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04 Jan 2024	Pituitary hormone deficiency v0.34	ZRSR2	Zornitza Stark Marked gene: ZRSR2 as ready
04 Jan 2024	Pituitary hormone deficiency v0.34	ZRSR2	Zornitza Stark Gene: zrsr2 has been classified as Green List (High Evidence).
04 Jan 2024	Pituitary hormone deficiency v0.34	ZRSR2	Zornitza Stark Classified gene: ZRSR2 as Green List (high evidence)
04 Jan 2024	Pituitary hormone deficiency v0.34	ZRSR2	Zornitza Stark Gene: zrsr2 has been classified as Green List (High Evidence).
04 Jan 2024	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
09 Apr 2023	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
09 Apr 2023	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
24 Mar 2023	Pituitary hormone deficiency v0.32	SOX3	Zornitza Stark Marked gene: SOX3 as ready
24 Mar 2023	Pituitary hormone deficiency v0.32	SOX3	Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
24 Mar 2023	Pituitary hormone deficiency v0.32	SOX3	Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
24 Mar 2023	Pituitary hormone deficiency v0.32	SOX3	Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
24 Mar 2023	Pituitary hormone deficiency v0.31	SOX3	Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
24 Mar 2023	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
04 Jan 2023	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
19 Oct 2022	Pituitary hormone deficiency v0.30		Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
26 Sep 2022	Pituitary hormone deficiency v0.29	LHX4	Zornitza Stark Tag treatable tag was added to gene: LHX4.
26 Sep 2022	Pituitary hormone deficiency v0.29	LHX3	Zornitza Stark Tag treatable tag was added to gene: LHX3.
01 Sep 2022	Pituitary hormone deficiency v0.29	SIX3	Zornitza Stark Marked gene: SIX3 as ready
01 Sep 2022	Pituitary hormone deficiency v0.29	SIX3	Zornitza Stark Gene: six3 has been classified as Red List (Low Evidence).
01 Sep 2022	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
01 Sep 2022	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
01 Sep 2022	Pituitary hormone deficiency v0.27	SIX3	Zornitza Stark Publications for gene: SIX3 were set to
01 Sep 2022	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
11 May 2022	Pituitary hormone deficiency v0.26	RBM28	Zornitza Stark Marked gene: RBM28 as ready
11 May 2022	Pituitary hormone deficiency v0.26	RBM28	Zornitza Stark Gene: rbm28 has been classified as Amber List (Moderate Evidence).
11 May 2022	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)
11 May 2022	Pituitary hormone deficiency v0.25	RBM28	Zornitza Stark Publications for gene: RBM28 were set to 20231366
11 May 2022	Pituitary hormone deficiency v0.24	RBM28	Zornitza Stark Classified gene: RBM28 as Amber List (moderate evidence)
11 May 2022	Pituitary hormone deficiency v0.24	RBM28	Zornitza Stark Gene: rbm28 has been classified as Amber List (Moderate Evidence).
11 May 2022	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
05 Nov 2021	Pituitary hormone deficiency v0.23	RNPC3	Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
05 Nov 2021	Pituitary hormone deficiency v0.22	RNPC3	Zornitza Stark Publications for gene: RNPC3 were set to 29866761; 32462814
05 Nov 2021	Pituitary hormone deficiency v0.21	RNPC3	Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
05 Nov 2021	Pituitary hormone deficiency v0.21	RNPC3	Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
05 Nov 2021	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
01 Oct 2021	Pituitary hormone deficiency v0.20	CHD7	Zornitza Stark Marked gene: CHD7 as ready
01 Oct 2021	Pituitary hormone deficiency v0.20	CHD7	Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
01 Oct 2021	Pituitary hormone deficiency v0.20	CHD7	Zornitza Stark Publications for gene: CHD7 were set to
01 Oct 2021	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
27 Sep 2021	Pituitary hormone deficiency v0.19	ROBO1	Zornitza Stark Marked gene: ROBO1 as ready
27 Sep 2021	Pituitary hormone deficiency v0.19	ROBO1	Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
27 Sep 2021	Pituitary hormone deficiency v0.19	ROBO1	Zornitza Stark Classified gene: ROBO1 as Green List (high evidence)
27 Sep 2021	Pituitary hormone deficiency v0.19	ROBO1	Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
26 Sep 2021	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
17 Sep 2021	Pituitary hormone deficiency v0.17	CHD7	Belinda Chong edited their review of gene: CHD7: Changed publications: PMID: 29152903, PMID: 30733481
17 Sep 2021	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
31 Aug 2021	Pituitary hormone deficiency v0.17	POU1F1	Zornitza Stark Marked gene: POU1F1 as ready
31 Aug 2021	Pituitary hormone deficiency v0.17	POU1F1	Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
31 Aug 2021	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)
31 Aug 2021	Pituitary hormone deficiency v0.16	POU1F1	Zornitza Stark Publications for gene: POU1F1 were set to
31 Aug 2021	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
24 Aug 2021	Pituitary hormone deficiency v0.15	GHSR	Zornitza Stark Marked gene: GHSR as ready
24 Aug 2021	Pituitary hormone deficiency v0.15	GHSR	Zornitza Stark Gene: ghsr has been classified as Amber List (Moderate Evidence).
24 Aug 2021	Pituitary hormone deficiency v0.15	GHSR	Zornitza Stark Publications for gene: GHSR were set to 19789204; 25557026
24 Aug 2021	Pituitary hormone deficiency v0.14	GHSR	Zornitza Stark Classified gene: GHSR as Amber List (moderate evidence)
24 Aug 2021	Pituitary hormone deficiency v0.14	GHSR	Zornitza Stark Gene: ghsr has been classified as Amber List (Moderate Evidence).
24 Aug 2021	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
14 Aug 2021	Pituitary hormone deficiency v0.13	BTK	Zornitza Stark Marked gene: BTK as ready
14 Aug 2021	Pituitary hormone deficiency v0.13	BTK	Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
14 Aug 2021	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
08 Jul 2021	Pituitary hormone deficiency v0.13	HID1	Zornitza Stark Marked gene: HID1 as ready
08 Jul 2021	Pituitary hormone deficiency v0.13	HID1	Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
08 Jul 2021	Pituitary hormone deficiency v0.13	HID1	Zornitza Stark Classified gene: HID1 as Green List (high evidence)
08 Jul 2021	Pituitary hormone deficiency v0.13	HID1	Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
08 Jul 2021	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
12 Feb 2021	Pituitary hormone deficiency v0.11	IGSF1	Zornitza Stark Marked gene: IGSF1 as ready
12 Feb 2021	Pituitary hormone deficiency v0.11	IGSF1	Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
12 Feb 2021	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
12 Feb 2021	Pituitary hormone deficiency v0.10	IGSF1	Zornitza Stark Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767
12 Feb 2021	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)
21 Dec 2020	Pituitary hormone deficiency v0.9	TBL1X	Zornitza Stark Marked gene: TBL1X as ready
21 Dec 2020	Pituitary hormone deficiency v0.9	TBL1X	Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
21 Dec 2020	Pituitary hormone deficiency v0.9	TBL1X	Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
21 Dec 2020	Pituitary hormone deficiency v0.9	TBL1X	Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
21 Dec 2020	Pituitary hormone deficiency v0.8	TBL1X	Zornitza Stark reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
21 Dec 2020	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
17 Dec 2020	Pituitary hormone deficiency v0.8	CDON	Zornitza Stark Marked gene: CDON as ready
17 Dec 2020	Pituitary hormone deficiency v0.8	CDON	Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
17 Dec 2020	Pituitary hormone deficiency v0.8	CDON	Zornitza Stark Publications for gene: CDON were set to 21802063; 26529631
17 Dec 2020	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
17 Dec 2020	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
17 Dec 2020	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
17 Dec 2020	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
19 Oct 2020	Pituitary hormone deficiency v0.7		Zornitza Stark Panel types changed to Rare Disease
05 Oct 2020	Pituitary hormone deficiency v0.6	RNPC3	Zornitza Stark Marked gene: RNPC3 as ready
05 Oct 2020	Pituitary hormone deficiency v0.6	RNPC3	Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
05 Oct 2020	Pituitary hormone deficiency v0.6	RNPC3	Zornitza Stark Classified gene: RNPC3 as Amber List (moderate evidence)
05 Oct 2020	Pituitary hormone deficiency v0.6	RNPC3	Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
05 Oct 2020	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
20 Jul 2020	Pituitary hormone deficiency v0.4	TBC1D32	Zornitza Stark Marked gene: TBC1D32 as ready
20 Jul 2020	Pituitary hormone deficiency v0.4	TBC1D32	Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
20 Jul 2020	Pituitary hormone deficiency v0.4	TBC1D32	Zornitza Stark Classified gene: TBC1D32 as Amber List (moderate evidence)
20 Jul 2020	Pituitary hormone deficiency v0.4	TBC1D32	Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
20 Jul 2020	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
13 Jul 2020	Pituitary hormone deficiency v0.1		Seb Lunke Panel types changed to Victorian Clinical Genetics Services; Rare Disease
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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
13 Jul 2020	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
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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
13 Jul 2020	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
13 Jul 2020	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
13 Jul 2020	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
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	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)
13 Jul 2020	Pituitary hormone deficiency v0.0		Seb Lunke Added panel Pituitary hormone deficiency