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Adrenal insufficiency v0.76 PCSK1 Chirag Patel changed review comment from: adrenal insufficiency seen in condition; to: Various endocrine disorders present as disease progresses, including GH deficiency (44%), mild central hypothyroidism (56%), central hypogonadism (44%), central hypocortisolism (57%), and postprandial hypoglycemia (52%).
Adrenal insufficiency v0.76 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; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adrenal insufficiency v0.76 KCNQ1 Chirag Patel Phenotypes for gene: KCNQ1 were changed from Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500) to Hypopituitarism, MONDO:0005152
Adrenal insufficiency v0.75 KCNQ1 Chirag Patel Publications for gene: KCNQ1 were set to 29097701
Adrenal insufficiency v0.74 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Green List (high evidence)
Adrenal insufficiency v0.74 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.73 Chirag Patel Added reviews for gene KCNQ1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.72 Chirag Patel Added reviews for gene KCNQ1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.71 TBCE Chirag Patel Marked gene: TBCE as ready
Adrenal insufficiency v0.71 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Adrenal insufficiency v0.71 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Adrenal insufficiency v0.71 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Adrenal insufficiency v0.70 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 39086450
Phenotypes for gene: TBCE were set to hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426
Review for gene: TBCE was set to GREEN
Added comment: PMID 33150438 describes a cohort of 63 patients with HRD syndrome, 62 of whom harbor the same homozygous c.155_166del12 deletion and one with homozygous c.207_208delTA. Adrenal glucocorticoid insufficiency was diagnosed in 22% of patients.
Sources: Literature
Adrenal insufficiency v0.69 C14orf80 Chirag Patel Marked gene: C14orf80 as ready
Adrenal insufficiency v0.69 C14orf80 Chirag Patel Gene: c14orf80 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.69 C14orf80 Chirag Patel Classified gene: C14orf80 as Red List (low evidence)
Adrenal insufficiency v0.69 C14orf80 Chirag Patel Gene: c14orf80 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.68 C14orf80 Chirag Patel gene: C14orf80 was added
gene: C14orf80 was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680; 38252227; 30842647
Phenotypes for gene: C14orf80 were set to Syndromic disease, MONDO:0002254
Review for gene: C14orf80 was set to RED
Added comment: Adrenal insufficiency only reported in 2 male siblings from 1 non-consanguineous family with biallelic loss‑of‑function TEDC1 variants (c.104-5C>G and p.Ala263LeufsTer29). They also had prenatal‑onset severe growth impairment, primary microcephaly, primary hypogonadism, congenital glaucoma, craniosynostosis, tracheal stenosis and developmental delay. Functional studies demonstrate loss of TEDC1 protein, disrupted TEDC2 binding, cell‑cycle defects in patient lymphoblastoid cells, and recapitulation of growth and cranial phenotypes in a tedc1‑/‑ zebrafish model.

Total of 5 individuals from 3 families reported with biallelic loss‑of‑function TEDC1 variants, presenting with developmental delay and microcephaly.
Sources: Literature
Adrenal insufficiency v0.67 CPOX Chirag Patel Marked gene: CPOX as ready
Adrenal insufficiency v0.67 CPOX Chirag Patel Gene: cpox has been classified as Green List (High Evidence).
Adrenal insufficiency v0.67 CPOX Chirag Patel Classified gene: CPOX as Green List (high evidence)
Adrenal insufficiency v0.67 CPOX Chirag Patel Gene: cpox has been classified as Green List (High Evidence).
Adrenal insufficiency v0.66 CPOX Chirag Patel gene: CPOX was added
gene: CPOX was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: CPOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPOX were set to 40857591; 40481674; 40296768
Phenotypes for gene: CPOX were set to harderoporphyria, MONDO:0030048
Review for gene: CPOX was set to GREEN
Added comment: ClinGen DEFINITIVE association (Jan 2023).

Childhood‑onset primary adrenal insufficiency reported in 5 individuals from 4 unrelated families with biallelic loss‑of‑function CPOX variants, with 3 individuals also having 46,XY DSD (PMID 40296768 and 40481674).
Sources: Literature
Adrenal insufficiency v0.65 GFER Chirag Patel Marked gene: GFER as ready
Adrenal insufficiency v0.65 GFER Chirag Patel Gene: gfer has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.65 GFER Chirag Patel gene: GFER was added
gene: GFER was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 26018198
Phenotypes for gene: GFER were set to Mitochondrial disease, MONDO:0044970
Review for gene: GFER was set to RED
Added comment: ClinGen DEFINITIVE association with disease (Sep'23).
Only 1 patient aged 19 years reported with infancy onset adrenal insufficiency.
Sources: Literature
Adrenal insufficiency v0.64 HSD17B4 Chirag Patel Marked gene: HSD17B4 as ready
Adrenal insufficiency v0.64 HSD17B4 Chirag Patel Gene: hsd17b4 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.64 HSD17B4 Chirag Patel Classified gene: HSD17B4 as Green List (high evidence)
Adrenal insufficiency v0.64 HSD17B4 Chirag Patel Gene: hsd17b4 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.63 HSD17B4 Chirag Patel gene: HSD17B4 was added
gene: HSD17B4 was added to Adrenal insufficiency. Sources: Literature,ClinGen
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 40416444; 32904102; 32528852
Phenotypes for gene: HSD17B4 were set to d-bifunctional protein deficiency, MONDO:0009855
Review for gene: HSD17B4 was set to GREEN
Added comment: ClinGen DEFINITIVE association with disease (Apr 2020).

Adrenal insufficiency reported in 5 individuals from 3 unrelated families with D‑bifunctional protein deficiency due to biallelic loss‑of‑function HSD17B4 variants.
Sources: Literature, ClinGen
Adrenal insufficiency v0.62 FOXA2 Chirag Patel Marked gene: FOXA2 as ready
Adrenal insufficiency v0.62 FOXA2 Chirag Patel Gene: foxa2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.62 PROP1 Chirag Patel Marked gene: PROP1 as ready
Adrenal insufficiency v0.62 PROP1 Chirag Patel Gene: prop1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.62 PROP1 Chirag Patel changed review comment from: Well-established gene-disease association; Over 30 unrelated families with homozygous/ compound heterozygous (small deletions, frameshift, insertions, missense, nonsense and splice) PROP1 variants. The majority of patients present with complete absence of puberty, dwarfism and low GH, PRL, TSH, LH, and FSH associated with severe hypoplasia of the pituitary gland. Most affected individuals are ascertained due to growth failure (early childhood) and failure to thrive starting in infancy.; to: Well-established gene-disease association; Over 30 unrelated families with homozygous/ compound heterozygous (small deletions, frameshift, insertions, missense, nonsense and splice) PROP1 variants. The majority of patients present with complete absence of puberty, dwarfism and low GH, PRL, TSH, LH, and FSH associated with severe hypoplasia of the pituitary gland. Most affected individuals are ascertained due to growth failure (early childhood) and failure to thrive starting in infancy.

10 individuals developed progressive ACTH deficiency around mid 20s.
Adrenal insufficiency v0.62 Chirag Patel Copied gene PROP1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.62 PROP1 Chirag Patel gene: PROP1 was added
gene: PROP1 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROP1 were set to 20301521, 31090814
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 MIM# 262600
Adrenal insufficiency v0.61 Chirag Patel Copied gene FOXA2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.61 FOXA2 Chirag Patel gene: FOXA2 was added
gene: FOXA2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXA2 were set to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151
Phenotypes for gene: FOXA2 were set to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177
Adrenal insufficiency v0.60 IARS2 Chirag Patel Marked gene: IARS2 as ready
Adrenal insufficiency v0.60 IARS2 Chirag Patel Gene: iars2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.60 IARS2 Chirag Patel Classified gene: IARS2 as Amber List (moderate evidence)
Adrenal insufficiency v0.60 IARS2 Chirag Patel Gene: iars2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.59 IARS2 Chirag Patel gene: IARS2 was added
gene: IARS2 was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 30419932
Phenotypes for gene: IARS2 were set to cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, MONDO:0014455
Review for gene: IARS2 was set to AMBER
Added comment: Established gene-disease association with cataract‑growth hormone deficiency‑sensory neuropathy‑sensorineural hearing loss‑skeletal dysplasia (CAGSSS) syndrome.

PMID 30419932 reports 2 unrelated individuals with the same homozygous missense variant in IARS2 gene (p.Pro909Ser) presenting with CAGSSS syndrome and central adrenal insufficiency.
Sources: Literature
Adrenal insufficiency v0.58 WNT4 Chirag Patel Classified gene: WNT4 as Amber List (moderate evidence)
Adrenal insufficiency v0.58 WNT4 Chirag Patel Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.57 WNT4 Chirag Patel edited their review of gene: WNT4: Added comment: A male fetus from consanguineous family with features of SERKAL syndrome (bilateral diaphragma genesis, pulmonary hypoplasia, bilateral renal hypoplasia with cystic dysplasia, RT adrenal agenesis, LT adrenal hypoplasia), and a homozygous missense variant in WNT4 gene (T291R) with parents as heterozygous carriers. Wnt4 -/- mice had ventricular septal defects, small/absent kidneys, sac hernias of diaphragm, and cleft soft palate.; Changed rating: AMBER; Changed publications: 40992710
Adrenal insufficiency v0.57 Chirag Patel Panel status changed from internal to public
Adrenal insufficiency v0.56 SIX3 Chirag Patel Marked gene: SIX3 as ready
Adrenal insufficiency v0.56 SIX3 Chirag Patel Gene: six3 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.56 GPR161 Chirag Patel Marked gene: GPR161 as ready
Adrenal insufficiency v0.56 GPR161 Chirag Patel Gene: gpr161 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.56 TGIF1 Chirag Patel Marked gene: TGIF1 as ready
Adrenal insufficiency v0.56 TGIF1 Chirag Patel Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 SHH Chirag Patel Marked gene: SHH as ready
Adrenal insufficiency v0.56 SHH Chirag Patel Gene: shh has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 RBM28 Chirag Patel Marked gene: RBM28 as ready
Adrenal insufficiency v0.56 RBM28 Chirag Patel Gene: rbm28 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 RAX Chirag Patel Marked gene: RAX as ready
Adrenal insufficiency v0.56 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 MCM4 Chirag Patel Marked gene: MCM4 as ready
Adrenal insufficiency v0.56 MCM4 Chirag Patel Gene: mcm4 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 KCNQ1 Chirag Patel Marked gene: KCNQ1 as ready
Adrenal insufficiency v0.56 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ESRP2 Chirag Patel Marked gene: ESRP2 as ready
Adrenal insufficiency v0.56 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 CDON Chirag Patel Marked gene: CDON as ready
Adrenal insufficiency v0.56 CDON Chirag Patel Gene: cdon has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ARNT2 Chirag Patel Marked gene: ARNT2 as ready
Adrenal insufficiency v0.56 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ZRSR2 Chirag Patel Marked gene: ZRSR2 as ready
Adrenal insufficiency v0.56 ZRSR2 Chirag Patel Gene: zrsr2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 TBX19 Chirag Patel Marked gene: TBX19 as ready
Adrenal insufficiency v0.56 TBX19 Chirag Patel Gene: tbx19 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 TBC1D32 Chirag Patel Marked gene: TBC1D32 as ready
Adrenal insufficiency v0.56 TBC1D32 Chirag Patel Gene: tbc1d32 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 STAR Chirag Patel Marked gene: STAR as ready
Adrenal insufficiency v0.56 STAR Chirag Patel Gene: star has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SOX3 Chirag Patel Marked gene: SOX3 as ready
Adrenal insufficiency v0.56 SOX3 Chirag Patel Gene: sox3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SGPL1 Chirag Patel Marked gene: SGPL1 as ready
Adrenal insufficiency v0.56 SGPL1 Chirag Patel Gene: sgpl1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SAMD9 Chirag Patel Marked gene: SAMD9 as ready
Adrenal insufficiency v0.56 SAMD9 Chirag Patel Gene: samd9 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 ROBO1 Chirag Patel Marked gene: ROBO1 as ready
Adrenal insufficiency v0.56 ROBO1 Chirag Patel Gene: robo1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 POR Chirag Patel Marked gene: POR as ready
Adrenal insufficiency v0.56 POR Chirag Patel Gene: por has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 POMC Chirag Patel Marked gene: POMC as ready
Adrenal insufficiency v0.56 POMC Chirag Patel Gene: pomc has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 PCSK1 Chirag Patel Marked gene: PCSK1 as ready
Adrenal insufficiency v0.56 PCSK1 Chirag Patel Gene: pcsk1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 OTX2 Chirag Patel Marked gene: OTX2 as ready
Adrenal insufficiency v0.56 OTX2 Chirag Patel Gene: otx2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NR5A1 Chirag Patel Marked gene: NR5A1 as ready
Adrenal insufficiency v0.56 NR5A1 Chirag Patel Gene: nr5a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NR0B1 Chirag Patel Marked gene: NR0B1 as ready
Adrenal insufficiency v0.56 NR0B1 Chirag Patel Gene: nr0b1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NNT Chirag Patel Marked gene: NNT as ready
Adrenal insufficiency v0.56 NNT Chirag Patel Gene: nnt has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 MRAP Chirag Patel Marked gene: MRAP as ready
Adrenal insufficiency v0.56 MRAP Chirag Patel Gene: mrap has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 MC2R Chirag Patel Marked gene: MC2R as ready
Adrenal insufficiency v0.56 MC2R Chirag Patel Gene: mc2r has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LIPA Chirag Patel Marked gene: LIPA as ready
Adrenal insufficiency v0.56 LIPA Chirag Patel Gene: lipa has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LHX4 Chirag Patel Marked gene: LHX4 as ready
Adrenal insufficiency v0.56 LHX4 Chirag Patel Gene: lhx4 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LHX3 Chirag Patel Marked gene: LHX3 as ready
Adrenal insufficiency v0.56 LHX3 Chirag Patel Gene: lhx3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HSD3B2 Chirag Patel Marked gene: HSD3B2 as ready
Adrenal insufficiency v0.56 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HID1 Chirag Patel Marked gene: HID1 as ready
Adrenal insufficiency v0.56 HID1 Chirag Patel Gene: hid1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HESX1 Chirag Patel Marked gene: HESX1 as ready
Adrenal insufficiency v0.56 HESX1 Chirag Patel Gene: hesx1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 GLI3 Chirag Patel Marked gene: GLI3 as ready
Adrenal insufficiency v0.56 GLI3 Chirag Patel Gene: gli3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 GLI2 Chirag Patel Marked gene: GLI2 as ready
Adrenal insufficiency v0.56 GLI2 Chirag Patel Gene: gli2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP21A2 Chirag Patel Marked gene: CYP21A2 as ready
Adrenal insufficiency v0.56 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP17A1 Chirag Patel Marked gene: CYP17A1 as ready
Adrenal insufficiency v0.56 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11B2 Chirag Patel Marked gene: CYP11B2 as ready
Adrenal insufficiency v0.56 CYP11B2 Chirag Patel Gene: cyp11b2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11B1 Chirag Patel Marked gene: CYP11B1 as ready
Adrenal insufficiency v0.56 CYP11B1 Chirag Patel Gene: cyp11b1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11A1 Chirag Patel Marked gene: CYP11A1 as ready
Adrenal insufficiency v0.56 CYP11A1 Chirag Patel Gene: cyp11a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CDKN1C Chirag Patel Marked gene: CDKN1C as ready
Adrenal insufficiency v0.56 CDKN1C Chirag Patel Gene: cdkn1c has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 AIRE Chirag Patel Marked gene: AIRE as ready
Adrenal insufficiency v0.56 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 ABCD1 Chirag Patel Marked gene: ABCD1 as ready
Adrenal insufficiency v0.56 ABCD1 Chirag Patel Gene: abcd1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 AAAS Chirag Patel Marked gene: AAAS as ready
Adrenal insufficiency v0.56 AAAS Chirag Patel Gene: aaas has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NFKB2 Chirag Patel Marked gene: NFKB2 as ready
Adrenal insufficiency v0.56 NFKB2 Chirag Patel Gene: nfkb2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 Chirag Patel Copied gene NFKB2 from panel Mendeliome
Adrenal insufficiency v0.56 NFKB2 Chirag Patel gene: NFKB2 was added
gene: NFKB2 was added to Adrenal insufficiency. 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
Adrenal insufficiency v0.55 POLE Chirag Patel Marked gene: POLE as ready
Adrenal insufficiency v0.55 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Adrenal insufficiency v0.55 POLE Chirag Patel Classified gene: POLE as Green List (high evidence)
Adrenal insufficiency v0.55 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Adrenal insufficiency v0.54 POLE Chirag Patel gene: POLE was added
gene: POLE was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519
Phenotypes for gene: POLE were set to IMAGE-I syndrome, MONDO:0032684
Review for gene: POLE was set to GREEN
Added comment: IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.
15 individuals from 12 families reported with a recurrent intronic variant (c.1686+32C-G, intron 15) found in combination with multiple other variants.
Sources: Literature
Adrenal insufficiency v0.53 LIPA Chirag Patel commented on gene: LIPA
Adrenal insufficiency v0.53 Chirag Patel Copied gene LIPA from panel Mendeliome
Adrenal insufficiency v0.53 LIPA Chirag Patel gene: LIPA was added
gene: LIPA was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: LIPA.
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 11487567
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204
Adrenal insufficiency v0.52 PEX1 Chirag Patel Marked gene: PEX1 as ready
Adrenal insufficiency v0.52 PEX1 Chirag Patel Gene: pex1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.52 PEX1 Chirag Patel Classified gene: PEX1 as Green List (high evidence)
Adrenal insufficiency v0.52 PEX1 Chirag Patel Gene: pex1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.51 PEX1 Chirag Patel gene: PEX1 was added
gene: PEX1 was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100
Review for gene: PEX1 was set to GREEN
Added comment: Well established gene-disease association. Small adrenals is a feature of the condition.
Sources: Literature
Adrenal insufficiency v0.50 Chirag Patel Added reviews for gene GLI3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.49 Chirag Patel Copied gene NR5A1 from panel Differences of Sex Development
Adrenal insufficiency v0.49 NR5A1 Chirag Patel gene: NR5A1 was added
gene: NR5A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NR5A1 were set to 31513305; 38650427; 20453312
Phenotypes for gene: NR5A1 were set to Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)
Adrenal insufficiency v0.48 Chirag Patel Copied gene AIRE from panel Disorders of immune dysregulation
Adrenal insufficiency v0.48 AIRE Chirag Patel gene: AIRE was added
gene: AIRE was added to Adrenal insufficiency. Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Adrenal insufficiency v0.47 Chirag Patel Copied gene SGPL1 from panel Mendeliome
Adrenal insufficiency v0.47 SGPL1 Chirag Patel gene: SGPL1 was added
gene: SGPL1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 33074640
Phenotypes for gene: SGPL1 were set to RENI syndrome (MIM#617575)
Adrenal insufficiency v0.46 Chirag Patel Copied gene ABCD1 from panel Mendeliome
Adrenal insufficiency v0.46 ABCD1 Chirag Patel gene: ABCD1 was added
gene: ABCD1 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy MIM#300100
Adrenal insufficiency v0.45 Chirag Patel Copied gene MCM4 from panel Mendeliome
Adrenal insufficiency v0.45 MCM4 Chirag Patel gene: MCM4 was added
gene: MCM4 was added to Adrenal insufficiency. Sources: Expert Review Amber,Victorian Clinical Genetics Services
founder tags were added to gene: MCM4.
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM4 were set to 22354167; 22354170; 22499342
Phenotypes for gene: MCM4 were set to Immunodeficiency 54 MIM# 609981; Decreased NK cell number and function; Viral infections (EBV, HSV, VZV); Short stature; B cell lymphoma; Adrenal failure; Failure to thrive; Microcephaly; Increased chromosomal breakage; Hyperpigmentation; Lymphadenopathy
Adrenal insufficiency v0.44 Chirag Patel Copied gene AAAS from panel Prepair 1000+
Adrenal insufficiency v0.44 AAAS Chirag Patel gene: AAAS was added
gene: AAAS was added to Adrenal insufficiency. Sources: Expert Review Green,Mackenzie's Mission
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 29255950
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Adrenal insufficiency v0.43 SAMD9 Chirag Patel commented on gene: SAMD9
Adrenal insufficiency v0.43 Chirag Patel Copied gene SAMD9 from panel Differences of Sex Development
Adrenal insufficiency v0.43 SAMD9 Chirag Patel gene: SAMD9 was added
gene: SAMD9 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome (MIM#617053)
Adrenal insufficiency v0.42 WNT4 Chirag Patel Marked gene: WNT4 as ready
Adrenal insufficiency v0.42 WNT4 Chirag Patel Gene: wnt4 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.42 WNT4 Chirag Patel gene: WNT4 was added
gene: WNT4 was added to Adrenal insufficiency. Sources: Expert List
Mode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT4 were set to 18179883
Phenotypes for gene: WNT4 were set to SERKAL syndrome, OMIM #611812
Review for gene: WNT4 was set to RED
Added comment: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome with adrenal anomalies has only been described in a single consanguineous kindred with four affected fetuses (A114V variant).
Sources: Expert List
Adrenal insufficiency v0.41 Chirag Patel Copied gene NNT from panel Mendeliome
Adrenal insufficiency v0.41 NNT Chirag Patel gene: NNT was added
gene: NNT was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 22634753; 23474776; 25879317; 26070314; 27129361; 40709434
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
Adrenal insufficiency v0.40 Chirag Patel Copied gene MRAP from panel Mendeliome
Adrenal insufficiency v0.40 MRAP Chirag Patel gene: MRAP was added
gene: MRAP was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRAP were set to 15654338
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398
Adrenal insufficiency v0.39 Chirag Patel Copied gene MC2R from panel Mendeliome
Adrenal insufficiency v0.39 MC2R Chirag Patel gene: MC2R was added
gene: MC2R was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: MC2R.
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MC2R were set to 8094489; 8227361
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Adrenal insufficiency v0.38 PCSK1 Chirag Patel commented on gene: PCSK1
Adrenal insufficiency v0.38 Chirag Patel Copied gene PCSK1 from panel Mendeliome
Adrenal insufficiency v0.38 PCSK1 Chirag Patel gene: PCSK1 was added
gene: PCSK1 was added to Adrenal insufficiency. Sources: Expert Review Green,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
Adrenal insufficiency v0.37 Chirag Patel Copied gene POMC from panel Mendeliome
Adrenal insufficiency v0.37 POMC Chirag Patel gene: POMC was added
gene: POMC was added to Adrenal insufficiency. 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
Adrenal insufficiency v0.36 Chirag Patel Copied gene SIX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.36 SIX3 Chirag Patel gene: SIX3 was added
gene: SIX3 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX3 were set to 35951005
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762
Adrenal insufficiency v0.35 Chirag Patel Copied gene GPR161 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.35 GPR161 Chirag Patel gene: GPR161 was added
gene: GPR161 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp,Genomics England PanelApp
Mode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR161 were set to 25322266
Phenotypes for gene: GPR161 were set to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related
Adrenal insufficiency v0.34 Chirag Patel Copied gene TGIF1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.34 TGIF1 Chirag Patel gene: TGIF1 was added
gene: TGIF1 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGIF1 were set to 23476075, 34440302
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4, MONDO:0007734
Adrenal insufficiency v0.33 Chirag Patel Copied gene SHH from panel Pituitary hormone deficiency
Adrenal insufficiency v0.33 SHH Chirag Patel gene: SHH was added
gene: SHH was added to Adrenal insufficiency. 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 Hypopituitarism, MONDO:0005152; Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Adrenal insufficiency v0.32 Chirag Patel Copied gene RBM28 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.32 RBM28 Chirag Patel gene: RBM28 was added
gene: RBM28 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 20231366; 18439547; 33941690
Phenotypes for gene: RBM28 were set to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Adrenal insufficiency v0.31 Chirag Patel Copied gene RAX from panel Pituitary hormone deficiency
Adrenal insufficiency v0.31 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Adrenal insufficiency. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30811539, 40321348
Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038
Adrenal insufficiency v0.30 Chirag Patel Copied gene KCNQ1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.30 KCNQ1 Chirag Patel gene: KCNQ1 was added
gene: KCNQ1 was added to Adrenal insufficiency. 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 Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500)
Adrenal insufficiency v0.29 Chirag Patel Copied gene ESRP2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.29 ESRP2 Chirag Patel gene: ESRP2 was added
gene: ESRP2 was added to Adrenal insufficiency. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152
Adrenal insufficiency v0.28 Chirag Patel Copied gene CDON from panel Pituitary hormone deficiency
Adrenal insufficiency v0.28 CDON Chirag Patel gene: CDON was added
gene: CDON was added to Adrenal insufficiency. 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; 29749693; 32729136; 33270637; 26529631; 27974186
Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)
Adrenal insufficiency v0.27 Chirag Patel Copied gene ARNT2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.27 ARNT2 Chirag Patel gene: ARNT2 was added
gene: ARNT2 was added to Adrenal insufficiency. Sources: Expert Review Amber,Literature,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475, 11381139
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome 615926
Adrenal insufficiency v0.26 Chirag Patel Copied gene ZRSR2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.26 ZRSR2 Chirag Patel gene: ZRSR2 was added
gene: ZRSR2 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, MIM# 301132
Adrenal insufficiency v0.25 Chirag Patel Copied gene TBX19 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.25 TBX19 Chirag Patel gene: TBX19 was added
gene: TBX19 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX19 were set to 15613420, 31998673, 11290323, 15476446, 22170728
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400
Adrenal insufficiency v0.24 Chirag Patel Copied gene TBC1D32 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.24 TBC1D32 Chirag Patel gene: TBC1D32 was added
gene: TBC1D32 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556; 24285566; 31130284; 36826837; 40319332
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Adrenal insufficiency v0.23 Chirag Patel Copied gene SOX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.23 SOX3 Chirag Patel gene: SOX3 was added
gene: SOX3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
SV/CNV tags were added to gene: SOX3.
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Adrenal insufficiency v0.22 Chirag Patel Copied gene ROBO1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.22 ROBO1 Chirag Patel gene: ROBO1 was added
gene: ROBO1 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ROBO1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to PMID: 30530901; 30692597; 33270637; 28402530
Phenotypes for gene: ROBO1 were set to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Adrenal insufficiency v0.21 Chirag Patel Copied gene HESX1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.21 HESX1 Chirag Patel gene: HESX1 was added
gene: HESX1 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Adrenal insufficiency v0.20 Chirag Patel Copied gene OTX2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.20 OTX2 Chirag Patel gene: OTX2 was added
gene: OTX2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Adrenal insufficiency v0.19 Chirag Patel Copied gene LHX4 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.19 LHX4 Chirag Patel gene: LHX4 was added
gene: LHX4 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX4.
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX4 were set to 18073311; 18445675; 11567216
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Adrenal insufficiency v0.18 Chirag Patel Copied gene LHX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.18 LHX3 Chirag Patel gene: LHX3 was added
gene: LHX3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX3.
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Adrenal insufficiency v0.17 Chirag Patel Copied gene HID1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.17 HID1 Chirag Patel gene: HID1 was added
gene: HID1 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Adrenal insufficiency v0.16 Chirag Patel Copied gene GLI3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.16 GLI3 Chirag Patel gene: GLI3 was added
gene: GLI3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp,Genomics England PanelApp
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 24736735; 15739154; 9054938 10945658 11693785
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Adrenal insufficiency v0.15 Chirag Patel Copied gene GLI2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.15 GLI2 Chirag Patel gene: GLI2 was added
gene: GLI2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI2 were set to 14581620; 17096318; 33235745; 27585885; 15994174; 20685856; 30629636; 30583238
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Adrenal insufficiency v0.14 Chirag Patel Copied gene NR0B1 from panel Mendeliome
Adrenal insufficiency v0.14 NR0B1 Chirag Patel gene: NR0B1 was added
gene: NR0B1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: NR0B1.
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NR0B1 were set to 19508677; 26030781
Phenotypes for gene: NR0B1 were set to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Adrenal insufficiency v0.13 Chirag Patel Copied gene CYP11B2 from panel Mendeliome
Adrenal insufficiency v0.13 CYP11B2 Chirag Patel gene: CYP11B2 was added
gene: CYP11B2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B2.
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B2 were set to 8439335; 9360501; 15240589; 9814506; 12788848; 8772616
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).
Adrenal insufficiency v0.12 Chirag Patel Copied gene STAR from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.12 STAR Chirag Patel gene: STAR was added
gene: STAR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAR were set to 7892608; 8634702
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia (MIM#201710)
Adrenal insufficiency v0.11 Chirag Patel Copied gene POR from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.11 POR Chirag Patel gene: POR was added
gene: POR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27068427
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Adrenal insufficiency v0.10 Chirag Patel Copied gene HSD3B2 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.10 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812; 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Adrenal insufficiency v0.9 Chirag Patel Copied gene CYP21A2 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.9 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Adrenal insufficiency v0.8 Chirag Patel Copied gene CYP17A1 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.8 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Adrenal insufficiency v0.7 Chirag Patel Copied gene CYP11B1 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.7 CYP11B1 Chirag Patel gene: CYP11B1 was added
gene: CYP11B1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B1.
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B1 were set to 8768848
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Adrenal insufficiency v0.6 Chirag Patel Copied gene CYP11A1 from panel Differences of Sex Development
Adrenal insufficiency v0.6 CYP11A1 Chirag Patel gene: CYP11A1 was added
gene: CYP11A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11A1 were set to 12161514; 16705068; 18182448; 28425981
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Adrenal insufficiency v0.5 Chirag Patel Copied gene CDKN1C from panel Differences of Sex Development
Adrenal insufficiency v0.5 CDKN1C Chirag Patel gene: CDKN1C was added
gene: CDKN1C was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 22634751; 33076988; 31976094; 31497289
Phenotypes for gene: CDKN1C were set to IMAGe syndrome, MIM# 614732
Mode of pathogenicity for gene: CDKN1C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adrenal insufficiency v0.4 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Adrenal insufficiency v0.3 Chirag Patel HPO terms changed from to Adrenal insufficiency, HP:0000846; Congenital adrenal hypoplasia, HP:0008244
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Marked gene: TXNRD2 as ready
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Gene: txnrd2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Publications for gene: TXNRD2 were set to 24601690; 21247928; 34258490
Adrenal insufficiency v0.1 Zornitza Stark Copied gene TXNRD2 from panel Mendeliome
Adrenal insufficiency v0.1 TXNRD2 Zornitza Stark gene: TXNRD2 was added
gene: TXNRD2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNRD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNRD2 were set to 24601690; 21247928; 34258490
Phenotypes for gene: TXNRD2 were set to Glucocorticoid deficiency 5 (GCCD5), MIM#617825; MONDO:0040502
Adrenal insufficiency v0.0 Chirag Patel Added Panel Adrenal insufficiency