v0.160 SLC29A3 Chirag Patel Gene: slc29a3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SEMA3F Chirag Patel Marked gene: SEMA3F as ready
Pituitary hormone deficiency v0.160 SEMA3F Chirag Patel Gene: sema3f has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SEMA3A Chirag Patel Marked gene: SEMA3A as ready
Pituitary hormone deficiency v0.160 SEMA3A Chirag Patel Gene: sema3a has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PROP1 Chirag Patel Marked gene: PROP1 as ready
Pituitary hormone deficiency v0.160 PROP1 Chirag Patel Gene: prop1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PROK2 Chirag Patel Marked gene: PROK2 as ready
Pituitary hormone deficiency v0.160 PROK2 Chirag Patel Gene: prok2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PNPLA6 Chirag Patel Marked gene: PNPLA6 as ready
Pituitary hormone deficiency v0.160 PNPLA6 Chirag Patel Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PLXNA3 Chirag Patel Marked gene: PLXNA3 as ready
Pituitary hormone deficiency v0.160 PLXNA3 Chirag Patel Gene: plxna3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PITX2 Chirag Patel Marked gene: PITX2 as ready
Pituitary hormone deficiency v0.160 PITX2 Chirag Patel Gene: pitx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 OTX2 Chirag Patel Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.160 OTX2 Chirag Patel Gene: otx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 NR0B1 Chirag Patel Phenotypes for gene: NR0B1 were changed from Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018 to Adrenal hypoplasia, congenital (MIM# 300200)
Pituitary hormone deficiency v0.159 NR0B1 Chirag Patel Marked gene: NR0B1 as ready
Pituitary hormone deficiency v0.159 NR0B1 Chirag Patel Gene: nr0b1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHX4 Chirag Patel Marked gene: LHX4 as ready
Pituitary hormone deficiency v0.159 LHX4 Chirag Patel Gene: lhx4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHX3 Chirag Patel Marked gene: LHX3 as ready
Pituitary hormone deficiency v0.159 LHX3 Chirag Patel Gene: lhx3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHB Chirag Patel Marked gene: LHB as ready
Pituitary hormone deficiency v0.159 LHB Chirag Patel Gene: lhb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KLB Chirag Patel Marked gene: KLB as ready
Pituitary hormone deficiency v0.159 KLB Chirag Patel Gene: klb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KISS1R Chirag Patel Marked gene: KISS1R as ready
Pituitary hormone deficiency v0.159 KISS1R Chirag Patel Gene: kiss1r has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.159 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.158 HFE2 Chirag Patel Marked gene: HFE2 as ready
Pituitary hormone deficiency v0.158 HFE2 Chirag Patel Gene: hfe2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HFE Chirag Patel Marked gene: HFE as ready
Pituitary hormone deficiency v0.158 HFE Chirag Patel Gene: hfe has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HESX1 Chirag Patel Marked gene: HESX1 as ready
Pituitary hormone deficiency v0.158 HESX1 Chirag Patel Gene: hesx1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HAMP Chirag Patel Marked gene: HAMP as ready
Pituitary hormone deficiency v0.158 HAMP Chirag Patel Gene: hamp has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GNRHR Chirag Patel Marked gene: GNRHR as ready
Pituitary hormone deficiency v0.158 GNRHR Chirag Patel Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GNRH1 Chirag Patel Marked gene: GNRH1 as ready
Pituitary hormone deficiency v0.158 GNRH1 Chirag Patel Gene: gnrh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Marked gene: GLI3 as ready
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Publications for gene: GLI3 were set to 24736735; 15739154
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Marked gene: GLI2 as ready
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Gene: gli2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Publications for gene: GLI2 were set to 14581620; 25878059
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Marked gene: GHRHR as ready
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Gene: ghrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Publications for gene: GHRHR were set to
Pituitary hormone deficiency v0.155 GHR Chirag Patel Marked gene: GHR as ready
Pituitary hormone deficiency v0.155 GHR Chirag Patel Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.155 GHR Chirag Patel Mode of inheritance for gene: GHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.154 GHR Chirag Patel Publications for gene: GHR were set to
Pituitary hormone deficiency v0.153 GH1 Chirag Patel Publications for gene: GH1 were set to
Pituitary hormone deficiency v0.152 GH1 Chirag Patel Marked gene: GH1 as ready
Pituitary hormone deficiency v0.152 GH1 Chirag Patel Gene: gh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FSHB Chirag Patel Marked gene: FSHB as ready
Pituitary hormone deficiency v0.152 FSHB Chirag Patel Gene: fshb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FOXA2 Chirag Patel Marked gene: FOXA2 as ready
Pituitary hormone deficiency v0.152 FOXA2 Chirag Patel Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGFR1 Chirag Patel Marked gene: FGFR1 as ready
Pituitary hormone deficiency v0.152 FGFR1 Chirag Patel Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGF8 Chirag Patel Marked gene: FGF8 as ready
Pituitary hormone deficiency v0.152 FGF8 Chirag Patel Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGF17 Chirag Patel Marked gene: FGF17 as ready
Pituitary hormone deficiency v0.152 FGF17 Chirag Patel Gene: fgf17 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 DCAF17 Chirag Patel Marked gene: DCAF17 as ready
Pituitary hormone deficiency v0.152 DCAF17 Chirag Patel Gene: dcaf17 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 CUL4B Chirag Patel Marked gene: CUL4B as ready
Pituitary hormone deficiency v0.152 CUL4B Chirag Patel Gene: cul4b has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 BRAF Chirag Patel Marked gene: BRAF as ready
Pituitary hormone deficiency v0.152 BRAF Chirag Patel Gene: braf has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 BMP4 Chirag Patel Marked gene: BMP4 as ready
Pituitary hormone deficiency v0.152 BMP4 Chirag Patel Gene: bmp4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 ARHGAP35 Chirag Patel Marked gene: ARHGAP35 as ready
Pituitary hormone deficiency v0.152 ARHGAP35 Chirag Patel Gene: arhgap35 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 ANOS1 Chirag Patel Marked gene: ANOS1 as ready
Pituitary hormone deficiency v0.152 ANOS1 Chirag Patel Gene: anos1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 ZSWIM6 Chirag Patel reviewed gene: ZSWIM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.152 Chirag Patel Added reviews for gene ZSWIM6 from panel Mendeliome
Pituitary hormone deficiency v0.151 ZIC2 Chirag Patel reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.151 Chirag Patel Added reviews for gene ZIC2 from panel Mendeliome
Pituitary hormone deficiency v0.150 SLC20A1 Chirag Patel reviewed gene: SLC20A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.150 Chirag Patel Added reviews for gene SLC20A1 from panel Mendeliome
Pituitary hormone deficiency v0.149 SLC15A4 Chirag Patel reviewed gene: SLC15A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.149 PTCH1 Chirag Patel edited their review of gene: PTCH1: Added comment: Pituitary hormone deficiency not a known feature.; Changed rating: RED
Pituitary hormone deficiency v0.149 Chirag Patel Added reviews for gene PTCH1 from panel Holoprosencephaly and septo-optic dysplasia
Pituitary hormone deficiency v0.148 PSTPIP1 Chirag Patel reviewed gene: PSTPIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.148 PAX6 Chirag Patel reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.148 Chirag Patel Added reviews for gene PAX6 from panel Mendeliome
Pituitary hormone deficiency v0.147 NODAL Chirag Patel reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.147 Chirag Patel Added reviews for gene NODAL from panel Mendeliome
Pituitary hormone deficiency v0.146 HNRNPU Chirag Patel reviewed gene: HNRNPU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.146 Chirag Patel Added reviews for gene HNRNPU from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.145 HHIP Chirag Patel reviewed gene: HHIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.145 GPR161 Chirag Patel Mode of inheritance for gene: GPR161 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.144 Chirag Patel Added reviews for gene GPR161 from panel Growth failure
Pituitary hormone deficiency v0.143 GHRH Chirag Patel reviewed gene: GHRH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.143 FOXH1 Chirag Patel reviewed gene: FOXH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.143 BMP2 Chirag Patel commented on gene: BMP2
Pituitary hormone deficiency v0.143 Chirag Patel Copied gene HFE2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.143 HFE2 Chirag Patel gene: HFE2 was added
gene: HFE2 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.142 Chirag Patel Copied gene HFE from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.142 HFE Chirag Patel gene: HFE was added
gene: HFE was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.141 Chirag Patel Copied gene HAMP from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.141 HAMP Chirag Patel gene: HAMP was added
gene: HAMP was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.140 Chirag Patel Copied gene GNRH1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.140 GNRH1 Chirag Patel gene: GNRH1 was added
gene: GNRH1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.139 Chirag Patel Copied gene FSHB from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.139 FSHB Chirag Patel gene: FSHB was added
gene: FSHB was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
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
Pituitary hormone deficiency v0.138 Chirag Patel Copied gene FLRT3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.138 FLRT3 Chirag Patel gene: FLRT3 was added
gene: FLRT3 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Red,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)
Pituitary hormone deficiency v0.137 Chirag Patel Copied gene FGF17 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.137 FGF17 Chirag Patel gene: FGF17 was added
gene: FGF17 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.136 Chirag Patel Copied gene FEZF1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.136 FEZF1 Chirag Patel gene: FEZF1 was added
gene: FEZF1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Amber
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
Pituitary hormone deficiency v0.135 Chirag Patel Copied gene DUSP6 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.135 DUSP6 Chirag Patel gene: DUSP6 was added
gene: DUSP6 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Red
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
Pituitary hormone deficiency v0.134 Chirag Patel Copied gene DCAF17 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.134 DCAF17 Chirag Patel gene: DCAF17 was added
gene: DCAF17 was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Green,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
Pituitary hormone deficiency v0.133 Chirag Patel Copied gene CUL4B from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.133 CUL4B Chirag Patel gene: CUL4B was added
gene: CUL4B was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green,Expert Review Green,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
Pituitary hormone deficiency v0.132 Chirag Patel Copied gene CLPP from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.132 CLPP Chirag Patel gene: CLPP was added
gene: CLPP was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Amber,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
Pituitary hormone deficiency v0.131 Chirag Patel Copied gene CCDC141 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.131 CCDC141 Chirag Patel gene: CCDC141 was added
gene: CCDC141 was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Amber,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
Pituitary hormone deficiency v0.130 Chirag Patel Copied gene AXL from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.130 AXL Chirag Patel gene: AXL was added
gene: AXL was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Red,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
Pituitary hormone deficiency v0.129 Chirag Patel Copied gene ARHGAP35 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.129 ARHGAP35 Chirag Patel gene: ARHGAP35 was added
gene: ARHGAP35 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,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
Pituitary hormone deficiency v0.128 Chirag Patel Copied gene ANOS1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.128 ANOS1 Chirag Patel gene: ANOS1 was added
gene: ANOS1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.127 Chirag Patel Copied gene TFR2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.127 TFR2 Chirag Patel gene: TFR2 was added
gene: TFR2 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
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)
Pituitary hormone deficiency v0.126 Chirag Patel Copied gene TCF12 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.126 TCF12 Chirag Patel gene: TCF12 was added
gene: TCF12 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,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
Pituitary hormone deficiency v0.125 Chirag Patel Copied gene TACR3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.125 TACR3 Chirag Patel gene: TACR3 was added
gene: TACR3 was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Green,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
Pituitary hormone deficiency v0.124 Chirag Patel Copied gene TAC3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.124 TAC3 Chirag Patel gene: TAC3 was added
gene: TAC3 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
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)
Pituitary hormone deficiency v0.123 Chirag Patel Copied gene SPRY4 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.123 SPRY4 Chirag Patel gene: SPRY4 was added
gene: SPRY4 was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Amber,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
Pituitary hormone deficiency v0.122 Chirag Patel Copied gene SOX10 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.122 SOX10 Chirag Patel gene: SOX10 was added
gene: SOX10 was added to Pituitary hormone deficiency. Sources: Expert Review,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
Pituitary hormone deficiency v0.121 Chirag Patel Copied gene SLC40A1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.121 SLC40A1 Chirag Patel gene: SLC40A1 was added
gene: SLC40A1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.120 Chirag Patel Copied gene SLC29A3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.120 SLC29A3 Chirag Patel gene: SLC29A3 was added
gene: SLC29A3 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.119 Chirag Patel Copied gene SEMA3F from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.119 SEMA3F Chirag Patel gene: SEMA3F was added
gene: SEMA3F was added to Pituitary hormone deficiency. Sources: Literature,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
Pituitary hormone deficiency v0.118 Chirag Patel Copied gene SEMA3E from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.118 SEMA3E Chirag Patel gene: SEMA3E was added
gene: SEMA3E was added to Pituitary hormone deficiency. Sources: Expert Review,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)
Pituitary hormone deficiency v0.117 Chirag Patel Copied gene SEMA3A from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.117 SEMA3A Chirag Patel gene: SEMA3A was added
gene: SEMA3A was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Green,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
Pituitary hormone deficiency v0.116 Chirag Patel Copied gene PROK2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.116 PROK2 Chirag Patel gene: PROK2 was added
gene: PROK2 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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)
Pituitary hormone deficiency v0.115 Chirag Patel Copied gene PRDM13 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.115 PRDM13 Chirag Patel gene: PRDM13 was added
gene: PRDM13 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Amber,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
Pituitary hormone deficiency v0.114 Chirag Patel Copied gene PLXNA3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.114 PLXNA3 Chirag Patel gene: PLXNA3 was added
gene: PLXNA3 was added to Pituitary hormone deficiency. Sources: Literature,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
Pituitary hormone deficiency v0.113 Chirag Patel Copied gene NSMF from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.113 NSMF Chirag Patel gene: NSMF was added
gene: NSMF was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Red,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
Pituitary hormone deficiency v0.112 Chirag Patel Copied gene NR0B1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.112 NR0B1 Chirag Patel gene: NR0B1 was added
gene: NR0B1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Pituitary hormone deficiency v0.111 Chirag Patel Copied gene NHLH2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.111 NHLH2 Chirag Patel gene: NHLH2 was added
gene: NHLH2 was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Red,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
Pituitary hormone deficiency v0.110 Chirag Patel Copied gene NDNF from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.110 NDNF Chirag Patel gene: NDNF was added
gene: NDNF was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Amber,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
Pituitary hormone deficiency v0.109 Chirag Patel Copied gene LHB from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.109 LHB Chirag Patel gene: LHB was added
gene: LHB was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
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)
Pituitary hormone deficiency v0.108 Chirag Patel Copied gene KLB from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.108 KLB Chirag Patel gene: KLB was added
gene: KLB was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,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
Pituitary hormone deficiency v0.107 Chirag Patel Copied gene KISS1R from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.107 KISS1R Chirag Patel gene: KISS1R was added
gene: KISS1R was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
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)
Pituitary hormone deficiency v0.106 Chirag Patel Copied gene KISS1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.106 KISS1 Chirag Patel gene: KISS1 was added
gene: KISS1 was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Amber,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
Pituitary hormone deficiency v0.105 Chirag Patel Copied gene IL17RD from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.105 IL17RD Chirag Patel gene: IL17RD was added
gene: IL17RD was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,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
Pituitary hormone deficiency v0.104 Chirag Patel Copied gene HS6ST1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.104 HS6ST1 Chirag Patel gene: HS6ST1 was added
gene: HS6ST1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Red,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
Pituitary hormone deficiency v0.102 TBC1D32 Chirag Patel Publications for gene: TBC1D32 were set to 32573025; 32060556
Pituitary hormone deficiency v0.101 TBC1D32 Chirag Patel reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332; Phenotypes: Orofacial digital syndrome type IX, MIM#258865; Mode of inheritance: None
Pituitary hormone deficiency v0.101 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.100 Chirag Patel Added reviews for gene ARNT2 from panel Mendeliome
Pituitary hormone deficiency v0.99 ARNT2 Chirag Patel Publications for gene: ARNT2 were set to 24022475
Pituitary hormone deficiency v0.98 ARNT2 Chirag Patel Phenotypes for gene: ARNT2 were changed from ?Webb-Dattani syndrome (615926) to Webb-Dattani syndrome 615926
Pituitary hormone deficiency v0.97 ARNT2 Chirag Patel Classified gene: ARNT2 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.97 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.96 Chirag Patel Added reviews for gene ARNT2 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.95 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.94 TBC1D32 Chirag Patel Classified gene: TBC1D32 as Green List (high evidence)
Pituitary hormone deficiency v0.94 TBC1D32 Chirag Patel Gene: tbc1d32 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.93 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.92 ESRP2 Chirag Patel Classified gene: ESRP2 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.92 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.91 RAX Chirag Patel Marked gene: RAX as ready
Pituitary hormone deficiency v0.91 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.91 RAX Chirag Patel Classified gene: RAX as Amber List (moderate evidence)
Pituitary hormone deficiency v0.91 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.90 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Pituitary hormone deficiency. Sources: 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
Review for gene: RAX was set to AMBER
Added comment: Established association with bilateral microphthalmia or anophthalmia.

2 cases reported with congenital hypopituitarism.

RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality
Sources: Literature
Pituitary hormone deficiency v0.89 EIF2S3 Chirag Patel Marked gene: EIF2S3 as ready
Pituitary hormone deficiency v0.89 EIF2S3 Chirag Patel Gene: eif2s3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.89 Chirag Patel Copied gene EIF2S3 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.89 EIF2S3 Chirag Patel gene: EIF2S3 was added
gene: EIF2S3 was added to Pituitary hormone deficiency. Sources: Expert Review Green,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
Pituitary hormone deficiency v0.88 POLR3B Chirag Patel Marked gene: POLR3B as ready
Pituitary hormone deficiency v0.88 POLR3B Chirag Patel Gene: polr3b has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.88 Chirag Patel Copied gene POLR3B from panel Differences of Sex Development
Pituitary hormone deficiency v0.88 POLR3B Chirag Patel gene: POLR3B was added
gene: POLR3B was added to Pituitary hormone deficiency. Sources: Expert Review Green,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
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel edited their review of gene: POLR3A: Added comment: ClinGen Definitive
POLR3A variants associated with tremor-ataxia with central hypomyelination (TACH), leukodystrophy with oligodontia (LO), and hypomyelination, hypodontia and hypogonadotropic hypogonadism (4H).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Marked gene: POLR3A as ready
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Gene: polr3a has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Added comment: Comment on phenotypes: POLR3A-related disorder MONDO:0700276
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Pituitary hormone deficiency v0.86 POLR3A Chirag Patel Classified gene: POLR3A as Green List (high evidence)
Pituitary hormone deficiency v0.86 POLR3A Chirag Patel Gene: polr3a has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.85 Chirag Patel Added reviews for gene POLR3A from panel Mendeliome
Pituitary hormone deficiency v0.84 ESRP2 Chirag Patel Classified gene: ESRP2 as Green List (high evidence)
Pituitary hormone deficiency v0.84 ESRP2 Chirag Patel Gene: esrp2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Marked gene: WDR11 as ready
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Gene: wdr11 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Classified gene: WDR11 as Green List (high evidence)
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Gene: wdr11 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.82 Chirag Patel Added reviews for gene WDR11 from panel Primary Ovarian Insufficiency_Premature Ovarian Failure
Pituitary hormone deficiency v0.80 HID1 Lucy Spencer Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Pituitary hormone deficiency v0.79 GPR161 Lucy Spencer Phenotypes for gene: GPR161 were changed from No OMIM number; pituitary stalk interruption syndrome to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related
Pituitary hormone deficiency v0.78 NOS1 Chirag Patel Classified gene: NOS1 as Green List (high evidence)
Pituitary hormone deficiency v0.78 NOS1 Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.77 NOS1 Chirag Patel Marked gene: NOS1 as ready
Pituitary hormone deficiency v0.77 NOS1 Chirag Patel Gene: nos1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.77 NOS1 Chirag Patel gene: NOS1 was added
gene: NOS1 was added to Pituitary hormone deficiency. Sources: 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
Review for gene: NOS1 was set to GREEN
Added comment: 6 unrelated individuals with congenital hypogonadotropic hypogonadism, anosmia (3/6), hearing loss (2/6), and intellectual disability (1/6). WES identified 5 rare heterozygous missense variants in NOS1 gene. The variant was inherited from an unaffected or partially affected parent in 4 families.

In‑vitro assays (Western blot, calcium‑induced NO release, fluorometric nitrate assay, co‑immunoprecipitation) showed loss‑of‑function and dominant‑negative activity. NOS1 was found to be transiently expressed by GnRH neurons in the nose of both humans and mice, and Nos1 deficiency in mice resulted in dose-dependent defects in sexual maturation as well as in olfaction, hearing, and cognition. Inhaled NO treatment at minipuberty rescued both reproductive and behavioral phenotypes in Nos1-deficient mice.
Sources: Literature
Pituitary hormone deficiency v0.76 ESRP2 Chirag Patel Classified gene: ESRP2 as Red List (low evidence)
Pituitary hormone deficiency v0.76 ESRP2 Chirag Patel Gene: esrp2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.75 ESRP2 Chirag Patel Marked gene: ESRP2 as ready
Pituitary hormone deficiency v0.75 ESRP2 Chirag Patel Gene: esrp2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.75 ESRP2 Chirag Patel Phenotypes for gene: ESRP2 were changed from cleft lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152 to Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152
Pituitary hormone deficiency v0.74 Chirag Patel Copied gene ESRP2 from panel Clefting disorders
Pituitary hormone deficiency v0.74 ESRP2 Chirag Patel gene: ESRP2 was added
gene: ESRP2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,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 lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152
Pituitary hormone deficiency v0.72 FOXA2 Chirag Patel Phenotypes for gene: FOXA2 were changed from No OMIM number; Congenital hyperinsulinism; Congenital hypopituitarism to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177
Publications for gene FOXA2 were changed from 28973288, 29329447, 30414530, 33729509, 31294511, 33999151 to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151
Pituitary hormone deficiency v0.71 FGFR1 Chirag Patel Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome (123150); Pfeiffer syndrome (101600); Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465) to Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Publications for gene FGFR1 were changed from 12627230, 18034870, 16606836, 15001591 to 12627230, 18034870, 16606836, 15001591
Pituitary hormone deficiency v0.70 FGFR1 Chirag Patel reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627230, 18034870, 16606836, 15001591; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.70 Chirag Patel Added reviews for gene FGF8 from panel Differences of Sex Development
Pituitary hormone deficiency v0.69 FOXA2 Chirag Patel reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28973288, 29329447, 30414530, 33729509, 31294511, 33999151; Phenotypes: Hypopituitarism, MONDO:0005152, Hyperinsulinism, MONDO:0002177; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.69 Chirag Patel Added reviews for gene GLI3 from panel Growth failure
Pituitary hormone deficiency v0.68 Chirag Patel Added reviews for gene GLI2 from panel Mendeliome
Pituitary hormone deficiency v0.67 Chirag Patel Added reviews for gene GHRHR from panel Mendeliome
Pituitary hormone deficiency v0.66 Chirag Patel Added reviews for gene GHR from panel Mendeliome
Pituitary hormone deficiency v0.65 Chirag Patel Added reviews for gene GH1 from panel Mendeliome
Pituitary hormone deficiency v0.64 Chirag Patel Added reviews for gene GNAI2 from panel Mendeliome
Pituitary hormone deficiency v0.63 Chirag Patel Added reviews for gene GNRHR from panel Differences of Sex Development
Pituitary hormone deficiency v0.62 HESX1 Chirag Patel reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14561704, 26781211, 11136712, 16940453; Phenotypes: Growth hormone deficiency with pituitary anomalies, MIM#182230, Pituitary hormone deficiency, combined, 5, MIM#182230, Septooptic dysplasia, MIM#182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.62 LHX3 Chirag Patel reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835633, 16394081, 17327381, 18407919; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.62 LHX4 Chirag Patel reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17527005, 18073311; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.62 Chirag Patel Added reviews for gene OTX2 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.61 PITX2 Chirag Patel commented on gene: PITX2
Pituitary hormone deficiency v0.61 Chirag Patel Added reviews for gene PITX2 from panel Mendeliome
Pituitary hormone deficiency v0.60 Chirag Patel Added reviews for gene PNPLA6 from panel Mendeliome
Pituitary hormone deficiency v0.59 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Pituitary hormone deficiency v0.58 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Pituitary hormone deficiency v0.58 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.58 PROKR2 Chirag Patel Mode of inheritance for gene PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.57 PROKR2 Chirag Patel commented on gene: PROKR2: While OMIM refers to this as AD disease, hom and c.het patients are regularly reported
Het. patients have been reported as asymptomatic carriers (OMIM)

Loss of function - transfected HEK293 cells showed a reduction in signalling and maximal responses (PMID:18826963).

Dominant negative - coexpression of a mutant missense with wildtype protein resulted in reduced signalling compared to wildtype alone (PMID:29161432).
Pituitary hormone deficiency v0.57 PROKR2 Chirag Patel reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22319038, 25678757, 25759380, 18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia (244200); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.57 PROKR2 Chirag Patel Publications for gene PROKR2 were changed from 22319038; 25678757; 25759380; 18826963; 29161432 to 22319038; 25678757; 25759380; 18826963; 29161432
Pituitary hormone deficiency v0.56 PROP1 Chirag Patel Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined, 2 (262600) to Pituitary hormone deficiency, combined, 2 MIM# 262600
Publications for gene PROP1 were changed from 20301521, 31090814 to 20301521, 31090814
Pituitary hormone deficiency v0.55 PROP1 Chirag Patel reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301521, 31090814; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.55 SOX2 Chirag Patel Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3 (206900) to Microphthalmia, syndromic 3, MIM# 206900
Publications for gene SOX2 were changed from 20301477, 16932809, 24211324, 21326281 to 20301477, 16932809, 24211324, 21326281
Pituitary hormone deficiency v0.54 SOX2 Chirag Patel reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301477, 16932809, 24211324, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.54 TBX19 Chirag Patel Phenotypes for gene: TBX19 were changed from Adrenocorticotropic hormone deficiency (201400) to Adrenocorticotropic hormone deficiency, 201400
Publications for gene TBX19 were changed from 15613420, 31998673, 11290323, 15476446, 22170728 to 15613420, 31998673, 11290323, 15476446, 22170728
Pituitary hormone deficiency v0.53 TBX19 Chirag Patel reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 15613420, 31998673, 11290323, 15476446, 22170728; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.53 SOX3 Chirag Patel reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24346842, 15800844, 21289259; Phenotypes: Panhypopituitarism, X-linked (312000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v0.53 SOX3 Chirag Patel Classified gene: SOX3 as Green List (high evidence)
Pituitary hormone deficiency v0.53 SOX3 Chirag Patel Gene: sox3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.51 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Green List (high evidence)
Pituitary hormone deficiency v0.51 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.50 BRAF Chirag Patel Classified gene: BRAF as Green List (high evidence)
Pituitary hormone deficiency v0.50 BRAF Chirag Patel Gene: braf has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.49 BRAF Chirag Patel gene: BRAF was added
gene: BRAF was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 33795686
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MONDO:0015280
Review for gene: BRAF was set to GREEN
Added comment: 5 unrelated patients with Cardio-Facio-Cutaneous (CFC) syndrome and 4 different missense variants in BRAF. They all had features of Septo-Optic Dysplasia with hypopituitarism. Functional studies using HEK293T cells showed that the BRAF genetic variants are pathogenic and result in activation of the ERK/MAPK pathway. Mice expressing one of the variants found BRAF p.Q257R showed abnormalities in terminal differentiation of hormone-producing cells causing hypopituitarism.
Sources: Genomics England PanelApp
Pituitary hormone deficiency v0.48 SHH Chirag Patel reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: None; Publications: 22897141; Phenotypes: Hypopituitarism, MONDO:0005152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.47 SHH Chirag Patel Phenotypes for gene: SHH were changed from Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945) to Hypopituitarism, MONDO:0005152; Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Pituitary hormone deficiency v0.46 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.46 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.45 KCNQ1 Chirag Patel Phenotypes for gene: KCNQ1 were changed from Pituitary hormone deficiency; Long QT syndrome 1 (192500) to Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500)
Pituitary hormone deficiency v0.44 KCNQ1 Chirag Patel Deleted their comment
Pituitary hormone deficiency v0.44 KCNQ1 Chirag Patel edited their review of gene: KCNQ1: Added comment: 2 missense variants in KCNQ1 [p.(Arg116Leu) or the p.(Pro369Leu)] identified in 3 unrelated families with multiple affected individuals with childhood onset of growth hormone deficiency (some with multiple pituitary hormone deficiencies). Gingival fibromatosis was only present if variant was maternally inherited. Variants segregated with disease and were absent in population databases.

The electrophysiological properties of the mutated channels were examined in whole-cell patch-clamp analyses in HEK 293 cells, in which both mutated channels (p.Arg116Leu and p.Pro369Leu) gave higher current levels than the wild-type (WT) Kv7.1 channels, and were associated with reduced pituitary hormone secretion from AtT-20 cells. KCNQ1 is expressed in mouse in postnatal pituitary somatotrope/gonadotrope cells and hypothalamic GHRH neurons. KCNQ1 is expressed in the human pituitary and hypothalamus.; Changed rating: AMBER; Changed publications: 29097701; Changed phenotypes: Hypopituitarism, MONDO:0005152; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Pituitary hormone deficiency v0.44 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Pituitary hormone deficiency v0.44 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.44 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Red List (low evidence)
Pituitary hormone deficiency v0.44 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.43 KCNQ1 Chirag Patel reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.43 BMP4 Chirag Patel Classified gene: BMP4 as Green List (high evidence)
Pituitary hormone deficiency v0.43 BMP4 Chirag Patel Gene: bmp4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.42 BMP4 Chirag Patel Phenotypes for gene: BMP4 were changed from Microphthalmia, syndromic 6 (607932) to Microphthalmia, syndromic 6, MIM#607932
Publications for gene BMP4 were changed from 31120642, 24289245, 18252212, 35633847 to 31120642, 24289245, 18252212, 35633847
Pituitary hormone deficiency v0.41 BMP4 Chirag Patel reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31120642, 24289245, 18252212, 35633847; Phenotypes: Microphthalmia, syndromic 6, MIM#607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.41 TGIF1 Chirag Patel Classified gene: TGIF1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.41 TGIF1 Chirag Patel Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.40 TGIF1 Chirag Patel Phenotypes for gene: TGIF1 were changed from Holoprosencephaly 4 (142946) to Holoprosencephaly 4, MONDO:0007734
Publications for gene TGIF1 were changed from 23476075, 34440302 to 23476075, 34440302
Pituitary hormone deficiency v0.39 TGIF1 Chirag Patel reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23476075, 34440302; Phenotypes: Holoprosencephaly 4, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.39 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Pituitary hormone deficiency v0.39 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.39 GNAI2 Zornitza Stark Classified gene: GNAI2 as Green List (high evidence)
Pituitary hormone deficiency v0.39 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.38 GNAI2 Zornitza Stark gene: GNAI2 was added
gene: GNAI2 was added to Pituitary hormone deficiency. Sources: 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
Review for gene: GNAI2 was set to GREEN
Added comment: PMID: 40926810 | 20 individuals from 18 families with a multisystem syndrome termed MAGIS (“Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects”) caused by heterozygous germline activating mutations. Considerable phenotypic heterogeneity with inter- and intra-familial variability. Majority of variants occur at recurrent residues Thr182 (Thr182Ala/Ile/Pro in six families) and Arg179 (Arg179His/Cys in seven patients from five families). The patients’ mutations were clustered in the P-loop and switch regions of the Ras-like domain of Gα, which is critical for guanine-nucleotide binding and GTPase activity. See PMID: 39298586 supplementary data for patient details of the above cohort. Other common features in the cohort also include intellectual disability (9/17), neurodevelopmental delay (13/19), motor delay (13/19), deafness (11/15), cryptochordism (7/14).
Sources: Literature
Pituitary hormone deficiency v0.37 TCF7L1 Zornitza Stark Marked gene: TCF7L1 as ready
Pituitary hormone deficiency v0.37 TCF7L1 Zornitza Stark Gene: tcf7l1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.37 TCF7L1 Zornitza Stark Phenotypes for gene: TCF7L1 were changed from No OMIM number; pituitary hormone deficiency to Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related
Pituitary hormone deficiency v0.36 TCF7L1 Zornitza Stark Classified gene: TCF7L1 as Red List (low evidence)
Pituitary hormone deficiency v0.36 TCF7L1 Zornitza Stark Gene: tcf7l1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.35 TCF7L1 Zornitza Stark reviewed gene: TCF7L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.35 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Pituitary hormone deficiency v0.34 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v0.34 ZRSR2 Zornitza Stark Marked gene: ZRSR2 as ready
Pituitary hormone deficiency v0.34 ZRSR2 Zornitza Stark Gene: zrsr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.34 ZRSR2 Zornitza Stark Classified gene: ZRSR2 as Green List (high evidence)
Pituitary hormone deficiency v0.34 ZRSR2 Zornitza Stark Gene: zrsr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.33 ZRSR2 Michelle Torres gene: ZRSR2 was added
gene: ZRSR2 was added to Pituitary hormone deficiency. Sources: 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 Orofacialdigital syndrome MONDO:0015375, ZRSR2-related
Review for gene: ZRSR2 was set to GREEN
gene: ZRSR2 was marked as current diagnostic
Added comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.

Six unrelated families with two truncating variants and functional studies:
- p.(Gly404GlufsTer23): detected in one family with 2x affected males
- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited
Sources: Literature
Pituitary hormone deficiency v0.33 ROBO1 Zornitza Stark Phenotypes for gene: ROBO1 were changed from pituitary stalk interruption syndrome; pituitary anomalies; pituitary hormone deficiency to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Pituitary hormone deficiency v0.32 ROBO1 Zornitza Stark reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.32 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Pituitary hormone deficiency v0.32 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.32 SOX3 Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.32 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.31 SOX3 Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
Pituitary hormone deficiency v0.31 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Panhypopituitarism, X-linked, MIM# 312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v0.31 Zornitza Stark HPO terms changed from to Hypopituitarism, HP:0040075
List of related panels changed from to Hypopituitarism; HP:0040075
Pituitary hormone deficiency v0.30 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pituitary hormone deficiency v0.29 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Pituitary hormone deficiency v0.29 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Pituitary hormone deficiency v0.29 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Pituitary hormone deficiency v0.29 SIX3 Zornitza Stark Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.29 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762 to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762
Pituitary hormone deficiency v0.28 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170) to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762
Pituitary hormone deficiency v0.27 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Pituitary hormone deficiency v0.26 SIX3 Paul De Fazio reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: 35951005; Phenotypes: Non-acquired combined pituitary hormone deficiency MONDO:0018762; Mode of inheritance: Other; Current diagnostic: yes
Pituitary hormone deficiency v0.26 RBM28 Zornitza Stark Marked gene: RBM28 as ready
Pituitary hormone deficiency v0.26 RBM28 Zornitza Stark Gene: rbm28 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.26 RBM28 Zornitza Stark Phenotypes for gene: RBM28 were changed from ANE syndrome; ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079) to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Pituitary hormone deficiency v0.25 RBM28 Zornitza Stark Publications for gene: RBM28 were set to 20231366
Pituitary hormone deficiency v0.24 RBM28 Zornitza Stark Classified gene: RBM28 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.24 RBM28 Zornitza Stark Gene: rbm28 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.23 RBM28 Zornitza Stark reviewed gene: RBM28: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439547, 33941690; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.23 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Pituitary hormone deficiency v0.22 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 29866761; 32462814
Pituitary hormone deficiency v0.21 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Pituitary hormone deficiency v0.21 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.20 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Pituitary hormone deficiency v0.20 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Pituitary hormone deficiency v0.20 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.20 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Pituitary hormone deficiency v0.19 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834967; Phenotypes: Hypogonadotropic hypogonadism 5 with or without anosmia, MIM# 612370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.19 ROBO1 Zornitza Stark Marked gene: ROBO1 as ready
Pituitary hormone deficiency v0.19 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.19 ROBO1 Zornitza Stark Classified gene: ROBO1 as Green List (high evidence)
Pituitary hormone deficiency v0.19 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.18 ROBO1 Natasha Brown gene: ROBO1 was added
gene: ROBO1 was added to Pituitary hormone deficiency. Sources: 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 stalk interruption syndrome; pituitary anomalies; pituitary hormone deficiency
Review for gene: ROBO1 was set to GREEN
Added comment: PMID: 30692597 novel hmz splice, single case; severe phenotype combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus, dysmorphism; parents reported to be unaffected.
PMID: 30530901 Two affected from one family with 343.7 kb deletion of 3p12.3 encompassing ROBO1
PMID: 33270637 Larger cohort study found four individiuals (2x LOF; 2x missense) all het variants however those with missense variants also had other variants in different genes, evidence for pathogenicity of missense variants less clear.
PMID: 28402530 In five unexplained cases of pit stalk interruption, found: p.Ala977Glnfs*40 in two affected sibs; p.Tyr1114Ter in a sporadic case, and p.Cys240Ser, affected child and paternal aunt. All heterozygous.
Sources: Literature
Pituitary hormone deficiency v0.17 CHD7 Belinda Chong edited their review of gene: CHD7: Changed publications: PMID: 29152903, PMID: 30733481
Pituitary hormone deficiency v0.17 CHD7 Belinda Chong reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152903, 30733481; Phenotypes: CHARGE syndrome MIM# 214800, Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.17 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Pituitary hormone deficiency v0.17 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.17 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1 (613038) to Pituitary hormone deficiency, combined, 1 MIM# 613038; pituitary hypoplasia; severe growth failure; combined GH, PRL and TSH deficiency; distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)
Pituitary hormone deficiency v0.16 POU1F1 Zornitza Stark Publications for gene: POU1F1 were set to
Pituitary hormone deficiency v0.15 POU1F1 Zornitza Stark reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1302000, 1472057, 9392392, 15928241, 7833912, 12773133; Phenotypes: Pituitary hormone deficiency, combined, 1 MIM# 613038, pituitary hypoplasia, severe growth failure, combined GH, PRL and TSH deficiency, distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.15 GHSR Zornitza Stark Marked gene: GHSR as ready
Pituitary hormone deficiency v0.15 GHSR Zornitza Stark Gene: ghsr has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.15 GHSR Zornitza Stark Publications for gene: GHSR were set to 19789204; 25557026
Pituitary hormone deficiency v0.14 GHSR Zornitza Stark Classified gene: GHSR as Amber List (moderate evidence)
Pituitary hormone deficiency v0.14 GHSR Zornitza Stark Gene: ghsr has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.13 GHSR Zornitza Stark reviewed gene: GHSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557026, 19789204, 16511605; Phenotypes: Growth hormone deficiency, isolated partial, MIM# 615925; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.13 BTK Zornitza Stark Marked gene: BTK as ready
Pituitary hormone deficiency v0.13 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 9554752; Phenotypes: Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Marked gene: HID1 as ready
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.12 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Pituitary hormone deficiency. Sources: 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 Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy.
Sources: Literature
Pituitary hormone deficiency v0.11 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Pituitary hormone deficiency v0.11 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.11 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Pituitary hormone deficiency v0.10 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767
Pituitary hormone deficiency v0.9 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.8 TBL1X Zornitza Stark reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.8 TBL1X Elena Savva gene: TBL1X was added
gene: TBL1X was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF

All mutations were located in the highly conserved WD40-repeat domains.
Sources: Literature
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Marked gene: CDON as ready
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Publications for gene: CDON were set to 21802063; 26529631
Pituitary hormone deficiency v0.7 CDON Zornitza Stark reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.7 CDON Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients
Pituitary hormone deficiency v0.7 CDON Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: has anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients
Pituitary hormone deficiency v0.7 CDON Elena Savva reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21802063, 29749693, 32729136, 33270637, 26529631, 27974186; Phenotypes: Holoprosencephaly 11 MIM#614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.7 Zornitza Stark Panel types changed to Rare Disease
Pituitary hormone deficiency v0.6 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
Pituitary hormone deficiency v0.6 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.6 RNPC3 Zornitza Stark Classified gene: RNPC3 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.6 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.5 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814
Phenotypes for gene: RNPC3 were set to Growth hormone deficiency
Review for gene: RNPC3 was set to AMBER
Added comment: Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present.
Sources: Literature
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.4 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.3 TBC1D32 Zornitza Stark gene: TBC1D32 was added
gene: TBC1D32 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Review for gene: TBC1D32 was set to AMBER
Added comment: Two families reported with syndromic hypopituitarism and bi-allelic variants in this gene.
Sources: Literature
Pituitary hormone deficiency v0.1 Seb Lunke Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pituitary hormone deficiency v0.0 ZSWIM6 Seb Lunke gene: ZSWIM6 was added
gene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865); Acromelic frontonasal dysostosis (603671)
Pituitary hormone deficiency v0.0 ZIC2 Seb Lunke gene: ZIC2 was added
gene: ZIC2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZIC2 were set to 24706429
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5 (609637)
Pituitary hormone deficiency v0.0 WDR11 Seb Lunke gene: WDR11 was added
gene: WDR11 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
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)
Pituitary hormone deficiency v0.0 TGIF1 Seb Lunke gene: TGIF1 was added
gene: TGIF1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGIF1 were set to 23476075
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4 (142946)
Pituitary hormone deficiency v0.0 SLC20A1 Seb Lunke gene: SLC20A1 was added
gene: SLC20A1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SLC20A1 was set to Unknown
Phenotypes for gene: SLC20A1 were set to No OMIM number
Pituitary hormone deficiency v0.0 SLC15A4 Seb Lunke gene: SLC15A4 was added
gene: SLC15A4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SLC15A4 was set to Unknown
Publications for gene: SLC15A4 were set to 29261175
Phenotypes for gene: SLC15A4 were set to No OMIM number
Pituitary hormone deficiency v0.0 SIX3 Seb Lunke gene: SIX3 was added
gene: SIX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170)
Pituitary hormone deficiency v0.0 RBM28 Seb Lunke gene: RBM28 was added
gene: RBM28 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 20231366
Phenotypes for gene: RBM28 were set to ANE syndrome; ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Pituitary hormone deficiency v0.0 PTCH1 Seb Lunke gene: PTCH1 was added
gene: PTCH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTCH1 were set to 11941477
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828)
Pituitary hormone deficiency v0.0 PSTPIP1 Seb Lunke gene: PSTPIP1 was added
gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PSTPIP1 were set to Holoprosencephaly; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)
Pituitary hormone deficiency v0.0 POLR3A Seb Lunke gene: POLR3A was added
gene: POLR3A was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
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)
Pituitary hormone deficiency v0.0 PAX6 Seb Lunke gene: PAX6 was added
gene: PAX6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX6 were set to 25342853
Phenotypes for gene: PAX6 were set to Aniridia (106210)
Pituitary hormone deficiency v0.0 NODAL Seb Lunke gene: NODAL was added
gene: NODAL was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to Holoprosencephaly; Heterotaxy, visceral, 5 (270100)
Pituitary hormone deficiency v0.0 HNRNPU Seb Lunke gene: HNRNPU was added
gene: HNRNPU was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54 (617391)
Pituitary hormone deficiency v0.0 HHIP Seb Lunke gene: HHIP was added
gene: HHIP was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HHIP was set to Unknown
Phenotypes for gene: HHIP were set to No OMIM number
Pituitary hormone deficiency v0.0 GPR161 Seb Lunke gene: GPR161 was added
gene: GPR161 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GPR161 was set to Unknown
Publications for gene: GPR161 were set to 25322266
Phenotypes for gene: GPR161 were set to No OMIM number; pituitary stalk interruption syndrome
Pituitary hormone deficiency v0.0 GHRH Seb Lunke gene: GHRH was added
gene: GHRH was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHRH was set to Unknown
Publications for gene: GHRH were set to 15155578
Phenotypes for gene: GHRH were set to No OMIM number; ?Isolated growth hormone deficiency due to defect in GHRF
Pituitary hormone deficiency v0.0 FOXH1 Seb Lunke gene: FOXH1 was added
gene: FOXH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FOXH1 was set to Unknown
Phenotypes for gene: FOXH1 were set to Holoprosencephaly; No OMIM number
Pituitary hormone deficiency v0.0 BMP4 Seb Lunke gene: BMP4 was added
gene: BMP4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 24289245
Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)
Pituitary hormone deficiency v0.0 BMP2 Seb Lunke gene: BMP2 was added
gene: BMP2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP2 were set to 24289245
Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
Pituitary hormone deficiency v0.0 ARNT2 Seb Lunke gene: ARNT2 was added
gene: ARNT2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475
Phenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926)
Pituitary hormone deficiency v0.0 TCF7L1 Seb Lunke gene: TCF7L1 was added
gene: TCF7L1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TCF7L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF7L1 were set to 26764381
Phenotypes for gene: TCF7L1 were set to No OMIM number; pituitary hormone deficiency
Pituitary hormone deficiency v0.0 SHH Seb Lunke gene: SHH was added
gene: SHH was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHH were set to 22897141
Phenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Pituitary hormone deficiency v0.0 KCNQ1 Seb Lunke gene: KCNQ1 was added
gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Pituitary hormone deficiency; Long QT syndrome 1 (192500)
Pituitary hormone deficiency v0.0 CDON Seb Lunke gene: CDON was added
gene: CDON was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDON were set to 21802063; 26529631
Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)
Pituitary hormone deficiency v0.0 TBX19 Seb Lunke gene: TBX19 was added
gene: TBX19 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX19 were set to 22170728; 11290323; 15476446
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency (201400)
Pituitary hormone deficiency v0.0 SOX3 Seb Lunke gene: SOX3 was added
gene: SOX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 SOX2 Seb Lunke gene: SOX2 was added
gene: SOX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX2 were set to 29371155; 16932809; 30450772
Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)
Pituitary hormone deficiency v0.0 PROP1 Seb Lunke gene: PROP1 was added
gene: PROP1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 (262600)
Pituitary hormone deficiency v0.0 PROKR2 Seb Lunke gene: PROKR2 was added
gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PROKR2 were set to 22319038; 25678757; 25759380
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Pituitary hormone deficiency v0.0 POU1F1 Seb Lunke gene: POU1F1 was added
gene: POU1F1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1 (613038)
Pituitary hormone deficiency v0.0 PNPLA6 Seb Lunke gene: PNPLA6 was added
gene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 PITX2 Seb Lunke gene: PITX2 was added
gene: PITX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 (137600); Axenfeld-Rieger syndrome, type 1 (180500)
Pituitary hormone deficiency v0.0 OTX2 Seb Lunke gene: OTX2 was added
gene: OTX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 LHX4 Seb Lunke gene: LHX4 was added
gene: LHX4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 LHX3 Seb Lunke gene: LHX3 was added
gene: LHX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 IGSF1 Seb Lunke gene: IGSF1 was added
gene: IGSF1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767
Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888)
Pituitary hormone deficiency v0.0 HESX1 Seb Lunke gene: HESX1 was added
gene: HESX1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 GNRHR Seb Lunke gene: GNRHR was added
gene: GNRHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 GLI3 Seb Lunke gene: GLI3 was added
gene: GLI3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 GLI2 Seb Lunke gene: GLI2 was added
gene: GLI2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 GHSR Seb Lunke gene: GHSR was added
gene: GHSR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GHSR were set to 19789204; 25557026
Phenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925)
Pituitary hormone deficiency v0.0 GHRHR Seb Lunke gene: GHRHR was added
gene: GHRHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157)
Pituitary hormone deficiency v0.0 GHR Seb Lunke gene: GHR was added
gene: GHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Growth hormone insensitivity, partial (604271); Increased responsiveness to growth hormone (604271); Laron dwarfism (262500)
Pituitary hormone deficiency v0.0 GH1 Seb Lunke gene: GH1 was added
gene: GH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781); Growth hormone deficiency, isolated, type II (173100)
Pituitary hormone deficiency v0.0 FOXA2 Seb Lunke gene: FOXA2 was added
gene: FOXA2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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
Phenotypes for gene: FOXA2 were set to No OMIM number; Congenital hyperinsulinism; Congenital hypopituitarism
Pituitary hormone deficiency v0.0 FGFR1 Seb Lunke gene: FGFR1 was added
gene: FGFR1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR1 were set to 22319038; 25759380
Phenotypes for gene: FGFR1 were set to Jackson-Weiss syndrome (123150); Pfeiffer syndrome (101600); Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465)
Pituitary hormone deficiency v0.0 FGF8 Seb Lunke gene: FGF8 was added
gene: FGF8 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
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)
Pituitary hormone deficiency v0.0 CHD7 Seb Lunke gene: CHD7 was added
gene: CHD7 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia (612370); CHARGE syndrome (214800)
Pituitary hormone deficiency v0.0 BTK Seb Lunke gene: BTK was added
gene: BTK was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BTK were set to 9554752; 8013627; 7849697
Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)
Pituitary hormone deficiency v0.0 Seb Lunke Added panel Pituitary hormone deficiency