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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