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Congenital adrenal hypoplasia v3.11 KDM1A Achchuthan Shanmugasundram Phenotypes for gene: KDM1A were changed from Food-dependent Cushing syndrome (FDCS) to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; congenital adrenal hyperplasia, MONDO:0018479
Congenital adrenal hypoplasia v3.10 KDM1A Achchuthan Shanmugasundram Classified gene: KDM1A as Red List (low evidence)
Congenital adrenal hypoplasia v3.10 KDM1A Achchuthan Shanmugasundram Gene: kdm1a has been classified as Red List (Low Evidence).
Congenital adrenal hypoplasia v3.9 KDM1A Achchuthan Shanmugasundram reviewed gene: KDM1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728, congenital adrenal hyperplasia, MONDO:0018479; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital adrenal hypoplasia v3.9 KDM1A Lauma Freimane edited their review of gene: KDM1A: Changed publications to: 34906447, 34655521
Congenital adrenal hypoplasia v3.9 KDM1A Lauma Freimane gene: KDM1A was added
gene: KDM1A was added to Congenital adrenal hypoplasia. Sources: Expert Review
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM1A were set to 34906447
Phenotypes for gene: KDM1A were set to Food-dependent Cushing syndrome (FDCS)
Review for gene: KDM1A was set to GREEN
gene: KDM1A was marked as current diagnostic
Added comment: KDM1A inactivation explains about 90% of food-dependent Cushing syndrome observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) (PMID: 34906447).
Sources: Expert Review
Congenital adrenal hypoplasia v3.6 CYP11B2 Achchuthan Shanmugasundram commented on gene: CYP11B2: 'Treatable' tag has been added as children with ASD achieved catchup growth when treated with fludrocortisone.
Congenital adrenal hypoplasia v3.6 CYP11B2 Achchuthan Shanmugasundram Tag treatable tag was added to gene: CYP11B2.
Congenital adrenal hypoplasia v3.6 CYP11B2 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CYP11B2.
Congenital adrenal hypoplasia v3.6 CYP11B2 Achchuthan Shanmugasundram edited their review of gene: CYP11B2: Changed phenotypes to: Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400, Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600, Aldosterone to renin ratio raised
Congenital adrenal hypoplasia v3.6 CYP11B2 Achchuthan Shanmugasundram Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600 to Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600; Aldosterone to renin ratio raised
Congenital adrenal hypoplasia v3.5 CYP11B2 Achchuthan Shanmugasundram Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism; Hyponatremia; Hyperkalemia; Increased serum renin; Dehydration; Failure to thrive to Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600
Congenital adrenal hypoplasia v3.4 CYP11B2 Achchuthan Shanmugasundram Publications for gene: CYP11B2 were set to 1594605; 8439335; 9360501; 12788848
Congenital adrenal hypoplasia v3.3 CYP11B2 Achchuthan Shanmugasundram Classified gene: CYP11B2 as Amber List (moderate evidence)
Congenital adrenal hypoplasia v3.3 CYP11B2 Achchuthan Shanmugasundram Gene: cyp11b2 has been classified as Amber List (Moderate Evidence).
Congenital adrenal hypoplasia v3.2 CYP11B2 Achchuthan Shanmugasundram reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594605, 8439335, 9360501, 12788848, 31302112, 33098647, 33438832, 34415991, 35848593; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400, Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital adrenal hypoplasia v3.2 CYP11A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1.
Congenital adrenal hypoplasia v3.2 CYP11A1 Arina Puzriakova commented on gene: CYP11A1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Congenital adrenal hypoplasia v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Congenital adrenal hypoplasia v3.0 Catherine Snow promoted panel to version 3.0
Congenital adrenal hypoplasia v2.11 CYP11B2 Abhijit Dixit gene: CYP11B2 was added
gene: CYP11B2 was added to Congenital adrenal hypoplasia. Sources: Literature
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B2 were set to 1594605; 8439335; 9360501; 12788848
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism; Hyponatremia; Hyperkalemia; Increased serum renin; Dehydration; Failure to thrive
Penetrance for gene: CYP11B2 were set to Complete
Review for gene: CYP11B2 was set to GREEN
Added comment: There are numerous reports of aldosterone deficiency as a consequence of biallelic CYP11B2 variants in literature from 1990s onwards. Miao et al. reviewed 45 published cases in 2019 - see PubMed 31302112.
Sources: Literature
Congenital adrenal hypoplasia v2.11 CYP11A1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11A1.
Congenital adrenal hypoplasia v2.11 CYP11A1 Arina Puzriakova Publications for gene: CYP11A1 were set to
Congenital adrenal hypoplasia v2.10 CYP11A1 Arina Puzriakova Added comment: Comment on mode of inheritance: Homozygous, compound heterozygous, and heterozygous (although most rare) variants in the CYP11A1 gene have all been associated with disease. Therefore, MOI should be updated to 'Both mono- and biallelic' at the next GMS panel update.
Congenital adrenal hypoplasia v2.10 CYP11A1 Arina Puzriakova Mode of inheritance for gene: CYP11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital adrenal hypoplasia v2.9 POLE Ivone Leong Tag for-review was removed from gene: POLE.
Congenital adrenal hypoplasia v2.9 POLE Ivone Leong commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital adrenal hypoplasia v2.8 POLE Ivone Leong Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital adrenal hypoplasia v2.7 CYP11A1 Arina Puzriakova Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743; Congenital Adrenal Insufficiency to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Congenital adrenal hypoplasia v2.6 POLE Ivone Leong Classified gene: POLE as Amber List (moderate evidence)
Congenital adrenal hypoplasia v2.6 POLE Ivone Leong Gene: pole has been classified as Amber List (Moderate Evidence).
Congenital adrenal hypoplasia v2.5 POLE Ivone Leong gene: POLE was added
gene: POLE was added to Congenital adrenal hypoplasia. Sources: Expert Review
for-review tags were added to gene: POLE.
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 14760276; 30503519
Phenotypes for gene: POLE were set to IMAGE-I syndrome, OMIM:618336
Review for gene: POLE was set to GREEN
Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore, enough evidence to support a gene-disease association. This gene should be Green at the next review.

This gene was also proposed to be added and given Green status by Soo-Mi Park (East Anglian Medical Genetics Service).
Sources: Expert Review
Congenital adrenal hypoplasia v2.4 AAAS Arina Puzriakova Phenotypes for gene: AAAS were changed from Triple A syndrome (Addisons, achalasia, alacrima), 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Congenital adrenal hypoplasia v2.3 Sarah Leigh Panel version has been signed off
Congenital adrenal hypoplasia v2.0 SGPL1 Louise Daugherty Tag watchlist was removed from gene: SGPL1.
Congenital adrenal hypoplasia v2.0 SGPL1 Louise Daugherty commented on gene: SGPL1
Congenital adrenal hypoplasia v2.0 Ivone Leong promoted panel to version 2.0
Congenital adrenal hypoplasia v1.11 Ivone Leong List of related panels changed from to R150
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Congenital adrenal hypoplasia v1.10 STAR Ivone Leong Phenotypes for gene: STAR were changed from Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia, 201710
Congenital adrenal hypoplasia v1.9 CDKN1C Ivone Leong Phenotypes for gene: CDKN1C were changed from Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome) to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732
Congenital adrenal hypoplasia v1.8 AAAS Ivone Leong Phenotypes for gene: AAAS were changed from Triple A syndrome (Addisons, achalasia, alacrima) to Triple A syndrome (Addisons, achalasia, alacrima), 231550
Congenital adrenal hypoplasia v1.7 CDKN1C Anna de Burca commented on gene: CDKN1C
Congenital adrenal hypoplasia v1.7 TBX19 Ivone Leong commented on gene: TBX19
Congenital adrenal hypoplasia v1.7 STAR Ivone Leong commented on gene: STAR
Congenital adrenal hypoplasia v1.7 SGPL1 Ivone Leong commented on gene: SGPL1
Congenital adrenal hypoplasia v1.7 SAMD9 Ivone Leong commented on gene: SAMD9
Congenital adrenal hypoplasia v1.7 NR5A1 Ivone Leong commented on gene: NR5A1
Congenital adrenal hypoplasia v1.7 NR0B1 Ivone Leong commented on gene: NR0B1
Congenital adrenal hypoplasia v1.7 NNT Ivone Leong commented on gene: NNT
Congenital adrenal hypoplasia v1.7 MRAP Ivone Leong commented on gene: MRAP
Congenital adrenal hypoplasia v1.7 MC2R Ivone Leong commented on gene: MC2R
Congenital adrenal hypoplasia v1.7 CYP11A1 Ivone Leong commented on gene: CYP11A1
Congenital adrenal hypoplasia v1.7 CDKN1C Ivone Leong commented on gene: CDKN1C
Congenital adrenal hypoplasia v1.7 AIRE Ivone Leong commented on gene: AIRE
Congenital adrenal hypoplasia v1.7 AAAS Ivone Leong commented on gene: AAAS
Congenital adrenal hypoplasia v1.6 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Congenital adrenal hypoplasia ABCD1 Ellen McDonagh commented on ABCD1
Congenital adrenal hypoplasia SGPL1 Ellen McDonagh classified SGPL1 as Green List (high evidence)
Congenital adrenal hypoplasia SGPL1 Ellen Thomas Added gene to panel
Congenital adrenal hypoplasia SAMD9 Helen Brittain classified SAMD9 as green
Congenital adrenal hypoplasia SAMD9 Helen Brittain marked SAMD9 as ready
Congenital adrenal hypoplasia SAMD9 Helen Brittain added SAMD9 to panel
Congenital adrenal hypoplasia SAMD9 Helen Brittain reviewed SAMD9
Congenital adrenal hypoplasia Ellen McDonagh promoted panel to version 1
Congenital adrenal hypoplasia MCM4 Ellen McDonagh marked MCM4 as ready
Congenital adrenal hypoplasia MCM4 Ellen McDonagh classified MCM4 as amber
Congenital adrenal hypoplasia TBX19 Ellen McDonagh marked TBX19 as ready
Congenital adrenal hypoplasia TBX19 Ellen McDonagh classified TBX19 as green
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh marked HSD3B2 as ready
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh classified HSD3B2 as red
Congenital adrenal hypoplasia TBX19 Ellen McDonagh edited their review of TBX19
Congenital adrenal hypoplasia TBX19 Ellen McDonagh classified TBX19 as amber
Congenital adrenal hypoplasia TBX19 Ellen McDonagh commented on TBX19
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh classified HSD3B2 as amber
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh commented on HSD3B2
Congenital adrenal hypoplasia MCM4 Ellen McDonagh commented on MCM4
Congenital adrenal hypoplasia TXNRD2 Ellen Thomas marked TXNRD2 as ready
Congenital adrenal hypoplasia TXNRD2 Ellen Thomas classified TXNRD2 as red
Congenital adrenal hypoplasia TXNRD2 Ellen Thomas commented on TXNRD2
Congenital adrenal hypoplasia AAAS Ellen Thomas marked AAAS as ready
Congenital adrenal hypoplasia AAAS Ellen Thomas classified AAAS as green
Congenital adrenal hypoplasia AAAS Ellen Thomas commented on AAAS
Congenital adrenal hypoplasia STAR Ellen Thomas marked STAR as ready
Congenital adrenal hypoplasia STAR Ellen Thomas classified STAR as green
Congenital adrenal hypoplasia STAR Ellen Thomas commented on STAR
Congenital adrenal hypoplasia NR5A1 Ellen Thomas marked NR5A1 as ready
Congenital adrenal hypoplasia NR5A1 Ellen Thomas classified NR5A1 as green
Congenital adrenal hypoplasia NR5A1 Ellen Thomas commented on NR5A1
Congenital adrenal hypoplasia NNT Ellen Thomas marked NNT as ready