Activity

Filter

Cancel
Date Panel Item Activity
60 actions
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