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| Disorders of sex development v3.3 | NR3C1 | Arina Puzriakova Tag Q2_21_rating was removed from gene: NR3C1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v3.3 | NR3C1 |
Arina Puzriakova Source Expert Review Green was added to NR3C1. Source NHS GMS was added to NR3C1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Disorders of sex development v3.2 | NR3C1 | Arina Puzriakova reviewed gene: NR3C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.44 | NR3C1 | Ivone Leong Publications for gene: NR3C1 were set to 30158362; 31995340; 19933394; 7683692; 11932321; 31145715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.43 | NR3C1 |
Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia. There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715). There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review. |
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| Disorders of sex development v2.43 | NR3C1 | Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.42 | NR3C1 | Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.41 | NR3C1 | Ivone Leong Mode of inheritance for gene: NR3C1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.40 | NR3C1 | Ivone Leong Publications for gene: NR3C1 were set to 30158362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.39 | NR3C1 | Ivone Leong Classified gene: NR3C1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.39 | NR3C1 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia. There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715). There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review. |
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| Disorders of sex development v2.39 | NR3C1 | Ivone Leong Gene: nr3c1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.38 | NR3C1 | Ivone Leong Tag Q2_21_rating tag was added to gene: NR3C1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.38 | NR3C1 | Ivone Leong Phenotypes for gene: NR3C1 were changed from Glucocorticoid resistance (MIM#615962) to Glucocorticoid resistance, OMIM:615962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.4 | NR3C1 |
Zornitza Stark gene: NR3C1 was added gene: NR3C1 was added to Disorders of sex development. Sources: Expert list Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR3C1 were set to 30158362 Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance (MIM#615962) Review for gene: NR3C1 was set to GREEN gene: NR3C1 was marked as current diagnostic Added comment: Features include hyperandrogenism with features of ambiguous genitalia, precocious puberty, advanced bone age, infertility, amenorrhea, clitoromegaly, oligospermia. PMID: 30158362: Review of >5 patients reported with the associated phenotype. Sources: Expert list |
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