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Prepair 1000+ v1.929 TF Zornitza Stark Marked gene: TF as ready
Prepair 1000+ v1.929 TF Zornitza Stark Gene: tf has been classified as Green List (High Evidence).
Prepair 1000+ v1.929 TF Zornitza Stark Phenotypes for gene: TF were changed from Atransferrinemia MIM#209300 to Atransferrinaemia MIM#209300
Prepair 1000+ v1.928 TF Zornitza Stark Phenotypes for gene: TF were changed from Atransferrinemia, 209300 (3) to Atransferrinemia MIM#209300
Prepair 1000+ v1.927 TF Zornitza Stark Publications for gene: TF were set to
Prepair 1000+ v1.907 ETFB Zornitza Stark Marked gene: ETFB as ready
Prepair 1000+ v1.907 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Prepair 1000+ v1.907 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, MIM# 231680 to Glutaric acidaemia IIB, MIM# 231680
Prepair 1000+ v1.906 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB, 231680 (3) to Glutaric acidemia IIB, MIM# 231680
Prepair 1000+ v1.905 ETFB Zornitza Stark Publications for gene: ETFB were set to
Prepair 1000+ v1.836 ETFB Lauren Thomas reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7912128, 12815589, 27081516, 12706375, 30626930; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: None
Prepair 1000+ v1.836 TF Lucy Spencer reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32028041; Phenotypes: Atransferrinemia MIM#209300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.778 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Prepair 1000+ v1.778 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.778 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from Bardet-Biedl syndrome 17, 615994 (3) to Bardet-Biedl syndrome 17 MIM#615994; MONDO:0014445
Prepair 1000+ v1.777 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Prepair 1000+ v1.638 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Prepair 1000+ v1.638 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Prepair 1000+ v1.638 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947 (3) to Leigh Syndrome MONDO:0009723
Prepair 1000+ v1.637 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Prepair 1000+ v1.633 LZTFL1 Marta Cifuentes Ochoa reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986, 38801250, 32686083, 37239474; Phenotypes: Bardet-Biedl syndrome 17 MIM#615994, MONDO:0014445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.633 MTFMT Andrew Coventry reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348, 30911575; Phenotypes: Leigh Syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.623 GTF2H5 Lilian Downie Marked gene: GTF2H5 as ready
Prepair 1000+ v1.623 GTF2H5 Lilian Downie Gene: gtf2h5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.623 GTF2H5 Lilian Downie Phenotypes for gene: GTF2H5 were changed from Trichothiodystrophy 3, photosensitive, 616395 (3) to Trichothiodystrophy 3, photosensitive, MIM# 616395
Prepair 1000+ v1.622 GTF2H5 Lilian Downie Publications for gene: GTF2H5 were set to
Prepair 1000+ v1.620 ATF6 Lilian Downie Marked gene: ATF6 as ready
Prepair 1000+ v1.620 ATF6 Lilian Downie Gene: atf6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.620 ATF6 Lilian Downie Phenotypes for gene: ATF6 were changed from Achromatopsia 7, 616517 (3), Autosomal recessive to Achromatopsia 7, MIM# 616517
Prepair 1000+ v1.619 ATF6 Lilian Downie Publications for gene: ATF6 were set to
Prepair 1000+ v1.557 ATF6 Lauren Thomas reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM# 616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.553 GTF2H5 Ee Ming Wong reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30359777, 24986372, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.179 ETFA Zornitza Stark Marked gene: ETFA as ready
Prepair 1000+ v1.179 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Prepair 1000+ v1.179 ETFA Zornitza Stark Publications for gene: ETFA were set to
Prepair 1000+ v1.168 ETFA Lucy Spencer reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ETFDH Lilian Downie Marked gene: ETFDH as ready
Prepair 1000+ v1.9 ETFDH Lilian Downie Gene: etfdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.9 ETFDH Lilian Downie Publications for gene: ETFDH were set to 31904027
Prepair 1000+ v1.8 ETFDH Lilian Downie Publications for gene: ETFDH were set to
Prepair 1000+ v1.7 ETFDH Lauren Rogers reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 TF Seb Lunke Added phenotypes Atransferrinemia, 209300 (3) for gene: TF
Prepair 1000+ v1.3 MTFMT Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947 (3) for gene: MTFMT
Prepair 1000+ v1.3 LZTFL1 Seb Lunke Added phenotypes Bardet-Biedl syndrome 17, 615994 (3) for gene: LZTFL1
Prepair 1000+ v1.3 ETFDH Seb Lunke Added phenotypes Glutaric acidemia IIC, 231680 (3) for gene: ETFDH
Prepair 1000+ v1.3 ETFB Seb Lunke Added phenotypes Glutaric acidemia IIB, 231680 (3) for gene: ETFB
Prepair 1000+ v1.3 ETFA Seb Lunke Added phenotypes Glutaric acidemia IIA, 231680 (3) for gene: ETFA
Prepair 1000+ v0.164 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Prepair 1000+ v0.164 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.164 TFR2 Zornitza Stark Phenotypes for gene: TFR2 were changed from Hemochromatosis, type 3, MIM#604250 to Haemochromatosis, type 3, MIM#604250
Prepair 1000+ v0.163 TFR2 Zornitza Stark Classified gene: TFR2 as Red List (low evidence)
Prepair 1000+ v0.163 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.162 TFR2 Zornitza Stark Tag for review was removed from gene: TFR2.
Prepair 1000+ v0.162 TFR2 Zornitza Stark reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, type 3, MIM#604250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.94 TFR2 Zornitza Stark Tag for review tag was added to gene: TFR2.
Prepair 1000+ v0.85 TFR2 Crystle Lee gene: TFR2 was added
gene: TFR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 29743178
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3, MIM#604250
Review for gene: TFR2 was set to AMBER
Added comment: Age of onset in individuals with TFR2-HHC is earlier than in individuals with HFE-associated hereditary hemochromatosis (Gene Reviews)

PMID: 29743178: Mean age at diagnosis for TFR2 HH (32 years) was significantly higher than for HJV HH
Sources: Literature
Prepair 1000+ v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TF were set to Atransferrinemia, 209300 (3)
Prepair 1000+ v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)
Prepair 1000+ v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Prepair 1000+ v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3)
Prepair 1000+ v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)
Prepair 1000+ v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)
Prepair 1000+ v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)
Prepair 1000+ v0.0 ATF6 Zornitza Stark gene: ATF6 was added
gene: ATF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive