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Rare anaemia v0.6 GPI Louise Daugherty reviewed gene: GPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 GLRX5 Louise Daugherty reviewed gene: GLRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 GCLC Louise Daugherty reviewed gene: GCLC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 GATA1 Louise Daugherty reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 G6PD Louise Daugherty reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 EPB42 Louise Daugherty reviewed gene: EPB42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 EPB41 Louise Daugherty reviewed gene: EPB41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 DHFR Louise Daugherty reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 CYB5R3 Louise Daugherty reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 CUBN Louise Daugherty reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 COX4I2 Louise Daugherty reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 CDAN1 Louise Daugherty reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 C15orf41 Louise Daugherty reviewed gene: C15orf41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 ANK1 Louise Daugherty reviewed gene: ANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 AMN Louise Daugherty reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 ALDOA Louise Daugherty reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 AK1 Louise Daugherty reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 ADA2 Louise Daugherty reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 ABCG8 Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 ABCG5 Louise Daugherty reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.6 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 YARS2 Carl Fratter reviewed gene: YARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 TSR2 Carl Fratter reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 TRNT1 Carl Fratter reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 TPI1 Carl Fratter reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 TMPRSS6 Carl Fratter reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 TF Carl Fratter reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 TCN2 Carl Fratter reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 STEAP3 Carl Fratter reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 SPTB Carl Fratter reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SPTA1 Carl Fratter reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SLC4A1 Carl Fratter reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SLC2A1 Carl Fratter reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SLC25A38 Carl Fratter reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SLC19A2 Carl Fratter reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SLC11A2 Carl Fratter reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SEC23B Carl Fratter reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 SBDS Carl Fratter reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS7 Carl Fratter reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS29 Carl Fratter reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS28 Carl Fratter reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 RPS27 Carl Fratter reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS26 Carl Fratter reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS24 Carl Fratter reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS19 Carl Fratter reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS17 Carl Fratter reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPS10 Carl Fratter reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPL9 Carl Fratter reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPL5 Carl Fratter reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPL35A Carl Fratter reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPL31 Carl Fratter reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 RPL27 Carl Fratter reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPL26 Carl Fratter reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RPL18 Carl Fratter reviewed gene: RPL18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 RPL15 Carl Fratter reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 RPL11 Carl Fratter reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 RHAG Carl Fratter reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 PUS1 Carl Fratter reviewed gene: PUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 PKLR Carl Fratter reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 PIEZO1 Carl Fratter reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 PFKM Carl Fratter reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 NT5C3A Carl Fratter reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 NDUFB11 Carl Fratter reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 MTRR Carl Fratter reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 MTR Carl Fratter reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 LPIN2 Carl Fratter reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 LARS2 Carl Fratter reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 KLF1 Carl Fratter reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 KIF23 Carl Fratter reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 KCNN4 Carl Fratter reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 HSPA9 Carl Fratter reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 HK1 Carl Fratter reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 HBG2 Carl Fratter reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 HBG1 Carl Fratter reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 HBD Carl Fratter reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 HBB Carl Fratter reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 HBA2 Carl Fratter reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 HBA1 Carl Fratter reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 GSS Carl Fratter reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 GSR Carl Fratter reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 GPI Carl Fratter reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 GLRX5 Carl Fratter reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 GCLC Carl Fratter reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 GATA1 Carl Fratter reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 G6PD Carl Fratter reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 EPB42 Carl Fratter reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 EPB41 Carl Fratter reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 DHFR Carl Fratter reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 CYB5R3 Carl Fratter reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 CUBN Carl Fratter reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 COX4I2 Carl Fratter reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 CDAN1 Carl Fratter reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 C15orf41 Carl Fratter reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 ANK1 Carl Fratter reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 AMN Carl Fratter reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 ALDOA Carl Fratter reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 ALAS2 Carl Fratter reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.5 AK1 Carl Fratter reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 ADA2 Carl Fratter reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 ABCG8 Carl Fratter reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 ABCG5 Carl Fratter reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 ABCB7 Carl Fratter reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.4 YARS2 Louise Daugherty Source NHS GMS was added to YARS2.
Rare anaemia v0.4 TSR2 Louise Daugherty Source NHS GMS was added to TSR2.
Rare anaemia v0.4 TRNT1 Louise Daugherty Source NHS GMS was added to TRNT1.
Rare anaemia v0.4 TPI1 Louise Daugherty Source NHS GMS was added to TPI1.
Rare anaemia v0.4 TMPRSS6 Louise Daugherty Source NHS GMS was added to TMPRSS6.
Rare anaemia v0.4 TF Louise Daugherty Source NHS GMS was added to TF.
Rare anaemia v0.4 TCN2 Louise Daugherty Source NHS GMS was added to TCN2.
Rare anaemia v0.4 STEAP3 Louise Daugherty Source NHS GMS was added to STEAP3.
Rare anaemia v0.4 SPTB Louise Daugherty Source NHS GMS was added to SPTB.
Rare anaemia v0.4 SPTA1 Louise Daugherty Source NHS GMS was added to SPTA1.
Rare anaemia v0.4 SLC4A1 Louise Daugherty Source NHS GMS was added to SLC4A1.
Rare anaemia v0.4 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Rare anaemia v0.4 SLC25A38 Louise Daugherty Source NHS GMS was added to SLC25A38.
Rare anaemia v0.4 SLC19A2 Louise Daugherty Source NHS GMS was added to SLC19A2.
Rare anaemia v0.4 SLC11A2 Louise Daugherty Source NHS GMS was added to SLC11A2.
Rare anaemia v0.4 SEC23B Louise Daugherty Source NHS GMS was added to SEC23B.
Rare anaemia v0.4 SBDS Louise Daugherty Source NHS GMS was added to SBDS.
Rare anaemia v0.4 RPS7 Louise Daugherty Source NHS GMS was added to RPS7.
Rare anaemia v0.4 RPS29 Louise Daugherty Source NHS GMS was added to RPS29.
Rare anaemia v0.4 RPS28 Louise Daugherty Source NHS GMS was added to RPS28.
Rare anaemia v0.4 RPS27 Louise Daugherty Source NHS GMS was added to RPS27.
Rare anaemia v0.4 RPS26 Louise Daugherty Source NHS GMS was added to RPS26.
Rare anaemia v0.4 RPS24 Louise Daugherty Source NHS GMS was added to RPS24.
Rare anaemia v0.4 RPS19 Louise Daugherty Source NHS GMS was added to RPS19.
Rare anaemia v0.4 RPS17 Louise Daugherty Source NHS GMS was added to RPS17.
Rare anaemia v0.4 RPS10 Louise Daugherty Source NHS GMS was added to RPS10.
Rare anaemia v0.4 RPL9 Louise Daugherty Source NHS GMS was added to RPL9.
Rare anaemia v0.4 RPL5 Louise Daugherty Source NHS GMS was added to RPL5.
Rare anaemia v0.4 RPL35A Louise Daugherty Source NHS GMS was added to RPL35A.
Rare anaemia v0.4 RPL31 Louise Daugherty Source NHS GMS was added to RPL31.
Rare anaemia v0.4 RPL27 Louise Daugherty Source NHS GMS was added to RPL27.
Rare anaemia v0.4 RPL26 Louise Daugherty Source NHS GMS was added to RPL26.
Rare anaemia v0.4 RPL18 Louise Daugherty Source NHS GMS was added to RPL18.
Rare anaemia v0.4 RPL15 Louise Daugherty Source NHS GMS was added to RPL15.
Rare anaemia v0.4 RPL11 Louise Daugherty Source NHS GMS was added to RPL11.
Rare anaemia v0.4 RHAG Louise Daugherty Source NHS GMS was added to RHAG.
Rare anaemia v0.4 PUS1 Louise Daugherty Source NHS GMS was added to PUS1.
Rare anaemia v0.4 PKLR Louise Daugherty Source NHS GMS was added to PKLR.
Rare anaemia v0.4 PIEZO1 Louise Daugherty Source NHS GMS was added to PIEZO1.
Rare anaemia v0.4 PFKM Louise Daugherty Source NHS GMS was added to PFKM.
Rare anaemia v0.4 NT5C3A Louise Daugherty Source NHS GMS was added to NT5C3A.
Rare anaemia v0.4 NDUFB11 Louise Daugherty Source NHS GMS was added to NDUFB11.
Rare anaemia v0.4 MTRR Louise Daugherty Source NHS GMS was added to MTRR.
Rare anaemia v0.4 MTR Louise Daugherty Source NHS GMS was added to MTR.
Rare anaemia v0.4 LPIN2 Louise Daugherty Source NHS GMS was added to LPIN2.
Rare anaemia v0.4 LARS2 Louise Daugherty Source NHS GMS was added to LARS2.
Rare anaemia v0.4 KLF1 Louise Daugherty Source NHS GMS was added to KLF1.
Rare anaemia v0.4 KIF23 Louise Daugherty Source NHS GMS was added to KIF23.
Rare anaemia v0.4 KCNN4 Louise Daugherty Source NHS GMS was added to KCNN4.
Rare anaemia v0.4 HSPA9 Louise Daugherty Source NHS GMS was added to HSPA9.
Rare anaemia v0.4 HK1 Louise Daugherty Source NHS GMS was added to HK1.
Rare anaemia v0.4 HBG2 Louise Daugherty Source NHS GMS was added to HBG2.
Rare anaemia v0.4 HBG1 Louise Daugherty Source NHS GMS was added to HBG1.
Rare anaemia v0.4 HBD Louise Daugherty Source NHS GMS was added to HBD.
Rare anaemia v0.4 HBB Louise Daugherty Source NHS GMS was added to HBB.
Rare anaemia v0.4 HBA2 Louise Daugherty Source NHS GMS was added to HBA2.
Rare anaemia v0.4 HBA1 Louise Daugherty Source NHS GMS was added to HBA1.
Rare anaemia v0.4 GSS Louise Daugherty Source NHS GMS was added to GSS.
Rare anaemia v0.4 GSR Louise Daugherty Source NHS GMS was added to GSR.
Rare anaemia v0.4 GPI Louise Daugherty Source NHS GMS was added to GPI.
Rare anaemia v0.4 GLRX5 Louise Daugherty Source NHS GMS was added to GLRX5.
Rare anaemia v0.4 GCLC Louise Daugherty Source NHS GMS was added to GCLC.
Rare anaemia v0.4 GATA1 Louise Daugherty Source NHS GMS was added to GATA1.
Rare anaemia v0.4 G6PD Louise Daugherty Source NHS GMS was added to G6PD.
Rare anaemia v0.4 EPB42 Louise Daugherty Source NHS GMS was added to EPB42.
Rare anaemia v0.4 EPB41 Louise Daugherty Source NHS GMS was added to EPB41.
Rare anaemia v0.4 DHFR Louise Daugherty Source NHS GMS was added to DHFR.
Rare anaemia v0.4 CYB5R3 Louise Daugherty Source NHS GMS was added to CYB5R3.
Rare anaemia v0.4 CUBN Louise Daugherty Source NHS GMS was added to CUBN.
Rare anaemia v0.4 COX4I2 Louise Daugherty Source NHS GMS was added to COX4I2.
Rare anaemia v0.4 CDAN1 Louise Daugherty Source NHS GMS was added to CDAN1.
Rare anaemia v0.4 C15orf41 Louise Daugherty Source NHS GMS was added to C15orf41.
Rare anaemia v0.4 ANK1 Louise Daugherty Source NHS GMS was added to ANK1.
Rare anaemia v0.4 AMN Louise Daugherty Source NHS GMS was added to AMN.
Rare anaemia v0.4 ALDOA Louise Daugherty Source NHS GMS was added to ALDOA.
Rare anaemia v0.4 ALAS2 Louise Daugherty Source NHS GMS was added to ALAS2.
Rare anaemia v0.4 AK1 Louise Daugherty Source NHS GMS was added to AK1.
Rare anaemia v0.4 ADA2 Louise Daugherty Source NHS GMS was added to ADA2.
Rare anaemia v0.4 ABCG8 Louise Daugherty Source NHS GMS was added to ABCG8.
Rare anaemia v0.4 ABCG5 Louise Daugherty Source NHS GMS was added to ABCG5.
Rare anaemia v0.4 ABCB7 Louise Daugherty Source NHS GMS was added to ABCB7.
Rare anaemia v0.3 YARS2 Louise Daugherty Source Expert Review Amber was added to YARS2.
Mode of inheritance for gene YARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Publications for gene YARS2 were changed from to 24430573; 24344687; 20598274
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 TSR2 Louise Daugherty Source Expert Review Amber was added to TSR2.
Mode of inheritance for gene TSR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2
Publications for gene TSR2 were changed from to 24942156; 20301769
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 TRNT1 Louise Daugherty Source Expert Review Green was added to TRNT1.
Added phenotypes sideroblastic anaemia for gene: TRNT1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 TPI1 Louise Daugherty Source Expert Review Green was added to TPI1.
Mode of inheritance for gene TPI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1
Publications for gene TPI1 were changed from to 10910933; 17879449; 20374271; 7485100
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 TMPRSS6 Louise Daugherty Source Expert Review Green was added to TMPRSS6.
Mode of inheritance for gene TMPRSS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia for gene: TMPRSS6
Publications for gene TMPRSS6 were changed from to 18408718
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 TF Louise Daugherty Source Expert Review Amber was added to TF.
Mode of inheritance for gene TF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Atransferrinemia, 209300; Congenital hypotransferrinemia for gene: TF
Publications for gene TF were changed from to 3472216; 1862777; 11110675; 8187613; 10660486
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 TCN2 Louise Daugherty Source Expert Review Amber was added to TCN2.
Mode of inheritance for gene TCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes megaloblastic bone marrow; failure to thrive; pancytopenia; neutropenic colitis; thrombocytopenia; Transcobalamin II deficiency; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia for gene: TCN2
Publications for gene TCN2 were changed from to 7980584; 7849710; 18956254; 24305960; 20352340
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 STEAP3 Louise Daugherty Source Expert Review Amber was added to STEAP3.
Added phenotypes hypochromic anaemia for gene: STEAP3
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 SPTB Louise Daugherty Source Expert Review Green was added to SPTB.
Mode of inheritance for gene SPTB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB
Publications for gene SPTB were changed from to 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SPTA1 Louise Daugherty Source Expert Review Green was added to SPTA1.
Mode of inheritance for gene SPTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; RBC membrane abnormality for gene: SPTA1
Publications for gene SPTA1 were changed from to 2794061; 3597773; 16150946; 8226774; 3785322; 1353056; 2567189; 8941647; 1541680
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SLC4A1 Louise Daugherty Source Expert Review Green was added to SLC4A1.
Mode of inheritance for gene SLC4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653; RBC membrane abnormality; Cryohydrocytosis,185020; Haemolytic Anemia for gene: SLC4A1
Publications for gene SLC4A1 were changed from to 8608262; 7949112; 8471774; 16227998; 8547122; 2146504; 1722314; 8282779
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SLC2A1 Louise Daugherty Source Expert Review Green was added to SLC2A1.
Mode of inheritance for gene SLC2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1
Publications for gene SLC2A1 were changed from to 22492876; 21791420; 15180870
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SLC25A38 Louise Daugherty Source Expert Review Green was added to SLC25A38.
Mode of inheritance for gene SLC25A38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
Publications for gene SLC25A38 were changed from to 19412178
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SLC19A2 Louise Daugherty Source Expert Review Green was added to SLC19A2.
Mode of inheritance for gene SLC19A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 for gene: SLC19A2
Publications for gene SLC19A2 were changed from to 10391221
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SLC11A2 Louise Daugherty Source Expert Review Green was added to SLC11A2.
Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Publications for gene SLC11A2 were changed from to 16160008; 16439678; 15459009
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SEC23B Louise Daugherty Source Expert Review Green was added to SEC23B.
Mode of inheritance for gene SEC23B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital Dyserythropoietic Anemia; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100 for gene: SEC23B
Publications for gene SEC23B were changed from to 19561605; 19621418
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 SBDS Louise Daugherty Source Expert Review Green was added to SBDS.
Mode of inheritance for gene SBDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Shwachman-Diamond syndrome for gene: SBDS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS7 Louise Daugherty Source Expert Review Green was added to RPS7.
Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes DIAMOND-BLACKFAN ANEMIA 8; Diamond_Blackfan Anemia 8; Diamond-Blackfan anemia 8, 612563; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS7
Publications for gene RPS7 were changed from to 25946618; 23718193; 27882484; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS29 Louise Daugherty Source Expert Review Green was added to RPS29.
Mode of inheritance for gene RPS29 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 13, 615909 for gene: RPS29
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS28 Louise Daugherty Source Expert Review Amber was added to RPS28.
Mode of inheritance for gene RPS28 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28
Publications for gene RPS28 were changed from to 24942156; 20301769
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 RPS27 Louise Daugherty Source Expert Review Green was added to RPS27.
Mode of inheritance for gene RPS27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27
Publications for gene RPS27 were changed from to 23718193; 25424902
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS26 Louise Daugherty Source Expert Review Green was added to RPS26.
Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS26
Publications for gene RPS26 were changed from to 24675553; 25946618; 24942156; 20116044
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS24 Louise Daugherty Source Expert Review Green was added to RPS24.
Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia 3; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond-blackfan anemia 3, 610629; Diamond Blackfan anemia for gene: RPS24
Publications for gene RPS24 were changed from to 17186470; 19689926; 19773262; 25946618; 8647458; 2210388
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS19 Louise Daugherty Source Expert Review Green was added to RPS19.
Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS19
Publications for gene RPS19 were changed from to 25946618; 24675553; 15384984; 9988267
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS17 Louise Daugherty Source Expert Review Green was added to RPS17.
Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
Publications for gene RPS17 were changed from to 22045982; 19953637; 17647292; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPS10 Louise Daugherty Source Expert Review Green was added to RPS10.
Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; DIAMOND-BLACKFAN ANEMIA 9; Diamond Blackfan anemia for gene: RPS10
Publications for gene RPS10 were changed from to 25946618; 20116044; 23718193
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL9 Louise Daugherty Source Expert Review Green was added to RPL9.
Mode of inheritance for gene RPL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia for gene: RPL9
Publications for gene RPL9 were changed from to 23718193; 20116044
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL5 Louise Daugherty Source Expert Review Green was added to RPL5.
Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5
Publications for gene RPL5 were changed from to 25946618; 19191325; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL35A Louise Daugherty Source Expert Review Green was added to RPL35A.
Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia for gene: RPL35A
Publications for gene RPL35A were changed from to 25946618; 18535205
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL31 Louise Daugherty Source Expert Review Green was added to RPL31.
Mode of inheritance for gene RPL31 was changed from to Unknown
Publications for gene RPL31 were changed from to 25424902; 25042156
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL27 Louise Daugherty Source Expert Review Green was added to RPL27.
Mode of inheritance for gene RPL27 was changed from to Unknown
Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408 for gene: RPL27
Publications for gene RPL27 were changed from to 25424902
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL26 Louise Daugherty Source Expert Review Green was added to RPL26.
Mode of inheritance for gene RPL26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Diamond-Blackfan anemia 11, 614900 for gene: RPL26
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL18 Louise Daugherty Source Expert Review Amber was added to RPL18.
Mode of inheritance for gene RPL18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anaemia for gene: RPL18
Publications for gene RPL18 were changed from to 28280134
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 RPL15 Louise Daugherty Source Expert Review Green was added to RPL15.
Mode of inheritance for gene RPL15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15
Publications for gene RPL15 were changed from to 23812780; 19438500
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RPL11 Louise Daugherty Source Expert Review Green was added to RPL11.
Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL11
Publications for gene RPL11 were changed from to 19191325; 19061985
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 RHAG Louise Daugherty Source Expert Review Green was added to RHAG.
Mode of inheritance for gene RHAG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Stomatocytosis for gene: RHAG
Publications for gene RHAG were changed from to 3920829; 21849667; 9716608; 9746795; 2917122; 8563755; 9454778
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 PUS1 Louise Daugherty Source Expert Review Amber was added to PUS1.
Mode of inheritance for gene PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 for gene: PUS1
Publications for gene PUS1 were changed from to 25227147; 17056637; 15108122
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 PKLR Louise Daugherty Source Expert Review Green was added to PKLR.
Mode of inheritance for gene PKLR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; Enzyme Disorder for gene: PKLR
Publications for gene PKLR were changed from to 8616073; 1896471; 15982340; 8664896; 18420493; 15953013; 1549130; 8579052
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 PIEZO1 Louise Daugherty Source Expert Review Green was added to PIEZO1.
Mode of inheritance for gene PIEZO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hereditary xerocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Dehydrated hereditary stomatocytosis for gene: PIEZO1
Publications for gene PIEZO1 were changed from to 22529292; 23973043; 23695678; 23479567; 16898969; 23581886
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 PFKM Louise Daugherty Source Expert Review Green was added to PFKM.
Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
Publications for gene PFKM were changed from to 7479776; 7513946; 8889589
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 NT5C3A Louise Daugherty Source Expert Review Green was added to NT5C3A.
Mode of inheritance for gene NT5C3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 for gene: NT5C3A
Publications for gene NT5C3A were changed from to 12714505; 12930399; 11369620
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 NDUFB11 Louise Daugherty Source Expert Review Amber was added to NDUFB11.
Added phenotypes sideroblastic anaemia for gene: NDUFB11
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 MTRR Louise Daugherty Source Expert Review Amber was added to MTRR.
Mode of inheritance for gene MTRR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
Publications for gene MTRR were changed from to 12555939; 15714522; 9501215
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 MTR Louise Daugherty Source Expert Review Amber was added to MTR.
Mode of inheritance for gene MTR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 LPIN2 Louise Daugherty Source Expert Review Green was added to LPIN2.
Mode of inheritance for gene LPIN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Majeed syndrome, 609628; CDA; Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2
Publications for gene LPIN2 were changed from to 11795677; 17330256; 2809904; 10969284; 23087183
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 LARS2 Louise Daugherty Source Expert Review Amber was added to LARS2.
Added phenotypes hydrops/sideroblastic anaemia for gene: LARS2
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 KLF1 Louise Daugherty Source Expert Review Green was added to KLF1.
Mode of inheritance for gene KLF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
Publications for gene KLF1 were changed from to 21055716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 KIF23 Louise Daugherty Source Expert Review Green was added to KIF23.
Mode of inheritance for gene KIF23 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23
Publications for gene KIF23 were changed from to 7711721; 7323912; 23570799
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 KCNN4 Louise Daugherty Source Expert Review Green was added to KCNN4.
Mode of inheritance for gene KCNN4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hereditary Xerocytosis for gene: KCNN4
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HSPA9 Louise Daugherty Source Expert Review Green was added to HSPA9.
Added phenotypes sideroblastic anaemia for gene: HSPA9
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HK1 Louise Daugherty Source Expert Review Green was added to HK1.
Mode of inheritance for gene HK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to hexokinase deficiency, 235700; Enzyme Disorder for gene: HK1
Publications for gene HK1 were changed from to 12393545; 7655856
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HBG2 Louise Daugherty Source Expert Review Green was added to HBG2.
Mode of inheritance for gene HBG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749; Globin Disorder for gene: HBG2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HBG1 Louise Daugherty Source Expert Review Green was added to HBG1.
Mode of inheritance for gene HBG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fetal hemoglobin quantitative trait locus 1, 141749; Globin Disorder for gene: HBG1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HBD Louise Daugherty Source Expert Review Green was added to HBD.
Mode of inheritance for gene HBD was changed from to Unknown
Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta for gene: HBD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HBB Louise Daugherty Source Expert Review Green was added to HBB.
Mode of inheritance for gene HBB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749 for gene: HBB
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HBA2 Louise Daugherty Source Expert Review Green was added to HBA2.
Mode of inheritance for gene HBA2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hypochromic microcytic anemia; Heinz body anemia,140700; Globin Disorder; Erythrocytosis; Thalassemia, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978 for gene: HBA2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 HBA1 Louise Daugherty Source Expert Review Green was added to HBA1.
Mode of inheritance for gene HBA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 GSS Louise Daugherty Source Expert Review Green was added to GSS.
Mode of inheritance for gene GSS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder for gene: GSS
Publications for gene GSS were changed from to 16435214; 8896573; 10450861; 11167850
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 GSR Louise Daugherty Source Expert Review Green was added to GSR.
Mode of inheritance for gene GSR was changed from to Unknown
Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR
Publications for gene GSR were changed from to 8533822
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 GPI Louise Daugherty Source Expert Review Green was added to GPI.
Mode of inheritance for gene GPI was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI
Publications for gene GPI were changed from to 4076245; 9856489; 8499925; 8417789
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 GLRX5 Louise Daugherty Source Expert Review Green was added to GLRX5.
Mode of inheritance for gene GLRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 for gene: GLRX5
Publications for gene GLRX5 were changed from to 20364084; 25342667; 17485548
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 GCLC Louise Daugherty Source Expert Review Green was added to GCLC.
Mode of inheritance for gene GCLC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency; Enzyme Disorder for gene: GCLC
Publications for gene GCLC were changed from to 8634459; 10515893; 12663448; 18024385; 10733484
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 GATA1 Louise Daugherty Source Expert Review Green was added to GATA1.
Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
Publications for gene GATA1 were changed from to 22706301; 24952648; 24766296; 10700180; 24453067
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 G6PD Louise Daugherty Source Expert Review Green was added to G6PD.
Mode of inheritance for gene G6PD was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Hemolytic anemia due to G6PD deficiency, 300908; Enzyme Disorder for gene: G6PD
Publications for gene G6PD were changed from to 1999409
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 EPB42 Louise Daugherty Source Expert Review Green was added to EPB42.
Mode of inheritance for gene EPB42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes EPB42-related hereditary spherocytosis; Spherocytosis, Recessive; Elliptocytosis; Minkowski-Chauffard disease; RBC membrane abnormality; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690 for gene: EPB42
Publications for gene EPB42 were changed from to 15071790; 7772513; 7803799; 2386772; 1558976
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 EPB41 Louise Daugherty Source Expert Review Green was added to EPB41.
Mode of inheritance for gene EPB41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Elliptocytosis; Hereditary elliptocytosis; Elliptocytosis-1,611804; RBC membrane abnormality for gene: EPB41
Publications for gene EPB41 were changed from to 1430200; 3755799; 3134067
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 DHFR Louise Daugherty Source Expert Review Amber was added to DHFR.
Mode of inheritance for gene DHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
Publications for gene DHFR were changed from to 21310277
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 CYB5R3 Louise Daugherty Source Expert Review Green was added to CYB5R3.
Added phenotypes Methaemoglobinaemia for gene: CYB5R3
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 CUBN Louise Daugherty Source Expert Review Amber was added to CUBN.
Mode of inheritance for gene CUBN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia for gene: CUBN
Publications for gene CUBN were changed from to 15024727
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 COX4I2 Louise Daugherty Source Expert Review Amber was added to COX4I2.
Mode of inheritance for gene COX4I2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis for gene: COX4I2
Publications for gene COX4I2 were changed from to 19268275
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 CDAN1 Louise Daugherty Source Expert Review Green was added to CDAN1.
Mode of inheritance for gene CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Publications for gene CDAN1 were changed from to 12434312
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 C15orf41 Louise Daugherty Source Expert Review Green was added to C15orf41.
Mode of inheritance for gene C15orf41 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Publications for gene C15orf41 were changed from to 9220189; 16643452; 23716552
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 ANK1 Louise Daugherty Source Expert Review Green was added to ANK1.
Mode of inheritance for gene ANK1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes RBC membrane abnormality; Spherocytosis, type 1,182900 for gene: ANK1
Publications for gene ANK1 were changed from to 1832935; 17327413; 8640229
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 AMN Louise Daugherty Source Expert Review Amber was added to AMN.
Mode of inheritance for gene AMN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN
Publications for gene AMN were changed from to 15024727
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 ALDOA Louise Daugherty Source Expert Review Green was added to ALDOA.
Mode of inheritance for gene ALDOA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aldolase A deficiency; Glycogen storage disease XII, 611881; Glycogen storage disease; Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder for gene: ALDOA
Publications for gene ALDOA were changed from to 8598869; 2825199; 14615364
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 ALAS2 Louise Daugherty Source Expert Review Green was added to ALAS2.
Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Anemia, sideroblastic, 1 300751 for gene: ALAS2
Publications for gene ALAS2 were changed from to 10029606
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 AK1 Louise Daugherty Source Expert Review Amber was added to AK1.
Mode of inheritance for gene AK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.3 ADA2 Louise Daugherty Source Expert Review Green was added to ADA2.
Added phenotypes Diamond Blackfan anaemia for gene: ADA2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 ABCG8 Louise Daugherty Source Expert Review Green was added to ABCG8.
Added phenotypes sitosterolaemia for gene: ABCG8
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 ABCG5 Louise Daugherty Source Expert Review Green was added to ABCG5.
Added phenotypes sitosterolaemia for gene: ABCG5
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.3 ABCB7 Louise Daugherty Source Expert Review Green was added to ABCB7.
Mode of inheritance for gene ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
Publications for gene ABCB7 were changed from to 10196363; 11050011; 11843825; 24255920; 20408841; 22398176
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.2 YARS2 Louise Daugherty gene: YARS2 was added
gene: YARS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: YARS2 was set to
Rare anaemia v0.2 TSR2 Louise Daugherty gene: TSR2 was added
gene: TSR2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TSR2 was set to
Rare anaemia v0.2 TRNT1 Louise Daugherty gene: TRNT1 was added
gene: TRNT1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TRNT1 was set to
Rare anaemia v0.2 TPI1 Louise Daugherty gene: TPI1 was added
gene: TPI1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TPI1 was set to
Rare anaemia v0.2 TMPRSS6 Louise Daugherty gene: TMPRSS6 was added
gene: TMPRSS6 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TMPRSS6 was set to
Rare anaemia v0.2 TF Louise Daugherty gene: TF was added
gene: TF was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TF was set to
Rare anaemia v0.2 TCN2 Louise Daugherty gene: TCN2 was added
gene: TCN2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TCN2 was set to
Rare anaemia v0.2 STEAP3 Louise Daugherty gene: STEAP3 was added
gene: STEAP3 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STEAP3 was set to
Rare anaemia v0.2 SPTB Louise Daugherty gene: SPTB was added
gene: SPTB was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SPTB was set to
Rare anaemia v0.2 SPTA1 Louise Daugherty gene: SPTA1 was added
gene: SPTA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SPTA1 was set to
Rare anaemia v0.2 SLC4A1 Louise Daugherty gene: SLC4A1 was added
gene: SLC4A1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC4A1 was set to
Rare anaemia v0.2 SLC2A1 Louise Daugherty gene: SLC2A1 was added
gene: SLC2A1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC2A1 was set to
Rare anaemia v0.2 SLC25A38 Louise Daugherty gene: SLC25A38 was added
gene: SLC25A38 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC25A38 was set to
Rare anaemia v0.2 SLC19A2 Louise Daugherty gene: SLC19A2 was added
gene: SLC19A2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC19A2 was set to
Rare anaemia v0.2 SLC11A2 Louise Daugherty gene: SLC11A2 was added
gene: SLC11A2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC11A2 was set to
Rare anaemia v0.2 SEC23B Louise Daugherty gene: SEC23B was added
gene: SEC23B was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SEC23B was set to
Rare anaemia v0.2 SBDS Louise Daugherty gene: SBDS was added
gene: SBDS was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SBDS was set to
Rare anaemia v0.2 RPS7 Louise Daugherty gene: RPS7 was added
gene: RPS7 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS7 was set to
Rare anaemia v0.2 RPS29 Louise Daugherty gene: RPS29 was added
gene: RPS29 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS29 was set to
Rare anaemia v0.2 RPS28 Louise Daugherty gene: RPS28 was added
gene: RPS28 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS28 was set to
Rare anaemia v0.2 RPS27 Louise Daugherty gene: RPS27 was added
gene: RPS27 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS27 was set to
Rare anaemia v0.2 RPS26 Louise Daugherty gene: RPS26 was added
gene: RPS26 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS26 was set to
Rare anaemia v0.2 RPS24 Louise Daugherty gene: RPS24 was added
gene: RPS24 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS24 was set to
Rare anaemia v0.2 RPS19 Louise Daugherty gene: RPS19 was added
gene: RPS19 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS19 was set to
Rare anaemia v0.2 RPS17 Louise Daugherty gene: RPS17 was added
gene: RPS17 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS17 was set to
Rare anaemia v0.2 RPS10 Louise Daugherty gene: RPS10 was added
gene: RPS10 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPS10 was set to
Rare anaemia v0.2 RPL9 Louise Daugherty gene: RPL9 was added
gene: RPL9 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL9 was set to
Rare anaemia v0.2 RPL5 Louise Daugherty gene: RPL5 was added
gene: RPL5 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL5 was set to
Rare anaemia v0.2 RPL35A Louise Daugherty gene: RPL35A was added
gene: RPL35A was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL35A was set to
Rare anaemia v0.2 RPL31 Louise Daugherty gene: RPL31 was added
gene: RPL31 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL31 was set to
Rare anaemia v0.2 RPL27 Louise Daugherty gene: RPL27 was added
gene: RPL27 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL27 was set to
Rare anaemia v0.2 RPL26 Louise Daugherty gene: RPL26 was added
gene: RPL26 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL26 was set to
Rare anaemia v0.2 RPL18 Louise Daugherty gene: RPL18 was added
gene: RPL18 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL18 was set to
Rare anaemia v0.2 RPL15 Louise Daugherty gene: RPL15 was added
gene: RPL15 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL15 was set to
Rare anaemia v0.2 RPL11 Louise Daugherty gene: RPL11 was added
gene: RPL11 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL11 was set to
Rare anaemia v0.2 RHAG Louise Daugherty gene: RHAG was added
gene: RHAG was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RHAG was set to
Rare anaemia v0.2 PUS1 Louise Daugherty gene: PUS1 was added
gene: PUS1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PUS1 was set to
Rare anaemia v0.2 PKLR Louise Daugherty gene: PKLR was added
gene: PKLR was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PKLR was set to
Rare anaemia v0.2 PIEZO1 Louise Daugherty gene: PIEZO1 was added
gene: PIEZO1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PIEZO1 was set to
Rare anaemia v0.2 PFKM Louise Daugherty gene: PFKM was added
gene: PFKM was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PFKM was set to
Rare anaemia v0.2 NT5C3A Louise Daugherty gene: NT5C3A was added
gene: NT5C3A was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NT5C3A was set to
Rare anaemia v0.2 NDUFB11 Louise Daugherty gene: NDUFB11 was added
gene: NDUFB11 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NDUFB11 was set to
Rare anaemia v0.2 MTRR Louise Daugherty gene: MTRR was added
gene: MTRR was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MTRR was set to
Rare anaemia v0.2 MTR Louise Daugherty gene: MTR was added
gene: MTR was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MTR was set to
Rare anaemia v0.2 LPIN2 Louise Daugherty gene: LPIN2 was added
gene: LPIN2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LPIN2 was set to
Rare anaemia v0.2 LARS2 Louise Daugherty gene: LARS2 was added
gene: LARS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LARS2 was set to
Rare anaemia v0.2 KLF1 Louise Daugherty gene: KLF1 was added
gene: KLF1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KLF1 was set to
Rare anaemia v0.2 KIF23 Louise Daugherty gene: KIF23 was added
gene: KIF23 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KIF23 was set to
Rare anaemia v0.2 KCNN4 Louise Daugherty gene: KCNN4 was added
gene: KCNN4 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KCNN4 was set to
Rare anaemia v0.2 HSPA9 Louise Daugherty gene: HSPA9 was added
gene: HSPA9 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HSPA9 was set to
Rare anaemia v0.2 HK1 Louise Daugherty gene: HK1 was added
gene: HK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HK1 was set to
Rare anaemia v0.2 HBG2 Louise Daugherty gene: HBG2 was added
gene: HBG2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HBG2 was set to
Rare anaemia v0.2 HBG1 Louise Daugherty gene: HBG1 was added
gene: HBG1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HBG1 was set to
Rare anaemia v0.2 HBD Louise Daugherty gene: HBD was added
gene: HBD was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HBD was set to
Rare anaemia v0.2 HBB Louise Daugherty gene: HBB was added
gene: HBB was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HBB was set to
Rare anaemia v0.2 HBA2 Louise Daugherty gene: HBA2 was added
gene: HBA2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HBA2 was set to
Rare anaemia v0.2 HBA1 Louise Daugherty gene: HBA1 was added
gene: HBA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HBA1 was set to
Rare anaemia v0.2 GSS Louise Daugherty gene: GSS was added
gene: GSS was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GSS was set to
Rare anaemia v0.2 GSR Louise Daugherty gene: GSR was added
gene: GSR was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GSR was set to
Rare anaemia v0.2 GPI Louise Daugherty gene: GPI was added
gene: GPI was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GPI was set to
Rare anaemia v0.2 GLRX5 Louise Daugherty gene: GLRX5 was added
gene: GLRX5 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GLRX5 was set to
Rare anaemia v0.2 GCLC Louise Daugherty gene: GCLC was added
gene: GCLC was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GCLC was set to
Rare anaemia v0.2 GATA1 Louise Daugherty gene: GATA1 was added
gene: GATA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GATA1 was set to
Rare anaemia v0.2 G6PD Louise Daugherty gene: G6PD was added
gene: G6PD was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: G6PD was set to
Rare anaemia v0.2 EPB42 Louise Daugherty gene: EPB42 was added
gene: EPB42 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: EPB42 was set to
Rare anaemia v0.2 EPB41 Louise Daugherty gene: EPB41 was added
gene: EPB41 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: EPB41 was set to
Rare anaemia v0.2 DHFR Louise Daugherty gene: DHFR was added
gene: DHFR was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DHFR was set to
Rare anaemia v0.2 CYB5R3 Louise Daugherty gene: CYB5R3 was added
gene: CYB5R3 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CYB5R3 was set to
Rare anaemia v0.2 CUBN Louise Daugherty gene: CUBN was added
gene: CUBN was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CUBN was set to
Rare anaemia v0.2 COX4I2 Louise Daugherty gene: COX4I2 was added
gene: COX4I2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COX4I2 was set to
Rare anaemia v0.2 CDAN1 Louise Daugherty gene: CDAN1 was added
gene: CDAN1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CDAN1 was set to
Rare anaemia v0.2 C15orf41 Louise Daugherty gene: C15orf41 was added
gene: C15orf41 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: C15orf41 was set to
Rare anaemia v0.2 ANK1 Louise Daugherty gene: ANK1 was added
gene: ANK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ANK1 was set to
Rare anaemia v0.2 AMN Louise Daugherty gene: AMN was added
gene: AMN was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: AMN was set to
Rare anaemia v0.2 ALDOA Louise Daugherty gene: ALDOA was added
gene: ALDOA was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ALDOA was set to
Rare anaemia v0.2 ALAS2 Louise Daugherty gene: ALAS2 was added
gene: ALAS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ALAS2 was set to
Rare anaemia v0.2 AK1 Louise Daugherty gene: AK1 was added
gene: AK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: AK1 was set to
Rare anaemia v0.2 ADA2 Louise Daugherty gene: ADA2 was added
gene: ADA2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ADA2 was set to
Rare anaemia v0.2 ABCG8 Louise Daugherty gene: ABCG8 was added
gene: ABCG8 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ABCG8 was set to
Rare anaemia v0.2 ABCG5 Louise Daugherty gene: ABCG5 was added
gene: ABCG5 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ABCG5 was set to
Rare anaemia v0.2 ABCB7 Louise Daugherty gene: ABCB7 was added
gene: ABCB7 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ABCB7 was set to
Thrombophilia with a likely monogenic cause v0.7 ADAMTS13 Louise Daugherty Source Wessex and West Midlands GLH was added to ADAMTS13.
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 TP53 Louise Daugherty reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 TERT Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 TERC Louise Daugherty reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 SRP72 Louise Daugherty reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 RUNX1 Louise Daugherty reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 GATA2 Louise Daugherty reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 ETV6 Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 DDX41 Louise Daugherty reviewed gene: DDX41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 CHEK2 Louise Daugherty reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 CEBPA Louise Daugherty reviewed gene: CEBPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.6 ANKRD26 Louise Daugherty reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 TP53 Carl Fratter reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 TERT Carl Fratter reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 TERC Carl Fratter reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 SRP72 Carl Fratter reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 RUNX1 Carl Fratter reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 GATA2 Carl Fratter reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 ETV6 Carl Fratter reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 DDX41 Carl Fratter reviewed gene: DDX41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 CHEK2 Carl Fratter reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 CEBPA Carl Fratter reviewed gene: CEBPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.5 ANKRD26 Carl Fratter reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 TP53 Louise Daugherty Source NHS GMS was added to TP53.
Added phenotypes 151623 (OMIM phenotype description ID) for gene: TP53
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 TERT Louise Daugherty Source NHS GMS was added to TERT.
Added phenotypes 187270 (OMIN gene description ID) for gene: TERT
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 TERC Louise Daugherty Source NHS GMS was added to TERC.
Added phenotypes 127550 (OMIM phenotype description ID) for gene: TERC
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 SRP72 Louise Daugherty Source NHS GMS was added to SRP72.
Added phenotypes 602122 (OMIN gene description ID) for gene: SRP72
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 RUNX1 Louise Daugherty Source NHS GMS was added to RUNX1.
Added phenotypes 601399 (OMIM phenotype description ID) for gene: RUNX1
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 GATA2 Louise Daugherty Source NHS GMS was added to GATA2.
Added phenotypes 137295 (OMIN gene description ID) for gene: GATA2
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 ETV6 Louise Daugherty Source NHS GMS was added to ETV6.
Added phenotypes 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID) for gene: ETV6
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 DDX41 Louise Daugherty Source NHS GMS was added to DDX41.
Added phenotypes 616871 (OMIM phenotype description ID) for gene: DDX41
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 CHEK2 Louise Daugherty Source NHS GMS was added to CHEK2.
Added phenotypes 609265 (OMIM phenotype description ID) for gene: CHEK2
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 CEBPA Louise Daugherty Source NHS GMS was added to CEBPA.
Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA
Inherited predisposition to acute myeloid leukaemia (AML) v0.4 ANKRD26 Louise Daugherty Source NHS GMS was added to ANKRD26.
Added phenotypes 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) for gene: ANKRD26
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 TP53 Louise Daugherty Source Expert Review Amber was added to TP53.
Mode of inheritance for gene TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 151623 (OMIM phenotype description ID) for gene: TP53
Publications for gene TP53 were changed from to 28600339
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 TERT Louise Daugherty Source Expert Review Amber was added to TERT.
Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 187270 (OMIN gene description ID) for gene: TERT
Publications for gene TERT were changed from to 23926458; 28600339
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 TERC Louise Daugherty Source Expert Review Amber was added to TERC.
Mode of inheritance for gene TERC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 127550 (OMIM phenotype description ID) for gene: TERC
Publications for gene TERC were changed from to 23926458; 28600339
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 SRP72 Louise Daugherty Source Expert Review Amber was added to SRP72.
Mode of inheritance for gene SRP72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 602122 (OMIN gene description ID) for gene: SRP72
Publications for gene SRP72 were changed from to 23926458; 28600339
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 RUNX1 Louise Daugherty Source Expert Review Amber was added to RUNX1.
Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 601399 (OMIM phenotype description ID) for gene: RUNX1
Publications for gene RUNX1 were changed from to 19357396; 23926458; 11830488
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 GATA2 Louise Daugherty Source Expert Review Amber was added to GATA2.
Mode of inheritance for gene GATA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 137295 (OMIN gene description ID) for gene: GATA2
Publications for gene GATA2 were changed from to 23926458; 28600339
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 ETV6 Louise Daugherty Source Expert Review Amber was added to ETV6.
Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID) for gene: ETV6
Publications for gene ETV6 were changed from to 28600339
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 DDX41 Louise Daugherty Source Expert Review Amber was added to DDX41.
Mode of inheritance for gene DDX41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616871 (OMIM phenotype description ID) for gene: DDX41
Publications for gene DDX41 were changed from to 25920683; 26712909
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 CHEK2 Louise Daugherty Source Expert Review Amber was added to CHEK2.
Mode of inheritance for gene CHEK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 609265 (OMIM phenotype description ID) for gene: CHEK2
Publications for gene CHEK2 were changed from to 29902706
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 CEBPA Louise Daugherty Source Expert Review Amber was added to CEBPA.
Mode of inheritance for gene CEBPA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA
Publications for gene CEBPA were changed from to 15575056; 23926458
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.3 ANKRD26 Louise Daugherty Source Expert Review Amber was added to ANKRD26.
Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) for gene: ANKRD26
Publications for gene ANKRD26 were changed from to 23926458
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 TP53 Louise Daugherty gene: TP53 was added
gene: TP53 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TP53 was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 TERT Louise Daugherty gene: TERT was added
gene: TERT was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TERT was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 TERC Louise Daugherty gene: TERC was added
gene: TERC was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TERC was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 SRP72 Louise Daugherty gene: SRP72 was added
gene: SRP72 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SRP72 was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 RUNX1 Louise Daugherty gene: RUNX1 was added
gene: RUNX1 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RUNX1 was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 GATA2 Louise Daugherty gene: GATA2 was added
gene: GATA2 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GATA2 was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 ETV6 Louise Daugherty gene: ETV6 was added
gene: ETV6 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ETV6 was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 DDX41 Louise Daugherty gene: DDX41 was added
gene: DDX41 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DDX41 was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 CHEK2 Louise Daugherty gene: CHEK2 was added
gene: CHEK2 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CHEK2 was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 CEBPA Louise Daugherty gene: CEBPA was added
gene: CEBPA was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CEBPA was set to
Inherited predisposition to acute myeloid leukaemia (AML) v0.2 ANKRD26 Louise Daugherty gene: ANKRD26 was added
gene: ANKRD26 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ANKRD26 was set to
Thrombophilia with a likely monogenic cause v0.6 THBD Louise Daugherty reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 SERPINE1 Louise Daugherty reviewed gene: SERPINE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 SERPIND1 Louise Daugherty reviewed gene: SERPIND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 SERPINC1 Louise Daugherty reviewed gene: SERPINC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 PROS1 Louise Daugherty reviewed gene: PROS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 PROC Louise Daugherty reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 PLG Louise Daugherty reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 PIGA Louise Daugherty reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 HRG Louise Daugherty reviewed gene: HRG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 FGG Louise Daugherty reviewed gene: FGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 FGB Louise Daugherty reviewed gene: FGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 FGA Louise Daugherty reviewed gene: FGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 F5 Louise Daugherty reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 F2 Louise Daugherty reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.6 ADAMTS13 Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.5 THBD Carl Fratter reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 SERPINE1 Carl Fratter reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.5 SERPIND1 Carl Fratter reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.5 SERPINC1 Carl Fratter reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 PROS1 Carl Fratter reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 PROC Carl Fratter reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 PLG Carl Fratter reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 PIGA Carl Fratter reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.5 HRG Carl Fratter reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 FGG Carl Fratter reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 FGB Carl Fratter reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 FGA Carl Fratter reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 F5 Carl Fratter reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 F2 Carl Fratter reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.5 ADAMTS13 Carl Fratter reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.4 THBD Louise Daugherty Source NHS GMS was added to THBD.
Thrombophilia with a likely monogenic cause v0.4 SERPINE1 Louise Daugherty Source NHS GMS was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.4 SERPIND1 Louise Daugherty Source NHS GMS was added to SERPIND1.
Thrombophilia with a likely monogenic cause v0.4 SERPINC1 Louise Daugherty Source NHS GMS was added to SERPINC1.
Thrombophilia with a likely monogenic cause v0.4 PROS1 Louise Daugherty Source NHS GMS was added to PROS1.
Thrombophilia with a likely monogenic cause v0.4 PROC Louise Daugherty Source NHS GMS was added to PROC.
Thrombophilia with a likely monogenic cause v0.4 PLG Louise Daugherty Source NHS GMS was added to PLG.
Thrombophilia with a likely monogenic cause v0.4 PIGA Louise Daugherty Source NHS GMS was added to PIGA.
Thrombophilia with a likely monogenic cause v0.4 HRG Louise Daugherty Source NHS GMS was added to HRG.
Thrombophilia with a likely monogenic cause v0.4 FGG Louise Daugherty Source NHS GMS was added to FGG.
Thrombophilia with a likely monogenic cause v0.4 FGB Louise Daugherty Source NHS GMS was added to FGB.
Thrombophilia with a likely monogenic cause v0.4 FGA Louise Daugherty Source NHS GMS was added to FGA.
Thrombophilia with a likely monogenic cause v0.4 F5 Louise Daugherty Source NHS GMS was added to F5.
Thrombophilia with a likely monogenic cause v0.4 F2 Louise Daugherty Source NHS GMS was added to F2.
Thrombophilia with a likely monogenic cause v0.4 ADAMTS13 Louise Daugherty Source NHS GMS was added to ADAMTS13.
Thrombophilia with a likely monogenic cause v0.3 THBD Louise Daugherty Source Expert Review Green was added to THBD.
Mode of inheritance for gene THBD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 SERPINE1 Louise Daugherty Source Expert Review Green was added to SERPINE1.
Mode of inheritance for gene SERPINE1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 SERPIND1 Louise Daugherty Source Expert Review Green was added to SERPIND1.
Mode of inheritance for gene SERPIND1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 SERPINC1 Louise Daugherty Source Expert Review Green was added to SERPINC1.
Mode of inheritance for gene SERPINC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 613118 Thrombophilia due to antithrombin III deficiency for gene: SERPINC1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 PROS1 Louise Daugherty Source Expert Review Green was added to PROS1.
Mode of inheritance for gene PROS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 PROC Louise Daugherty Source Expert Review Green was added to PROC.
Mode of inheritance for gene PROC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 PLG Louise Daugherty Source Expert Review Green was added to PLG.
Mode of inheritance for gene PLG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 PIGA Louise Daugherty Source Expert Review Green was added to PIGA.
Mode of inheritance for gene PIGA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300818 Paroxysmal nocturnal hemoglobinuria, somatic for gene: PIGA
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 HRG Louise Daugherty Source Expert Review Green was added to HRG.
Mode of inheritance for gene HRG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 FGG Louise Daugherty Source Expert Review Green was added to FGG.
Mode of inheritance for gene FGG was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital for gene: FGG
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 FGB Louise Daugherty Source Expert Review Green was added to FGB.
Mode of inheritance for gene FGB was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 FGA Louise Daugherty Source Expert Review Green was added to FGA.
Mode of inheritance for gene FGA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital for gene: FGA
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 F5 Louise Daugherty Source Expert Review Green was added to F5.
Mode of inheritance for gene F5 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 F2 Louise Daugherty Source Expert Review Green was added to F2.
Mode of inheritance for gene F2 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.3 ADAMTS13 Louise Daugherty gene: ADAMTS13 was added
gene: ADAMTS13 was added to Thrombophilia. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to 274150 Thrombotic thrombocytopenic purpura, familial
Thrombophilia with a likely monogenic cause v0.2 THBD Louise Daugherty gene: THBD was added
gene: THBD was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: THBD was set to
Thrombophilia with a likely monogenic cause v0.2 SERPINE1 Louise Daugherty gene: SERPINE1 was added
gene: SERPINE1 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPINE1 was set to
Thrombophilia with a likely monogenic cause v0.2 SERPIND1 Louise Daugherty gene: SERPIND1 was added
gene: SERPIND1 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPIND1 was set to
Thrombophilia with a likely monogenic cause v0.2 SERPINC1 Louise Daugherty gene: SERPINC1 was added
gene: SERPINC1 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPINC1 was set to
Thrombophilia with a likely monogenic cause v0.2 PROS1 Louise Daugherty gene: PROS1 was added
gene: PROS1 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PROS1 was set to
Thrombophilia with a likely monogenic cause v0.2 PROC Louise Daugherty gene: PROC was added
gene: PROC was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PROC was set to
Thrombophilia with a likely monogenic cause v0.2 PLG Louise Daugherty gene: PLG was added
gene: PLG was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PLG was set to
Thrombophilia with a likely monogenic cause v0.2 PIGA Louise Daugherty gene: PIGA was added
gene: PIGA was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PIGA was set to
Thrombophilia with a likely monogenic cause v0.2 HRG Louise Daugherty gene: HRG was added
gene: HRG was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HRG was set to
Thrombophilia with a likely monogenic cause v0.2 FGG Louise Daugherty gene: FGG was added
gene: FGG was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGG was set to
Thrombophilia with a likely monogenic cause v0.2 FGB Louise Daugherty gene: FGB was added
gene: FGB was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGB was set to
Thrombophilia with a likely monogenic cause v0.2 FGA Louise Daugherty gene: FGA was added
gene: FGA was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGA was set to
Thrombophilia with a likely monogenic cause v0.2 F5 Louise Daugherty gene: F5 was added
gene: F5 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F5 was set to
Thrombophilia with a likely monogenic cause v0.2 F2 Louise Daugherty gene: F2 was added
gene: F2 was added to Thrombophilia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.6 TMPRSS6 Louise Daugherty reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 TFR2 Louise Daugherty reviewed gene: TFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 TF Louise Daugherty reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 STEAP3 Louise Daugherty reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SLC40A1 Louise Daugherty reviewed gene: SLC40A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SLC25A38 Louise Daugherty reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SLC11A2 Louise Daugherty reviewed gene: SLC11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SERPINC1 Louise Daugherty reviewed gene: SERPINC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE2 Louise Daugherty reviewed gene: HFE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HEPH Louise Daugherty reviewed gene: HEPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HAMP Louise Daugherty reviewed gene: HAMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 GLRX5 Louise Daugherty reviewed gene: GLRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 FTH1 Louise Daugherty reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 FECH Louise Daugherty reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 CYBRD1 Louise Daugherty reviewed gene: CYBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 BMP6 Louise Daugherty reviewed gene: BMP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ACVR1 Louise Daugherty reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 TMPRSS6 Carl Fratter reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 TFR2 Carl Fratter reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 TF Carl Fratter reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 STEAP3 Carl Fratter reviewed gene: STEAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 SLC40A1 Carl Fratter reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 SLC25A38 Carl Fratter reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 SLC11A2 Carl Fratter reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 SERPINC1 Carl Fratter reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 HFE2 Carl Fratter reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 HFE Carl Fratter reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 HEPH Carl Fratter reviewed gene: HEPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 HAMP Carl Fratter reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 GLRX5 Carl Fratter reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 GBA Carl Fratter reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 FTL Carl Fratter reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 FTH1 Carl Fratter reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 FECH Carl Fratter reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 CYBRD1 Carl Fratter reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 CP Carl Fratter reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 BMP6 Carl Fratter reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 ATP7B Carl Fratter reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 ALAS2 Carl Fratter reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 ACVR1 Carl Fratter reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 ABCB7 Carl Fratter reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.4 TMPRSS6 Louise Daugherty Source NHS GMS was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.4 TFR2 Louise Daugherty Source NHS GMS was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.4 TF Louise Daugherty Source NHS GMS was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.4 STEAP3 Louise Daugherty Source NHS GMS was added to STEAP3.
Iron metabolism disorders - NOT common HFE mutations v0.4 SLC40A1 Louise Daugherty Source NHS GMS was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.4 SLC25A38 Louise Daugherty Source NHS GMS was added to SLC25A38.
Iron metabolism disorders - NOT common HFE mutations v0.4 SLC11A2 Louise Daugherty Source NHS GMS was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.4 SERPINC1 Louise Daugherty Source NHS GMS was added to SERPINC1.
Iron metabolism disorders - NOT common HFE mutations v0.4 HFE2 Louise Daugherty Source NHS GMS was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.4 HFE Louise Daugherty Source NHS GMS was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.4 HEPH Louise Daugherty Source NHS GMS was added to HEPH.
Iron metabolism disorders - NOT common HFE mutations v0.4 HAMP Louise Daugherty Source NHS GMS was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.4 GLRX5 Louise Daugherty Source NHS GMS was added to GLRX5.
Iron metabolism disorders - NOT common HFE mutations v0.4 GBA Louise Daugherty Source NHS GMS was added to GBA.
Iron metabolism disorders - NOT common HFE mutations v0.4 FTL Louise Daugherty Source NHS GMS was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.4 FTH1 Louise Daugherty Source NHS GMS was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.4 FECH Louise Daugherty Source NHS GMS was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.4 CYBRD1 Louise Daugherty Source NHS GMS was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.4 CP Louise Daugherty Source NHS GMS was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.4 BMP6 Louise Daugherty Source NHS GMS was added to BMP6.
Iron metabolism disorders - NOT common HFE mutations v0.4 ATP7B Louise Daugherty Source NHS GMS was added to ATP7B.
Iron metabolism disorders - NOT common HFE mutations v0.4 ALAS2 Louise Daugherty Source NHS GMS was added to ALAS2.
Iron metabolism disorders - NOT common HFE mutations v0.4 ACVR1 Louise Daugherty Source NHS GMS was added to ACVR1.
Iron metabolism disorders - NOT common HFE mutations v0.4 ABCB7 Louise Daugherty Source NHS GMS was added to ABCB7.
Iron metabolism disorders - NOT common HFE mutations v0.3 TMPRSS6 Louise Daugherty Source Expert Review Green was added to TMPRSS6.
Mode of inheritance for gene TMPRSS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Publications for gene TMPRSS6 were changed from to 25588876; 28476747; 23729726
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 TFR2 Louise Daugherty Source Expert Review Green was added to TFR2.
Mode of inheritance for gene TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2
Publications for gene TFR2 were changed from to 24055163; 18094142; 26029709
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 TF Louise Daugherty Source Expert Review Green was added to TF.
Mode of inheritance for gene TF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF
Publications for gene TF were changed from to 23888904; 25486930; 11110675
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 STEAP3 Louise Daugherty Source Expert Review Green was added to STEAP3.
Mode of inheritance for gene STEAP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 615234 ?Anemia, hypochromic microcytic, with iron overload 2 for gene: STEAP3
Publications for gene STEAP3 were changed from to 22031863
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 SLC40A1 Louise Daugherty Source Expert Review Green was added to SLC40A1.
Mode of inheritance for gene SLC40A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1
Publications for gene SLC40A1 were changed from to 19846751
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 SLC25A38 Louise Daugherty Source Expert Review Green was added to SLC25A38.
Mode of inheritance for gene SLC25A38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38
Publications for gene SLC25A38 were changed from to 19412178; 24323989; 21393332
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 SLC11A2 Louise Daugherty Source Expert Review Green was added to SLC11A2.
Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia for gene: SLC11A2
Publications for gene SLC11A2 were changed from to 29178181; 21871825
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 SERPINC1 Louise Daugherty Source Expert Review Green was added to SERPINC1.
Mode of inheritance for gene SERPINC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1
Publications for gene SERPINC1 were changed from to 18210110; 27296815
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HFE2 Louise Daugherty Source Expert Review Green was added to HFE2.
Mode of inheritance for gene HFE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2
Publications for gene HFE2 were changed from to 30166352; 14982873; 19342478; 14647275
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HFE Louise Daugherty Source Expert Review Green was added to HFE.
Mode of inheritance for gene HFE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 for gene: HFE
Publications for gene HFE were changed from to 27518069; 18210110; 24266916
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HEPH Louise Daugherty Source Expert Review Green was added to HEPH.
Mode of inheritance for gene HEPH was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HAMP Louise Daugherty Source Expert Review Green was added to HAMP.
Mode of inheritance for gene HAMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP
Publications for gene HAMP were changed from to 22297252; 14630809
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 GLRX5 Louise Daugherty Source Expert Review Green was added to GLRX5.
Mode of inheritance for gene GLRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616860 Anemia, sideroblastic, 3, pyridoxine-refractory for gene: GLRX5
Publications for gene GLRX5 were changed from to 30401706; 24003969; 30098397
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 GBA Louise Daugherty Source Expert Review Green was added to GBA.
Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Publications for gene GBA were changed from to 27265538; 27816428; 20575041
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 FTL Louise Daugherty Source Expert Review Green was added to FTL.
Mode of inheritance for gene FTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL
Publications for gene FTL were changed from to 20511138; 29797321; 12547246; Neuroferritinopathy GeneReviews 2018; 23421845
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 FTH1 Louise Daugherty Source Expert Review Green was added to FTH1.
Mode of inheritance for gene FTH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Publications for gene FTH1 were changed from to 11389486
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 FECH Louise Daugherty Source Expert Review Green was added to FECH.
Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Publications for gene FECH were changed from to 26387792; 20857522; 28614581
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 CYBRD1 Louise Daugherty Source Expert Review Green was added to CYBRD1.
Mode of inheritance for gene CYBRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene CYBRD1 were changed from to 15338274; 27884173
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 CP Louise Daugherty Source Expert Review Green was added to CP.
Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
Publications for gene CP were changed from to 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 BMP6 Louise Daugherty Source Expert Review Green was added to BMP6.
Mode of inheritance for gene BMP6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Iron overload for gene: BMP6
Publications for gene BMP6 were changed from to 28335084; 26582087
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ATP7B Louise Daugherty Source Expert Review Green was added to ATP7B.
Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 277900 WILSON DISEASE for gene: ATP7B
Publications for gene ATP7B were changed from to 24002824; 18210110; 27982432; 24266916; 28433102
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ALAS2 Louise Daugherty Source Expert Review Green was added to ALAS2.
Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1 for gene: ALAS2
Publications for gene ALAS2 were changed from to 30401706; 24003969; 30098397
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ACVR1 Louise Daugherty Source Expert Review Green was added to ACVR1.
Mode of inheritance for gene ACVR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes new type of IRIDA for gene: ACVR1
Publications for gene ACVR1 were changed from to 28476747
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ABCB7 Louise Daugherty Source Expert Review Green was added to ABCB7.
Mode of inheritance for gene ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 301310 Anemia, sideroblastic, with ataxia for gene: ABCB7
Publications for gene ABCB7 were changed from to 30401706; 10196363; 29787825
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.2 TMPRSS6 Louise Daugherty gene: TMPRSS6 was added
gene: TMPRSS6 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TMPRSS6 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 TFR2 Louise Daugherty gene: TFR2 was added
gene: TFR2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TFR2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 TF Louise Daugherty gene: TF was added
gene: TF was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TF was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 STEAP3 Louise Daugherty gene: STEAP3 was added
gene: STEAP3 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STEAP3 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 SLC40A1 Louise Daugherty gene: SLC40A1 was added
gene: SLC40A1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC40A1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 SLC25A38 Louise Daugherty gene: SLC25A38 was added
gene: SLC25A38 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC25A38 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 SLC11A2 Louise Daugherty gene: SLC11A2 was added
gene: SLC11A2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC11A2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 SERPINC1 Louise Daugherty gene: SERPINC1 was added
gene: SERPINC1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPINC1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HFE2 Louise Daugherty gene: HFE2 was added
gene: HFE2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HFE2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HFE Louise Daugherty gene: HFE was added
gene: HFE was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HFE was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HEPH Louise Daugherty gene: HEPH was added
gene: HEPH was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HEPH was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HAMP Louise Daugherty gene: HAMP was added
gene: HAMP was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HAMP was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 GLRX5 Louise Daugherty gene: GLRX5 was added
gene: GLRX5 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GLRX5 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GBA was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 FTL Louise Daugherty gene: FTL was added
gene: FTL was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FTL was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 FTH1 Louise Daugherty gene: FTH1 was added
gene: FTH1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FTH1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 FECH Louise Daugherty gene: FECH was added
gene: FECH was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FECH was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 CYBRD1 Louise Daugherty gene: CYBRD1 was added
gene: CYBRD1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CYBRD1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 CP Louise Daugherty gene: CP was added
gene: CP was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CP was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 BMP6 Louise Daugherty gene: BMP6 was added
gene: BMP6 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BMP6 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ATP7B Louise Daugherty gene: ATP7B was added
gene: ATP7B was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ATP7B was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ALAS2 Louise Daugherty gene: ALAS2 was added
gene: ALAS2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ALAS2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ACVR1 Louise Daugherty gene: ACVR1 was added
gene: ACVR1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ACVR1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ABCB7 Louise Daugherty gene: ABCB7 was added
gene: ABCB7 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ABCB7 was set to
Pancreatitis v1.7 CASR Ivone Leong Phenotypes for gene: CASR were changed from to Pancreatitis
Pancreatitis v1.6 CASR Ivone Leong Publications for gene: CASR were set to 29173301; 17853337; 26166472; 18680227; 20798521; 18938753
Pancreatitis v1.5 CPA1 Ivone Leong Mode of inheritance for gene: CPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intestinal failure or congenital diarrhoea v0.29 SPINT2 Ivone Leong Mode of inheritance for gene: SPINT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.28 SPINT2 Ivone Leong Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.27 SPINT2 Ivone Leong Phenotypes for gene: SPINT2 were changed from to congenital sodium diarrhea; Congenital tufting enteropathy
Intestinal failure or congenital diarrhoea v0.26 SPINT2 Ivone Leong Publications for gene: SPINT2 were set to
Intestinal failure or congenital diarrhoea v0.25 SLC26A3 Ivone Leong Phenotypes for gene: SLC26A3 were changed from to Congenital chloride diarrhea
Intestinal failure or congenital diarrhoea v0.24 SLC26A3 Ivone Leong Mode of inheritance for gene: SLC26A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.23 SLC9A3 Ivone Leong Mode of inheritance for gene: SLC9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.22 SLC9A3 Ivone Leong Phenotypes for gene: SLC9A3 were changed from to Congenital sodium diarrhea
Intestinal failure or congenital diarrhoea v0.21 SLC9A3 Ivone Leong Publications for gene: SLC9A3 were set to
Intestinal failure or congenital diarrhoea v0.20 SLC26A3 Ivone Leong Publications for gene: SLC26A3 were set to
Familial tumoral calcinosis v0.11 SAMD9 Ivone Leong commented on gene: SAMD9: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that SAM9D should remain amber.
Familial tumoral calcinosis v0.11 GALNT3 Ivone Leong commented on gene: GALNT3: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial tumoral calcinosis v0.11 FGF23 Ivone Leong commented on gene: FGF23: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Primary pigmented nodular adrenocortical disease v0.9 ARMC5 Ivone Leong commented on gene: ARMC5: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Primary pigmented nodular adrenocortical disease v0.9 ARMC5 Ivone Leong Publications for gene: ARMC5 were set to
Primary pigmented nodular adrenocortical disease v0.8 ARMC5 Ivone Leong Classified gene: ARMC5 as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.8 ARMC5 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. There are >3 unrelated cases on OMIM related to this gene. This gene has also been included in this panel as suggested by the GMS Endocrinology Specialist Test Group during the webex call on 28th Jan 2019.
Primary pigmented nodular adrenocortical disease v0.8 ARMC5 Ivone Leong Gene: armc5 has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.7 ARMC5 Ivone Leong gene: ARMC5 was added
gene: ARMC5 was added to Primary pigmented nodular adrenocortical disease. Sources: Expert list
Mode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARMC5 were set to ACTH-independent macronodular adrenal hyperplasia 2, 615954
Review for gene: ARMC5 was set to GREEN
Added comment: Sources: Expert list
Primary pigmented nodular adrenocortical disease v0.6 PRKAR1A Ivone Leong commented on gene: PRKAR1A: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Primary pigmented nodular adrenocortical disease v0.6 PDE8B Ivone Leong commented on gene: PDE8B: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Primary pigmented nodular adrenocortical disease v0.6 PDE11A Ivone Leong commented on gene: PDE11A: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hypoparathyroidism v1.10 TBCE Ivone Leong commented on gene: TBCE
Familial hypoparathyroidism v1.10 PTH Ivone Leong commented on gene: PTH
Familial hypoparathyroidism v1.10 GNA11 Ivone Leong commented on gene: GNA11
Familial hypoparathyroidism v1.10 GCM2 Ivone Leong commented on gene: GCM2
Familial hypoparathyroidism v1.10 GATA3 Ivone Leong commented on gene: GATA3
Familial hypoparathyroidism v1.10 CASR Ivone Leong commented on gene: CASR
Familial hypoparathyroidism v1.10 AIRE Ivone Leong commented on gene: AIRE
Lipodystrophy - childhood onset v1.0 LIPE Ivone Leong commented on gene: LIPE: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Lipodystrophy - childhood onset v1.0 ZMPSTE24 Ivone Leong commented on gene: ZMPSTE24
Lipodystrophy - childhood onset v1.0 PPARG Ivone Leong commented on gene: PPARG
Lipodystrophy - childhood onset v1.0 POLD1 Ivone Leong commented on gene: POLD1
Lipodystrophy - childhood onset v1.0 LMNA Ivone Leong commented on gene: LMNA
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong commented on gene: CAVIN1
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong Deleted their review
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong Deleted their comment
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong commented on gene: CAVIN1
Lipodystrophy - childhood onset v1.0 BSCL2 Ivone Leong commented on gene: BSCL2
Lipodystrophy - childhood onset v1.0 AGPAT2 Ivone Leong commented on gene: AGPAT2
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
Bleeding and platelet disorders v0.6 MKL1 Louise Daugherty commented on gene: MKL1: New HGNC approved gene symbol for MKL1 is MRTFA
Bleeding and platelet disorders v0.6 MKL1 Louise Daugherty Tag new-gene-name tag was added to gene: MKL1.
Bleeding and platelet disorders v0.6 WAS Louise Daugherty reviewed gene: WAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VWF Louise Daugherty reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VPS33B Louise Daugherty reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VKORC1 Louise Daugherty reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VIPAS39 Louise Daugherty reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 UNC13D Louise Daugherty reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TUBB1 Louise Daugherty reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TRPM7 Louise Daugherty reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TPM4 Louise Daugherty reviewed gene: TPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 THPO Louise Daugherty reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 THBD Louise Daugherty reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TBXAS1 Louise Daugherty reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TBXA2R Louise Daugherty reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 STXBP2 Louise Daugherty reviewed gene: STXBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 STX11 Louise Daugherty reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SRC Louise Daugherty reviewed gene: SRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SLFN14 Louise Daugherty reviewed gene: SLFN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SLC45A2 Louise Daugherty reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SERPINF2 Louise Daugherty reviewed gene: SERPINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RUNX1 Louise Daugherty reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RNU4ATAC Louise Daugherty reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RGS2 Louise Daugherty reviewed gene: RGS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RBM8A Louise Daugherty reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RASGRP2 Louise Daugherty reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PTPRJ Louise Daugherty reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PTPN11 Louise Daugherty reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PTGS1 Louise Daugherty reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PRKACG Louise Daugherty reviewed gene: PRKACG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PLAU Louise Daugherty reviewed gene: PLAU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PLA2G4A Louise Daugherty reviewed gene: PLA2G4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 P2RY12 Louise Daugherty reviewed gene: P2RY12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 P2RX1 Louise Daugherty reviewed gene: P2RX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 NBEAL2 Louise Daugherty reviewed gene: NBEAL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 NBEA Louise Daugherty reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MYH9 Louise Daugherty reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MKL1 Louise Daugherty reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MPL Louise Daugherty reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MPIG6B Louise Daugherty reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MECOM Louise Daugherty reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MCFD2 Louise Daugherty reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 LMAN1 Louise Daugherty reviewed gene: LMAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 KNG1 Louise Daugherty reviewed gene: KNG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 KLKB1 Louise Daugherty reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 KDSR Louise Daugherty reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ITGB3 Louise Daugherty reviewed gene: ITGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ITGA2B Louise Daugherty reviewed gene: ITGA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ITGA2 Louise Daugherty reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS6 Louise Daugherty reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS5 Louise Daugherty reviewed gene: HPS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS4 Louise Daugherty reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS3 Louise Daugherty reviewed gene: HPS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS1 Louise Daugherty reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HOXA11 Louise Daugherty reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP9 Louise Daugherty reviewed gene: GP9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP6 Louise Daugherty reviewed gene: GP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP1BB Louise Daugherty reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP1BA Louise Daugherty reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GGCX Louise Daugherty reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GFI1B Louise Daugherty reviewed gene: GFI1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GATA1 Louise Daugherty reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GALE Louise Daugherty reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FYB1 Louise Daugherty reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FLNA Louise Daugherty reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FLI1 Louise Daugherty reviewed gene: FLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FGG Louise Daugherty reviewed gene: FGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FGB Louise Daugherty reviewed gene: FGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FGA Louise Daugherty reviewed gene: FGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FERMT3 Louise Daugherty reviewed gene: FERMT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F9 Louise Daugherty reviewed gene: F9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F8 Louise Daugherty reviewed gene: F8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F7 Louise Daugherty reviewed gene: F7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F5 Louise Daugherty reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F2R Louise Daugherty reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F13B Louise Daugherty reviewed gene: F13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F13A1 Louise Daugherty reviewed gene: F13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F12 Louise Daugherty reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F11 Louise Daugherty reviewed gene: F11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F10 Louise Daugherty reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ETV6 Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 EPHB2 Louise Daugherty reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ENG Louise Daugherty reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 DTNBP1 Louise Daugherty reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 DIAPH1 Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 CYCS Louise Daugherty reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 COL5A2 Louise Daugherty reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 COL5A1 Louise Daugherty reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 COL1A1 Louise Daugherty reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 CHST14 Louise Daugherty reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 CDC42 Louise Daugherty reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 BLOC1S6 Louise Daugherty reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 BLOC1S3 Louise Daugherty reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ARPC1B Louise Daugherty reviewed gene: ARPC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 AP3D1 Louise Daugherty reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 AP3B1 Louise Daugherty reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ANO6 Louise Daugherty reviewed gene: ANO6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ANKRD26 Louise Daugherty reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ADAMTS13 Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ACTN1 Louise Daugherty reviewed gene: ACTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ABCG8 Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ABCG5 Louise Daugherty reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.37 AKT2 Ivone Leong Added comment: Comment on mode of pathogenicity: Variants in this gene has an activating effect.
Congenital hyperinsulinism v1.37 AKT2 Ivone Leong Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v0.8 PAX2 Anna de Burca reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22213154, 10533062; Phenotypes: Papillorenal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bleeding and platelet disorders v0.5 WAS Carl Fratter reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VWF Carl Fratter reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VPS33B Carl Fratter reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VKORC1 Carl Fratter reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VIPAS39 Carl Fratter reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 UNC13D Carl Fratter reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 TUBB1 Carl Fratter reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 TRPM7 Carl Fratter reviewed gene: TRPM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 TPM4 Carl Fratter reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 THPO Carl Fratter reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 THBD Carl Fratter reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 TBXAS1 Carl Fratter reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 TBXA2R Carl Fratter reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 STXBP2 Carl Fratter reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 STX11 Carl Fratter reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 STIM1 Carl Fratter reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SRC Carl Fratter reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SMAD4 Carl Fratter reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SLFN14 Carl Fratter reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SLC45A2 Carl Fratter reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 SERPINF2 Carl Fratter reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 RUNX1 Carl Fratter reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 RNU4ATAC Carl Fratter reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 RGS2 Carl Fratter reviewed gene: RGS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 RBM8A Carl Fratter reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 RASGRP2 Carl Fratter reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 PTPRJ Carl Fratter reviewed gene: PTPRJ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 PTPN11 Carl Fratter reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 PTGS1 Carl Fratter reviewed gene: PTGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 PRKACG Carl Fratter reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 PLAU Carl Fratter reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 PLA2G4A Carl Fratter reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 P2RY12 Carl Fratter reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 P2RX1 Carl Fratter reviewed gene: P2RX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 NBEAL2 Carl Fratter reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 NBEA Carl Fratter reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 MYH9 Carl Fratter reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 MKL1 Carl Fratter reviewed gene: MKL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 MPL Carl Fratter reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 MPIG6B Carl Fratter reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 MECOM Carl Fratter reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 MCFD2 Carl Fratter reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 LYST Carl Fratter reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 LMAN1 Carl Fratter reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 KNG1 Carl Fratter reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 KLKB1 Carl Fratter reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 KDSR Carl Fratter reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 ITGB3 Carl Fratter reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ITGA2B Carl Fratter reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ITGA2 Carl Fratter reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS6 Carl Fratter reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS5 Carl Fratter reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS4 Carl Fratter reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS3 Carl Fratter reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS1 Carl Fratter reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HOXA11 Carl Fratter reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP9 Carl Fratter reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP6 Carl Fratter reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP1BB Carl Fratter reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP1BA Carl Fratter reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GNE Carl Fratter reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 GGCX Carl Fratter reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GFI1B Carl Fratter reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GBA Carl Fratter reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GATA1 Carl Fratter reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GALE Carl Fratter reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 FYB1 Carl Fratter reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FLNA Carl Fratter reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FLI1 Carl Fratter reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FGG Carl Fratter reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FGB Carl Fratter reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FGA Carl Fratter reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FERMT3 Carl Fratter reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F9 Carl Fratter reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F8 Carl Fratter reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F7 Carl Fratter reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F5 Carl Fratter reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F2R Carl Fratter reviewed gene: F2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 F13B Carl Fratter reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F13A1 Carl Fratter reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F12 Carl Fratter reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F11 Carl Fratter reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F10 Carl Fratter reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ETV6 Carl Fratter reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 EPHB2 Carl Fratter reviewed gene: EPHB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 ENG Carl Fratter reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 DTNBP1 Carl Fratter reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 DIAPH1 Carl Fratter reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 CYCS Carl Fratter reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 COL5A2 Carl Fratter reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 COL5A1 Carl Fratter reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 COL3A1 Carl Fratter reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 COL1A1 Carl Fratter reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 CHST14 Carl Fratter reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 CDC42 Carl Fratter reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 BLOC1S6 Carl Fratter reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 BLOC1S3 Carl Fratter reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ARPC1B Carl Fratter reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 AP3D1 Carl Fratter reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 AP3B1 Carl Fratter reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ANO6 Carl Fratter reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ANKRD26 Carl Fratter reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ADAMTS13 Carl Fratter reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ACVRL1 Carl Fratter reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ACTN1 Carl Fratter reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ACTB Carl Fratter reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ABCG8 Carl Fratter reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ABCG5 Carl Fratter reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.4 WAS Louise Daugherty Source NHS GMS was added to WAS.
Bleeding and platelet disorders v0.4 VWF Louise Daugherty Source NHS GMS was added to VWF.
Bleeding and platelet disorders v0.4 VPS33B Louise Daugherty Source NHS GMS was added to VPS33B.
Bleeding and platelet disorders v0.4 VKORC1 Louise Daugherty Source NHS GMS was added to VKORC1.
Bleeding and platelet disorders v0.4 VIPAS39 Louise Daugherty Source NHS GMS was added to VIPAS39.
Bleeding and platelet disorders v0.4 UNC13D Louise Daugherty Source NHS GMS was added to UNC13D.
Bleeding and platelet disorders v0.4 TUBB1 Louise Daugherty Source NHS GMS was added to TUBB1.
Bleeding and platelet disorders v0.4 TRPM7 Louise Daugherty Source NHS GMS was added to TRPM7.
Bleeding and platelet disorders v0.4 TPM4 Louise Daugherty Source NHS GMS was added to TPM4.
Bleeding and platelet disorders v0.4 THPO Louise Daugherty Source NHS GMS was added to THPO.
Bleeding and platelet disorders v0.4 THBD Louise Daugherty Source NHS GMS was added to THBD.
Bleeding and platelet disorders v0.4 TBXAS1 Louise Daugherty Source NHS GMS was added to TBXAS1.
Bleeding and platelet disorders v0.4 TBXA2R Louise Daugherty Source NHS GMS was added to TBXA2R.
Bleeding and platelet disorders v0.4 STXBP2 Louise Daugherty Source NHS GMS was added to STXBP2.
Bleeding and platelet disorders v0.4 STX11 Louise Daugherty Source NHS GMS was added to STX11.
Bleeding and platelet disorders v0.4 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Bleeding and platelet disorders v0.4 SRC Louise Daugherty Source NHS GMS was added to SRC.
Bleeding and platelet disorders v0.4 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Bleeding and platelet disorders v0.4 SLFN14 Louise Daugherty Source NHS GMS was added to SLFN14.
Bleeding and platelet disorders v0.4 SLC45A2 Louise Daugherty Source NHS GMS was added to SLC45A2.
Bleeding and platelet disorders v0.4 SERPINF2 Louise Daugherty Source NHS GMS was added to SERPINF2.
Bleeding and platelet disorders v0.4 RUNX1 Louise Daugherty Source NHS GMS was added to RUNX1.
Bleeding and platelet disorders v0.4 RNU4ATAC Louise Daugherty Source NHS GMS was added to RNU4ATAC.
Bleeding and platelet disorders v0.4 RGS2 Louise Daugherty Source NHS GMS was added to RGS2.
Bleeding and platelet disorders v0.4 RBM8A Louise Daugherty Source NHS GMS was added to RBM8A.
Bleeding and platelet disorders v0.4 RASGRP2 Louise Daugherty Source NHS GMS was added to RASGRP2.
Bleeding and platelet disorders v0.4 PTPRJ Louise Daugherty Source NHS GMS was added to PTPRJ.
Bleeding and platelet disorders v0.4 PTPN11 Louise Daugherty Source NHS GMS was added to PTPN11.
Bleeding and platelet disorders v0.4 PTGS1 Louise Daugherty Source NHS GMS was added to PTGS1.
Bleeding and platelet disorders v0.4 PRKACG Louise Daugherty Source NHS GMS was added to PRKACG.
Bleeding and platelet disorders v0.4 PLAU Louise Daugherty Source NHS GMS was added to PLAU.
Bleeding and platelet disorders v0.4 PLA2G4A Louise Daugherty Source NHS GMS was added to PLA2G4A.
Bleeding and platelet disorders v0.4 P2RY12 Louise Daugherty Source NHS GMS was added to P2RY12.
Bleeding and platelet disorders v0.4 P2RX1 Louise Daugherty Source NHS GMS was added to P2RX1.
Bleeding and platelet disorders v0.4 NBEAL2 Louise Daugherty Source NHS GMS was added to NBEAL2.
Bleeding and platelet disorders v0.4 NBEA Louise Daugherty Source NHS GMS was added to NBEA.
Bleeding and platelet disorders v0.4 MYH9 Louise Daugherty Source NHS GMS was added to MYH9.
Bleeding and platelet disorders v0.4 MKL1 Louise Daugherty Source NHS GMS was added to MKL1.
Bleeding and platelet disorders v0.4 MPL Louise Daugherty Source NHS GMS was added to MPL.
Bleeding and platelet disorders v0.4 MPIG6B Louise Daugherty Source NHS GMS was added to MPIG6B.
Bleeding and platelet disorders v0.4 MECOM Louise Daugherty Source NHS GMS was added to MECOM.
Bleeding and platelet disorders v0.4 MCFD2 Louise Daugherty Source NHS GMS was added to MCFD2.
Bleeding and platelet disorders v0.4 LYST Louise Daugherty Source NHS GMS was added to LYST.
Bleeding and platelet disorders v0.4 LMAN1 Louise Daugherty Source NHS GMS was added to LMAN1.
Bleeding and platelet disorders v0.4 KNG1 Louise Daugherty Source NHS GMS was added to KNG1.
Bleeding and platelet disorders v0.4 KLKB1 Louise Daugherty Source NHS GMS was added to KLKB1.
Bleeding and platelet disorders v0.4 KDSR Louise Daugherty Source NHS GMS was added to KDSR.
Bleeding and platelet disorders v0.4 ITGB3 Louise Daugherty Source NHS GMS was added to ITGB3.
Bleeding and platelet disorders v0.4 ITGA2B Louise Daugherty Source NHS GMS was added to ITGA2B.
Bleeding and platelet disorders v0.4 ITGA2 Louise Daugherty Source NHS GMS was added to ITGA2.
Bleeding and platelet disorders v0.4 HPS6 Louise Daugherty Source NHS GMS was added to HPS6.
Bleeding and platelet disorders v0.4 HPS5 Louise Daugherty Source NHS GMS was added to HPS5.
Bleeding and platelet disorders v0.4 HPS4 Louise Daugherty Source NHS GMS was added to HPS4.
Bleeding and platelet disorders v0.4 HPS3 Louise Daugherty Source NHS GMS was added to HPS3.
Bleeding and platelet disorders v0.4 HPS1 Louise Daugherty Source NHS GMS was added to HPS1.
Bleeding and platelet disorders v0.4 HOXA11 Louise Daugherty Source NHS GMS was added to HOXA11.
Bleeding and platelet disorders v0.4 GP9 Louise Daugherty Source NHS GMS was added to GP9.
Bleeding and platelet disorders v0.4 GP6 Louise Daugherty Source NHS GMS was added to GP6.
Bleeding and platelet disorders v0.4 GP1BB Louise Daugherty Source NHS GMS was added to GP1BB.
Bleeding and platelet disorders v0.4 GP1BA Louise Daugherty Source NHS GMS was added to GP1BA.
Bleeding and platelet disorders v0.4 GNE Louise Daugherty Source NHS GMS was added to GNE.
Bleeding and platelet disorders v0.4 GGCX Louise Daugherty Source NHS GMS was added to GGCX.
Bleeding and platelet disorders v0.4 GFI1B Louise Daugherty Source NHS GMS was added to GFI1B.
Bleeding and platelet disorders v0.4 GBA Louise Daugherty Source NHS GMS was added to GBA.
Bleeding and platelet disorders v0.4 GATA1 Louise Daugherty Source NHS GMS was added to GATA1.
Bleeding and platelet disorders v0.4 GALE Louise Daugherty Source NHS GMS was added to GALE.
Bleeding and platelet disorders v0.4 FYB1 Louise Daugherty Source NHS GMS was added to FYB1.
Bleeding and platelet disorders v0.4 FLNA Louise Daugherty Source NHS GMS was added to FLNA.
Bleeding and platelet disorders v0.4 FLI1 Louise Daugherty Source NHS GMS was added to FLI1.
Bleeding and platelet disorders v0.4 FGG Louise Daugherty Source NHS GMS was added to FGG.
Bleeding and platelet disorders v0.4 FGB Louise Daugherty Source NHS GMS was added to FGB.
Bleeding and platelet disorders v0.4 FGA Louise Daugherty Source NHS GMS was added to FGA.
Bleeding and platelet disorders v0.4 FERMT3 Louise Daugherty Source NHS GMS was added to FERMT3.
Bleeding and platelet disorders v0.4 F9 Louise Daugherty Source NHS GMS was added to F9.
Bleeding and platelet disorders v0.4 F8 Louise Daugherty Source NHS GMS was added to F8.
Bleeding and platelet disorders v0.4 F7 Louise Daugherty Source NHS GMS was added to F7.
Bleeding and platelet disorders v0.4 F5 Louise Daugherty Source NHS GMS was added to F5.
Bleeding and platelet disorders v0.4 F2R Louise Daugherty Source NHS GMS was added to F2R.
Bleeding and platelet disorders v0.4 F13B Louise Daugherty Source NHS GMS was added to F13B.
Bleeding and platelet disorders v0.4 F13A1 Louise Daugherty Source NHS GMS was added to F13A1.
Bleeding and platelet disorders v0.4 F12 Louise Daugherty Source NHS GMS was added to F12.
Bleeding and platelet disorders v0.4 F11 Louise Daugherty Source NHS GMS was added to F11.
Bleeding and platelet disorders v0.4 F10 Louise Daugherty Source NHS GMS was added to F10.
Bleeding and platelet disorders v0.4 ETV6 Louise Daugherty Source NHS GMS was added to ETV6.
Bleeding and platelet disorders v0.4 EPHB2 Louise Daugherty Source NHS GMS was added to EPHB2.
Bleeding and platelet disorders v0.4 ENG Louise Daugherty Source NHS GMS was added to ENG.
Bleeding and platelet disorders v0.4 DTNBP1 Louise Daugherty Source NHS GMS was added to DTNBP1.
Bleeding and platelet disorders v0.4 DIAPH1 Louise Daugherty Source NHS GMS was added to DIAPH1.
Bleeding and platelet disorders v0.4 CYCS Louise Daugherty Source NHS GMS was added to CYCS.
Bleeding and platelet disorders v0.4 COL5A2 Louise Daugherty Source NHS GMS was added to COL5A2.
Bleeding and platelet disorders v0.4 COL5A1 Louise Daugherty Source NHS GMS was added to COL5A1.
Bleeding and platelet disorders v0.4 COL3A1 Louise Daugherty Source NHS GMS was added to COL3A1.
Bleeding and platelet disorders v0.4 COL1A1 Louise Daugherty Source NHS GMS was added to COL1A1.
Bleeding and platelet disorders v0.4 CHST14 Louise Daugherty Source NHS GMS was added to CHST14.
Bleeding and platelet disorders v0.4 CDC42 Louise Daugherty Source NHS GMS was added to CDC42.
Bleeding and platelet disorders v0.4 BLOC1S6 Louise Daugherty Source NHS GMS was added to BLOC1S6.
Bleeding and platelet disorders v0.4 BLOC1S3 Louise Daugherty Source NHS GMS was added to BLOC1S3.
Bleeding and platelet disorders v0.4 ARPC1B Louise Daugherty Source NHS GMS was added to ARPC1B.
Bleeding and platelet disorders v0.4 AP3D1 Louise Daugherty Source NHS GMS was added to AP3D1.
Bleeding and platelet disorders v0.4 AP3B1 Louise Daugherty Source NHS GMS was added to AP3B1.
Bleeding and platelet disorders v0.4 ANO6 Louise Daugherty Source NHS GMS was added to ANO6.
Bleeding and platelet disorders v0.4 ANKRD26 Louise Daugherty Source NHS GMS was added to ANKRD26.
Bleeding and platelet disorders v0.4 ADAMTS13 Louise Daugherty Source NHS GMS was added to ADAMTS13.
Bleeding and platelet disorders v0.4 ACVRL1 Louise Daugherty Source NHS GMS was added to ACVRL1.
Bleeding and platelet disorders v0.4 ACTN1 Louise Daugherty Source NHS GMS was added to ACTN1.
Bleeding and platelet disorders v0.4 ACTB Louise Daugherty Source NHS GMS was added to ACTB.
Bleeding and platelet disorders v0.4 ABCG8 Louise Daugherty Source NHS GMS was added to ABCG8.
Bleeding and platelet disorders v0.4 ABCG5 Louise Daugherty Source NHS GMS was added to ABCG5.
Bleeding and platelet disorders v0.3 WAS Louise Daugherty Source Expert Review Green was added to WAS.
Mode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300299 Neutropenia, severe congenital, X-linked; 313900 Thrombocytopenia, X-linked intermittent; 301000 Wiskott-Aldrich syndrome for gene: WAS
Publications for gene WAS were changed from to 20173115; 15284122; 17400488
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VWF Louise Daugherty Source Expert Review Green was added to VWF.
Mode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF
Publications for gene VWF were changed from to 16985174; 23407766; 28971901
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VPS33B Louise Daugherty Source Expert Review Green was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
Publications for gene VPS33B were changed from to 15052268; 16896922; 22753090
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VKORC1 Louise Daugherty Source Expert Review Green was added to VKORC1.
Mode of inheritance for gene VKORC1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1
Publications for gene VKORC1 were changed from to 26287237; 14765194; 20946155
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VIPAS39 Louise Daugherty Source Expert Review Green was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Publications for gene VIPAS39 were changed from to 22753090; 28039895; 20190753
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 UNC13D Louise Daugherty Source Expert Review Green was added to UNC13D.
Mode of inheritance for gene UNC13D was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene UNC13D were changed from to 28399723; 28748566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TUBB1 Louise Daugherty Source Expert Review Green was added to TUBB1.
Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
Publications for gene TUBB1 were changed from to 27479822; 27905099; 24344610
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TRPM7 Louise Daugherty Source Expert Review Green was added to TRPM7.
Mode of inheritance for gene TRPM7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes macrothrombocytopenia; (NO OMIM NUMBER OR DISEASE NAME for gene: TRPM7
Publications for gene TRPM7 were changed from to 27020697
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TPM4 Louise Daugherty Source Expert Review Green was added to TPM4.
Mode of inheritance for gene TPM4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene TPM4 were changed from to 27479822; 28134622
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 THPO Louise Daugherty Source Expert Review Green was added to THPO.
Mode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
Publications for gene THPO were changed from to 28466964; 28559357; 29191945
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 THBD Louise Daugherty Source Expert Review Green was added to THBD.
Mode of inheritance for gene THBD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Publications for gene THBD were changed from to 25049278; 27479822; 28267383; 29145514
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TBXAS1 Louise Daugherty Source Expert Review Green was added to TBXAS1.
Mode of inheritance for gene TBXAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 231095 Ghosal hematodiaphyseal syndrome; 614158 ?Thromboxane synthase deficiency for gene: TBXAS1
Publications for gene TBXAS1 were changed from to 18264100; 28868793
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TBXA2R Louise Daugherty Source Expert Review Green was added to TBXA2R.
Mode of inheritance for gene TBXA2R was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
Publications for gene TBXA2R were changed from to 22517902; 8972034; 24452735; 30089223; 19828703; 8428006
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 STXBP2 Louise Daugherty Source Expert Review Green was added to STXBP2.
Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
Publications for gene STXBP2 were changed from to 20798128; 25564401; 19804848
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 STX11 Louise Daugherty Source Expert Review Green was added to STX11.
Mode of inheritance for gene STX11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene STX11 were changed from to 28399723
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 STIM1 Louise Daugherty Source Expert Review Green was added to STIM1.
Mode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Publications for gene STIM1 were changed from to 19420366; 27876257
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SRC Louise Daugherty Source Expert Review Green was added to SRC.
Mode of inheritance for gene SRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
Publications for gene SRC were changed from to 26936507
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SMAD4 Louise Daugherty Source Expert Review Green was added to SMAD4.
Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome for gene: SMAD4
Publications for gene SMAD4 were changed from to 25269631; 24001356; 30251589; 16613914
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SLFN14 Louise Daugherty Source Expert Review Green was added to SLFN14.
Mode of inheritance for gene SLFN14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
Publications for gene SLFN14 were changed from to 26769223; 26280575
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SLC45A2 Louise Daugherty Source Expert Review Green was added to SLC45A2.
Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2
Publications for gene SLC45A2 were changed from to none submitted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SERPINF2 Louise Daugherty Source Expert Review Green was added to SERPINF2.
Mode of inheritance for gene SERPINF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
Publications for gene SERPINF2 were changed from to 14999928; 29656168; 17961166
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RUNX1 Louise Daugherty Source Expert Review Green was added to RUNX1.
Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Publications for gene RUNX1 were changed from to 28240786; 24100448; 10508512
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RNU4ATAC Louise Daugherty Source Expert Review Green was added to RNU4ATAC.
Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome for gene: RNU4ATAC
Publications for gene RNU4ATAC were changed from to none submitted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RGS2 Louise Daugherty Source Expert Review Green was added to RGS2.
Mode of inheritance for gene RGS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene RGS2 were changed from to 20403096; 28784619
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RBM8A Louise Daugherty Source Expert Review Green was added to RBM8A.
Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Publications for gene RBM8A were changed from to 22366785; 24053387
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RASGRP2 Louise Daugherty Source Expert Review Green was added to RASGRP2.
Mode of inheritance for gene RASGRP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Publications for gene RASGRP2 were changed from to 28637664; 27235135; 28762304
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PTPRJ Louise Daugherty Source Expert Review Green was added to PTPRJ.
Mode of inheritance for gene PTPRJ was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene PTPRJ were changed from to 30591527
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PTPN11 Louise Daugherty Source Expert Review Green was added to PTPN11.
Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 163950 Noonan syndrome 1 for gene: PTPN11
Publications for gene PTPN11 were changed from to none submitted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PTGS1 Louise Daugherty Source Expert Review Green was added to PTGS1.
Mode of inheritance for gene PTGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Publications for gene PTGS1 were changed from to 11442478; 27629384; 8562397; 28748566; 6103258
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PRKACG Louise Daugherty Source Expert Review Green was added to PRKACG.
Mode of inheritance for gene PRKACG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Publications for gene PRKACG were changed from to 25061177
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PLAU Louise Daugherty Source Expert Review Green was added to PLAU.
Mode of inheritance for gene PLAU was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
Publications for gene PLAU were changed from to 28301587; 20007542
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PLA2G4A Louise Daugherty Source Expert Review Green was added to PLA2G4A.
Mode of inheritance for gene PLA2G4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Phospholipase A2, group IV A, deficiency of; (NO OMIM NUMBER) for gene: PLA2G4A
Publications for gene PLA2G4A were changed from to 21247147; 18451993; 23268370
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 P2RY12 Louise Daugherty Source Expert Review Green was added to P2RY12.
Mode of inheritance for gene P2RY12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12
Publications for gene P2RY12 were changed from to 11196645; 609821; 20966167
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 P2RX1 Louise Daugherty Source Expert Review Green was added to P2RX1.
Mode of inheritance for gene P2RX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY for gene: P2RX1
Publications for gene P2RX1 were changed from to 10816552
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 NBEAL2 Louise Daugherty Source Expert Review Green was added to NBEAL2.
Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Publications for gene NBEAL2 were changed from to 21765412; 27870194; 21765411
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 NBEA Louise Daugherty Source Expert Review Green was added to NBEA.
Mode of inheritance for gene NBEA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene NBEA were changed from to 28748566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MYH9 Louise Daugherty Source Expert Review Green was added to MYH9.
Mode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Publications for gene MYH9 were changed from to 28368695; 29679756; 24186861
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MKL1 Louise Daugherty Source Expert Review Green was added to MKL1.
Mode of inheritance for gene MKL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene MKL1 were changed from to 27479822
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MPL Louise Daugherty Source Expert Review Green was added to MPL.
Mode of inheritance for gene MPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Publications for gene MPL were changed from to 16470591; 11133753; 22180433
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MPIG6B Louise Daugherty Source Expert Review Green was added to MPIG6B.
Mode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Publications for gene MPIG6B were changed from to 29898956; 27743390
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MECOM Louise Daugherty Source Expert Review Green was added to MECOM.
Mode of inheritance for gene MECOM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Publications for gene MECOM were changed from to 26581901; 29540340; 29519864
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MCFD2 Louise Daugherty Source Expert Review Green was added to MCFD2.
Mode of inheritance for gene MCFD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Publications for gene MCFD2 were changed from to 20004600; 12717434; 16304051
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 LYST Louise Daugherty Source Expert Review Green was added to LYST.
Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST
Publications for gene LYST were changed from to 9215680; 11857544; 21209802
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 LMAN1 Louise Daugherty Source Expert Review Green was added to LMAN1.
Mode of inheritance for gene LMAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Publications for gene LMAN1 were changed from to 10090934; 10090935; 16304051
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 KNG1 Louise Daugherty Source Expert Review Green was added to KNG1.
Mode of inheritance for gene KNG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 228960 [High molecular weight kininogen deficiency]; [Kininogen deficiency] for gene: KNG1
Publications for gene KNG1 were changed from to 12576314; 24492696; 7901207
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 KLKB1 Louise Daugherty Source Expert Review Green was added to KLKB1.
Mode of inheritance for gene KLKB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
Publications for gene KLKB1 were changed from to 17598838; 14652634; 20301226
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 KDSR Louise Daugherty Source Expert Review Green was added to KDSR.
Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM NUMBER OR DISEASE); Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Publications for gene KDSR were changed from to 30467204
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ITGB3 Louise Daugherty Source Expert Review Green was added to ITGB3.
Mode of inheritance for gene ITGB3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
Publications for gene ITGB3 were changed from to 19691478; 25728920; 20020534
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ITGA2B Louise Daugherty Source Expert Review Green was added to ITGA2B.
Mode of inheritance for gene ITGA2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
Publications for gene ITGA2B were changed from to 29675921; 25728920; 24498605
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ITGA2 Louise Daugherty Source Expert Review Green was added to ITGA2.
Mode of inheritance for gene ITGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
Publications for gene ITGA2 were changed from to 10590055
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS6 Louise Daugherty Source Expert Review Green was added to HPS6.
Mode of inheritance for gene HPS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
Publications for gene HPS6 were changed from to 27514596; 27593200; 19843503
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS5 Louise Daugherty Source Expert Review Green was added to HPS5.
Mode of inheritance for gene HPS5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
Publications for gene HPS5 were changed from to 27514596; 28296950; 28640947
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS4 Louise Daugherty Source Expert Review Green was added to HPS4.
Mode of inheritance for gene HPS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
Publications for gene HPS4 were changed from to 27514596; 12664304; 29108692
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS3 Louise Daugherty Source Expert Review Green was added to HPS3.
Mode of inheritance for gene HPS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
Publications for gene HPS3 were changed from to 27514596; 11590544; 28284561
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS1 Louise Daugherty Source Expert Review Green was added to HPS1.
Mode of inheritance for gene HPS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
Publications for gene HPS1 were changed from to 27514596; 29345414; 12442288; 25707719
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HOXA11 Louise Daugherty Source Expert Review Green was added to HOXA11.
Mode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Publications for gene HOXA11 were changed from to 16765069; 11101832
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP9 Louise Daugherty Source Expert Review Green was added to GP9.
Mode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes BSS; 231200.BERNARD-SOULIER SYNDROME for gene: GP9
Publications for gene GP9 were changed from to 24934643; 9616133; 21357716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP6 Louise Daugherty Source Expert Review Green was added to GP6.
Mode of inheritance for gene GP6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
Publications for gene GP6 were changed from to 19552682; 19549989
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP1BB Louise Daugherty Source Expert Review Green was added to GP1BB.
Mode of inheritance for gene GP1BB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
Publications for gene GP1BB were changed from to 24934643; 9616133; 21357716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP1BA Louise Daugherty Source Expert Review Green was added to GP1BA.
Mode of inheritance for gene GP1BA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA
Publications for gene GP1BA were changed from to 24934643; 9616133; 21357716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GNE Louise Daugherty Source Expert Review Green was added to GNE.
Mode of inheritance for gene GNE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM NUMBER); Myopathy associated with thrombocytopenia for gene: GNE
Publications for gene GNE were changed from to 27479822; 29941673; 30171045
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GGCX Louise Daugherty Source Expert Review Green was added to GGCX.
Mode of inheritance for gene GGCX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
Publications for gene GGCX were changed from to 25151188; 28679738; 21435120
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GFI1B Louise Daugherty Source Expert Review Green was added to GFI1B.
Mode of inheritance for gene GFI1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
Publications for gene GFI1B were changed from to 23927492; 28041820
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GBA Louise Daugherty Source Expert Review Green was added to GBA.
Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Publications for gene GBA were changed from to 27265538; 27816428; 20575041
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GATA1 Louise Daugherty Source Expert Review Green was added to GATA1.
Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Publications for gene GATA1 were changed from to 10700180; 23704091; 16103636
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GALE Louise Daugherty Source Expert Review Green was added to GALE.
Mode of inheritance for gene GALE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM OR DISEASE); Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE) for gene: GALE
Publications for gene GALE were changed from to 30247636
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FYB1 Louise Daugherty Source Expert Review Green was added to FYB1.
Mode of inheritance for gene FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Publications for gene FYB1 were changed from to 25516138; 25876182
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FLNA Louise Daugherty Source Expert Review Green was added to FLNA.
Mode of inheritance for gene FLNA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes (NO OMIM NUMBER); Macrothrombocytopenia for gene: FLNA
Publications for gene FLNA were changed from to 29449050; 21960593
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FLI1 Louise Daugherty Source Expert Review Green was added to FLI1.
Mode of inheritance for gene FLI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes BDPLT21; 617443.BLEEDING DISORDER, PLATELET-TYPE, 21 for gene: FLI1
Publications for gene FLI1 were changed from to 26316623; 24100448; 28255014
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FGG Louise Daugherty Source Expert Review Green was added to FGG.
Mode of inheritance for gene FGG was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Publications for gene FGG were changed from to 17295221; 30418131; 30349899
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FGB Louise Daugherty Source Expert Review Green was added to FGB.
Mode of inheritance for gene FGB was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital; 202400 Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Publications for gene FGB were changed from to 1565641; 12161363; 19404555
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FGA Louise Daugherty Source Expert Review Green was added to FGA.
Mode of inheritance for gene FGA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Publications for gene FGA were changed from to 18771425; 23061815; 25427968
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FERMT3 Louise Daugherty Source Expert Review Green was added to FERMT3.
Mode of inheritance for gene FERMT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
Publications for gene FERMT3 were changed from to 20357244; 20216991
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F9 Louise Daugherty Source Expert Review Green was added to F9.
Mode of inheritance for gene F9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 306900 Haemophilia B for gene: F9
Publications for gene F9 were changed from to 7937052; 22103590; 15921378
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F8 Louise Daugherty Source Expert Review Green was added to F8.
Mode of inheritance for gene F8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 306700 Haemophilia A for gene: F8
Publications for gene F8 were changed from to 22103590; 11857744; 18217193
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F7 Louise Daugherty Source Expert Review Green was added to F7.
Mode of inheritance for gene F7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 227500 Factor VII deficiency for gene: F7
Publications for gene F7 were changed from to 11129332; 21206266; 10862079
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F5 Louise Daugherty Source Expert Review Green was added to F5.
Mode of inheritance for gene F5 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
Publications for gene F5 were changed from to 19861681; 20546033; 19486170
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F2R Louise Daugherty Source Expert Review Green was added to F2R.
Mode of inheritance for gene F2R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Type 1 VWD for gene: F2R
Publications for gene F2R were changed from to 26630678
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F13B Louise Daugherty Source Expert Review Green was added to F13B.
Mode of inheritance for gene F13B was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Publications for gene F13B were changed from to 11313256; 8324218; 20331752
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F13A1 Louise Daugherty Source Expert Review Green was added to F13A1.
Mode of inheritance for gene F13A1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
Publications for gene F13A1 were changed from to 26852661; 28520207; 8555083
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F12 Louise Daugherty Source Expert Review Green was added to F12.
Mode of inheritance for gene F12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 234000 Factor XII deficiency; 610618 Hereditary Angioedema type III for gene: F12
Publications for gene F12 were changed from to 9354665; 20386432; 27003566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F11 Louise Daugherty Source Expert Review Green was added to F11.
Mode of inheritance for gene F11 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 612416 Factor XI deficiency for gene: F11
Publications for gene F11 were changed from to 16835901; 24112640; 29178608
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F10 Louise Daugherty Source Expert Review Green was added to F10.
Mode of inheritance for gene F10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 227600 Factor X deficiency for gene: F10
Publications for gene F10 were changed from to 21854511; 20331754; 9198147
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ETV6 Louise Daugherty Source Expert Review Green was added to ETV6.
Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Publications for gene ETV6 were changed from to 27365488; 27663637; 28555414
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 EPHB2 Louise Daugherty Source Expert Review Green was added to EPHB2.
Mode of inheritance for gene EPHB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene EPHB2 were changed from to 30213874
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ENG Louise Daugherty Source Expert Review Green was added to ENG.
Mode of inheritance for gene ENG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Publications for gene ENG were changed from to 7894484; 25970827; 30251589
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 DTNBP1 Louise Daugherty Source Expert Review Green was added to DTNBP1.
Mode of inheritance for gene DTNBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
Publications for gene DTNBP1 were changed from to 12923531; 23364359; 28259707
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 DIAPH1 Louise Daugherty Source Expert Review Green was added to DIAPH1.
Mode of inheritance for gene DIAPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes (NO OMIM NUMBER); Macrothrombocytopenia and hearing loss for gene: DIAPH1
Publications for gene DIAPH1 were changed from to 28815995; 26912466; 27707755
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 CYCS Louise Daugherty Source Expert Review Green was added to CYCS.
Mode of inheritance for gene CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Publications for gene CYCS were changed from to 18345000; 27479822; 24326104
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 COL5A2 Louise Daugherty Source Expert Review Green was added to COL5A2.
Mode of inheritance for gene COL5A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 130010 Ehlers-Danlos syndrome, classic type, 2 for gene: COL5A2
Publications for gene COL5A2 were changed from to 15580559; :28485813; 25987251
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 COL5A1 Louise Daugherty Source Expert Review Green was added to COL5A1.
Mode of inheritance for gene COL5A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 130000 Ehlers-Danlos syndrome, classic type, 1 for gene: COL5A1
Publications for gene COL5A1 were changed from to 22696272; 28485813; 23587214
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 COL3A1 Louise Daugherty Source Expert Review Green was added to COL3A1.
Mode of inheritance for gene COL3A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 130050 Ehlers-Danlos syndrome, vascular type for gene: COL3A1
Publications for gene COL3A1 were changed from to 22019127; 25758994; 22143279
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 COL1A1 Louise Daugherty Source Expert Review Green was added to COL1A1.
Mode of inheritance for gene COL1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 114000 Caffey disease; 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1 for gene: COL1A1
Publications for gene COL1A1 were changed from to 27011056
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 CHST14 Louise Daugherty Source Expert Review Green was added to CHST14.
Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 601776 Ehlers-Danlos syndrome, musculocontractural type 1 for gene: CHST14
Publications for gene CHST14 were changed from to 20533528; 26373698; 25703627
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 CDC42 Louise Daugherty Source Expert Review Green was added to CDC42.
Mode of inheritance for gene CDC42 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
Publications for gene CDC42 were changed from to 26708094; 26386261; 29394990
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 BLOC1S6 Louise Daugherty Source Expert Review Green was added to BLOC1S6.
Mode of inheritance for gene BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
Publications for gene BLOC1S6 were changed from to 22461475; 29054114
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 BLOC1S3 Louise Daugherty Source Expert Review Green was added to BLOC1S3.
Mode of inheritance for gene BLOC1S3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
Publications for gene BLOC1S3 were changed from to 16385460; 22709368
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ARPC1B Louise Daugherty Source Expert Review Green was added to ARPC1B.
Mode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
Publications for gene ARPC1B were changed from to 29127144; 28368018
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 AP3D1 Louise Daugherty Source Expert Review Green was added to AP3D1.
Mode of inheritance for gene AP3D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
Publications for gene AP3D1 were changed from to 28936583; 26744459
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 AP3B1 Louise Daugherty Source Expert Review Green was added to AP3B1.
Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
Publications for gene AP3B1 were changed from to 28585318; 23403622; 26684649
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ANO6 Louise Daugherty Source Expert Review Green was added to ANO6.
Mode of inheritance for gene ANO6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 262890 Scott syndrome for gene: ANO6
Publications for gene ANO6 were changed from to 21511967; 21107324; 27879994
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ANKRD26 Louise Daugherty Source Expert Review Green was added to ANKRD26.
Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Publications for gene ANKRD26 were changed from to 21467542; 24030261; 21211618
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ADAMTS13 Louise Daugherty Source Expert Review Green was added to ADAMTS13.
Mode of inheritance for gene ADAMTS13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Publications for gene ADAMTS13 were changed from to 15009458; 11586351; 12753286
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ACVRL1 Louise Daugherty Source Expert Review Green was added to ACVRL1.
Mode of inheritance for gene ACVRL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Publications for gene ACVRL1 were changed from to 16752392; 25970827; 30251589
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ACTN1 Louise Daugherty Source Expert Review Green was added to ACTN1.
Mode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
Publications for gene ACTN1 were changed from to 25361813; 23434115; 25949529
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ACTB Louise Daugherty Source Expert Review Green was added to ACTB.
Mode of inheritance for gene ACTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM NUMBER); AD thrombocytopenia for gene: ACTB
Publications for gene ACTB were changed from to 30451859
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ABCG8 Louise Daugherty Source Expert Review Green was added to ABCG8.
Mode of inheritance for gene ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
Publications for gene ABCG8 were changed from to 24166850; 27291889
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ABCG5 Louise Daugherty Source Expert Review Green was added to ABCG5.
Mode of inheritance for gene ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
Publications for gene ABCG5 were changed from to 30270055; 24623560; 27291889
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.2 WAS Louise Daugherty gene: WAS was added
gene: WAS was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: WAS was set to
Bleeding and platelet disorders v0.2 VWF Louise Daugherty gene: VWF was added
gene: VWF was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VWF was set to
Bleeding and platelet disorders v0.2 VPS33B Louise Daugherty gene: VPS33B was added
gene: VPS33B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VPS33B was set to
Bleeding and platelet disorders v0.2 VKORC1 Louise Daugherty gene: VKORC1 was added
gene: VKORC1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VKORC1 was set to
Bleeding and platelet disorders v0.2 VIPAS39 Louise Daugherty gene: VIPAS39 was added
gene: VIPAS39 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VIPAS39 was set to
Bleeding and platelet disorders v0.2 UNC13D Louise Daugherty gene: UNC13D was added
gene: UNC13D was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: UNC13D was set to
Bleeding and platelet disorders v0.2 TUBB1 Louise Daugherty gene: TUBB1 was added
gene: TUBB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TUBB1 was set to
Bleeding and platelet disorders v0.2 TRPM7 Louise Daugherty gene: TRPM7 was added
gene: TRPM7 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TRPM7 was set to
Bleeding and platelet disorders v0.2 TPM4 Louise Daugherty gene: TPM4 was added
gene: TPM4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TPM4 was set to
Bleeding and platelet disorders v0.2 THPO Louise Daugherty gene: THPO was added
gene: THPO was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: THPO was set to
Bleeding and platelet disorders v0.2 THBD Louise Daugherty gene: THBD was added
gene: THBD was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: THBD was set to
Bleeding and platelet disorders v0.2 TBXAS1 Louise Daugherty gene: TBXAS1 was added
gene: TBXAS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TBXAS1 was set to
Bleeding and platelet disorders v0.2 TBXA2R Louise Daugherty gene: TBXA2R was added
gene: TBXA2R was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TBXA2R was set to
Bleeding and platelet disorders v0.2 STXBP2 Louise Daugherty gene: STXBP2 was added
gene: STXBP2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STXBP2 was set to
Bleeding and platelet disorders v0.2 STX11 Louise Daugherty gene: STX11 was added
gene: STX11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STX11 was set to
Bleeding and platelet disorders v0.2 STIM1 Louise Daugherty gene: STIM1 was added
gene: STIM1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STIM1 was set to
Bleeding and platelet disorders v0.2 SRC Louise Daugherty gene: SRC was added
gene: SRC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SRC was set to
Bleeding and platelet disorders v0.2 SMAD4 Louise Daugherty gene: SMAD4 was added
gene: SMAD4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SMAD4 was set to
Bleeding and platelet disorders v0.2 SLFN14 Louise Daugherty gene: SLFN14 was added
gene: SLFN14 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLFN14 was set to
Bleeding and platelet disorders v0.2 SLC45A2 Louise Daugherty gene: SLC45A2 was added
gene: SLC45A2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC45A2 was set to
Bleeding and platelet disorders v0.2 SERPINF2 Louise Daugherty gene: SERPINF2 was added
gene: SERPINF2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPINF2 was set to
Bleeding and platelet disorders v0.2 RUNX1 Louise Daugherty gene: RUNX1 was added
gene: RUNX1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RUNX1 was set to
Bleeding and platelet disorders v0.2 RNU4ATAC Louise Daugherty gene: RNU4ATAC was added
gene: RNU4ATAC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RNU4ATAC was set to
Bleeding and platelet disorders v0.2 RGS2 Louise Daugherty gene: RGS2 was added
gene: RGS2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RGS2 was set to
Bleeding and platelet disorders v0.2 RBM8A Louise Daugherty gene: RBM8A was added
gene: RBM8A was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RBM8A was set to
Bleeding and platelet disorders v0.2 RASGRP2 Louise Daugherty gene: RASGRP2 was added
gene: RASGRP2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RASGRP2 was set to
Bleeding and platelet disorders v0.2 PTPRJ Louise Daugherty gene: PTPRJ was added
gene: PTPRJ was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PTPRJ was set to
Bleeding and platelet disorders v0.2 PTPN11 Louise Daugherty gene: PTPN11 was added
gene: PTPN11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PTPN11 was set to
Bleeding and platelet disorders v0.2 PTGS1 Louise Daugherty gene: PTGS1 was added
gene: PTGS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PTGS1 was set to
Bleeding and platelet disorders v0.2 PRKACG Louise Daugherty gene: PRKACG was added
gene: PRKACG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PRKACG was set to
Bleeding and platelet disorders v0.2 PLAU Louise Daugherty gene: PLAU was added
gene: PLAU was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PLAU was set to
Bleeding and platelet disorders v0.2 PLA2G4A Louise Daugherty gene: PLA2G4A was added
gene: PLA2G4A was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PLA2G4A was set to
Bleeding and platelet disorders v0.2 P2RY12 Louise Daugherty gene: P2RY12 was added
gene: P2RY12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: P2RY12 was set to
Bleeding and platelet disorders v0.2 P2RX1 Louise Daugherty gene: P2RX1 was added
gene: P2RX1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: P2RX1 was set to
Bleeding and platelet disorders v0.2 NBEAL2 Louise Daugherty gene: NBEAL2 was added
gene: NBEAL2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NBEAL2 was set to
Bleeding and platelet disorders v0.2 NBEA Louise Daugherty gene: NBEA was added
gene: NBEA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NBEA was set to
Bleeding and platelet disorders v0.2 MYH9 Louise Daugherty gene: MYH9 was added
gene: MYH9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MYH9 was set to
Bleeding and platelet disorders v0.2 MKL1 Louise Daugherty gene: MKL1 was added
gene: MKL1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MKL1 was set to
Bleeding and platelet disorders v0.2 MPL Louise Daugherty gene: MPL was added
gene: MPL was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MPL was set to
Bleeding and platelet disorders v0.2 MPIG6B Louise Daugherty gene: MPIG6B was added
gene: MPIG6B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MPIG6B was set to
Bleeding and platelet disorders v0.2 MECOM Louise Daugherty gene: MECOM was added
gene: MECOM was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MECOM was set to
Bleeding and platelet disorders v0.2 MCFD2 Louise Daugherty gene: MCFD2 was added
gene: MCFD2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MCFD2 was set to
Bleeding and platelet disorders v0.2 LYST Louise Daugherty gene: LYST was added
gene: LYST was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LYST was set to
Bleeding and platelet disorders v0.2 LMAN1 Louise Daugherty gene: LMAN1 was added
gene: LMAN1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LMAN1 was set to
Bleeding and platelet disorders v0.2 KNG1 Louise Daugherty gene: KNG1 was added
gene: KNG1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KNG1 was set to
Bleeding and platelet disorders v0.2 KLKB1 Louise Daugherty gene: KLKB1 was added
gene: KLKB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KLKB1 was set to
Bleeding and platelet disorders v0.2 KDSR Louise Daugherty gene: KDSR was added
gene: KDSR was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KDSR was set to
Bleeding and platelet disorders v0.2 ITGB3 Louise Daugherty gene: ITGB3 was added
gene: ITGB3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ITGB3 was set to
Bleeding and platelet disorders v0.2 ITGA2B Louise Daugherty gene: ITGA2B was added
gene: ITGA2B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ITGA2B was set to
Bleeding and platelet disorders v0.2 ITGA2 Louise Daugherty gene: ITGA2 was added
gene: ITGA2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ITGA2 was set to
Bleeding and platelet disorders v0.2 HPS6 Louise Daugherty gene: HPS6 was added
gene: HPS6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS6 was set to
Bleeding and platelet disorders v0.2 HPS5 Louise Daugherty gene: HPS5 was added
gene: HPS5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS5 was set to
Bleeding and platelet disorders v0.2 HPS4 Louise Daugherty gene: HPS4 was added
gene: HPS4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS4 was set to
Bleeding and platelet disorders v0.2 HPS3 Louise Daugherty gene: HPS3 was added
gene: HPS3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS3 was set to
Bleeding and platelet disorders v0.2 HPS1 Louise Daugherty gene: HPS1 was added
gene: HPS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS1 was set to
Bleeding and platelet disorders v0.2 HOXA11 Louise Daugherty gene: HOXA11 was added
gene: HOXA11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HOXA11 was set to
Bleeding and platelet disorders v0.2 GP9 Louise Daugherty gene: GP9 was added
gene: GP9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP9 was set to
Bleeding and platelet disorders v0.2 GP6 Louise Daugherty gene: GP6 was added
gene: GP6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP6 was set to
Bleeding and platelet disorders v0.2 GP1BB Louise Daugherty gene: GP1BB was added
gene: GP1BB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP1BB was set to
Bleeding and platelet disorders v0.2 GP1BA Louise Daugherty gene: GP1BA was added
gene: GP1BA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP1BA was set to
Bleeding and platelet disorders v0.2 GNE Louise Daugherty gene: GNE was added
gene: GNE was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GNE was set to
Bleeding and platelet disorders v0.2 GGCX Louise Daugherty gene: GGCX was added
gene: GGCX was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GGCX was set to
Bleeding and platelet disorders v0.2 GFI1B Louise Daugherty gene: GFI1B was added
gene: GFI1B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GFI1B was set to
Bleeding and platelet disorders v0.2 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GBA was set to
Bleeding and platelet disorders v0.2 GATA1 Louise Daugherty gene: GATA1 was added
gene: GATA1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GATA1 was set to
Bleeding and platelet disorders v0.2 GALE Louise Daugherty gene: GALE was added
gene: GALE was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GALE was set to
Bleeding and platelet disorders v0.2 FYB1 Louise Daugherty gene: FYB1 was added
gene: FYB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FYB1 was set to
Bleeding and platelet disorders v0.2 FLNA Louise Daugherty gene: FLNA was added
gene: FLNA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FLNA was set to
Bleeding and platelet disorders v0.2 FLI1 Louise Daugherty gene: FLI1 was added
gene: FLI1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FLI1 was set to
Bleeding and platelet disorders v0.2 FGG Louise Daugherty gene: FGG was added
gene: FGG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGG was set to
Bleeding and platelet disorders v0.2 FGB Louise Daugherty gene: FGB was added
gene: FGB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGB was set to
Bleeding and platelet disorders v0.2 FGA Louise Daugherty gene: FGA was added
gene: FGA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGA was set to
Bleeding and platelet disorders v0.2 FERMT3 Louise Daugherty gene: FERMT3 was added
gene: FERMT3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FERMT3 was set to
Bleeding and platelet disorders v0.2 F9 Louise Daugherty gene: F9 was added
gene: F9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F9 was set to
Bleeding and platelet disorders v0.2 F8 Louise Daugherty gene: F8 was added
gene: F8 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F8 was set to
Bleeding and platelet disorders v0.2 F7 Louise Daugherty gene: F7 was added
gene: F7 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F7 was set to
Bleeding and platelet disorders v0.2 F5 Louise Daugherty gene: F5 was added
gene: F5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F5 was set to
Bleeding and platelet disorders v0.2 F2R Louise Daugherty gene: F2R was added
gene: F2R was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F2R was set to
Bleeding and platelet disorders v0.2 F13B Louise Daugherty gene: F13B was added
gene: F13B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F13B was set to
Bleeding and platelet disorders v0.2 F13A1 Louise Daugherty gene: F13A1 was added
gene: F13A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F13A1 was set to
Bleeding and platelet disorders v0.2 F12 Louise Daugherty gene: F12 was added
gene: F12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F12 was set to
Bleeding and platelet disorders v0.2 F11 Louise Daugherty gene: F11 was added
gene: F11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F11 was set to
Bleeding and platelet disorders v0.2 F10 Louise Daugherty gene: F10 was added
gene: F10 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F10 was set to
Bleeding and platelet disorders v0.2 ETV6 Louise Daugherty gene: ETV6 was added
gene: ETV6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ETV6 was set to
Bleeding and platelet disorders v0.2 EPHB2 Louise Daugherty gene: EPHB2 was added
gene: EPHB2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: EPHB2 was set to
Bleeding and platelet disorders v0.2 ENG Louise Daugherty gene: ENG was added
gene: ENG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ENG was set to
Bleeding and platelet disorders v0.2 DTNBP1 Louise Daugherty gene: DTNBP1 was added
gene: DTNBP1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DTNBP1 was set to
Bleeding and platelet disorders v0.2 DIAPH1 Louise Daugherty gene: DIAPH1 was added
gene: DIAPH1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DIAPH1 was set to
Bleeding and platelet disorders v0.2 CYCS Louise Daugherty gene: CYCS was added
gene: CYCS was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CYCS was set to
Bleeding and platelet disorders v0.2 COL5A2 Louise Daugherty gene: COL5A2 was added
gene: COL5A2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COL5A2 was set to
Bleeding and platelet disorders v0.2 COL5A1 Louise Daugherty gene: COL5A1 was added
gene: COL5A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COL5A1 was set to
Bleeding and platelet disorders v0.2 COL3A1 Louise Daugherty gene: COL3A1 was added
gene: COL3A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COL3A1 was set to
Bleeding and platelet disorders v0.2 COL1A1 Louise Daugherty gene: COL1A1 was added
gene: COL1A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COL1A1 was set to
Bleeding and platelet disorders v0.2 CHST14 Louise Daugherty gene: CHST14 was added
gene: CHST14 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CHST14 was set to
Bleeding and platelet disorders v0.2 CDC42 Louise Daugherty gene: CDC42 was added
gene: CDC42 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CDC42 was set to
Bleeding and platelet disorders v0.2 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BLOC1S6 was set to
Bleeding and platelet disorders v0.2 BLOC1S3 Louise Daugherty gene: BLOC1S3 was added
gene: BLOC1S3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BLOC1S3 was set to
Bleeding and platelet disorders v0.2 ARPC1B Louise Daugherty gene: ARPC1B was added
gene: ARPC1B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ARPC1B was set to
Bleeding and platelet disorders v0.2 AP3D1 Louise Daugherty gene: AP3D1 was added
gene: AP3D1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: AP3D1 was set to
Bleeding and platelet disorders v0.2 AP3B1 Louise Daugherty gene: AP3B1 was added
gene: AP3B1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: AP3B1 was set to
Bleeding and platelet disorders v0.2 ANO6 Louise Daugherty gene: ANO6 was added
gene: ANO6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ANO6 was set to
Bleeding and platelet disorders v0.2 ANKRD26 Louise Daugherty gene: ANKRD26 was added
gene: ANKRD26 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ANKRD26 was set to
Bleeding and platelet disorders v0.2 ADAMTS13 Louise Daugherty gene: ADAMTS13 was added
gene: ADAMTS13 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ADAMTS13 was set to
Bleeding and platelet disorders v0.2 ACVRL1 Louise Daugherty gene: ACVRL1 was added
gene: ACVRL1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ACVRL1 was set to
Bleeding and platelet disorders v0.2 ACTN1 Louise Daugherty gene: ACTN1 was added
gene: ACTN1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ACTN1 was set to
Bleeding and platelet disorders v0.2 ACTB Louise Daugherty gene: ACTB was added
gene: ACTB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ACTB was set to
Bleeding and platelet disorders v0.2 ABCG8 Louise Daugherty gene: ABCG8 was added
gene: ABCG8 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ABCG8 was set to
Bleeding and platelet disorders v0.2 ABCG5 Louise Daugherty gene: ABCG5 was added
gene: ABCG5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ABCG5 was set to
Anophthalmia or microphthalmia v1.16 PAX2 Richard Scott gene: PAX2 was added
gene: PAX2 was added to Anophthalmia or microphthalmia. Sources: Expert list
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX2 were set to 22213154; 10533062
Phenotypes for gene: PAX2 were set to 120330
Penetrance for gene: PAX2 were set to Incomplete
Review for gene: PAX2 was set to GREEN
gene: PAX2 was marked as current diagnostic
Added comment: Sources: Expert list
Mosaic skin disorders - deep sequencing v0.6 Rebecca Foulger removed gene:RHOA from the panel
Pigmentary skin disorders v0.6 Rebecca Foulger removed gene:MAP2K1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C11orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C11orf70.
Laterality disorders and isomerism v0.21 C11orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C11orf70.
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C11orf70 Louise Daugherty commented on gene: C11orf70: New HGNC approved gene symbol for C11orf70 is CFAP300
Laterality disorders and isomerism v0.21 C11orf70 Louise Daugherty commented on gene: C11orf70: New HGNC approved gene symbol for C11orf70 is CFAP300
Combined factor V and VIII deficiency v0.6 MCFD2 Louise Daugherty reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Combined factor V and VIII deficiency v0.6 LMAN1 Louise Daugherty reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Combined factor V and VIII deficiency v0.5 MCFD2 Carl Fratter reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Combined factor V and VIII deficiency v0.5 LMAN1 Carl Fratter reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Combined factor V and VIII deficiency v0.4 MCFD2 Louise Daugherty Source NHS GMS was added to MCFD2.
Combined factor V and VIII deficiency v0.4 LMAN1 Louise Daugherty Source NHS GMS was added to LMAN1.
Combined factor V and VIII deficiency v0.3 MCFD2 Louise Daugherty Source Expert Review Green was added to MCFD2.
Mode of inheritance for gene MCFD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Factor V and factor VIII, combined deficiency of, 613625 for gene: MCFD2
Publications for gene MCFD2 were changed from to 20004600; 12717434; 16304051
Rating Changed from Red List (low evidence) to Green List (high evidence)
Combined factor V and VIII deficiency v0.3 LMAN1 Louise Daugherty Source Expert Review Green was added to LMAN1.
Mode of inheritance for gene LMAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined factor V and VIII deficiency, 227300 for gene: LMAN1
Publications for gene LMAN1 were changed from to 10090934; 10090935; 16304051
Rating Changed from Red List (low evidence) to Green List (high evidence)
Combined factor V and VIII deficiency v0.2 MCFD2 Louise Daugherty gene: MCFD2 was added
gene: MCFD2 was added to Combined factor V and VIII deficiency. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MCFD2 was set to
Combined factor V and VIII deficiency v0.2 LMAN1 Louise Daugherty gene: LMAN1 was added
gene: LMAN1 was added to Combined factor V and VIII deficiency. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LMAN1 was set to
Possible mitochondrial disorder - nuclear genes v0.5 XPNPEP3 Ivone Leong reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis-like nephropathy 1, 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 WFS1 Ivone Leong reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300, Wolfram-like syndrome, autosomal dominant, 614296, Deafness, autosomal dominant 6/14/38, 600965; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 VPS13C Ivone Leong reviewed gene: VPS13C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRAP1 Ivone Leong reviewed gene: TRAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 7, 612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TANGO2 Ivone Leong reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SUCLG2 Ivone Leong reviewed gene: SUCLG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 STAT2 Ivone Leong reviewed gene: STAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 44, 616636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SSBP1 Ivone Leong reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SRRT Ivone Leong reviewed gene: SRRT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SLC52A3 Ivone Leong reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC52A2 Ivone Leong reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A40 Ivone Leong reviewed gene: SLC25A40: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A20 Ivone Leong reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A13 Ivone Leong reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Citrullinemia, adult-onset type II, 603471, Citrullinemia, type II, neonatal-onset 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC22A5 Ivone Leong reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SAMHD1 Ivone Leong reviewed gene: SAMHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ROBO3 Ivone Leong reviewed gene: ROBO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 QARS Ivone Leong reviewed gene: QARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PYCR1 Ivone Leong reviewed gene: PYCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB, 612940, Cutis laxa, autosomal recessive, type IIIB, 614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PPOX Ivone Leong reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Porphyria variegata, 176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 PNPLA4 Ivone Leong reviewed gene: PNPLA4: Rating: RED; Mode of pathogenicity: ; Publications: 26741492; Phenotypes: No OMIM phenotype; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 PITRM1 Ivone Leong reviewed gene: PITRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 PDPR Ivone Leong reviewed gene: PDPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 PDP2 Ivone Leong reviewed gene: PDP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 PDK3 Ivone Leong reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 PANK2 Ivone Leong reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, 234200, HARP syndrome, 607236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OXCT1 Ivone Leong reviewed gene: OXCT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 L2HGDH Ivone Leong reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria, 236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IER3IP1 Ivone Leong reviewed gene: IER3IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HTT Ivone Leong reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease, 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 HSPA9 Ivone Leong reviewed gene: HSPA9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 4, 182170, Even-plus syndrome, 616854, Also Parkinson disease association?; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HMGCS2 Ivone Leong reviewed gene: HMGCS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA synthase-2 deficiency, 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HMGCL Ivone Leong reviewed gene: HMGCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA lyase deficiency, 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HADHB Ivone Leong reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Trifunctional protein deficiency, 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HADHA Ivone Leong reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LCHAD deficiency, 609016, Trifunctional protein deficiency, 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HADH Ivone Leong reviewed gene: HADH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530, Hyperinsulinemic hypoglycemia, familial, 4, 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GLUD1 Ivone Leong reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, 606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 GATM Ivone Leong reviewed gene: GATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 3, 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 G6PC Ivone Leong reviewed gene: G6PC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease Ia, 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FXN Ivone Leong reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETFB Ivone Leong reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glutaric acidemia IIB ,231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETFA Ivone Leong reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glutaric acidemia IIA ,231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DHTKD1 Ivone Leong reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria, 204750, ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DCC Ivone Leong reviewed gene: DCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542, Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DARS Ivone Leong reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 D2HGDH Ivone Leong reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, 600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CYCS Ivone Leong reviewed gene: CYCS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia 4, 612004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 CPT2 Ivone Leong reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CPT II deficiency, myopathic, stress-induced, 255110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CPT1A Ivone Leong reviewed gene: CPT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CPT deficiency, hepatic, type IA, 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COASY Ivone Leong reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 6, 615643, Pontocerebellar hypoplasia, type 12, 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CISD2 Ivone Leong reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 2, 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CHKB Ivone Leong reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C19orf12 Ivone Leong reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, 614298, ?Spastic paraplegia 43, autosomal recessive, 615043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACAT1 Ivone Leong reviewed gene: ACAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADVL Ivone Leong reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: VLCAD deficiency, 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADSB Ivone Leong reviewed gene: ACADSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADS Ivone Leong reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADM Ivone Leong reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMM44 Ivone Leong reviewed gene: TIMM44: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A32 Ivone Leong reviewed gene: SLC25A32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Exercise intolerance, riboflavin-responsive, 616839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A22 Ivone Leong reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 3, 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A21 Ivone Leong reviewed gene: SLC25A21: Rating: AMBER; Mode of pathogenicity: ; Publications: 29517768; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PNPLA8 Ivone Leong reviewed gene: PNPLA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 29681094, 25473036, 25512002; Phenotypes: ?Mitochondrial myopathy with lactic acidosis, 251950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NNT Ivone Leong reviewed gene: NNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ7 Ivone Leong reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: ; Publications: 28409910; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8 616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ5 Ivone Leong reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: 29044765; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 YME1L1 Ivone Leong reviewed gene: YME1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Optic atrophy 11, 617302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 YARS2 Ivone Leong reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 WARS2 Ivone Leong reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 VARS2 Ivone Leong reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 20, 615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCRQ Ivone Leong reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCRH Ivone Leong reviewed gene: UQCRH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCRFS1 Ivone Leong reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCRC2 Ivone Leong reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCRC1 Ivone Leong reviewed gene: UQCRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCRB Ivone Leong reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCR11 Ivone Leong reviewed gene: UQCR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCR10 Ivone Leong reviewed gene: UQCR10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCC3 Ivone Leong reviewed gene: UQCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCC2 Ivone Leong reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCC1 Ivone Leong reviewed gene: UQCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 TYMP Ivone Leong reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TXN2 Ivone Leong reviewed gene: TXN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 29, 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TWNK Ivone Leong reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TUFM Ivone Leong reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, 610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TTC19 Ivone Leong reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TSFM Ivone Leong reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRNT1 Ivone Leong reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRMU Ivone Leong reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIVER FAILURE, INFANTILE, TRANSIENT, 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRMT5 Ivone Leong reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 26, 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRMT10C Ivone Leong reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 30, 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRIT1 Ivone Leong reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 35, 617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TPK1 Ivone Leong reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TOP3A Ivone Leong reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290614; Phenotypes: ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TMEM70 Ivone Leong reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TMEM65 Ivone Leong reviewed gene: TMEM65: Rating: GREEN; Mode of pathogenicity: ; Publications: 28295037; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TMEM126B Ivone Leong reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TK2 Ivone Leong reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937588; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMMDC1 Ivone Leong reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMM8A Ivone Leong reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 TIMM50 Ivone Leong reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type IX, 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMM22 Ivone Leong reviewed gene: TIMM22: Rating: GREEN; Mode of pathogenicity: ; Publications: 30452684; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TFAM Ivone Leong reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TAZ Ivone Leong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Barth syndrome, 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 TARS2 Ivone Leong reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 21, 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TACO1 Ivone Leong reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SURF1 Ivone Leong reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, due to COX IV deficiency, 256000, Charcot-Marie-Tooth disease, type 4K, 616684; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SUCLG1 Ivone Leong reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SUCLA2 Ivone Leong reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SPG7 Ivone Leong reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24727571; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A46 Ivone Leong reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A42 Ivone Leong reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 26541337, 29327420, 29923093; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A4 Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A38 Ivone Leong reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A3 Ivone Leong reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial phosphate carrier deficiency, 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A26 Ivone Leong reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A19 Ivone Leong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710, MICROCEPHALY, AMISH TYPE, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A12 Ivone Leong reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 39, 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A1 Ivone Leong reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182, ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC19A3 Ivone Leong reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SFXN4 Ivone Leong reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, 615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SERAC1 Ivone Leong reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHD Ivone Leong reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHC Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHB Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF4 Ivone Leong reviewed gene: SDHAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF3 Ivone Leong reviewed gene: SDHAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF2 Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF1 Ivone Leong reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHA Ivone Leong reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SCO2 Ivone Leong reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SCO1 Ivone Leong reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SARS2 Ivone Leong reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SACS Ivone Leong reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550; Mode of inheritance: BiALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RTN4IP1 Ivone Leong reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RRM2B Ivone Leong reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RNASEH1 Ivone Leong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RMND1 Ivone Leong reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11, 614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RARS2 Ivone Leong reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 6, 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 QRSL1 Ivone Leong reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26741492, 30283131; Phenotypes: Mitochondrial cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PUS1 Ivone Leong reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PTCD3 Ivone Leong reviewed gene: PTCD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30607703; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PPA2 Ivone Leong reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523597; Phenotypes: Sudden cardiac failure, infantile, 617222, ?Sudden cardiac failure, alcohol-induced, 617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 POLG2 Ivone Leong reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157269; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131, Mitochondrial DNA depletion syndrome, NA; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 POLG Ivone Leong reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PNPT1 Ivone Leong reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, 614932, Deafness, autosomal recessive 70, 614934; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PMPCB Ivone Leong reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PMPCA Ivone Leong reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PET117 Ivone Leong reviewed gene: PET117: Rating: GREEN; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PET100 Ivone Leong reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDSS2 Ivone Leong reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 3, 614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDSS1 Ivone Leong reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22494076; Phenotypes: Coenzyme Q10 deficiency, primary, 2, 614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDP1 Ivone Leong reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDHX Ivone Leong reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDHB Ivone Leong reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15138885, 18164639, 19924563; Phenotypes: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDHA1 Ivone Leong reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 PC Ivone Leong reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PARS2 Ivone Leong reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27290639, 28077841, 29915213, 25629079; Phenotypes: Infantile-onset neurodegenerative disorder, Infantile-onset encephalopathy, Alpers syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OXA1L Ivone Leong reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OPA3 Ivone Leong reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Optic atrophy 3 with cataract, 165300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OPA1 Ivone Leong reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250 ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NUBPL Ivone Leong reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NSUN3 Ivone Leong reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27356879; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NFU1 Ivone Leong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NFS1 Ivone Leong reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Infantile mitochondrial complex II/III deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFV3 Ivone Leong reviewed gene: NDUFV3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFV2 Ivone Leong reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, 618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFV1 Ivone Leong reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4, 618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS8 Ivone Leong reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2, 618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS7 Ivone Leong reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, 618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS6 Ivone Leong reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS5 Ivone Leong reviewed gene: NDUFS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS4 Ivone Leong reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS3 Ivone Leong reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS2 Ivone Leong reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS1 Ivone Leong reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFC2 Ivone Leong reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFC1 Ivone Leong reviewed gene: NDUFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB9 Ivone Leong reviewed gene: NDUFB9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 24, 618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB8 Ivone Leong reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB7 Ivone Leong reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB6 Ivone Leong reviewed gene: NDUFB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB5 Ivone Leong reviewed gene: NDUFB5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB4 Ivone Leong reviewed gene: NDUFB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB3 Ivone Leong reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, 618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB2 Ivone Leong reviewed gene: NDUFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB11 Ivone Leong reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB10 Ivone Leong reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB1 Ivone Leong reviewed gene: NDUFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF8 Ivone Leong reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF7 Ivone Leong reviewed gene: NDUFAF7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF6 Ivone Leong reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, 612392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF5 Ivone Leong reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, 616238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF4 Ivone Leong reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, 618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF3 Ivone Leong reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, 618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF2 Ivone Leong reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, 618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF1 Ivone Leong reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, 618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAB1 Ivone Leong reviewed gene: NDUFAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA9 Ivone Leong reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA8 Ivone Leong reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA7 Ivone Leong reviewed gene: NDUFA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA6 Ivone Leong reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA5 Ivone Leong reviewed gene: NDUFA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA4 Ivone Leong reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA3 Ivone Leong reviewed gene: NDUFA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA2 Ivone Leong reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA13 Ivone Leong reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA12 Ivone Leong reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA11 Ivone Leong reviewed gene: NDUFA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, 618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA10 Ivone Leong reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA1 Ivone Leong reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 NAXE Ivone Leong reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NARS2 Ivone Leong reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 24, 616239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NADK2 Ivone Leong reviewed gene: NADK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29388319; Phenotypes: ?2,4-dienoyl-CoA reductase deficiency, 616034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MTPAP Ivone Leong reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27391121, 27959697; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MTO1 Ivone Leong reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 10, 614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MTFMT Ivone Leong reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, 614947, Mitochondrial complex I deficiency, nuclear type 27, 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MSTO1 Ivone Leong reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS7 Ivone Leong reviewed gene: MRPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 34, 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS34 Ivone Leong reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 32, 617664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS23 Ivone Leong reviewed gene: MRPS23: Rating: GREEN; Mode of pathogenicity: ; Publications: 26741492; Phenotypes: Hepatic disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS22 Ivone Leong reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5, 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS2 Ivone Leong reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS16 Ivone Leong reviewed gene: MRPS16: Rating: GREEN; Mode of pathogenicity: ; Publications: 28749478, 15505824 ; Phenotypes: Combined oxidative phosphorylation deficiency 2, 610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS14 Ivone Leong reviewed gene: MRPS14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30358850; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPL44 Ivone Leong reviewed gene: MRPL44: Rating: GREEN; Mode of pathogenicity: ; Publications: 25797485, 23315540; Phenotypes: ?Combined oxidative phosphorylation deficiency 16, 615395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPL3 Ivone Leong reviewed gene: MRPL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27815843, 21786366 ; Phenotypes: Combined oxidative phosphorylation deficiency 9, 614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPL12 Ivone Leong reviewed gene: MRPL12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23603806; Phenotypes: Growth retardation and neurological deterioration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRM2 Ivone Leong reviewed gene: MRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28973171; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MPV17 Ivone Leong reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MPC1 Ivone Leong reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22628558; Phenotypes: Lactic acidosis and hyperpyruvatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MIPEP Ivone Leong reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27799064; Phenotypes: Combined oxidative phosphorylation deficiency 31, 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MICU1 Ivone Leong reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy with extrapyramidal signs, 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C19orf70 Ivone Leong edited their review of gene: C19orf70: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed publications: 29618761, 27623147, 27485409; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MGME1 Ivone Leong reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MFN2 Ivone Leong reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22189565, 22556188; Phenotypes: Optic atrophy plus, Mitochondrial DNA depletion syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MFF Ivone Leong reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MECR Ivone Leong reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MDH2 Ivone Leong reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 51, 617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MARS2 Ivone Leong reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 25, 616430, Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LYRM7 Ivone Leong reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29353736; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, 615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LYRM4 Ivone Leong reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23814038; Phenotypes: ?Combined oxidative phosphorylation deficiency 19, 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LRPPRC Ivone Leong reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, French-Canadian type, 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LONP1 Ivone Leong reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CODAS syndrome, 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LIPT2 Ivone Leong reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 28803783; Phenotypes: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LIPT1 Ivone Leong reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIPOYLTRANSFERASE 1 DEFICIENCY, 616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LIAS Ivone Leong reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LARS2 Ivone Leong reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021, Perrault syndrome 4, 615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 KARS Ivone Leong reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ISCU Ivone Leong reviewed gene: ISCU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy with lactic acidosis, hereditary, 255125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ISCA2 Ivone Leong reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ISCA1 Ivone Leong reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28356563, 29767723; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IDH3B Ivone Leong reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 46, 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IDH3A Ivone Leong reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28412069, 28058510; Phenotypes: Retinitis pigmentosa with macular pseudocoloboma, Infantile encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IBA57 Ivone Leong reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IARS2 Ivone Leong reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HTRA2 Ivone Leong reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type VIII, 617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HSPD1 Ivone Leong reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 4, 612233, Spastic paraplegia 13, autosomal dominant 605280; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HSD17B10 Ivone Leong reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HSD10 mitochondrial disease, 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 HLCS Ivone Leong reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HIBCH Ivone Leong reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HCCS Ivone Leong reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 HARS2 Ivone Leong reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Perrault syndrome 2, 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GTPBP3 Ivone Leong reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23, 61698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GLRX5 Ivone Leong reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GFM2 Ivone Leong reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29075935; Phenotypes: Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GFM1 Ivone Leong reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, 609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GFER Ivone Leong reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GDAP1 Ivone Leong reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, 607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706, Charcot-Marie-Tooth disease, recessive intermediate, A, 608340, Charcot-Marie-Tooth disease, type 4A, 214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GATC Ivone Leong reviewed gene: GATC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GATB Ivone Leong reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GARS Ivone Leong reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2D, 601472, Neuropathy, distal hereditary motor, type VA, 600794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 FOXRED1 Ivone Leong reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FLAD1 Ivone Leong reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FH Ivone Leong reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fumarase deficiency, 606812, Leiomyomatosis and renal cell cancer, 150800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FDXR Ivone Leong reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Auditory neuropathy and optic atrophy, 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FDX2 Ivone Leong reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24281368, 28803783, 30010796; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FBXL4 Ivone Leong reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FASTKD2 Ivone Leong reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28499982; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FARS2 Ivone Leong reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 14, 614946, Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETHE1 Ivone Leong reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ethylmalonic encephalopathy, 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETFDH Ivone Leong reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glutaric acidemia IIC, 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ERAL1 Ivone Leong reviewed gene: ERAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perrault syndrome 6, 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ELAC2 Ivone Leong reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ECSIT Ivone Leong reviewed gene: ECSIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ECHS1 Ivone Leong reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 EARS2 Ivone Leong reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DNM2 Ivone Leong reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Centronuclear myopathy 1, 160150, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 DNM1L Ivone Leong reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388, Optic atrophy 5, 610708; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DNAJC19 Ivone Leong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V, 610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DNA2 Ivone Leong reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23352259; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 DLD Ivone Leong reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DLAT Ivone Leong reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DGUOK Ivone Leong reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DARS2 Ivone Leong reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CYC1 Ivone Leong reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX8A Ivone Leong reviewed gene: COX8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX7C Ivone Leong reviewed gene: COX7C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX7B Ivone Leong reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 2, 300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 COX7A1 Ivone Leong reviewed gene: COX7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6C Ivone Leong reviewed gene: COX6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6B2 Ivone Leong reviewed gene: COX6B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6B1 Ivone Leong reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX6A2 Ivone Leong reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6A1 Ivone Leong reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate D, 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX5B Ivone Leong reviewed gene: COX5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX5A Ivone Leong reviewed gene: COX5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: Pulmonary arterial hypertension, lactic acidemia, and failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX4I2 Ivone Leong reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX4I1 Ivone Leong reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX20 Ivone Leong reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX19 Ivone Leong reviewed gene: COX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX18 Ivone Leong reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX17 Ivone Leong reviewed gene: COX17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX16 Ivone Leong reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX15 Ivone Leong reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX14 Ivone Leong reviewed gene: COX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX11 Ivone Leong reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX10 Ivone Leong reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ9 Ivone Leong reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ8B Ivone Leong reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrotic syndrome, type 9, 615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ8A Ivone Leong reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 4, 612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ6 Ivone Leong reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6, 614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ4 Ivone Leong reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ2 Ivone Leong reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, 607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA7 Ivone Leong reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA6 Ivone Leong reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA5 Ivone Leong reviewed gene: COA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA4 Ivone Leong reviewed gene: COA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COA3 Ivone Leong reviewed gene: COA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604084; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA1 Ivone Leong reviewed gene: COA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 CLPP Ivone Leong reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perrault syndrome 3, 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CLPB Ivone Leong reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CHCHD10 Ivone Leong reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myopathy, isolated mitochondrial, autosomal dominant, 616209, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911, Spinal muscular atrophy, Jokela type 615048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 CEP89 Ivone Leong reviewed gene: CEP89: Rating: GREEN; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CARS2 Ivone Leong reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 27, 616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CA5A Ivone Leong reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C1QBP Ivone Leong reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 33, 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C12orf65 Ivone Leong reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 7, 613559, Spastic paraplegia 55, autosomal recessive, 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 BTD Ivone Leong reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Biotinidase deficiency, 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 BOLA3 Ivone Leong reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 BCS1L Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATPAF2 Ivone Leong reviewed gene: ATPAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATPAF1 Ivone Leong reviewed gene: ATPAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5O Ivone Leong edited their review of gene: ATP5O: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5J Ivone Leong edited their review of gene: ATP5J: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5H Ivone Leong edited their review of gene: ATP5H: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5F1 Ivone Leong edited their review of gene: ATP5F1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5L2 Ivone Leong edited their review of gene: ATP5L2: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5L Ivone Leong edited their review of gene: ATP5L: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5J2 Ivone Leong edited their review of gene: ATP5J2: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5I Ivone Leong edited their review of gene: ATP5I: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5G3 Ivone Leong edited their review of gene: ATP5G3: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5G2 Ivone Leong edited their review of gene: ATP5G2: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5G1 Ivone Leong edited their review of gene: ATP5G1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5E Ivone Leong edited their review of gene: ATP5E: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATP5D Ivone Leong edited their review of gene: ATP5D: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATP5C1 Ivone Leong edited their review of gene: ATP5C1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5B Ivone Leong edited their review of gene: ATP5B: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5A1 Ivone Leong edited their review of gene: ATP5A1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATAD3A Ivone Leong reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Harel-Yoon syndrome, 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 APTX Ivone Leong reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 APOPT1 Ivone Leong reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ANO10 Ivone Leong reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 AIFM1 Ivone Leong reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 AGK Ivone Leong reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 AFG3L2 Ivone Leong reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25420100; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACO2 Ivone Leong reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile cerebellar-retinal degeneration, 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACAD9 Ivone Leong reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ABCB7 Ivone Leong reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 ABAT Ivone Leong reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 25738457; Phenotypes: Mitochondrial DNA depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 AARS2 Ivone Leong reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy, progressive, with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 XPNPEP3 Ivone Leong gene: XPNPEP3 was added
gene: XPNPEP3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159
Possible mitochondrial disorder - nuclear genes v0.4 WFS1 Ivone Leong gene: WFS1 was added
gene: WFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome 1, 222300
Possible mitochondrial disorder - nuclear genes v0.4 VPS13C Ivone Leong gene: VPS13C was added
gene: VPS13C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset, 616840
Possible mitochondrial disorder - nuclear genes v0.4 TRAP1 Ivone Leong gene: TRAP1 was added
gene: TRAP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TRAP1 was set to Unknown
Phenotypes for gene: TRAP1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 TMEM126A Ivone Leong gene: TMEM126A was added
gene: TMEM126A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989
Possible mitochondrial disorder - nuclear genes v0.4 TANGO2 Ivone Leong gene: TANGO2 was added
gene: TANGO2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Possible mitochondrial disorder - nuclear genes v0.4 SUCLG2 Ivone Leong gene: SUCLG2 was added
gene: SUCLG2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SUCLG2 was set to Unknown
Phenotypes for gene: SUCLG2 were set to None
Possible mitochondrial disorder - nuclear genes v0.4 STAT2 Ivone Leong gene: STAT2 was added
gene: STAT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT2 were set to Immunodeficiency 44, 616636
Possible mitochondrial disorder - nuclear genes v0.4 SSBP1 Ivone Leong gene: SSBP1 was added
gene: SSBP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SSBP1 was set to Unknown
Phenotypes for gene: SSBP1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SRRT Ivone Leong gene: SRRT was added
gene: SRRT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SRRT was set to Unknown
Phenotypes for gene: SRRT were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SLC52A3 Ivone Leong gene: SLC52A3 was added
gene: SLC52A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530
Possible mitochondrial disorder - nuclear genes v0.4 SLC52A2 Ivone Leong gene: SLC52A2 was added
gene: SLC52A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A40 Ivone Leong gene: SLC25A40 was added
gene: SLC25A40 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC25A40 was set to Unknown
Phenotypes for gene: SLC25A40 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A20 Ivone Leong gene: SLC25A20 was added
gene: SLC25A20 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, 212138
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A13 Ivone Leong gene: SLC25A13 was added
gene: SLC25A13 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset 605814
Possible mitochondrial disorder - nuclear genes v0.4 SLC22A5 Ivone Leong gene: SLC22A5 was added
gene: SLC22A5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140
Possible mitochondrial disorder - nuclear genes v0.4 SAMHD1 Ivone Leong gene: SAMHD1 was added
gene: SAMHD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952
Possible mitochondrial disorder - nuclear genes v0.4 ROBO3 Ivone Leong gene: ROBO3 was added
gene: ROBO3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Possible mitochondrial disorder - nuclear genes v0.4 QARS Ivone Leong gene: QARS was added
gene: QARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
Possible mitochondrial disorder - nuclear genes v0.4 PYCR1 Ivone Leong gene: PYCR1 was added
gene: PYCR1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940
Possible mitochondrial disorder - nuclear genes v0.4 PPOX Ivone Leong gene: PPOX was added
gene: PPOX was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPOX were set to Porphyria variegata, 176200
Possible mitochondrial disorder - nuclear genes v0.4 PNPLA4 Ivone Leong gene: PNPLA4 was added
gene: PNPLA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PNPLA4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PNPLA4 were set to 26741492
Phenotypes for gene: PNPLA4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 PITRM1 Ivone Leong gene: PITRM1 was added
gene: PITRM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PITRM1 was set to Unknown
Phenotypes for gene: PITRM1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 PDPR Ivone Leong gene: PDPR was added
gene: PDPR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PDPR was set to Unknown
Phenotypes for gene: PDPR were set to None
Possible mitochondrial disorder - nuclear genes v0.4 PDP2 Ivone Leong gene: PDP2 was added
gene: PDP2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PDP2 was set to Unknown
Phenotypes for gene: PDP2 were set to None
Possible mitochondrial disorder - nuclear genes v0.4 PDK3 Ivone Leong gene: PDK3 was added
gene: PDK3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
Possible mitochondrial disorder - nuclear genes v0.4 PANK2 Ivone Leong gene: PANK2 was added
gene: PANK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to HARP syndrome, 607236; Neurodegeneration with brain iron accumulation 1, 234200
Possible mitochondrial disorder - nuclear genes v0.4 OXCT1 Ivone Leong gene: OXCT1 was added
gene: OXCT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
Possible mitochondrial disorder - nuclear genes v0.4 L2HGDH Ivone Leong gene: L2HGDH was added
gene: L2HGDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792
Possible mitochondrial disorder - nuclear genes v0.4 IER3IP1 Ivone Leong gene: IER3IP1 was added
gene: IER3IP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231
Possible mitochondrial disorder - nuclear genes v0.4 HTT Ivone Leong gene: HTT was added
gene: HTT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease, 143100
Possible mitochondrial disorder - nuclear genes v0.4 HSPA9 Ivone Leong gene: HSPA9 was added
gene: HSPA9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HSPA9 were set to Even-plus syndrome, 616854; Anemia, sideroblastic, 4, 182170; Also Parkinson disease association?
Possible mitochondrial disorder - nuclear genes v0.4 HMGCS2 Ivone Leong gene: HMGCS2 was added
gene: HMGCS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911
Possible mitochondrial disorder - nuclear genes v0.4 HMGCL Ivone Leong gene: HMGCL was added
gene: HMGCL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450
Possible mitochondrial disorder - nuclear genes v0.4 HADHB Ivone Leong gene: HADHB was added
gene: HADHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Possible mitochondrial disorder - nuclear genes v0.4 HADHA Ivone Leong gene: HADHA was added
gene: HADHA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015; LCHAD deficiency, 609016
Possible mitochondrial disorder - nuclear genes v0.4 HADH Ivone Leong gene: HADH was added
gene: HADH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, 609975; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
Possible mitochondrial disorder - nuclear genes v0.4 GLUD1 Ivone Leong gene: GLUD1 was added
gene: GLUD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762
Possible mitochondrial disorder - nuclear genes v0.4 GATM Ivone Leong gene: GATM was added
gene: GATM was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718
Possible mitochondrial disorder - nuclear genes v0.4 G6PC Ivone Leong gene: G6PC was added
gene: G6PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200
Possible mitochondrial disorder - nuclear genes v0.4 FXN Ivone Leong gene: FXN was added
gene: FXN was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, 229300
Possible mitochondrial disorder - nuclear genes v0.4 ETFB Ivone Leong gene: ETFB was added
gene: ETFB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB ,231680
Possible mitochondrial disorder - nuclear genes v0.4 ETFA Ivone Leong gene: ETFA was added
gene: ETFA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA ,231680
Possible mitochondrial disorder - nuclear genes v0.4 DHTKD1 Ivone Leong gene: DHTKD1 was added
gene: DHTKD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DHTKD1 were set to ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025; 2-aminoadipic 2-oxoadipic aciduria, 204750
Possible mitochondrial disorder - nuclear genes v0.4 DCC Ivone Leong gene: DCC was added
gene: DCC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DCC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DCC were set to Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
Possible mitochondrial disorder - nuclear genes v0.4 DARS Ivone Leong gene: DARS was added
gene: DARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Possible mitochondrial disorder - nuclear genes v0.4 D2HGDH Ivone Leong gene: D2HGDH was added
gene: D2HGDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721
Possible mitochondrial disorder - nuclear genes v0.4 CYCS Ivone Leong gene: CYCS was added
gene: CYCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004
Possible mitochondrial disorder - nuclear genes v0.4 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, 255110
Possible mitochondrial disorder - nuclear genes v0.4 CPT1A Ivone Leong gene: CPT1A was added
gene: CPT1A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120
Possible mitochondrial disorder - nuclear genes v0.4 COASY Ivone Leong gene: COASY was added
gene: COASY was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to Pontocerebellar hypoplasia, type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643
Possible mitochondrial disorder - nuclear genes v0.4 CISD2 Ivone Leong gene: CISD2 was added
gene: CISD2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928
Possible mitochondrial disorder - nuclear genes v0.4 CHKB Ivone Leong gene: CHKB was added
gene: CHKB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541
Possible mitochondrial disorder - nuclear genes v0.4 C19orf12 Ivone Leong gene: C19orf12 was added
gene: C19orf12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043
Possible mitochondrial disorder - nuclear genes v0.4 ACAT1 Ivone Leong gene: ACAT1 was added
gene: ACAT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750
Possible mitochondrial disorder - nuclear genes v0.4 ACADVL Ivone Leong gene: ACADVL was added
gene: ACADVL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475
Possible mitochondrial disorder - nuclear genes v0.4 ACADSB Ivone Leong gene: ACADSB was added
gene: ACADSB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria, 610006
Possible mitochondrial disorder - nuclear genes v0.4 ACADS Ivone Leong gene: ACADS was added
gene: ACADS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470
Possible mitochondrial disorder - nuclear genes v0.4 ACADM Ivone Leong gene: ACADM was added
gene: ACADM was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Possible mitochondrial disorder - nuclear genes v0.4 TIMM44 Ivone Leong gene: TIMM44 was added
gene: TIMM44 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TIMM44 was set to Unknown
Phenotypes for gene: TIMM44 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A32 Ivone Leong gene: SLC25A32 was added
gene: SLC25A32 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive, 616839
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A22 Ivone Leong gene: SLC25A22 was added
gene: SLC25A22 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A21 Ivone Leong gene: SLC25A21 was added
gene: SLC25A21 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A21 were set to 29517768
Phenotypes for gene: SLC25A21 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 PNPLA8 Ivone Leong gene: PNPLA8 was added
gene: PNPLA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA8 were set to 29681094; 25512002; 25473036
Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, 251950
Possible mitochondrial disorder - nuclear genes v0.4 NNT Ivone Leong gene: NNT was added
gene: NNT was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Possible mitochondrial disorder - nuclear genes v0.4 COQ7 Ivone Leong gene: COQ7 was added
gene: COQ7 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 28409910
Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8 616733
Possible mitochondrial disorder - nuclear genes v0.4 COQ5 Ivone Leong gene: COQ5 was added
gene: COQ5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 YME1L1 Ivone Leong gene: YME1L1 was added
gene: YME1L1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302
Possible mitochondrial disorder - nuclear genes v0.4 YARS2 Ivone Leong gene: YARS2 was added
gene: YARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Possible mitochondrial disorder - nuclear genes v0.4 WARS2 Ivone Leong gene: WARS2 was added
gene: WARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Possible mitochondrial disorder - nuclear genes v0.4 VARS2 Ivone Leong gene: VARS2 was added
gene: VARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917
Possible mitochondrial disorder - nuclear genes v0.4 UQCRQ Ivone Leong gene: UQCRQ was added
gene: UQCRQ was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159
Possible mitochondrial disorder - nuclear genes v0.4 UQCRH Ivone Leong gene: UQCRH was added
gene: UQCRH was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRH was set to Unknown
Phenotypes for gene: UQCRH were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCRFS1 Ivone Leong gene: UQCRFS1 was added
gene: UQCRFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRFS1 was set to Unknown
Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCRC2 Ivone Leong gene: UQCRC2 was added
gene: UQCRC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160
Possible mitochondrial disorder - nuclear genes v0.4 UQCRC1 Ivone Leong gene: UQCRC1 was added
gene: UQCRC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRC1 was set to Unknown
Phenotypes for gene: UQCRC1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCRB Ivone Leong gene: UQCRB was added
gene: UQCRB was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Possible mitochondrial disorder - nuclear genes v0.4 UQCR11 Ivone Leong gene: UQCR11 was added
gene: UQCR11 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCR11 was set to Unknown
Phenotypes for gene: UQCR11 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCR10 Ivone Leong gene: UQCR10 was added
gene: UQCR10 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCR10 was set to Unknown
Phenotypes for gene: UQCR10 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCC3 Ivone Leong gene: UQCC3 was added
gene: UQCC3 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type 9, 616111
Possible mitochondrial disorder - nuclear genes v0.4 UQCC2 Ivone Leong gene: UQCC2 was added
gene: UQCC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Possible mitochondrial disorder - nuclear genes v0.4 UQCC1 Ivone Leong gene: UQCC1 was added
gene: UQCC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCC1 was set to Unknown
Phenotypes for gene: UQCC1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 TYMP Ivone Leong gene: TYMP was added
gene: TYMP was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Possible mitochondrial disorder - nuclear genes v0.4 TXN2 Ivone Leong gene: TXN2 was added
gene: TXN2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXN2 were set to ?Combined oxidative phosphorylation deficiency 29, 616811
Possible mitochondrial disorder - nuclear genes v0.4 TWNK Ivone Leong gene: TWNK was added
gene: TWNK was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
Possible mitochondrial disorder - nuclear genes v0.4 TUFM Ivone Leong gene: TUFM was added
gene: TUFM was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678
Possible mitochondrial disorder - nuclear genes v0.4 TTC19 Ivone Leong gene: TTC19 was added
gene: TTC19 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Possible mitochondrial disorder - nuclear genes v0.4 TSFM Ivone Leong gene: TSFM was added
gene: TSFM was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505
Possible mitochondrial disorder - nuclear genes v0.4 TRNT1 Ivone Leong gene: TRNT1 was added
gene: TRNT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959
Possible mitochondrial disorder - nuclear genes v0.4 TRMU Ivone Leong gene: TRMU was added
gene: TRMU was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Possible mitochondrial disorder - nuclear genes v0.4 TRMT5 Ivone Leong gene: TRMT5 was added
gene: TRMT5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT5 were set to Combined oxidative phosphorylation deficiency 26, 616539
Possible mitochondrial disorder - nuclear genes v0.4 TRMT10C Ivone Leong gene: TRMT10C was added
gene: TRMT10C was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10C were set to Combined oxidative phosphorylation deficiency 30, 616974
Possible mitochondrial disorder - nuclear genes v0.4 TRIT1 Ivone Leong gene: TRIT1 was added
gene: TRIT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873
Possible mitochondrial disorder - nuclear genes v0.4 TPK1 Ivone Leong gene: TPK1 was added
gene: TPK1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
Possible mitochondrial disorder - nuclear genes v0.3 TOP3A Ivone Leong gene: TOP3A was added
gene: TOP3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 29290614
Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Possible mitochondrial disorder - nuclear genes v0.3 TMEM70 Ivone Leong gene: TMEM70 was added
gene: TMEM70 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Possible mitochondrial disorder - nuclear genes v0.3 TMEM65 Ivone Leong gene: TMEM65 was added
gene: TMEM65 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 TMEM126B Ivone Leong gene: TMEM126B was added
gene: TMEM126B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Possible mitochondrial disorder - nuclear genes v0.3 TK2 Ivone Leong gene: TK2 was added
gene: TK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 21937588
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Possible mitochondrial disorder - nuclear genes v0.3 TIMMDC1 Ivone Leong gene: TIMMDC1 was added
gene: TIMMDC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251
Possible mitochondrial disorder - nuclear genes v0.3 TIMM8A Ivone Leong gene: TIMM8A was added
gene: TIMM8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, 304700
Possible mitochondrial disorder - nuclear genes v0.3 TIMM50 Ivone Leong gene: TIMM50 was added
gene: TIMM50 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX, 617698
Possible mitochondrial disorder - nuclear genes v0.3 TIMM22 Ivone Leong gene: TIMM22 was added
gene: TIMM22 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 TFAM Ivone Leong gene: TFAM was added
gene: TFAM was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789
Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Possible mitochondrial disorder - nuclear genes v0.3 TAZ Ivone Leong gene: TAZ was added
gene: TAZ was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060
Possible mitochondrial disorder - nuclear genes v0.3 TARS2 Ivone Leong gene: TARS2 was added
gene: TARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TARS2 were set to ?Combined oxidative phosphorylation deficiency 21, 615918
Possible mitochondrial disorder - nuclear genes v0.3 TACO1 Ivone Leong gene: TACO1 was added
gene: TACO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.3 SURF1 Ivone Leong gene: SURF1 was added
gene: SURF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Possible mitochondrial disorder - nuclear genes v0.3 SUCLG1 Ivone Leong gene: SUCLG1 was added
gene: SUCLG1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Possible mitochondrial disorder - nuclear genes v0.3 SUCLA2 Ivone Leong gene: SUCLA2 was added
gene: SUCLA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Possible mitochondrial disorder - nuclear genes v0.3 SPG7 Ivone Leong gene: SPG7 was added
gene: SPG7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 24727571
Phenotypes for gene: SPG7 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A46 Ivone Leong gene: SLC25A46 was added
gene: SLC25A46 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A42 Ivone Leong gene: SLC25A42 was added
gene: SLC25A42 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 26541337; 29923093; 29327420
Phenotypes for gene: SLC25A42 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A4 Ivone Leong gene: SLC25A4 was added
gene: SLC25A4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27693233
Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A38 Ivone Leong gene: SLC25A38 was added
gene: SLC25A38 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A3 Ivone Leong gene: SLC25A3 was added
gene: SLC25A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A26 Ivone Leong gene: SLC25A26 was added
gene: SLC25A26 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A19 Ivone Leong gene: SLC25A19 was added
gene: SLC25A19 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A12 Ivone Leong gene: SLC25A12 was added
gene: SLC25A12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Epileptic encephalopathy, early infantile, 39, 612949
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A1 Ivone Leong gene: SLC25A1 was added
gene: SLC25A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Possible mitochondrial disorder - nuclear genes v0.3 SLC19A3 Ivone Leong gene: SLC19A3 was added
gene: SLC19A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483
Possible mitochondrial disorder - nuclear genes v0.3 SLC19A2 Ivone Leong gene: SLC19A2 was added
gene: SLC19A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Possible mitochondrial disorder - nuclear genes v0.3 SFXN4 Ivone Leong gene: SFXN4 was added
gene: SFXN4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFXN4 were set to 24119684
Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, 615578
Possible mitochondrial disorder - nuclear genes v0.3 SERAC1 Ivone Leong gene: SERAC1 was added
gene: SERAC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Possible mitochondrial disorder - nuclear genes v0.3 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Possible mitochondrial disorder - nuclear genes v0.3 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHC was set to Unknown
Phenotypes for gene: SDHC were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHB were set to 22972948
Phenotypes for gene: SDHB were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF4 Ivone Leong gene: SDHAF4 was added
gene: SDHAF4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF4 was set to Unknown
Phenotypes for gene: SDHAF4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF3 Ivone Leong gene: SDHAF3 was added
gene: SDHAF3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF3 was set to Unknown
Phenotypes for gene: SDHAF3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF2 was set to Unknown
Phenotypes for gene: SDHAF2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF1 Ivone Leong gene: SDHAF1 was added
gene: SDHAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Possible mitochondrial disorder - nuclear genes v0.3 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000
Possible mitochondrial disorder - nuclear genes v0.3 SCO2 Ivone Leong gene: SCO2 was added
gene: SCO2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Possible mitochondrial disorder - nuclear genes v0.3 SCO1 Ivone Leong gene: SCO1 was added
gene: SCO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.3 SARS2 Ivone Leong gene: SARS2 was added
gene: SARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Possible mitochondrial disorder - nuclear genes v0.3 SACS Ivone Leong gene: SACS was added
gene: SACS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SACS was set to BiALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550
Possible mitochondrial disorder - nuclear genes v0.3 RTN4IP1 Ivone Leong gene: RTN4IP1 was added
gene: RTN4IP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732
Possible mitochondrial disorder - nuclear genes v0.3 RRM2B Ivone Leong gene: RRM2B was added
gene: RRM2B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Possible mitochondrial disorder - nuclear genes v0.3 RNASEH1 Ivone Leong gene: RNASEH1 was added
gene: RNASEH1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Possible mitochondrial disorder - nuclear genes v0.3 RMND1 Ivone Leong gene: RMND1 was added
gene: RMND1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922
Possible mitochondrial disorder - nuclear genes v0.3 RARS2 Ivone Leong gene: RARS2 was added
gene: RARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523
Possible mitochondrial disorder - nuclear genes v0.3 QRSL1 Ivone Leong gene: QRSL1 was added
gene: QRSL1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QRSL1 were set to 30283131; 26741492
Phenotypes for gene: QRSL1 were set to Mitochondrial cardiomyopathy
Possible mitochondrial disorder - nuclear genes v0.3 PUS1 Ivone Leong gene: PUS1 was added
gene: PUS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
Possible mitochondrial disorder - nuclear genes v0.3 PTCD3 Ivone Leong gene: PTCD3 was added
gene: PTCD3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703
Phenotypes for gene: PTCD3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 PPA2 Ivone Leong gene: PPA2 was added
gene: PPA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523597
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222; ?Sudden cardiac failure, alcohol-induced, 617223
Possible mitochondrial disorder - nuclear genes v0.3 POLG2 Ivone Leong gene: POLG2 was added
gene: POLG2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: POLG2 were set to 30157269
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Possible mitochondrial disorder - nuclear genes v0.3 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450
Possible mitochondrial disorder - nuclear genes v0.3 PNPT1 Ivone Leong gene: PNPT1 was added
gene: PNPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to Deafness, autosomal recessive 70, 614934; Combined oxidative phosphorylation deficiency 13, 614932
Possible mitochondrial disorder - nuclear genes v0.3 PMPCB Ivone Leong gene: PMPCB was added
gene: PMPCB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCB were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954
Possible mitochondrial disorder - nuclear genes v0.3 PMPCA Ivone Leong gene: PMPCA was added
gene: PMPCA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200
Possible mitochondrial disorder - nuclear genes v0.3 PET117 Ivone Leong gene: PET117 was added
gene: PET117 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 PET100 Ivone Leong gene: PET100 was added
gene: PET100 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.3 PDSS2 Ivone Leong gene: PDSS2 was added
gene: PDSS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, 614652
Possible mitochondrial disorder - nuclear genes v0.3 PDSS1 Ivone Leong gene: PDSS1 was added
gene: PDSS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 22494076
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651
Possible mitochondrial disorder - nuclear genes v0.3 PDP1 Ivone Leong gene: PDP1 was added
gene: PDP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Possible mitochondrial disorder - nuclear genes v0.3 PDHX Ivone Leong gene: PDHX was added
gene: PDHX was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Possible mitochondrial disorder - nuclear genes v0.3 PDHB Ivone Leong gene: PDHB was added
gene: PDHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 18164639; 15138885; 19924563
Phenotypes for gene: PDHB were set to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
Possible mitochondrial disorder - nuclear genes v0.3 PDHA1 Ivone Leong gene: PDHA1 was added
gene: PDHA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
Possible mitochondrial disorder - nuclear genes v0.3 PC Ivone Leong gene: PC was added
gene: PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150
Possible mitochondrial disorder - nuclear genes v0.3 PARS2 Ivone Leong gene: PARS2 was added
gene: PARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to 28077841; 27290639; 25629079; 29915213
Phenotypes for gene: PARS2 were set to Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder
Possible mitochondrial disorder - nuclear genes v0.3 OXA1L Ivone Leong gene: OXA1L was added
gene: OXA1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 OPA3 Ivone Leong gene: OPA3 was added
gene: OPA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300
Possible mitochondrial disorder - nuclear genes v0.3 OPA1 Ivone Leong gene: OPA1 was added
gene: OPA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250
Possible mitochondrial disorder - nuclear genes v0.3 NUBPL Ivone Leong gene: NUBPL was added
gene: NUBPL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242
Possible mitochondrial disorder - nuclear genes v0.3 NSUN3 Ivone Leong gene: NSUN3 was added
gene: NSUN3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NFU1 Ivone Leong gene: NFU1 was added
gene: NFU1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711
Possible mitochondrial disorder - nuclear genes v0.3 NFS1 Ivone Leong gene: NFS1 was added
gene: NFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFS1 were set to 24498631
Phenotypes for gene: NFS1 were set to Infantile mitochondrial complex II/III deficiency
Possible mitochondrial disorder - nuclear genes v0.3 NDUFV3 Ivone Leong gene: NDUFV3 was added
gene: NDUFV3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV3 was set to Unknown
Phenotypes for gene: NDUFV3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFV2 Ivone Leong gene: NDUFV2 was added
gene: NDUFV2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229
Possible mitochondrial disorder - nuclear genes v0.3 NDUFV1 Ivone Leong gene: NDUFV1 was added
gene: NDUFV1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS8 Ivone Leong gene: NDUFS8 was added
gene: NDUFS8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS7 Ivone Leong gene: NDUFS7 was added
gene: NDUFS7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS6 Ivone Leong gene: NDUFS6 was added
gene: NDUFS6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS5 Ivone Leong gene: NDUFS5 was added
gene: NDUFS5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS5 was set to Unknown
Phenotypes for gene: NDUFS5 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS4 Ivone Leong gene: NDUFS4 was added
gene: NDUFS4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226
Possible mitochondrial disorder - nuclear genes v0.3 NDUFC2 Ivone Leong gene: NDUFC2 was added
gene: NDUFC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFC2 was set to Unknown
Phenotypes for gene: NDUFC2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFC1 Ivone Leong gene: NDUFC1 was added
gene: NDUFC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFC1 was set to Unknown
Phenotypes for gene: NDUFC1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB9 Ivone Leong gene: NDUFB9 was added
gene: NDUFB9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency, nuclear type 24, 618245
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB8 Ivone Leong gene: NDUFB8 was added
gene: NDUFB8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB7 Ivone Leong gene: NDUFB7 was added
gene: NDUFB7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB7 was set to Unknown
Phenotypes for gene: NDUFB7 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB6 Ivone Leong gene: NDUFB6 was added
gene: NDUFB6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB6 was set to Unknown
Phenotypes for gene: NDUFB6 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB5 Ivone Leong gene: NDUFB5 was added
gene: NDUFB5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB5 was set to Unknown
Phenotypes for gene: NDUFB5 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB4 Ivone Leong gene: NDUFB4 was added
gene: NDUFB4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB4 was set to Unknown
Phenotypes for gene: NDUFB4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB3 Ivone Leong gene: NDUFB3 was added
gene: NDUFB3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5J2.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5I Ivone Leong Tag new-gene-name tag was added to gene: ATP5I.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5O Ivone Leong Tag new-gene-name tag was added to gene: ATP5O.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5O Ivone Leong commented on gene: ATP5O
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5L2.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L2 Ivone Leong commented on gene: ATP5L2
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L Ivone Leong commented on gene: ATP5L
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L Ivone Leong Tag new-gene-name tag was added to gene: ATP5L.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J2 Ivone Leong commented on gene: ATP5J2
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J Ivone Leong commented on gene: ATP5J
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J Ivone Leong Tag new-gene-name tag was added to gene: ATP5J.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5I Ivone Leong commented on gene: ATP5I
Possible mitochondrial disorder - nuclear genes v0.2 ATP5H Ivone Leong Tag new-gene-name tag was added to gene: ATP5H.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5H Ivone Leong commented on gene: ATP5H
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G3 Ivone Leong commented on gene: ATP5G3
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G3 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G3.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G2.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G2 Ivone Leong commented on gene: ATP5G2
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G1 Ivone Leong commented on gene: ATP5G1
Possible mitochondrial disorder - nuclear genes v0.2 ATP5F1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5F1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5F1 Ivone Leong commented on gene: ATP5F1
Possible mitochondrial disorder - nuclear genes v0.2 ATP5E Ivone Leong Tag new-gene-name tag was added to gene: ATP5E.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5E Ivone Leong commented on gene: ATP5E
Possible mitochondrial disorder - nuclear genes v0.2 ATP5D Ivone Leong Tag new-gene-name tag was added to gene: ATP5D.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5D Ivone Leong commented on gene: ATP5D
Possible mitochondrial disorder - nuclear genes v0.2 ATP5C1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5C1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5C1 Ivone Leong commented on gene: ATP5C1
Possible mitochondrial disorder - nuclear genes v0.2 ATP5B Ivone Leong Tag new-gene-name tag was added to gene: ATP5B.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5B Ivone Leong commented on gene: ATP5B
Possible mitochondrial disorder - nuclear genes v0.2 ATP5A1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5A1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5A1 Ivone Leong commented on gene: ATP5A1
Possible mitochondrial disorder - nuclear genes v0.2 C19orf70 Ivone Leong commented on gene: C19orf70
Possible mitochondrial disorder - nuclear genes v0.2 C19orf70 Ivone Leong Tag new-gene-name tag was added to gene: C19orf70.
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB2 Ivone Leong gene: NDUFB2 was added
gene: NDUFB2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB2 was set to Unknown
Phenotypes for gene: NDUFB2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB10 Ivone Leong gene: NDUFB10 was added
gene: NDUFB10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730
Phenotypes for gene: NDUFB10 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB1 Ivone Leong gene: NDUFB1 was added
gene: NDUFB1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB1 was set to Unknown
Phenotypes for gene: NDUFB1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF8 Ivone Leong gene: NDUFAF8 was added
gene: NDUFAF8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF7 Ivone Leong gene: NDUFAF7 was added
gene: NDUFAF7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF7 was set to Unknown
Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF6 Ivone Leong gene: NDUFAF6 was added
gene: NDUFAF6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF5 Ivone Leong gene: NDUFAF5 was added
gene: NDUFAF5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF4 Ivone Leong gene: NDUFAF4 was added
gene: NDUFAF4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF3 Ivone Leong gene: NDUFAF3 was added
gene: NDUFAF3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF2 Ivone Leong gene: NDUFAF2 was added
gene: NDUFAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF1 Ivone Leong gene: NDUFAF1 was added
gene: NDUFAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAB1 Ivone Leong gene: NDUFAB1 was added
gene: NDUFAB1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAB1 was set to Unknown
Phenotypes for gene: NDUFAB1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA9 Ivone Leong gene: NDUFA9 was added
gene: NDUFA9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA8 Ivone Leong gene: NDUFA8 was added
gene: NDUFA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA8 was set to Unknown
Phenotypes for gene: NDUFA8 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA7 Ivone Leong gene: NDUFA7 was added
gene: NDUFA7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA7 was set to Unknown
Phenotypes for gene: NDUFA7 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA6 Ivone Leong gene: NDUFA6 was added
gene: NDUFA6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA5 Ivone Leong gene: NDUFA5 was added
gene: NDUFA5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA5 was set to Unknown
Phenotypes for gene: NDUFA5 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA4 Ivone Leong gene: NDUFA4 was added
gene: NDUFA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447; 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA3 Ivone Leong gene: NDUFA3 was added
gene: NDUFA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA3 was set to Unknown
Phenotypes for gene: NDUFA3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA2 Ivone Leong gene: NDUFA2 was added
gene: NDUFA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA13 Ivone Leong gene: NDUFA13 was added
gene: NDUFA13 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA13 were set to ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA12 Ivone Leong gene: NDUFA12 was added
gene: NDUFA12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA11 Ivone Leong gene: NDUFA11 was added
gene: NDUFA11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA10 Ivone Leong gene: NDUFA10 was added
gene: NDUFA10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA1 Ivone Leong gene: NDUFA1 was added
gene: NDUFA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020
Possible mitochondrial disorder - nuclear genes v0.2 NAXE Ivone Leong gene: NAXE was added
gene: NAXE was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186
Possible mitochondrial disorder - nuclear genes v0.2 NARS2 Ivone Leong gene: NARS2 was added
gene: NARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239
Possible mitochondrial disorder - nuclear genes v0.2 NADK2 Ivone Leong gene: NADK2 was added
gene: NADK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 29388319
Phenotypes for gene: NADK2 were set to ?2,4-dienoyl-CoA reductase deficiency, 616034
Possible mitochondrial disorder - nuclear genes v0.2 MTPAP Ivone Leong gene: MTPAP was added
gene: MTPAP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 27959697; 27391121
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672
Possible mitochondrial disorder - nuclear genes v0.2 MTO1 Ivone Leong gene: MTO1 was added
gene: MTO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702
Possible mitochondrial disorder - nuclear genes v0.2 MTFMT Ivone Leong gene: MTFMT was added
gene: MTFMT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 22499348
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248
Possible mitochondrial disorder - nuclear genes v0.2 MSTO1 Ivone Leong gene: MSTO1 was added
gene: MSTO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675
Possible mitochondrial disorder - nuclear genes v0.2 MRPS7 Ivone Leong gene: MRPS7 was added
gene: MRPS7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS7 were set to ?Combined oxidative phosphorylation deficiency 34, 617872
Possible mitochondrial disorder - nuclear genes v0.2 MRPS34 Ivone Leong gene: MRPS34 was added
gene: MRPS34 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32, 617664
Possible mitochondrial disorder - nuclear genes v0.2 MRPS23 Ivone Leong gene: MRPS23 was added
gene: MRPS23 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS23 were set to 26741492
Phenotypes for gene: MRPS23 were set to Hepatic disease
Possible mitochondrial disorder - nuclear genes v0.2 MRPS22 Ivone Leong gene: MRPS22 was added
gene: MRPS22 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Combined oxidative phosphorylation deficiency 5, 611719
Possible mitochondrial disorder - nuclear genes v0.2 MRPS2 Ivone Leong gene: MRPS2 was added
gene: MRPS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS2 were set to 29576219
Phenotypes for gene: MRPS2 were set to Combined oxidative phosphorylation deficiency 36, 617950
Possible mitochondrial disorder - nuclear genes v0.2 MRPS16 Ivone Leong gene: MRPS16 was added
gene: MRPS16 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS16 were set to 28749478; 15505824
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498
Possible mitochondrial disorder - nuclear genes v0.2 MRPS14 Ivone Leong gene: MRPS14 was added
gene: MRPS14 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 MRPL44 Ivone Leong gene: MRPL44 was added
gene: MRPL44 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL44 were set to 25797485; 23315540
Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395
Possible mitochondrial disorder - nuclear genes v0.2 MRPL3 Ivone Leong gene: MRPL3 was added
gene: MRPL3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL3 were set to 21786366; 27815843
Phenotypes for gene: MRPL3 were set to Combined oxidative phosphorylation deficiency 9, 614582
Possible mitochondrial disorder - nuclear genes v0.2 MRPL12 Ivone Leong gene: MRPL12 was added
gene: MRPL12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPL12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL12 were set to 23603806
Phenotypes for gene: MRPL12 were set to Growth retardation and neurological deterioration
Possible mitochondrial disorder - nuclear genes v0.2 MRM2 Ivone Leong gene: MRM2 was added
gene: MRM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 MPV17 Ivone Leong gene: MPV17 was added
gene: MPV17 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Possible mitochondrial disorder - nuclear genes v0.2 MPC1 Ivone Leong gene: MPC1 was added
gene: MPC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC1 were set to 22628558
Phenotypes for gene: MPC1 were set to Lactic acidosis and hyperpyruvatemia
Possible mitochondrial disorder - nuclear genes v0.2 MIPEP Ivone Leong gene: MIPEP was added
gene: MIPEP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228
Possible mitochondrial disorder - nuclear genes v0.2 MICU1 Ivone Leong gene: MICU1 was added
gene: MICU1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673
Possible mitochondrial disorder - nuclear genes v0.2 C19orf70 Ivone Leong gene: C19orf70 was added
gene: C19orf70 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 29618761; 27485409; 27623147
Phenotypes for gene: C19orf70 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 MGME1 Ivone Leong gene: MGME1 was added
gene: MGME1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGME1 were set to 23313956
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084
Possible mitochondrial disorder - nuclear genes v0.2 MFN2 Ivone Leong gene: MFN2 was added
gene: MFN2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 22556188; 22189565
Phenotypes for gene: MFN2 were set to Mitochondrial DNA depletion syndrome; Optic atrophy plus
Possible mitochondrial disorder - nuclear genes v0.2 MFF Ivone Leong gene: MFF was added
gene: MFF was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Possible mitochondrial disorder - nuclear genes v0.2 MECR Ivone Leong gene: MECR was added
gene: MECR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
Possible mitochondrial disorder - nuclear genes v0.2 MDH2 Ivone Leong gene: MDH2 was added
gene: MDH2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51, 617339
Possible mitochondrial disorder - nuclear genes v0.2 MARS2 Ivone Leong gene: MARS2 was added
gene: MARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390; ?Combined oxidative phosphorylation deficiency 25, 616430
Possible mitochondrial disorder - nuclear genes v0.2 LYRM7 Ivone Leong gene: LYRM7 was added
gene: LYRM7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Possible mitochondrial disorder - nuclear genes v0.2 LYRM4 Ivone Leong gene: LYRM4 was added
gene: LYRM4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYRM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM4 were set to 23814038
Phenotypes for gene: LYRM4 were set to ?Combined oxidative phosphorylation deficiency 19, 615595
Possible mitochondrial disorder - nuclear genes v0.2 LRPPRC Ivone Leong gene: LRPPRC was added
gene: LRPPRC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111
Possible mitochondrial disorder - nuclear genes v0.2 LONP1 Ivone Leong gene: LONP1 was added
gene: LONP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373
Possible mitochondrial disorder - nuclear genes v0.2 LIPT2 Ivone Leong gene: LIPT2 was added
gene: LIPT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203; 28803783
Phenotypes for gene: LIPT2 were set to ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Possible mitochondrial disorder - nuclear genes v0.2 LIPT1 Ivone Leong gene: LIPT1 was added
gene: LIPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
Possible mitochondrial disorder - nuclear genes v0.2 LIAS Ivone Leong gene: LIAS was added
gene: LIAS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Possible mitochondrial disorder - nuclear genes v0.2 LARS2 Ivone Leong gene: LARS2 was added
gene: LARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300
Possible mitochondrial disorder - nuclear genes v0.2 KARS Ivone Leong gene: KARS was added
gene: KARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89 613916; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Possible mitochondrial disorder - nuclear genes v0.2 ISCU Ivone Leong gene: ISCU was added
gene: ISCU was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary, 255125
Possible mitochondrial disorder - nuclear genes v0.2 ISCA2 Ivone Leong gene: ISCA2 was added
gene: ISCA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
Possible mitochondrial disorder - nuclear genes v0.2 ISCA1 Ivone Leong gene: ISCA1 was added
gene: ISCA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 29767723
Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Possible mitochondrial disorder - nuclear genes v0.2 IDH3B Ivone Leong gene: IDH3B was added
gene: IDH3B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDH3B were set to Retinitis pigmentosa 46, 612572
Possible mitochondrial disorder - nuclear genes v0.2 IDH3A Ivone Leong gene: IDH3A was added
gene: IDH3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 28412069; 28058510
Phenotypes for gene: IDH3A were set to Infantile encephalopathy; Retinitis pigmentosa with macular pseudocoloboma
Possible mitochondrial disorder - nuclear genes v0.2 IBA57 Ivone Leong gene: IBA57 was added
gene: IBA57 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Possible mitochondrial disorder - nuclear genes v0.2 IARS2 Ivone Leong gene: IARS2 was added
gene: IARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Possible mitochondrial disorder - nuclear genes v0.2 HTRA2 Ivone Leong gene: HTRA2 was added
gene: HTRA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248
Possible mitochondrial disorder - nuclear genes v0.2 HSPD1 Ivone Leong gene: HSPD1 was added
gene: HSPD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant 605280; Leukodystrophy, hypomyelinating, 4, 612233
Possible mitochondrial disorder - nuclear genes v0.2 HSD17B10 Ivone Leong gene: HSD17B10 was added
gene: HSD17B10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease, 300438
Possible mitochondrial disorder - nuclear genes v0.2 HLCS Ivone Leong gene: HLCS was added
gene: HLCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270
Possible mitochondrial disorder - nuclear genes v0.2 HIBCH Ivone Leong gene: HIBCH was added
gene: HIBCH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Possible mitochondrial disorder - nuclear genes v0.2 HCCS Ivone Leong gene: HCCS was added
gene: HCCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, 309801
Possible mitochondrial disorder - nuclear genes v0.2 HARS2 Ivone Leong gene: HARS2 was added
gene: HARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2, 614926
Possible mitochondrial disorder - nuclear genes v0.2 GTPBP3 Ivone Leong gene: GTPBP3 was added
gene: GTPBP3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 61698
Possible mitochondrial disorder - nuclear genes v0.2 GLRX5 Ivone Leong gene: GLRX5 was added
gene: GLRX5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRX5 were set to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Possible mitochondrial disorder - nuclear genes v0.2 GFM2 Ivone Leong gene: GFM2 was added
gene: GFM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM2 were set to 29075935
Phenotypes for gene: GFM2 were set to Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Possible mitochondrial disorder - nuclear genes v0.2 GFM1 Ivone Leong gene: GFM1 was added
gene: GFM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060
Possible mitochondrial disorder - nuclear genes v0.2 GFER Ivone Leong gene: GFER was added
gene: GFER was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Possible mitochondrial disorder - nuclear genes v0.2 GDAP1 Ivone Leong gene: GDAP1 was added
gene: GDAP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706
Possible mitochondrial disorder - nuclear genes v0.2 GATC Ivone Leong gene: GATC was added
gene: GATC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATC were set to 30283131
Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy disorder
Possible mitochondrial disorder - nuclear genes v0.2 GATB Ivone Leong gene: GATB was added
gene: GATB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATB were set to 30283131
Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy disorder
Possible mitochondrial disorder - nuclear genes v0.2 GARS Ivone Leong gene: GARS was added
gene: GARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GARS were set to Neuropathy, distal hereditary motor, type VA, 600794; Charcot-Marie-Tooth disease, type 2D, 601472
Possible mitochondrial disorder - nuclear genes v0.2 FOXRED1 Ivone Leong gene: FOXRED1 was added
gene: FOXRED1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Possible mitochondrial disorder - nuclear genes v0.2 FLAD1 Ivone Leong gene: FLAD1 was added
gene: FLAD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
Possible mitochondrial disorder - nuclear genes v0.2 FH Ivone Leong gene: FH was added
gene: FH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812
Possible mitochondrial disorder - nuclear genes v0.2 FDXR Ivone Leong gene: FDXR was added
gene: FDXR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, 617717
Possible mitochondrial disorder - nuclear genes v0.2 FDX2 Ivone Leong gene: FDX2 was added
gene: FDX2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDX2 were set to 30010796; 28803783; 24281368
Phenotypes for gene: FDX2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 FBXL4 Ivone Leong gene: FBXL4 was added
gene: FBXL4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 25868664
Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Possible mitochondrial disorder - nuclear genes v0.2 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 FARS2 Ivone Leong gene: FARS2 was added
gene: FARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946; Spastic paraplegia 77, autosomal recessive, 617046
Possible mitochondrial disorder - nuclear genes v0.2 ETHE1 Ivone Leong gene: ETHE1 was added
gene: ETHE1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473
Possible mitochondrial disorder - nuclear genes v0.2 ETFDH Ivone Leong gene: ETFDH was added
gene: ETFDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680
Possible mitochondrial disorder - nuclear genes v0.2 ERAL1 Ivone Leong gene: ERAL1 was added
gene: ERAL1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565
Possible mitochondrial disorder - nuclear genes v0.2 ELAC2 Ivone Leong gene: ELAC2 was added
gene: ELAC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440
Possible mitochondrial disorder - nuclear genes v0.2 ECSIT Ivone Leong gene: ECSIT was added
gene: ECSIT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ECSIT was set to Unknown
Phenotypes for gene: ECSIT were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ECHS1 Ivone Leong gene: ECHS1 was added
gene: ECHS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277
Possible mitochondrial disorder - nuclear genes v0.2 EARS2 Ivone Leong gene: EARS2 was added
gene: EARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924
Possible mitochondrial disorder - nuclear genes v0.2 DNM2 Ivone Leong gene: DNM2 was added
gene: DNM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150
Possible mitochondrial disorder - nuclear genes v0.2 DNM1L Ivone Leong gene: DNM1L was added
gene: DNM1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; Optic atrophy 5, 610708
Possible mitochondrial disorder - nuclear genes v0.2 DNAJC19 Ivone Leong gene: DNAJC19 was added
gene: DNAJC19 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198
Possible mitochondrial disorder - nuclear genes v0.2 DNA2 Ivone Leong gene: DNA2 was added
gene: DNA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNA2 were set to 23352259
Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Possible mitochondrial disorder - nuclear genes v0.2 DLD Ivone Leong gene: DLD was added
gene: DLD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
Possible mitochondrial disorder - nuclear genes v0.2 DLAT Ivone Leong gene: DLAT was added
gene: DLAT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Possible mitochondrial disorder - nuclear genes v0.2 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Possible mitochondrial disorder - nuclear genes v0.2 DARS2 Ivone Leong gene: DARS2 was added
gene: DARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Possible mitochondrial disorder - nuclear genes v0.2 CYC1 Ivone Leong gene: CYC1 was added
gene: CYC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Possible mitochondrial disorder - nuclear genes v0.2 COX8A Ivone Leong gene: COX8A was added
gene: COX8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX7C Ivone Leong gene: COX7C was added
gene: COX7C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7C was set to Unknown
Phenotypes for gene: COX7C were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Possible mitochondrial disorder - nuclear genes v0.2 COX7A1 Ivone Leong gene: COX7A1 was added
gene: COX7A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7A1 was set to Unknown
Phenotypes for gene: COX7A1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6C Ivone Leong gene: COX6C was added
gene: COX6C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6C was set to Unknown
Phenotypes for gene: COX6C were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6B2 Ivone Leong gene: COX6B2 was added
gene: COX6B2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B2 was set to Unknown
Phenotypes for gene: COX6B2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6B1 Ivone Leong gene: COX6B1 was added
gene: COX6B1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX6A2 Ivone Leong gene: COX6A2 was added
gene: COX6A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A2 was set to Unknown
Phenotypes for gene: COX6A2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6A1 Ivone Leong gene: COX6A1 was added
gene: COX6A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Possible mitochondrial disorder - nuclear genes v0.2 COX5B Ivone Leong gene: COX5B was added
gene: COX5B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5B was set to Unknown
Phenotypes for gene: COX5B were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX5A Ivone Leong gene: COX5A was added
gene: COX5A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 28247525
Phenotypes for gene: COX5A were set to Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Possible mitochondrial disorder - nuclear genes v0.2 COX4I2 Ivone Leong gene: COX4I2 was added
gene: COX4I2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Possible mitochondrial disorder - nuclear genes v0.2 COX4I1 Ivone Leong gene: COX4I1 was added
gene: COX4I1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX20 Ivone Leong gene: COX20 was added
gene: COX20 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX19 Ivone Leong gene: COX19 was added
gene: COX19 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX19 was set to Unknown
Phenotypes for gene: COX19 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX18 Ivone Leong gene: COX18 was added
gene: COX18 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX17 Ivone Leong gene: COX17 was added
gene: COX17 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX17 was set to Unknown
Phenotypes for gene: COX17 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX16 Ivone Leong gene: COX16 was added
gene: COX16 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX16 was set to Unknown
Phenotypes for gene: COX16 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX15 Ivone Leong gene: COX15 was added
gene: COX15 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Possible mitochondrial disorder - nuclear genes v0.2 COX14 Ivone Leong gene: COX14 was added
gene: COX14 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX11 Ivone Leong gene: COX11 was added
gene: COX11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX11 was set to Unknown
Phenotypes for gene: COX11 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX10 Ivone Leong gene: COX10 was added
gene: COX10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654
Possible mitochondrial disorder - nuclear genes v0.2 COQ8B Ivone Leong gene: COQ8B was added
gene: COQ8B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573
Possible mitochondrial disorder - nuclear genes v0.2 COQ8A Ivone Leong gene: COQ8A was added
gene: COQ8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016
Possible mitochondrial disorder - nuclear genes v0.2 COQ6 Ivone Leong gene: COQ6 was added
gene: COQ6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650
Possible mitochondrial disorder - nuclear genes v0.2 COQ4 Ivone Leong gene: COQ4 was added
gene: COQ4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276
Possible mitochondrial disorder - nuclear genes v0.2 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, 607426
Possible mitochondrial disorder - nuclear genes v0.2 COA7 Ivone Leong gene: COA7 was added
gene: COA7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COA6 Ivone Leong gene: COA6 was added
gene: COA6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Possible mitochondrial disorder - nuclear genes v0.2 COA5 Ivone Leong gene: COA5 was added
gene: COA5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Possible mitochondrial disorder - nuclear genes v0.2 COA4 Ivone Leong gene: COA4 was added
gene: COA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA4 was set to Unknown
Phenotypes for gene: COA4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COA3 Ivone Leong gene: COA3 was added
gene: COA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA3 were set to 25604084
Phenotypes for gene: COA3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COA1 Ivone Leong gene: COA1 was added
gene: COA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA1 was set to Unknown
Phenotypes for gene: COA1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 CLPP Ivone Leong gene: CLPP was added
gene: CLPP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129
Possible mitochondrial disorder - nuclear genes v0.2 CLPB Ivone Leong gene: CLPB was added
gene: CLPB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Possible mitochondrial disorder - nuclear genes v0.2 CHCHD10 Ivone Leong gene: CHCHD10 was added
gene: CHCHD10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Possible mitochondrial disorder - nuclear genes v0.2 CEP89 Ivone Leong gene: CEP89 was added
gene: CEP89 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP89 were set to 23575228
Phenotypes for gene: CEP89 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 CARS2 Ivone Leong gene: CARS2 was added
gene: CARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672
Possible mitochondrial disorder - nuclear genes v0.2 CA5A Ivone Leong gene: CA5A was added
gene: CA5A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Possible mitochondrial disorder - nuclear genes v0.2 C1QBP Ivone Leong gene: C1QBP was added
gene: C1QBP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, 617713
Possible mitochondrial disorder - nuclear genes v0.2 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035
Possible mitochondrial disorder - nuclear genes v0.2 BTD Ivone Leong gene: BTD was added
gene: BTD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to Biotinidase deficiency, 253260
Possible mitochondrial disorder - nuclear genes v0.2 BOLA3 Ivone Leong gene: BOLA3 was added
gene: BOLA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299
Possible mitochondrial disorder - nuclear genes v0.2 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000
Possible mitochondrial disorder - nuclear genes v0.2 ATPAF2 Ivone Leong gene: ATPAF2 was added
gene: ATPAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Possible mitochondrial disorder - nuclear genes v0.2 ATPAF1 Ivone Leong gene: ATPAF1 was added
gene: ATPAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF1 was set to Unknown
Phenotypes for gene: ATPAF1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5O Ivone Leong gene: ATP5O was added
gene: ATP5O was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5O was set to Unknown
Phenotypes for gene: ATP5O were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J Ivone Leong gene: ATP5J was added
gene: ATP5J was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J was set to Unknown
Phenotypes for gene: ATP5J were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5H Ivone Leong gene: ATP5H was added
gene: ATP5H was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5H was set to Unknown
Phenotypes for gene: ATP5H were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5F1 Ivone Leong gene: ATP5F1 was added
gene: ATP5F1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5F1 was set to Unknown
Phenotypes for gene: ATP5F1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L2 Ivone Leong gene: ATP5L2 was added
gene: ATP5L2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L2 was set to Unknown
Phenotypes for gene: ATP5L2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L Ivone Leong gene: ATP5L was added
gene: ATP5L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L was set to Unknown
Phenotypes for gene: ATP5L were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J2 Ivone Leong gene: ATP5J2 was added
gene: ATP5J2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J2 was set to Unknown
Phenotypes for gene: ATP5J2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5I Ivone Leong gene: ATP5I was added
gene: ATP5I was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5I was set to Unknown
Phenotypes for gene: ATP5I were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G3 Ivone Leong gene: ATP5G3 was added
gene: ATP5G3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G3 was set to Unknown
Phenotypes for gene: ATP5G3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G2 Ivone Leong gene: ATP5G2 was added
gene: ATP5G2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G2 was set to Unknown
Phenotypes for gene: ATP5G2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G1 Ivone Leong gene: ATP5G1 was added
gene: ATP5G1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G1 was set to Unknown
Phenotypes for gene: ATP5G1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5E Ivone Leong gene: ATP5E was added
gene: ATP5E was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Possible mitochondrial disorder - nuclear genes v0.2 ATP5D Ivone Leong gene: ATP5D was added
gene: ATP5D was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Possible mitochondrial disorder - nuclear genes v0.2 ATP5C1 Ivone Leong gene: ATP5C1 was added
gene: ATP5C1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5C1 was set to Unknown
Phenotypes for gene: ATP5C1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5B Ivone Leong gene: ATP5B was added
gene: ATP5B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5B was set to Unknown
Phenotypes for gene: ATP5B were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5A1 Ivone Leong gene: ATP5A1 was added
gene: ATP5A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228
Possible mitochondrial disorder - nuclear genes v0.2 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183
Possible mitochondrial disorder - nuclear genes v0.2 APTX Ivone Leong gene: APTX was added
gene: APTX was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Possible mitochondrial disorder - nuclear genes v0.2 APOPT1 Ivone Leong gene: APOPT1 was added
gene: APOPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 ANO10 Ivone Leong gene: ANO10 was added
gene: ANO10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10, 613728
Possible mitochondrial disorder - nuclear genes v0.2 AIFM1 Ivone Leong gene: AIFM1 was added
gene: AIFM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6, 300816
Possible mitochondrial disorder - nuclear genes v0.2 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
Possible mitochondrial disorder - nuclear genes v0.2 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 25420100
Phenotypes for gene: AFG3L2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions
Possible mitochondrial disorder - nuclear genes v0.2 ACO2 Ivone Leong gene: ACO2 was added
gene: ACO2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559
Possible mitochondrial disorder - nuclear genes v0.2 ACAD9 Ivone Leong gene: ACAD9 was added
gene: ACAD9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Possible mitochondrial disorder - nuclear genes v0.2 ABCB7 Ivone Leong gene: ABCB7 was added
gene: ABCB7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310
Possible mitochondrial disorder - nuclear genes v0.2 ABAT Ivone Leong gene: ABAT was added
gene: ABAT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 25738457
Phenotypes for gene: ABAT were set to Mitochondrial DNA depletion syndrome
Possible mitochondrial disorder - nuclear genes v0.2 AARS2 Ivone Leong gene: AARS2 was added
gene: AARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy, progressive, with ovarian failure, 615889
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong Tag new-gene-name tag was added to gene: ATP5O.
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong commented on gene: ATP5O: ATP5O has a new gene name: ATP5PO
Mitochondrial disorder with complex V deficiency v0.3 ATP5L2 Ivone Leong commented on gene: ATP5L2: ATP5L2 has a new gene name: ATP5MGL
Mitochondrial disorder with complex V deficiency v0.3 ATP5L2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5L2.
Mitochondrial disorder with complex V deficiency v0.3 ATP5L Ivone Leong Tag new-gene-name tag was added to gene: ATP5L.
Mitochondrial disorder with complex V deficiency v0.3 ATP5L Ivone Leong commented on gene: ATP5L: ATP5L has a new gene name: ATP5MG
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5J2.
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong commented on gene: ATP5J2: ATP5J2 has a new gene name: ATP5MF
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong Tag new-gene-name tag was added to gene: ATP5J.
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong commented on gene: ATP5J: ATP5J has a new gene name: ATP5PF
Mitochondrial disorder with complex V deficiency v0.3 ATP5I Ivone Leong Tag new-gene-name tag was added to gene: ATP5I.
Mitochondrial disorder with complex V deficiency v0.3 ATP5I Ivone Leong commented on gene: ATP5I: ATP5I has a new gene name: ATP5ME
Mitochondrial disorder with complex V deficiency v0.3 ATP5H Ivone Leong Tag new-gene-name tag was added to gene: ATP5H.
Mitochondrial disorder with complex V deficiency v0.3 ATP5H Ivone Leong commented on gene: ATP5H: ATP5H has a new gene name: ATP5PD
Mitochondrial disorder with complex V deficiency v0.3 ATP5G3 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G3.
Mitochondrial disorder with complex V deficiency v0.3 ATP5G3 Ivone Leong commented on gene: ATP5G3: ATP5G3 has a new gene name: ATP5MC3
Mitochondrial disorder with complex V deficiency v0.3 ATP5G2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G2.
Mitochondrial disorder with complex V deficiency v0.3 ATP5G2 Ivone Leong commented on gene: ATP5G2: ATP5G2 has a new gene name: ATP5MC2
Mitochondrial disorder with complex V deficiency v0.3 ATP5G1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G1.
Mitochondrial disorder with complex V deficiency v0.3 ATP5G1 Ivone Leong commented on gene: ATP5G1: ATP5G1 has a new gene name: ATP5MC1
Mitochondrial disorder with complex V deficiency v0.3 ATP5F1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5F1.
Mitochondrial disorder with complex V deficiency v0.3 ATP5F1 Ivone Leong commented on gene: ATP5F1: ATP5F1 has a new gene name: ATP5PB
Mitochondrial disorder with complex V deficiency v0.3 ATP5E Ivone Leong Tag new-gene-name tag was added to gene: ATP5E.
Mitochondrial disorder with complex V deficiency v0.3 ATP5E Ivone Leong commented on gene: ATP5E: ATP5E has a new gene name: ATP5F1E
Mitochondrial disorder with complex V deficiency v0.3 ATP5C1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5C1.
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong Tag new-gene-name tag was added to gene: ATP5D.
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong commented on gene: ATP5D: ATP5D has a new gene name: ATPF1D
Mitochondrial disorder with complex V deficiency v0.3 ATP5C1 Ivone Leong commented on gene: ATP5C1: ATP5C1 has a new gene name: ATPF1C
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong Tag new-gene-name tag was added to gene: ATP5B.
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong commented on gene: ATP5B: ATP5B has a new gene name: ATPF1B
Mitochondrial disorder with complex V deficiency v0.3 ATP5A1 Ivone Leong commented on gene: ATP5A1: ATP5A1 has a new gene name: ATPF1A
Mitochondrial disorder with complex V deficiency v0.3 ATP5A1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5A1.
Cholestasis v0.22 USP53 Ivone Leong Classified gene: USP53 as Amber List (moderate evidence)
Cholestasis v0.22 USP53 Ivone Leong Added comment: Comment on list classification: Demoted to amber as awaiting further evidence.
Cholestasis v0.22 USP53 Ivone Leong Gene: usp53 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.21 BCS1L Anna de Burca edited their review of gene: BCS1L: Added comment: Following discussion with the NHS GMS gastrohepatology specialist group on 14.01.19, it was agreed that although the phenotype associated with this gene is generally broader than isolated cholestasis, it would be appropriate to include on this panel as this might be the first presenting feature.; Changed rating: GREEN
Mitochondrial disorder with complex V deficiency v0.3 TMEM70 Ivone Leong reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATPAF2 Ivone Leong reviewed gene: ATPAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATPAF1 Ivone Leong reviewed gene: ATPAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong reviewed gene: ATP5J: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5H Ivone Leong reviewed gene: ATP5H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5F1 Ivone Leong reviewed gene: ATP5F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5L2 Ivone Leong reviewed gene: ATP5L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5L Ivone Leong reviewed gene: ATP5L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong reviewed gene: ATP5J2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5I Ivone Leong reviewed gene: ATP5I: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5G3 Ivone Leong reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5G2 Ivone Leong reviewed gene: ATP5G2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5G1 Ivone Leong reviewed gene: ATP5G1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5E Ivone Leong reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATP5C1 Ivone Leong reviewed gene: ATP5C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong reviewed gene: ATP5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5A1 Ivone Leong reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.2 TMEM70 Ivone Leong gene: TMEM70 was added
gene: TMEM70 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Mitochondrial disorder with complex V deficiency v0.2 ATPAF2 Ivone Leong gene: ATPAF2 was added
gene: ATPAF2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Mitochondrial disorder with complex V deficiency v0.2 ATPAF1 Ivone Leong gene: ATPAF1 was added
gene: ATPAF1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF1 was set to Unknown
Phenotypes for gene: ATPAF1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5O Ivone Leong gene: ATP5O was added
gene: ATP5O was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5O was set to Unknown
Phenotypes for gene: ATP5O were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5J Ivone Leong gene: ATP5J was added
gene: ATP5J was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J was set to Unknown
Phenotypes for gene: ATP5J were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5H Ivone Leong gene: ATP5H was added
gene: ATP5H was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5H was set to Unknown
Phenotypes for gene: ATP5H were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5F1 Ivone Leong gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5F1 was set to Unknown
Phenotypes for gene: ATP5F1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5L2 Ivone Leong gene: ATP5L2 was added
gene: ATP5L2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L2 was set to Unknown
Phenotypes for gene: ATP5L2 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5L Ivone Leong gene: ATP5L was added
gene: ATP5L was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L was set to Unknown
Phenotypes for gene: ATP5L were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5J2 Ivone Leong gene: ATP5J2 was added
gene: ATP5J2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J2 was set to Unknown
Phenotypes for gene: ATP5J2 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5I Ivone Leong gene: ATP5I was added
gene: ATP5I was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5I was set to Unknown
Phenotypes for gene: ATP5I were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5G3 Ivone Leong gene: ATP5G3 was added
gene: ATP5G3 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G3 was set to Unknown
Phenotypes for gene: ATP5G3 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5G2 Ivone Leong gene: ATP5G2 was added
gene: ATP5G2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G2 was set to Unknown
Phenotypes for gene: ATP5G2 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5G1 Ivone Leong gene: ATP5G1 was added
gene: ATP5G1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G1 was set to Unknown
Phenotypes for gene: ATP5G1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5E Ivone Leong gene: ATP5E was added
gene: ATP5E was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Mitochondrial disorder with complex V deficiency v0.2 ATP5D Ivone Leong gene: ATP5D was added
gene: ATP5D was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Mitochondrial disorder with complex V deficiency v0.2 ATP5C1 Ivone Leong gene: ATP5C1 was added
gene: ATP5C1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5C1 was set to Unknown
Phenotypes for gene: ATP5C1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5B Ivone Leong gene: ATP5B was added
gene: ATP5B was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5B was set to Unknown
Phenotypes for gene: ATP5B were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5A1 Ivone Leong gene: ATP5A1 was added
gene: ATP5A1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228
Proteinuric renal disease v1.16 XPO5 Eleanor Williams reviewed gene: XPO5: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 26878725; Phenotypes: Nephrotic syndrome ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 SLC19A3 Eleanor Williams reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) #607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 SLC19A2 Eleanor Williams reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome #249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 NXF5 Eleanor Williams reviewed gene: NXF5: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 23686279; Phenotypes: FSGS and heart-block disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Proteinuric renal disease v1.16 NLRP3 Eleanor Williams reviewed gene: NLRP3: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 30431487; Phenotypes: SRNS; Mode of inheritance:
Proteinuric renal disease v1.16 NEU1 Eleanor Williams reviewed gene: NEU1: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 30450471; Phenotypes: SRNS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 NEIL1 Eleanor Williams reviewed gene: NEIL1: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 21697813; Phenotypes: SRNS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 MED28 Eleanor Williams reviewed gene: MED28: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 LAMA5 Eleanor Williams reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 29534211; Phenotypes: No OMIM disease association; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 KANK4 Eleanor Williams reviewed gene: KANK4: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 25961457; Phenotypes: No OMIM disease association; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 KANK1 Eleanor Williams reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 25961457; Phenotypes: Steroid sensitive resistant nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 E2F3 Eleanor Williams reviewed gene: E2F3: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 21372519; Phenotypes: FSGS + mental retardation (No OMIM ref); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 CYP11B2 Eleanor Williams reviewed gene: CYP11B2: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 9814506, PMID: 24022297; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency #203400, Hypoaldosteronism, congenital, due to CMO II deficiency #610600; Mode of inheritance: Unknown; Current diagnostic: yes
Proteinuric renal disease v1.16 COQ9 Eleanor Williams reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 19375058; Phenotypes: Coenzyme Q10 deficiency, primary, 5 #614654; Mode of inheritance: ; Current diagnostic: yes
Proteinuric renal disease v1.16 COQ7 Eleanor Williams reviewed gene: COQ7: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 26084283; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8 #616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 COL4A1 Eleanor Williams reviewed gene: COL4A1: Rating: RED; Mode of pathogenicity: ; Publications: PMID27190376; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773; Mode of inheritance: ; Current diagnostic: yes
Proteinuric renal disease v1.16 CDK20 Eleanor Williams reviewed gene: CDK20: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 29773874; Phenotypes: Chronic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 CD151 Eleanor Williams reviewed gene: CD151: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 15265795; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness #609057; Mode of inheritance: Unknown; Current diagnostic: yes
Proteinuric renal disease v1.16 GIF Eleanor Williams reviewed gene: GIF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 ARHGAP24 Eleanor Williams reviewed gene: ARHGAP24: Rating: RED; Mode of pathogenicity: ; Publications: PMID21911940; Phenotypes: Focal segmental glomerulosclerosis ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 ANKFY1 Eleanor Williams reviewed gene: ANKFY1: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 29959197; Phenotypes: No OMIM disease association; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 ZMPSTE24 Eleanor Williams reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 17152860 ; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy #608612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 VPS33B Eleanor Williams reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 VIPAS39 Eleanor Williams reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26940125, PMID: 24876116 ; Phenotypes: Nephronophthisis 12 # 613820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 TPRKB Eleanor Williams reviewed gene: TPRKB: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 28805828; Phenotypes: Galloway-Mowat syndrome 5 #617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 SYNPO Eleanor Williams reviewed gene: SYNPO: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 19666657; Phenotypes: FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 PTPRO Eleanor Williams reviewed gene: PTPRO: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 21722858, PMID: 30065916 ; Phenotypes: Nephrotic syndrome, type 6 #614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 PMM2 Eleanor Williams reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 19474279, PMID: 29229467 ; Phenotypes: Congenital disorder of glycosylation, type Ia #212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 NUP205 Eleanor Williams reviewed gene: NUP205: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26878725; Phenotypes: ?Nephrotic syndrome, type 13 #616893; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 NUP160 Eleanor Williams reviewed gene: NUP160: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 30179222 ; Phenotypes: ?Nephrotic syndrome, type 19 #618178; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 NPHP4 Eleanor Williams reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 17954299, PMID 26346198 ; Phenotypes: Nephronophthisis 4 #606966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 MTRR Eleanor Williams reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type #236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 MTR Eleanor Williams reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type #250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 MEFV Eleanor Williams reviewed gene: MEFV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Mediterranean fever, AR #249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 MAFB Eleanor Williams reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID:29779709, PMID: 22387013; Phenotypes: FSGS with Duane retraction syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 LMNA Eleanor Williams reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 24080738, PMID: 28620495; Phenotypes: Partial lipodystrophy and FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 LCAT Eleanor Williams reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Norum disease #245900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 KANK2 Eleanor Williams reviewed gene: KANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 25961457; Phenotypes: Nephrotic syndrome 16 #617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 ITSN2 Eleanor Williams reviewed gene: ITSN2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 29773874; Phenotypes: Early childhood SSNS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 ITGB4 Eleanor Williams reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 11328943; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis #226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 ITGA3 Eleanor Williams reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 GAPVD1 Eleanor Williams reviewed gene: GAPVD1: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 29959197; Phenotypes: No OMIM disease association; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 DGKE Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 23274426, PMID: 23542698; Phenotypes: Nephrotic syndrome, type 7 #615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 CD2AP Eleanor Williams reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 30612599, PMID: 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3 #607832; Mode of inheritance: Unknown; Current diagnostic: yes
Proteinuric renal disease v1.16 ARHGDIA Eleanor Williams reviewed gene: ARHGDIA: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 23434736, PMID: 23867502, PMID: 30295827; Phenotypes: Nephrotic syndrome, type 8 #615224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 APOL1 Eleanor Williams reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551; Mode of inheritance: Unknown
Proteinuric renal disease v1.16 ANLN Eleanor Williams reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID24676636, PMID: 30002222; Phenotypes: Focal segmental glomerulosclerosis 8 #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 AMN Eleanor Williams reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26040326; Phenotypes: Megaloblastic anemia-1, Norwegian type #261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 ALMS1 Eleanor Williams reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID25846608; Phenotypes: Alstrom Syndrome #203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 ALG1 Eleanor Williams reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 27325525; Phenotypes: Congenital disorder of glycosylation, type Ik #608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 TBC1D8B Eleanor Williams reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30661770 ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuric renal disease v1.16 WT1 Eleanor Williams reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Denys-Drash syndrome #194080, Frasier syndrome #136680, Wilms tumor, type 1 #194070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 WDR73 Eleanor Williams reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26123727, PMID: 25466283 ; Phenotypes: Galloway-Mowat syndrome 1 #251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 TRPC6 Eleanor Williams reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glomerulosclerosis, focal segmental, 2 #603652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 TP53RK Eleanor Williams reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28805828; Phenotypes: Galloway-Mowat syndrome 4 #617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 TNS2 Eleanor Williams reviewed gene: TNS2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID : 29773874; Phenotypes: ; Mode of inheritance:
Proteinuric renal disease v1.16 SMARCAL1 Eleanor Williams reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 11799392; Phenotypes: Schimke immunoosseous dysplasia #242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 SGPL1 Eleanor Williams reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28181337; Phenotypes: Nephrotic syndrome, type 14 #617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 SCARB2 Eleanor Williams reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: https://doi.org/10.1186/1471-2377-11-134, 22032306; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 PODXL Eleanor Williams reviewed gene: PODXL: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30523047, PMID: 29244787; Phenotypes: Congenital nephrotic syndrome ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.16 PLCE1 Eleanor Williams reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 20591883; Phenotypes: Nephrotic syndrome, type 3 #610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 PDSS2 Eleanor Williams reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 23926186 ; Phenotypes: Coenzyme Q10 deficiency, primary, 3 #614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 PAX2 Eleanor Williams reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26571382; Phenotypes: Glomerulosclerosis, focal segmental, 7 #616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 OSGEP Eleanor Williams reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28805828; Phenotypes: Galloway-Mowat syndrome 3 #617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 OCRL Eleanor Williams reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 21249396 , PMID: 17384968 ; Phenotypes: LOWE OCULOCEREBRORENAL SYNDROME #309000, Dent disease 2 #300555; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuric renal disease v1.16 NUP93 Eleanor Williams reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26878725; Phenotypes: Nephrotic syndrome, type 12 #616892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 NUP85 Eleanor Williams reviewed gene: NUP85: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30179222; Phenotypes: Nephrotic syndrome, type 17 #618176; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 NUP133 Eleanor Williams reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30179222 ; Phenotypes: Nephrotic syndrome, type 18 #618177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 NUP107 Eleanor Williams reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26411495, PMID 30179222 ; Phenotypes: Nephrotic syndrome, type 11 #616730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 NPHS2 Eleanor Williams reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrotic syndrome, type 2 #600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 NPHS1 Eleanor Williams reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrotic syndrome, type 1 #602716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 MYO1E Eleanor Williams reviewed gene: MYO1E: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 23595123, PMID:21697813; Phenotypes: Glomerulosclerosis, focal segmental, 6 #614131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 MYH9 Eleanor Williams reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 12792306, 22627578; Phenotypes: Epstein syndrome #153650, Fechtner syndrome #153640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 MAGI2 Eleanor Williams reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29773874, PMID: 27932480; Phenotypes: Nephrotic syndrome, type 15 # 617609; Mode of inheritance: ; Current diagnostic: yes
Proteinuric renal disease v1.16 LMX1B Eleanor Williams reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nail-patella syndrome #161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 LAMB2 Eleanor Williams reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrotic syndrome, type 5, with or without ocular abnormalities #614199, Pierson syndrome #609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 LAGE3 Eleanor Williams reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked #301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuric renal disease v1.16 ITSN1 Eleanor Williams reviewed gene: ITSN1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29773874; Phenotypes: Early childhood SSNS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 INF2 Eleanor Williams reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glomerulosclerosis, focal segmental, 5 #613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.16 GLA Eleanor Williams reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuric renal disease v1.16 FAT1 Eleanor Williams reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26905694; Phenotypes: Glomerulotubular nephropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 EMP2 Eleanor Williams reviewed gene: EMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID24814193; Phenotypes: Nephrotic syndrome, type 10 #615861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 DLC1 Eleanor Williams reviewed gene: DLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29773874; Phenotypes: Childhood and adult SSNS and SRNS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 DHFR Eleanor Williams reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Proteinuric renal disease v1.16 CUBN Eleanor Williams reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 22574174, PMID: 21903995; Phenotypes: Megaloblastic anemia-1, Finnish type #261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 CRB2 Eleanor Williams reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 25557779, PMID: 29473663; Phenotypes: Focal segmental glomerulosclerosis 9 #616220, Ventriculomegaly with cystic kidney disease #219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 COQ8B Eleanor Williams reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 24270420; Phenotypes: Nephrotic syndrome, type 9 #615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.16 COQ6 Eleanor Williams reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6 #614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 COQ2 Eleanor Williams reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29637272, PMID: 30180404 ; Phenotypes: Coenzyme Q10 deficiency, primary, 1 #607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 COL4A5 Eleanor Williams reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29987460, 29270492; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Proteinuric renal disease v1.16 COL4A4 Eleanor Williams reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 COL4A3 Eleanor Williams reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.16 CLCN5 Eleanor Williams reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID27757584, PMID: 25907713; Phenotypes: Dent disease #300009, Proteinuria low molecular weight #308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Proteinuric renal disease v1.16 ACTN4 Eleanor Williams reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29043128; Phenotypes: Glomerulosclerosis, focal segmental, 1 #603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuric renal disease v1.15 XPO5 Eleanor Williams gene: XPO5 was added
gene: XPO5 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: XPO5 was set to
Proteinuric renal disease v1.15 SLC19A3 Eleanor Williams Source NHS GMS was added to SLC19A3.
Proteinuric renal disease v1.15 SLC19A2 Eleanor Williams Source NHS GMS was added to SLC19A2.
Proteinuric renal disease v1.15 NXF5 Eleanor Williams gene: NXF5 was added
gene: NXF5 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NXF5 was set to
Proteinuric renal disease v1.15 NLRP3 Eleanor Williams gene: NLRP3 was added
gene: NLRP3 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NLRP3 was set to
Proteinuric renal disease v1.15 NEU1 Eleanor Williams gene: NEU1 was added
gene: NEU1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NEU1 was set to
Proteinuric renal disease v1.15 NEIL1 Eleanor Williams gene: NEIL1 was added
gene: NEIL1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NEIL1 was set to
Proteinuric renal disease v1.15 MED28 Eleanor Williams gene: MED28 was added
gene: MED28 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: MED28 was set to
Proteinuric renal disease v1.15 LAMA5 Eleanor Williams gene: LAMA5 was added
gene: LAMA5 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: LAMA5 was set to
Proteinuric renal disease v1.15 KANK4 Eleanor Williams gene: KANK4 was added
gene: KANK4 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: KANK4 was set to
Proteinuric renal disease v1.15 KANK1 Eleanor Williams gene: KANK1 was added
gene: KANK1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: KANK1 was set to
Proteinuric renal disease v1.15 E2F3 Eleanor Williams Source NHS GMS was added to E2F3.
Proteinuric renal disease v1.15 CYP11B2 Eleanor Williams Source NHS GMS was added to CYP11B2.
Proteinuric renal disease v1.15 COQ9 Eleanor Williams gene: COQ9 was added
gene: COQ9 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: COQ9 was set to
Proteinuric renal disease v1.15 COQ7 Eleanor Williams gene: COQ7 was added
gene: COQ7 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: COQ7 was set to
Proteinuric renal disease v1.15 COL4A1 Eleanor Williams gene: COL4A1 was added
gene: COL4A1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: COL4A1 was set to
Proteinuric renal disease v1.15 CDK20 Eleanor Williams gene: CDK20 was added
gene: CDK20 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: CDK20 was set to
Proteinuric renal disease v1.15 CD151 Eleanor Williams Source NHS GMS was added to CD151.
Proteinuric renal disease v1.15 GIF Eleanor Williams Source NHS GMS was added to GIF.
Proteinuric renal disease v1.15 ARHGAP24 Eleanor Williams Source NHS GMS was added to ARHGAP24.
Proteinuric renal disease v1.15 ANKFY1 Eleanor Williams gene: ANKFY1 was added
gene: ANKFY1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: ANKFY1 was set to
Proteinuric renal disease v1.15 ZMPSTE24 Eleanor Williams Source NHS GMS was added to ZMPSTE24.
Proteinuric renal disease v1.15 VPS33B Eleanor Williams gene: VPS33B was added
gene: VPS33B was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: VPS33B was set to
Proteinuric renal disease v1.15 VIPAS39 Eleanor Williams gene: VIPAS39 was added
gene: VIPAS39 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: VIPAS39 was set to
Proteinuric renal disease v1.15 TTC21B Eleanor Williams gene: TTC21B was added
gene: TTC21B was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: TTC21B was set to
Proteinuric renal disease v1.15 TPRKB Eleanor Williams gene: TPRKB was added
gene: TPRKB was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: TPRKB was set to
Proteinuric renal disease v1.15 SYNPO Eleanor Williams gene: SYNPO was added
gene: SYNPO was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: SYNPO was set to
Proteinuric renal disease v1.15 PTPRO Eleanor Williams Source NHS GMS was added to PTPRO.
Proteinuric renal disease v1.15 PMM2 Eleanor Williams Source NHS GMS was added to PMM2.
Proteinuric renal disease v1.15 NUP205 Eleanor Williams gene: NUP205 was added
gene: NUP205 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NUP205 was set to
Proteinuric renal disease v1.15 NUP160 Eleanor Williams gene: NUP160 was added
gene: NUP160 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NUP160 was set to
Proteinuric renal disease v1.15 NPHP4 Eleanor Williams gene: NPHP4 was added
gene: NPHP4 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NPHP4 was set to
Proteinuric renal disease v1.15 MTRR Eleanor Williams Source NHS GMS was added to MTRR.
Proteinuric renal disease v1.15 MTR Eleanor Williams Source NHS GMS was added to MTR.
Proteinuric renal disease v1.15 MEFV Eleanor Williams gene: MEFV was added
gene: MEFV was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: MEFV was set to
Proteinuric renal disease v1.15 MAFB Eleanor Williams gene: MAFB was added
gene: MAFB was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: MAFB was set to
Proteinuric renal disease v1.15 LMNA Eleanor Williams gene: LMNA was added
gene: LMNA was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: LMNA was set to
Proteinuric renal disease v1.15 LCAT Eleanor Williams Source NHS GMS was added to LCAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 KANK2 Eleanor Williams Source NHS GMS was added to KANK2.
Proteinuric renal disease v1.15 ITSN2 Eleanor Williams gene: ITSN2 was added
gene: ITSN2 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: ITSN2 was set to
Proteinuric renal disease v1.15 ITGB4 Eleanor Williams Source NHS GMS was added to ITGB4.
Proteinuric renal disease v1.15 ITGA3 Eleanor Williams Source NHS GMS was added to ITGA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 GAPVD1 Eleanor Williams gene: GAPVD1 was added
gene: GAPVD1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: GAPVD1 was set to
Proteinuric renal disease v1.15 DGKE Eleanor Williams gene: DGKE was added
gene: DGKE was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: DGKE was set to
Proteinuric renal disease v1.15 CD2AP Eleanor Williams Source NHS GMS was added to CD2AP.
Proteinuric renal disease v1.15 ARHGDIA Eleanor Williams Source NHS GMS was added to ARHGDIA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 APOL1 Eleanor Williams Source NHS GMS was added to APOL1.
Proteinuric renal disease v1.15 ANLN Eleanor Williams Source NHS GMS was added to ANLN.
Proteinuric renal disease v1.15 AMN Eleanor Williams Source NHS GMS was added to AMN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 ALMS1 Eleanor Williams Source NHS GMS was added to ALMS1.
Proteinuric renal disease v1.15 ALG1 Eleanor Williams Source NHS GMS was added to ALG1.
Proteinuric renal disease v1.15 TBC1D8B Eleanor Williams gene: TBC1D8B was added
gene: TBC1D8B was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: TBC1D8B was set to
Proteinuric renal disease v1.15 WT1 Eleanor Williams Source NHS GMS was added to WT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 WDR73 Eleanor Williams gene: WDR73 was added
gene: WDR73 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: WDR73 was set to
Proteinuric renal disease v1.15 TRPC6 Eleanor Williams Source NHS GMS was added to TRPC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 TP53RK Eleanor Williams gene: TP53RK was added
gene: TP53RK was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: TP53RK was set to
Proteinuric renal disease v1.15 TNS2 Eleanor Williams gene: TNS2 was added
gene: TNS2 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: TNS2 was set to
Proteinuric renal disease v1.15 SMARCAL1 Eleanor Williams Source NHS GMS was added to SMARCAL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 SGPL1 Eleanor Williams Source NHS GMS was added to SGPL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 SCARB2 Eleanor Williams Source NHS GMS was added to SCARB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 PODXL Eleanor Williams gene: PODXL was added
gene: PODXL was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: PODXL was set to
Proteinuric renal disease v1.15 PLCE1 Eleanor Williams Source NHS GMS was added to PLCE1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 PDSS2 Eleanor Williams Source NHS GMS was added to PDSS2.
Proteinuric renal disease v1.15 PAX2 Eleanor Williams gene: PAX2 was added
gene: PAX2 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: PAX2 was set to
Proteinuric renal disease v1.15 OSGEP Eleanor Williams Source NHS GMS was added to OSGEP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 OCRL Eleanor Williams gene: OCRL was added
gene: OCRL was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: OCRL was set to
Proteinuric renal disease v1.15 NUP93 Eleanor Williams Source NHS GMS was added to NUP93.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 NUP85 Eleanor Williams gene: NUP85 was added
gene: NUP85 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NUP85 was set to
Proteinuric renal disease v1.15 NUP133 Eleanor Williams gene: NUP133 was added
gene: NUP133 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NUP133 was set to
Proteinuric renal disease v1.15 NUP107 Eleanor Williams gene: NUP107 was added
gene: NUP107 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: NUP107 was set to
Proteinuric renal disease v1.15 NPHS2 Eleanor Williams Source NHS GMS was added to NPHS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 NPHS1 Eleanor Williams Source NHS GMS was added to NPHS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 MYO1E Eleanor Williams Source NHS GMS was added to MYO1E.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 MYH9 Eleanor Williams Source NHS GMS was added to MYH9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 MAGI2 Eleanor Williams gene: MAGI2 was added
gene: MAGI2 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: MAGI2 was set to
Proteinuric renal disease v1.15 LMX1B Eleanor Williams Source NHS GMS was added to LMX1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 LAMB2 Eleanor Williams Source NHS GMS was added to LAMB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 LAGE3 Eleanor Williams gene: LAGE3 was added
gene: LAGE3 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: LAGE3 was set to
Proteinuric renal disease v1.15 ITSN1 Eleanor Williams gene: ITSN1 was added
gene: ITSN1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: ITSN1 was set to
Proteinuric renal disease v1.15 INF2 Eleanor Williams Source NHS GMS was added to INF2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 GLA Eleanor Williams gene: GLA was added
gene: GLA was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: GLA was set to
Proteinuric renal disease v1.15 FAT1 Eleanor Williams gene: FAT1 was added
gene: FAT1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: FAT1 was set to
Proteinuric renal disease v1.15 EMP2 Eleanor Williams Source NHS GMS was added to EMP2.
Rating Changed from No List (delete) to Red List (low evidence)
Proteinuric renal disease v1.15 DLC1 Eleanor Williams gene: DLC1 was added
gene: DLC1 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: DLC1 was set to
Proteinuric renal disease v1.15 DHFR Eleanor Williams Source NHS GMS was added to DHFR.
Proteinuric renal disease v1.15 CUBN Eleanor Williams Source NHS GMS was added to CUBN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 CRB2 Eleanor Williams Source NHS GMS was added to CRB2.
Rating Changed from No List (delete) to Red List (low evidence)
Proteinuric renal disease v1.15 COQ8B Eleanor Williams gene: COQ8B was added
gene: COQ8B was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: COQ8B was set to
Proteinuric renal disease v1.15 COQ6 Eleanor Williams Source NHS GMS was added to COQ6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 COQ2 Eleanor Williams Source NHS GMS was added to COQ2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 COL4A5 Eleanor Williams Source NHS GMS was added to COL4A5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 COL4A4 Eleanor Williams Source NHS GMS was added to COL4A4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 COL4A3 Eleanor Williams Source NHS GMS was added to COL4A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 CLCN5 Eleanor Williams Source NHS GMS was added to CLCN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Proteinuric renal disease v1.15 ACTN4 Eleanor Williams Source NHS GMS was added to ACTN4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.15 RYR2 Anna de Burca reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:19926015, 17875969; Phenotypes: Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Classified gene: TTR as Green List (high evidence)
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Added comment: Comment on list classification: Promoted to green following discussion with NHS GMS cardiology specialist group. Cardiac amyloidosis is associated with thickening of the ventricular wall which can resemble hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Gene: ttr has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.38 TTR Anna de Burca Phenotypes for gene: TTR were changed from syndromic HCM to Cardiac amyloidosis
Hypertrophic cardiomyopathy v1.38 TTR Anna de Burca Phenotypes for gene: TTR were changed from syndromic HCM to Cardiac amyloidosis
Mosaic skin disorders - deep sequencing v0.5 RHOA Rebecca Foulger Classified gene: RHOA as No list
Mosaic skin disorders - deep sequencing v0.5 RHOA Rebecca Foulger Added comment: Comment on list classification: Removed from the panel as suggested by V. Kinsler (email discussion).
Mosaic skin disorders - deep sequencing v0.5 RHOA Rebecca Foulger Gene: rhoa has been removed from the panel.
Pigmentary skin disorders v0.5 MAP2K1 Rebecca Foulger Classified gene: MAP2K1 as No list
Pigmentary skin disorders v0.5 MAP2K1 Rebecca Foulger Added comment: Comment on list classification: Removed from the panel as suggested by V. Kinsler (email discussion).
Pigmentary skin disorders v0.5 MAP2K1 Rebecca Foulger Gene: map2k1 has been removed from the panel.
Early onset or syndromic epilepsy v1.13 NECAP1 Konstantinos Varvagiannis reviewed gene: NECAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24399846, 30525121, 30626896; Phenotypes: ?Epileptic encephalopathy, early infantile 21, 615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.621 NECAP1 Konstantinos Varvagiannis gene: NECAP1 was added
gene: NECAP1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: NECAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECAP1 were set to 24399846; 30525121; 30626896
Phenotypes for gene: NECAP1 were set to ?Epileptic encephalopathy, early infantile 21, 615833
Penetrance for gene: NECAP1 were set to Complete
Review for gene: NECAP1 was set to GREEN
gene: NECAP1 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in NECAP1 cause ?Epileptic encephalopathy, early infantile, 21 (MIM 615833).
----
PMID: 24399846 (Alazami et al. 2014) report on 6 individuals from an multigenerational family from Saudi Arabia with biallelic NECAP1 nonsense variant. The common phenotype consisted of hypotonia, profound global developmental delay preceding the onset of intractable seizures (fragmented multifocal clonic and tonic) in early infancy. Initial workup excluded metabolic causes.

4 of these individuals were born to first cousins once removed, while 2 additional affected subjects from the broader pedigree were born to seemingly unrelated parents from the same region. All affected individuals shared a single autozygous 4.78-Mb interval on chromosome 12p. Linkage analysis confirmed involvement of this locus (LOD score : 5.0447). Exome sequencing demonstrated homozygosity for a nonsense variant (NM_015509.3:c.142C>T - p.R48*). mRNA levels in lymphoblast cell lines from affected subjects were significantly reduced when compared to controls, probably due to NMD.

Necap1 was shown to be strongly expressed in the developing (E14.5) mouse brain and spinal cord, upon immunohistochemical analysis (part of the current study).

NECAP1 has been previously shown to have a functional role in Clathrin-mediated encocytocis (CME), a process which plays a critical role at the site of synapsis (in synaptic vesicle recycling).
----
PMID: 30525121 (Alsahli et al. 2018) report on a 41-month-old girl with hypotonia, profound global developmental delay and onset of seizures at the age of 3 months (generalized tonic and clonic / flexor hemispasms). Initial workup was negative for an eventual metabolic origin. The girl was born to consanguineous Saudi parents and was found to harbor the p.R48* variant in the homozygous state, following trio-WES.
----
PMID: 30626896 (Mizuguchi et al. 2019) report on a 16-month-old boy, born to consanguineous parents from Malaysia. This individual presented with axial hypotonia and profound developmental delay and developed generalized tonic-clonic and clonic seizures at the (corrected) age of 3 months. EEG demonstrated a burst suppression pattern and a clinical diagnosis of Ohtahara syndrome was retained. Metabolic workup was normal.

Homozygosity for a splice-site NECAP1 variant (NM_015509.3:c.301+1G>A) was demonstrated following exome sequencing. The variant was shown to result in inclusion of a 44-bp intron, resulting in frameshift and introduction of a premature termination codon (p.Gly101Aspfs*45). The level of abnormal transcript was 2-fold increased in lymphoblast cells trated with cycloheximide when compared to cells treated with DMSO, suggesting involvement of NMD.

As also in PMID: 30525121, the present study suggests similarities with the DNM1-related phenotype (Epileptic encephalopathy, early infantile, 31 - #616346 - DNM1 is rated green in the ID panel) as DNM1 also participates in vesicle recycling. The authors of the present study also note that mutations in CLTC (encoding clathrin heavy chain) cause hypotonia with DD/ID with or without epilepsy (Mental retardation, autosomal dominant 56 - #617854 - CLTC is rated green in the ID panel).
----
NECAP1 is not associated with any phenotype in G2P.
This gene is included in gene panels for ID offered by some diagnostic laboratories.
----
As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Haematuria v1.18 NPHS2 Eleanor Williams reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26138234; Phenotypes: ?Modifier of COL4A variants; Mode of inheritance: Unknown; Current diagnostic: yes
Haematuria v1.18 MYH9 Eleanor Williams reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 12792306, 22627578; Phenotypes: Epstein syndrome #153650, Fechtner syndrome #153640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Haematuria v1.18 COL4A6 Eleanor Williams reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Haematuria v1.18 COL4A5 Eleanor Williams reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29987460, 29270492; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Haematuria v1.18 COL4A4 Eleanor Williams reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Haematuria v1.18 COL4A3 Eleanor Williams reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Haematuria v1.18 COL4A1 Eleanor Williams reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 27190376, 19238787; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #61173; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Haematuria v1.18 CFHR5 Eleanor Williams reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID:23402027; Phenotypes: Nephropathy due to CFHR5 deficiency #614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria v1.17 NPHS2 Eleanor Williams Source NHS GMS was added to NPHS2.
Haematuria v1.17 MYH9 Eleanor Williams Source NHS GMS was added to MYH9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A6 Eleanor Williams Source NHS GMS was added to COL4A6.
Haematuria v1.17 COL4A5 Eleanor Williams Source NHS GMS was added to COL4A5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A4 Eleanor Williams Source NHS GMS was added to COL4A4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A3 Eleanor Williams Source NHS GMS was added to COL4A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 COL4A1 Eleanor Williams Source NHS GMS was added to COL4A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Haematuria v1.17 CFHR5 Eleanor Williams Source NHS GMS was added to CFHR5.
Renal tubulopathies v1.16 GATM Eleanor Williams reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: Reichold et al 2018 J Am Soc Nephrol 29(7): 1849-1858. PMID: 29654216; Phenotypes: Renal fanconi syndrome and kidney failure (no MIM number), Cerebral creatine deficiency syndrome 3, MIM 612718 (AR); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.16 GNAS Eleanor Williams reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: Biebermann et al 2018 PMID: 30312418; Phenotypes: Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes
Renal tubulopathies v1.16 MAGED2 Eleanor Williams reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: Laghmani et al 2016 N Eng J Med 374: 1853-1863. PMID: 27120771; Phenotypes: Bartter syndrome, type 5, antenatal, transient, MIM 300971; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal tubulopathies v1.16 FOXI1 Eleanor Williams reviewed gene: FOXI1: Rating: AMBER; Mode of pathogenicity: ; Publications: Enerback et al 2018 J Am Soc Nephrol 29 (3): 1041-1048. PMID: 29242249; Phenotypes: Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number), Enlarged vestibular aqueducts, MIM 6007910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.16 ATP1A1 Eleanor Williams reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: Schlingmann et al 2018 Am J Hum Genet 103 (5) 808-816. PMID: 30388404; Phenotypes: Renal hypomagnesemia, refractory seizures and intellectual disability (no OMIM number), Charcot-Marie-Tooth disease, axonal, type 2DD, MIM 618036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.16 CLDN10 Eleanor Williams reviewed gene: CLDN10: Rating: AMBER; Mode of pathogenicity: ; Publications: Bongers et al 2017 J Am Soc Nephrol 28 (10): 3118-3128. PMID 19307729; Phenotypes: Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number), HELIX syndrome, MIM 617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.16 WNK4 Eleanor Williams reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 WNK1 Eleanor Williams reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IIC, MIM 614492, Neuropathy, hereditary sensory and autonomic, type II, MIM 201300 (AR); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 UMOD Eleanor Williams reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperuricemic nephropathy, familial juvenile 1, MIM 162000, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, MIM 609886, Medullary cystic kidney disease 2, MIM 603860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 TRPM6 Eleanor Williams reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 1, intestinal, MIM 602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC9A3R1 Eleanor Williams reviewed gene: SLC9A3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 SLC5A2 Eleanor Williams reviewed gene: SLC5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal glucosuria, MIM 233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC4A4 Eleanor Williams reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, MIM 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC4A1 Eleanor Williams reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, distal, AD, MIM 179800, Renal tubular acidosis, distal, AR, MIM 611590, Cryohydrocytosis, MIM 185020, Ovalocystois, SA type MIM 166900, Spherocytoisis type 4, MIM 612653, various blood group associations.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC34A3 Eleanor Williams reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MM 241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC34A1 Eleanor Williams reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypercalcemia, infantile, 2, MIM 616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM 612286, ?Fanconi renotubular syndrome 2 MIM 613388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC2A9 Eleanor Williams reviewed gene: SLC2A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypouricemia, renal, 2, MIM 612076, {Uric acid concentration, serum, QTL 2} MIM 612076; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC22A12 Eleanor Williams reviewed gene: SLC22A12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypouricemia, renal, MIM 220150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC12A3 Eleanor Williams reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gitelman syndrome, MIM 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SLC12A1 Eleanor Williams reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SCNN1G Eleanor Williams reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SCNN1B Eleanor Williams reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 SCNN1A Eleanor Williams reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM 264350, ? Liddle syndrom 3, MIM 618126, Bronchiectasis with or without elevated sweat chloride 2 MIM 613021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 REN Eleanor Williams reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperuricemic nephropathy, familial juvenile 2, MIM 613092, Also Renal tubular dysgenesis MIM 267430 AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 OCRL Eleanor Williams reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dent disease 2, MIM 300555. Lowe syndrome, MIM 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Renal tubulopathies v1.16 NR3C2 Eleanor Williams reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM 177735, Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy MIM 605115 no inheritance pattern; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 KLHL3 Eleanor Williams reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IID, MIM 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 KCNJ10 Eleanor Williams reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SESAME/EAST syndrome, MIM 612780, Enlarged vestibular aqueduct, digenic, MIM 600791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 KCNJ1 Eleanor Williams reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 KCNA1 Eleanor Williams reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: Glaudemans et al J Clin Invest.2009 Apr 119(4):936-42. PMID 19307729 ; Phenotypes: Autosomal dominant hypomagnesemia (no MIM #), Episodic ataxia/myokymia syndrome MIM 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 HNF1B Eleanor Williams reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM 137920, Diabetes mellitus, noninsulin-dependent, MIM 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 GNA11 Eleanor Williams reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM 615361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 FXYD2 Eleanor Williams reviewed gene: FXYD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 2, renal MIM 154020; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 EHHADH Eleanor Williams reviewed gene: EHHADH: Rating: RED; Mode of pathogenicity: ; Publications: Klootwijk et al New Eng. J. Med. 370: 129-138, 2014. PubMed: 24401050; Phenotypes: ?Fanconi renotubular syndrome 3 MIM 605615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 EGF Eleanor Williams reviewed gene: EGF: Rating: RED; Mode of pathogenicity: ; Publications: Groenestege et al J. Clin. Invest. 117: 2260-2267, 2007. PubMed: 17671655; Phenotypes: Hypomagnesemia 4, renal, MIM 611718.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 CYP24A1 Eleanor Williams reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypercalcemia, infantile, 1 MIM 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 CUL3 Eleanor Williams reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IIE, MIM 214496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 CTNS Eleanor Williams reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cystinosis, nephropathic MIM 219800. Cystinosis, ocular nonnephropathic MIM 219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 CLDN19 Eleanor Williams reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM 248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 CLDN16 Eleanor Williams reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 3, renal MIM 248250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 CLCNKB Eleanor Williams reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 3, MIM 607394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 CLCNKA Eleanor Williams reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: ; Publications: Nozu et al J. Med. Genet. 45: 182-186, 2008. PubMed: 18310267; Phenotypes: Bartter syndrome, type 4b, digenic MIM 613090; Mode of inheritance: Unknown; Current diagnostic: yes
Renal tubulopathies v1.16 CLCN5 Eleanor Williams reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dent disease, MIM 300009. Hypophosphatemic rickets, MIM 300554. Nephrolithiasis, type I, MIM 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM 308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Renal tubulopathies v1.16 CASR Eleanor Williams reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypocalcemia, autosomal dominant, (with Bartter syndrome) MIM 601198, Hypocalciuric hypercalcemia, type I MIM 145980, Hyperparathyroidism, neonatal MIM 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 CA2 Eleanor Williams reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis MIM 259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 BSND Eleanor Williams reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome type 4a, Sensorineural deafness with mild renal dysfunction MIM 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 AVPR2 Eleanor Williams reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Nephrogenic diabetes insipidus MIM 304800, Nephrogenic syndrome of inappropriate antidiuresis MIM 300539; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Renal tubulopathies v1.16 ATP6V1B1 Eleanor Williams reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis with deafness MIM 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 ATP6V0A4 Eleanor Williams reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive distal renal tubular acidosis MIM 602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 AQP2 Eleanor Williams reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrogenic diabetes insipidus, MIM 125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.16 AP2S1 Eleanor Williams reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial hypocalciuric hypercalcemia type III MIM 600740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Renal tubulopathies v1.16 ABCG2 Eleanor Williams reviewed gene: ABCG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Serum uric acid concentration and susceptibility to gout MIM 138900; Mode of inheritance: Unknown
Renal tubulopathies v1.15 GATM Eleanor Williams gene: GATM was added
gene: GATM was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: GATM was set to
Renal tubulopathies v1.15 GNAS Eleanor Williams gene: GNAS was added
gene: GNAS was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: GNAS was set to
Renal tubulopathies v1.15 MAGED2 Eleanor Williams gene: MAGED2 was added
gene: MAGED2 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: MAGED2 was set to
Renal tubulopathies v1.15 FOXI1 Eleanor Williams Source NHS GMS was added to FOXI1.
Renal tubulopathies v1.15 ATP1A1 Eleanor Williams gene: ATP1A1 was added
gene: ATP1A1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: ATP1A1 was set to
Renal tubulopathies v1.15 CLDN10 Eleanor Williams gene: CLDN10 was added
gene: CLDN10 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CLDN10 was set to
Renal tubulopathies v1.15 WNK4 Eleanor Williams gene: WNK4 was added
gene: WNK4 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: WNK4 was set to
Renal tubulopathies v1.15 WNK1 Eleanor Williams gene: WNK1 was added
gene: WNK1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: WNK1 was set to
Renal tubulopathies v1.15 UMOD Eleanor Williams gene: UMOD was added
gene: UMOD was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: UMOD was set to
Renal tubulopathies v1.15 TRPM6 Eleanor Williams Source NHS GMS was added to TRPM6.
Renal tubulopathies v1.15 SLC9A3R1 Eleanor Williams gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SLC9A3R1 was set to
Renal tubulopathies v1.15 SLC5A2 Eleanor Williams gene: SLC5A2 was added
gene: SLC5A2 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SLC5A2 was set to
Renal tubulopathies v1.15 SLC4A4 Eleanor Williams Source NHS GMS was added to SLC4A4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 SLC4A1 Eleanor Williams Source NHS GMS was added to SLC4A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 SLC34A3 Eleanor Williams gene: SLC34A3 was added
gene: SLC34A3 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SLC34A3 was set to
Renal tubulopathies v1.15 SLC34A1 Eleanor Williams gene: SLC34A1 was added
gene: SLC34A1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SLC34A1 was set to
Renal tubulopathies v1.15 SLC2A9 Eleanor Williams gene: SLC2A9 was added
gene: SLC2A9 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SLC2A9 was set to
Renal tubulopathies v1.15 SLC22A12 Eleanor Williams gene: SLC22A12 was added
gene: SLC22A12 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SLC22A12 was set to
Renal tubulopathies v1.15 SLC12A3 Eleanor Williams Source NHS GMS was added to SLC12A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 SLC12A1 Eleanor Williams Source NHS GMS was added to SLC12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 SCNN1G Eleanor Williams gene: SCNN1G was added
gene: SCNN1G was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SCNN1G was set to
Renal tubulopathies v1.15 SCNN1B Eleanor Williams Source NHS GMS was added to SCNN1B.
Renal tubulopathies v1.15 SCNN1A Eleanor Williams gene: SCNN1A was added
gene: SCNN1A was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: SCNN1A was set to
Renal tubulopathies v1.15 REN Eleanor Williams gene: REN was added
gene: REN was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: REN was set to
Renal tubulopathies v1.15 OCRL Eleanor Williams gene: OCRL was added
gene: OCRL was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: OCRL was set to
Renal tubulopathies v1.15 NR3C2 Eleanor Williams gene: NR3C2 was added
gene: NR3C2 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: NR3C2 was set to
Renal tubulopathies v1.15 KLHL3 Eleanor Williams gene: KLHL3 was added
gene: KLHL3 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: KLHL3 was set to
Renal tubulopathies v1.15 KCNJ10 Eleanor Williams gene: KCNJ10 was added
gene: KCNJ10 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: KCNJ10 was set to
Renal tubulopathies v1.15 KCNJ1 Eleanor Williams Source NHS GMS was added to KCNJ1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 KCNA1 Eleanor Williams gene: KCNA1 was added
gene: KCNA1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: KCNA1 was set to
Renal tubulopathies v1.15 HNF1B Eleanor Williams gene: HNF1B was added
gene: HNF1B was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: HNF1B was set to
Renal tubulopathies v1.15 GNA11 Eleanor Williams gene: GNA11 was added
gene: GNA11 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: GNA11 was set to
Renal tubulopathies v1.15 FXYD2 Eleanor Williams gene: FXYD2 was added
gene: FXYD2 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: FXYD2 was set to
Renal tubulopathies v1.15 EHHADH Eleanor Williams Source NHS GMS was added to EHHADH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 EGF Eleanor Williams gene: EGF was added
gene: EGF was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: EGF was set to
Renal tubulopathies v1.15 CYP24A1 Eleanor Williams gene: CYP24A1 was added
gene: CYP24A1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CYP24A1 was set to
Renal tubulopathies v1.15 CUL3 Eleanor Williams gene: CUL3 was added
gene: CUL3 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CUL3 was set to
Renal tubulopathies v1.15 CTNS Eleanor Williams Source NHS GMS was added to CTNS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 CLDN19 Eleanor Williams gene: CLDN19 was added
gene: CLDN19 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CLDN19 was set to
Renal tubulopathies v1.15 CLDN16 Eleanor Williams gene: CLDN16 was added
gene: CLDN16 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CLDN16 was set to
Renal tubulopathies v1.15 CLCNKB Eleanor Williams Source NHS GMS was added to CLCNKB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 CLCNKA Eleanor Williams gene: CLCNKA was added
gene: CLCNKA was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CLCNKA was set to
Renal tubulopathies v1.15 CLCN5 Eleanor Williams gene: CLCN5 was added
gene: CLCN5 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CLCN5 was set to
Renal tubulopathies v1.15 CASR Eleanor Williams gene: CASR was added
gene: CASR was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: CASR was set to
Renal tubulopathies v1.15 CA2 Eleanor Williams Source NHS GMS was added to CA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 BSND Eleanor Williams Source NHS GMS was added to BSND.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 AVPR2 Eleanor Williams Source NHS GMS was added to AVPR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 ATP6V1B1 Eleanor Williams Source NHS GMS was added to ATP6V1B1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 ATP6V0A4 Eleanor Williams Source NHS GMS was added to ATP6V0A4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 AQP2 Eleanor Williams Source NHS GMS was added to AQP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Renal tubulopathies v1.15 AP2S1 Eleanor Williams gene: AP2S1 was added
gene: AP2S1 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: AP2S1 was set to
Renal tubulopathies v1.15 ABCG2 Eleanor Williams gene: ABCG2 was added
gene: ABCG2 was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: ABCG2 was set to
Hereditary systemic amyloidosis v0.4 TTR Eleanor Williams reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 30328212, 14640030; Phenotypes: 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 LYZ Eleanor Williams reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988333; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 GSN Eleanor Williams reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25342098, 24601799, 22938848; Phenotypes: 105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 FGA Eleanor Williams reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29142973, 23551149, 19073821; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 CST3 Eleanor Williams reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: ; Publications: 2900981; Phenotypes: 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 B2M Eleanor Williams reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693999; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 APOC3 Eleanor Williams reviewed gene: APOC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26790392; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 APOC2 Eleanor Williams reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30197986, 27297947; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 APOA2 Eleanor Williams reviewed gene: APOA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29270531, 12787390, 11401442, 11703582; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.4 APOA1 Eleanor Williams reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820994, 16925563, 27240838; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.3 TTR Eleanor Williams gene: TTR was added
gene: TTR was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 30328212; 14640030
Phenotypes for gene: TTR were set to 105210
Hereditary systemic amyloidosis v0.3 LYZ Eleanor Williams gene: LYZ was added
gene: LYZ was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LYZ were set to 21988333
Phenotypes for gene: LYZ were set to 105200
Hereditary systemic amyloidosis v0.3 GSN Eleanor Williams gene: GSN was added
gene: GSN was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GSN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GSN were set to 24601799; 25342098; 22938848
Phenotypes for gene: GSN were set to 105120
Hereditary systemic amyloidosis v0.3 FGA Eleanor Williams gene: FGA was added
gene: FGA was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGA were set to 19073821; 29142973; 23551149
Phenotypes for gene: FGA were set to 105200
Hereditary systemic amyloidosis v0.3 CST3 Eleanor Williams gene: CST3 was added
gene: CST3 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 2900981
Phenotypes for gene: CST3 were set to 105150
Hereditary systemic amyloidosis v0.3 B2M Eleanor Williams gene: B2M was added
gene: B2M was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: B2M was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: B2M were set to 22693999
Phenotypes for gene: B2M were set to 105200
Hereditary systemic amyloidosis v0.3 APOC3 Eleanor Williams gene: APOC3 was added
gene: APOC3 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOC3 were set to 26790392
Hereditary systemic amyloidosis v0.3 APOC2 Eleanor Williams gene: APOC2 was added
gene: APOC2 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOC2 were set to 30197986; 27297947
Hereditary systemic amyloidosis v0.3 APOA2 Eleanor Williams gene: APOA2 was added
gene: APOA2 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA2 were set to 29270531; 11703582; 12787390; 11401442
Hereditary systemic amyloidosis v0.3 APOA1 Eleanor Williams gene: APOA1 was added
gene: APOA1 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA1 were set to 27240838; 21820994; 16925563
Phenotypes for gene: APOA1 were set to 105200
Tubulointerstitial kidney disease v0.3 ADAMTS9 Eleanor Williams reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: Choi et al Am J Hum Genet. 2019.104(1):45-54. PMID: 30609407; Phenotypes: Nephronophthisis-Related Ciliopathy (no OMIM number yet); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 GATM Eleanor Williams reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Renal fanconi syndrome and kidney failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 SEC61A1 Eleanor Williams reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 DNAJB11 Eleanor Williams reviewed gene: DNAJB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 XPNPEP3 Eleanor Williams reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: O'Toole et al J. Clin. Invest. 120: 791-802, 2010. PubMed: 20179356; Phenotypes: Nephronopthisis-like nephropathy 1 MIM 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NEK8 Eleanor Williams reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Nephronopthisis 9 MIM 613824; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 ZNF423 Eleanor Williams reviewed gene: ZNF423: Rating: GREEN; Mode of pathogenicity: ; Publications: Chaki et al Cell 150: 533-548, 2012. PubMed: 22863007; Phenotypes: Nephronopthisis 14, Joubert syndrome 19 MIM 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 GLIS2 Eleanor Williams reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 7 MIM 611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 MAPKBP1 Eleanor Williams reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: Macia et al Am. J. Hum. Genet. 100: 323-333, 2017. PubMed: 28089251; Phenotypes: Nephronopthisis 20 MIM 6175271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 CEP83 Eleanor Williams reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 18 MIM 615862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 CEP164 Eleanor Williams reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 15 MIM 614845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 INVS Eleanor Williams reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 2, infantile MIM 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 ANKS6 Eleanor Williams reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: ; Publications: Hoff et al Nature Genet. 45: 951-956, 2013. PubMed: 2379302; Phenotypes: Nephronopthisis 16 MIM 615382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 TMEM67 Eleanor Williams reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 11 MIM 613550, ?RHYNS syndrome MIM 602152, COACH syndrome, MIM 216306, ?RHYNS syndrome 602152 AR 3, COACH syndrome 216360 AR 3, Joubert syndrome 6, MIM 610688, Meckel syndrome 3, MIM 607361, {Bardet-Biedl syndrome 14, modifier of} MIM 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 DCDC2 Eleanor Williams reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Schueler (2015) Am J Hum Genet 96, 81 PMID 25557784 ; Phenotypes: Nephronopthisis 19 MIM 616217, Sclerosing cholangitis, neonatal MIM 617394, ?Deafness, autosomal recessive 66 MIM 610212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 WDR19 Eleanor Williams reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 13 MIM 614377, Senior-Loken syndrome 8, MIM 616307, ?Cranioectodermal dysplasia 4, MIM 614378, ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NPHP3 Eleanor Williams reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 3 MIM 604387, Meckel syndrome 7, MIM 267010, Renal-hepatic-pancreatic dysplasia 1, MIM 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 12 MIM 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NPHP1 Eleanor Williams reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 1, juvenile MIM 256100, Senior-Loken syndrome-1 MIM 266900, Joubert syndrome 4 MIM 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NPHP4 Eleanor Williams reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: Mollet et al 2002 PMID: 12244321, Otto et al 2002 PMID: 12205563; Phenotypes: Nephronopthisis 4 MIM 606966, Senior-Loken syndrome 4 MIM 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 REN Eleanor Williams reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: ; Publications: Zivna et al 2009 PMID: 19664745, Gribouval et al 2005 PMID: 16116425; Phenotypes: Familial juvenile Hyperuricemic nephropathy-2 MIM 613092, Renal tubular dysgenesis MIM 267430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 HNF1B Eleanor Williams reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: Edghill et al 2006 PMID: 15930087; Phenotypes: Renal cysts and diabetes syndrome MIM 137920, NIDDM MIM 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 UMOD Eleanor Williams reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: Hart et al 2002 PMID: 12471200, Dahan et al 2003 PMID: 14569098; Phenotypes: Medullary cystic kidney disease 2 MIM 603860, Familial juvenile hyperuricemic nephropathy 1 MIM 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 MUC1 Eleanor Williams reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: Kirby et al 2013 PMID: 23396133; Phenotypes: Medullary cystic kidney disease 1 MIM 174000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.2 ADAMTS9 Eleanor Williams gene: ADAMTS9 was added
gene: ADAMTS9 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy (no OMIM number yet)
Tubulointerstitial kidney disease v0.2 GATM Eleanor Williams gene: GATM was added
gene: GATM was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATM were set to Renal fanconi syndrome and kidney failure
Mode of pathogenicity for gene: GATM was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Tubulointerstitial kidney disease v0.2 SEC61A1 Eleanor Williams gene: SEC61A1 was added
gene: SEC61A1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC61A1 were set to Familial juvenile Hyperuricemic nephropathy-4 MIM 617056
Tubulointerstitial kidney disease v0.2 DNAJB11 Eleanor Williams gene: DNAJB11 was added
gene: DNAJB11 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061
Tubulointerstitial kidney disease v0.2 XPNPEP3 Eleanor Williams gene: XPNPEP3 was added
gene: XPNPEP3 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 20179356
Phenotypes for gene: XPNPEP3 were set to Nephronopthisis-like nephropathy 1 MIM 613159
Tubulointerstitial kidney disease v0.2 NEK8 Eleanor Williams gene: NEK8 was added
gene: NEK8 was added to Tubulointerstitial kidney disease. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NEK8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to ?Nephronopthisis 9 MIM 613824
Tubulointerstitial kidney disease v0.2 ZNF423 Eleanor Williams gene: ZNF423 was added
gene: ZNF423 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ZNF423 were set to 22863007
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 MIM 614844; Nephronopthisis 14
Tubulointerstitial kidney disease v0.2 GLIS2 Eleanor Williams gene: GLIS2 was added
gene: GLIS2 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS2 were set to Nephronopthisis 7 MIM 611498
Tubulointerstitial kidney disease v0.2 MAPKBP1 Eleanor Williams gene: MAPKBP1 was added
gene: MAPKBP1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to Nephronopthisis 20 MIM 6175271
Tubulointerstitial kidney disease v0.2 CEP83 Eleanor Williams gene: CEP83 was added
gene: CEP83 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP83 were set to Nephronopthisis 18 MIM 615862
Tubulointerstitial kidney disease v0.2 CEP164 Eleanor Williams gene: CEP164 was added
gene: CEP164 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronopthisis 15 MIM 614845
Tubulointerstitial kidney disease v0.2 INVS Eleanor Williams gene: INVS was added
gene: INVS was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronopthisis 2, infantile MIM 602088
Tubulointerstitial kidney disease v0.2 ANKS6 Eleanor Williams gene: ANKS6 was added
gene: ANKS6 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKS6 were set to 2379302
Phenotypes for gene: ANKS6 were set to Nephronopthisis 16 MIM 615382
Tubulointerstitial kidney disease v0.2 TMEM67 Eleanor Williams gene: TMEM67 was added
gene: TMEM67 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to ?RHYNS syndrome MIM 602152; COACH syndrome 216360 AR 3; {Bardet-Biedl syndrome 14, modifier of} MIM 615991; ?RHYNS syndrome 602152 AR 3; COACH syndrome, MIM 216306; Joubert syndrome 6, MIM 610688; Nephronopthisis 11 MIM 613550; Meckel syndrome 3, MIM 607361
Tubulointerstitial kidney disease v0.2 DCDC2 Eleanor Williams gene: DCDC2 was added
gene: DCDC2 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCDC2 were set to 25557784
Phenotypes for gene: DCDC2 were set to Sclerosing cholangitis, neonatal MIM 617394; ?Deafness, autosomal recessive 66 MIM 610212; Nephronopthisis 19 MIM 616217
Tubulointerstitial kidney disease v0.2 WDR19 Eleanor Williams gene: WDR19 was added
gene: WDR19 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Nephronopthisis 13 MIM 614377; ?Cranioectodermal dysplasia 4, MIM 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376; Senior-Loken syndrome 8, MIM 616307
Tubulointerstitial kidney disease v0.2 NPHP3 Eleanor Williams gene: NPHP3 was added
gene: NPHP3 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM 208540; Meckel syndrome 7, MIM 267010; Nephronopthisis 3 MIM 604387
Tubulointerstitial kidney disease v0.2 TTC21B Eleanor Williams gene: TTC21B was added
gene: TTC21B was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TTC21B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819; Nephronopthisis 12 MIM 613820
Tubulointerstitial kidney disease v0.2 NPHP1 Eleanor Williams gene: NPHP1 was added
gene: NPHP1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4 MIM 609583; Senior-Loken syndrome-1 MIM 266900; Nephronopthisis 1, juvenile MIM 256100
Tubulointerstitial kidney disease v0.2 NPHP4 Eleanor Williams gene: NPHP4 was added
gene: NPHP4 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP4 were set to 12244321; 12205563
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4 MIM 606996; Nephronopthisis 4 MIM 606966
Tubulointerstitial kidney disease v0.2 REN Eleanor Williams gene: REN was added
gene: REN was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: REN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: REN were set to 16116425; 19664745
Phenotypes for gene: REN were set to Renal tubular dysgenesis MIM 267430; Familial juvenile Hyperuricemic nephropathy-2 MIM 613092
Tubulointerstitial kidney disease v0.2 HNF1B Eleanor Williams gene: HNF1B was added
gene: HNF1B was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 15930087
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome MIM 137920; NIDDM MIM 125853
Tubulointerstitial kidney disease v0.2 UMOD Eleanor Williams gene: UMOD was added
gene: UMOD was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UMOD were set to 12471200; 14569098
Phenotypes for gene: UMOD were set to Medullary cystic kidney disease 2 MIM 603860; Familial juvenile hyperuricemic nephropathy 1 MIM 162000
Mode of pathogenicity for gene: UMOD was set to Other - please provide details in the comments
Tubulointerstitial kidney disease v0.2 MUC1 Eleanor Williams gene: MUC1 was added
gene: MUC1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MUC1 were set to 23396133
Phenotypes for gene: MUC1 were set to Medullary cystic kidney disease 1 MIM 174000
Mode of pathogenicity for gene: MUC1 was set to Other - please provide details in the comments
Mitochondrial disorder with complex IV deficiency v0.3 TACO1 Ivone Leong reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 SURF1 Ivone Leong reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, due to COX IV deficiency, 256000, Charcot-Marie-Tooth disease, type 4K, 616684; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 SCO2 Ivone Leong reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 SCO1 Ivone Leong reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 PET117 Ivone Leong reviewed gene: PET117: Rating: GREEN; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 PET100 Ivone Leong reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 OXA1L Ivone Leong reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 NDUFA4 Ivone Leong reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 LRPPRC Ivone Leong reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, French-Canadian type, 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 FASTKD2 Ivone Leong reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28499982; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX8A Ivone Leong reviewed gene: COX8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX7C Ivone Leong reviewed gene: COX7C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX7B Ivone Leong reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 2, 300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorder with complex IV deficiency v0.3 COX7A1 Ivone Leong reviewed gene: COX7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6C Ivone Leong reviewed gene: COX6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6B2 Ivone Leong reviewed gene: COX6B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6B1 Ivone Leong reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX6A2 Ivone Leong reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6A1 Ivone Leong reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate D, 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX5B Ivone Leong reviewed gene: COX5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX5A Ivone Leong reviewed gene: COX5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: Pulmonary arterial hypertension, lactic acidemia, and failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX4I2 Ivone Leong reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX4I1 Ivone Leong reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX20 Ivone Leong reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX19 Ivone Leong reviewed gene: COX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX18 Ivone Leong reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX17 Ivone Leong reviewed gene: COX17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX16 Ivone Leong reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX15 Ivone Leong reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX14 Ivone Leong reviewed gene: COX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX11 Ivone Leong reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX10 Ivone Leong reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA7 Ivone Leong reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA6 Ivone Leong reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA5 Ivone Leong reviewed gene: COA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA4 Ivone Leong reviewed gene: COA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COA3 Ivone Leong reviewed gene: COA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604084; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA1 Ivone Leong reviewed gene: COA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 CEP89 Ivone Leong reviewed gene: CEP89: Rating: GREEN; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 APOPT1 Ivone Leong reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.2 TACO1 Ivone Leong gene: TACO1 was added
gene: TACO1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 SURF1 Ivone Leong gene: SURF1 was added
gene: SURF1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Mitochondrial disorder with complex IV deficiency v0.2 SCO2 Ivone Leong gene: SCO2 was added
gene: SCO2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Mitochondrial disorder with complex IV deficiency v0.2 SCO1 Ivone Leong gene: SCO1 was added
gene: SCO1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 PET117 Ivone Leong gene: PET117 was added
gene: PET117 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 PET100 Ivone Leong gene: PET100 was added
gene: PET100 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 OXA1L Ivone Leong gene: OXA1L was added
gene: OXA1L was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 NDUFA4 Ivone Leong gene: NDUFA4 was added
gene: NDUFA4 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447, 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 LRPPRC Ivone Leong gene: LRPPRC was added
gene: LRPPRC was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111
Mitochondrial disorder with complex IV deficiency v0.2 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX8A Ivone Leong gene: COX8A was added
gene: COX8A was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX7C Ivone Leong gene: COX7C was added
gene: COX7C was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7C was set to Unknown
Phenotypes for gene: COX7C were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Mitochondrial disorder with complex IV deficiency v0.2 COX7A1 Ivone Leong gene: COX7A1 was added
gene: COX7A1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7A1 was set to Unknown
Phenotypes for gene: COX7A1 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6C Ivone Leong gene: COX6C was added
gene: COX6C was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6C was set to Unknown
Phenotypes for gene: COX6C were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6B2 Ivone Leong gene: COX6B2 was added
gene: COX6B2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B2 was set to Unknown
Phenotypes for gene: COX6B2 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6B1 Ivone Leong gene: COX6B1 was added
gene: COX6B1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX6A2 Ivone Leong gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A2 was set to Unknown
Phenotypes for gene: COX6A2 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6A1 Ivone Leong gene: COX6A1 was added
gene: COX6A1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Mitochondrial disorder with complex IV deficiency v0.2 COX5B Ivone Leong gene: COX5B was added
gene: COX5B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5B was set to Unknown
Phenotypes for gene: COX5B were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX5A Ivone Leong gene: COX5A was added
gene: COX5A was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 28247525
Phenotypes for gene: COX5A were set to Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Mitochondrial disorder with complex IV deficiency v0.2 COX4I2 Ivone Leong gene: COX4I2 was added
gene: COX4I2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Mitochondrial disorder with complex IV deficiency v0.2 COX4I1 Ivone Leong gene: COX4I1 was added
gene: COX4I1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX20 Ivone Leong gene: COX20 was added
gene: COX20 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX19 Ivone Leong gene: COX19 was added
gene: COX19 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX19 was set to Unknown
Phenotypes for gene: COX19 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX18 Ivone Leong gene: COX18 was added
gene: COX18 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX17 Ivone Leong gene: COX17 was added
gene: COX17 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX17 was set to Unknown
Phenotypes for gene: COX17 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX16 Ivone Leong gene: COX16 was added
gene: COX16 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX16 was set to Unknown
Phenotypes for gene: COX16 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX15 Ivone Leong gene: COX15 was added
gene: COX15 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Mitochondrial disorder with complex IV deficiency v0.2 COX14 Ivone Leong gene: COX14 was added
gene: COX14 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX11 Ivone Leong gene: COX11 was added
gene: COX11 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX11 was set to Unknown
Phenotypes for gene: COX11 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX10 Ivone Leong gene: COX10 was added
gene: COX10 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COA7 Ivone Leong gene: COA7 was added
gene: COA7 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COA6 Ivone Leong gene: COA6 was added
gene: COA6 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Mitochondrial disorder with complex IV deficiency v0.2 COA5 Ivone Leong gene: COA5 was added
gene: COA5 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Mitochondrial disorder with complex IV deficiency v0.2 COA4 Ivone Leong gene: COA4 was added
gene: COA4 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA4 was set to Unknown
Phenotypes for gene: COA4 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COA3 Ivone Leong gene: COA3 was added
gene: COA3 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA3 were set to 25604084
Phenotypes for gene: COA3 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COA1 Ivone Leong gene: COA1 was added
gene: COA1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA1 was set to Unknown
Phenotypes for gene: COA1 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 CEP89 Ivone Leong gene: CEP89 was added
gene: CEP89 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP89 were set to 23575228
Phenotypes for gene: CEP89 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 APOPT1 Ivone Leong gene: APOPT1 was added
gene: APOPT1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex III deficiency v0.3 UQCRQ Ivone Leong reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 UQCRH Ivone Leong reviewed gene: UQCRH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.3 UQCRFS1 Ivone Leong reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.3 UQCRC2 Ivone Leong reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 UQCRC1 Ivone Leong reviewed gene: UQCRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.3 UQCRB Ivone Leong reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 UQCR11 Ivone Leong reviewed gene: UQCR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.3 UQCR10 Ivone Leong reviewed gene: UQCR10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.3 UQCC3 Ivone Leong reviewed gene: UQCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 UQCC2 Ivone Leong reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 UQCC1 Ivone Leong reviewed gene: UQCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.3 TTC19 Ivone Leong reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 LYRM7 Ivone Leong reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29353736; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, 615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 CYC1 Ivone Leong reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.3 BCS1L Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.2 UQCRQ Ivone Leong gene: UQCRQ was added
gene: UQCRQ was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159
Mitochondrial disorder with complex III deficiency v0.2 UQCRH Ivone Leong gene: UQCRH was added
gene: UQCRH was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCRH was set to Unknown
Phenotypes for gene: UQCRH were set to No OMIM phenotype
Mitochondrial disorder with complex III deficiency v0.2 UQCRFS1 Ivone Leong gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCRFS1 was set to Unknown
Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype
Mitochondrial disorder with complex III deficiency v0.2 UQCRC2 Ivone Leong gene: UQCRC2 was added
gene: UQCRC2 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160
Mitochondrial disorder with complex III deficiency v0.2 UQCRC1 Ivone Leong gene: UQCRC1 was added
gene: UQCRC1 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCRC1 was set to Unknown
Phenotypes for gene: UQCRC1 were set to No OMIM phenotype
Mitochondrial disorder with complex III deficiency v0.2 UQCRB Ivone Leong gene: UQCRB was added
gene: UQCRB was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Mitochondrial disorder with complex III deficiency v0.2 UQCR11 Ivone Leong gene: UQCR11 was added
gene: UQCR11 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCR11 was set to Unknown
Phenotypes for gene: UQCR11 were set to No OMIM phenotype
Mitochondrial disorder with complex III deficiency v0.2 UQCR10 Ivone Leong gene: UQCR10 was added
gene: UQCR10 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCR10 was set to Unknown
Phenotypes for gene: UQCR10 were set to No OMIM phenotype
Mitochondrial disorder with complex III deficiency v0.2 UQCC3 Ivone Leong gene: UQCC3 was added
gene: UQCC3 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type 9, 616111
Mitochondrial disorder with complex III deficiency v0.2 UQCC2 Ivone Leong gene: UQCC2 was added
gene: UQCC2 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Mitochondrial disorder with complex III deficiency v0.2 UQCC1 Ivone Leong gene: UQCC1 was added
gene: UQCC1 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UQCC1 was set to Unknown
Phenotypes for gene: UQCC1 were set to No OMIM phenotype
Mitochondrial disorder with complex III deficiency v0.2 TTC19 Ivone Leong gene: TTC19 was added
gene: TTC19 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Mitochondrial disorder with complex III deficiency v0.2 LYRM7 Ivone Leong gene: LYRM7 was added
gene: LYRM7 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Mitochondrial disorder with complex III deficiency v0.2 CYC1 Ivone Leong gene: CYC1 was added
gene: CYC1 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Mitochondrial disorder with complex III deficiency v0.2 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000
Mitochondrial disorder with complex II deficiency v0.3 SDHD Ivone Leong reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v0.3 SDHC Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 SDHB Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v0.3 SDHAF4 Ivone Leong reviewed gene: SDHAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 SDHAF3 Ivone Leong reviewed gene: SDHAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 SDHAF2 Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 SDHAF1 Ivone Leong reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v0.3 SDHA Ivone Leong reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v0.2 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Mitochondrial disorder with complex II deficiency v0.2 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHC was set to Unknown
Phenotypes for gene: SDHC were set to No OMIM phenotype
Mitochondrial disorder with complex II deficiency v0.2 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHB were set to 22972948
Phenotypes for gene: SDHB were set to No OMIM phenotype
Mitochondrial disorder with complex II deficiency v0.2 SDHAF4 Ivone Leong gene: SDHAF4 was added
gene: SDHAF4 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF4 was set to Unknown
Phenotypes for gene: SDHAF4 were set to No OMIM phenotype
Mitochondrial disorder with complex II deficiency v0.2 SDHAF3 Ivone Leong gene: SDHAF3 was added
gene: SDHAF3 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF3 was set to Unknown
Phenotypes for gene: SDHAF3 were set to No OMIM phenotype
Mitochondrial disorder with complex II deficiency v0.2 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF2 was set to Unknown
Phenotypes for gene: SDHAF2 were set to No OMIM phenotype
Mitochondrial disorder with complex II deficiency v0.2 SDHAF1 Ivone Leong gene: SDHAF1 was added
gene: SDHAF1 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Mitochondrial disorder with complex II deficiency v0.2 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000
Mitochondrial disorder with complex I deficiency v0.3 TMEM126B Ivone Leong reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 TIMMDC1 Ivone Leong reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NUBPL Ivone Leong reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFV3 Ivone Leong reviewed gene: NDUFV3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFV2 Ivone Leong reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, 618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFV1 Ivone Leong reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4, 618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFS8 Ivone Leong reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2, 618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFS7 Ivone Leong reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, 618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFS6 Ivone Leong reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFS5 Ivone Leong reviewed gene: NDUFS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFS4 Ivone Leong reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFS3 Ivone Leong reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFS2 Ivone Leong reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFS1 Ivone Leong reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFC2 Ivone Leong reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFC1 Ivone Leong reviewed gene: NDUFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFB9 Ivone Leong reviewed gene: NDUFB9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 24, 618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFB8 Ivone Leong reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFB7 Ivone Leong reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFB6 Ivone Leong reviewed gene: NDUFB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFB5 Ivone Leong reviewed gene: NDUFB5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFB4 Ivone Leong reviewed gene: NDUFB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFB3 Ivone Leong reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, 618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFB2 Ivone Leong reviewed gene: NDUFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFB11 Ivone Leong reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorder with complex I deficiency v0.3 NDUFB10 Ivone Leong reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFB1 Ivone Leong reviewed gene: NDUFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF8 Ivone Leong reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF7 Ivone Leong reviewed gene: NDUFAF7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF6 Ivone Leong reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, 612392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF5 Ivone Leong reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, 616238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF4 Ivone Leong reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, 618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF3 Ivone Leong reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, 618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF2 Ivone Leong reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, 618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFAF1 Ivone Leong reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, 618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFAB1 Ivone Leong reviewed gene: NDUFAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFA9 Ivone Leong reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA8 Ivone Leong reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFA7 Ivone Leong reviewed gene: NDUFA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFA6 Ivone Leong reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA5 Ivone Leong reviewed gene: NDUFA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFA3 Ivone Leong reviewed gene: NDUFA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 NDUFA2 Ivone Leong reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA13 Ivone Leong reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA12 Ivone Leong reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA11 Ivone Leong reviewed gene: NDUFA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, 618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA10 Ivone Leong reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA1 Ivone Leong reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorder with complex I deficiency v0.3 FOXRED1 Ivone Leong reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 ECSIT Ivone Leong reviewed gene: ECSIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.3 ACAD9 Ivone Leong reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.2 TMEM126B Ivone Leong gene: TMEM126B was added
gene: TMEM126B was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Mitochondrial disorder with complex I deficiency v0.2 TIMMDC1 Ivone Leong gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251
Mitochondrial disorder with complex I deficiency v0.2 NUBPL Ivone Leong gene: NUBPL was added
gene: NUBPL was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242
Mitochondrial disorder with complex I deficiency v0.2 NDUFV3 Ivone Leong gene: NDUFV3 was added
gene: NDUFV3 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV3 was set to Unknown
Phenotypes for gene: NDUFV3 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFV2 Ivone Leong gene: NDUFV2 was added
gene: NDUFV2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229
Mitochondrial disorder with complex I deficiency v0.2 NDUFV1 Ivone Leong gene: NDUFV1 was added
gene: NDUFV1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225
Mitochondrial disorder with complex I deficiency v0.2 NDUFS8 Ivone Leong gene: NDUFS8 was added
gene: NDUFS8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222
Mitochondrial disorder with complex I deficiency v0.2 NDUFS7 Ivone Leong gene: NDUFS7 was added
gene: NDUFS7 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224
Mitochondrial disorder with complex I deficiency v0.2 NDUFS6 Ivone Leong gene: NDUFS6 was added
gene: NDUFS6 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232
Mitochondrial disorder with complex I deficiency v0.2 NDUFS5 Ivone Leong gene: NDUFS5 was added
gene: NDUFS5 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS5 was set to Unknown
Phenotypes for gene: NDUFS5 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFS4 Ivone Leong gene: NDUFS4 was added
gene: NDUFS4 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010
Mitochondrial disorder with complex I deficiency v0.2 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230
Mitochondrial disorder with complex I deficiency v0.2 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228
Mitochondrial disorder with complex I deficiency v0.2 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226
Mitochondrial disorder with complex I deficiency v0.2 NDUFC2 Ivone Leong gene: NDUFC2 was added
gene: NDUFC2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFC2 was set to Unknown
Phenotypes for gene: NDUFC2 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFC1 Ivone Leong gene: NDUFC1 was added
gene: NDUFC1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFC1 was set to Unknown
Phenotypes for gene: NDUFC1 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB9 Ivone Leong gene: NDUFB9 was added
gene: NDUFB9 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency, nuclear type 24, 618245
Mitochondrial disorder with complex I deficiency v0.2 NDUFB8 Ivone Leong gene: NDUFB8 was added
gene: NDUFB8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Mitochondrial disorder with complex I deficiency v0.2 NDUFB7 Ivone Leong gene: NDUFB7 was added
gene: NDUFB7 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB7 was set to Unknown
Phenotypes for gene: NDUFB7 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB6 Ivone Leong gene: NDUFB6 was added
gene: NDUFB6 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB6 was set to Unknown
Phenotypes for gene: NDUFB6 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB5 Ivone Leong gene: NDUFB5 was added
gene: NDUFB5 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB5 was set to Unknown
Phenotypes for gene: NDUFB5 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB4 Ivone Leong gene: NDUFB4 was added
gene: NDUFB4 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB4 was set to Unknown
Phenotypes for gene: NDUFB4 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB3 Ivone Leong gene: NDUFB3 was added
gene: NDUFB3 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246
Mitochondrial disorder with complex I deficiency v0.2 NDUFB2 Ivone Leong gene: NDUFB2 was added
gene: NDUFB2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB2 was set to Unknown
Phenotypes for gene: NDUFB2 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952
Mitochondrial disorder with complex I deficiency v0.2 NDUFB10 Ivone Leong gene: NDUFB10 was added
gene: NDUFB10 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730
Phenotypes for gene: NDUFB10 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB1 Ivone Leong gene: NDUFB1 was added
gene: NDUFB1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB1 was set to Unknown
Phenotypes for gene: NDUFB1 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF8 Ivone Leong gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF7 Ivone Leong gene: NDUFAF7 was added
gene: NDUFAF7 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF7 was set to Unknown
Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF6 Ivone Leong gene: NDUFAF6 was added
gene: NDUFAF6 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF5 Ivone Leong gene: NDUFAF5 was added
gene: NDUFAF5 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF4 Ivone Leong gene: NDUFAF4 was added
gene: NDUFAF4 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF3 Ivone Leong gene: NDUFAF3 was added
gene: NDUFAF3 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF2 Ivone Leong gene: NDUFAF2 was added
gene: NDUFAF2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233
Mitochondrial disorder with complex I deficiency v0.2 NDUFAF1 Ivone Leong gene: NDUFAF1 was added
gene: NDUFAF1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234
Mitochondrial disorder with complex I deficiency v0.2 NDUFAB1 Ivone Leong gene: NDUFAB1 was added
gene: NDUFAB1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAB1 was set to Unknown
Phenotypes for gene: NDUFAB1 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFA9 Ivone Leong gene: NDUFA9 was added
gene: NDUFA9 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Mitochondrial disorder with complex I deficiency v0.2 NDUFA8 Ivone Leong gene: NDUFA8 was added
gene: NDUFA8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA8 was set to Unknown
Phenotypes for gene: NDUFA8 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFA7 Ivone Leong gene: NDUFA7 was added
gene: NDUFA7 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA7 was set to Unknown
Phenotypes for gene: NDUFA7 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFA6 Ivone Leong gene: NDUFA6 was added
gene: NDUFA6 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Mitochondrial disorder with complex I deficiency v0.2 NDUFA5 Ivone Leong gene: NDUFA5 was added
gene: NDUFA5 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA5 was set to Unknown
Phenotypes for gene: NDUFA5 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFA3 Ivone Leong gene: NDUFA3 was added
gene: NDUFA3 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA3 was set to Unknown
Phenotypes for gene: NDUFA3 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFA2 Ivone Leong gene: NDUFA2 was added
gene: NDUFA2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235
Mitochondrial disorder with complex I deficiency v0.2 NDUFA13 Ivone Leong gene: NDUFA13 was added
gene: NDUFA13 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA13 were set to ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorder with complex I deficiency v0.2 NDUFA12 Ivone Leong gene: NDUFA12 was added
gene: NDUFA12 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Mitochondrial disorder with complex I deficiency v0.2 NDUFA11 Ivone Leong gene: NDUFA11 was added
gene: NDUFA11 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Mitochondrial disorder with complex I deficiency v0.2 NDUFA10 Ivone Leong gene: NDUFA10 was added
gene: NDUFA10 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Mitochondrial disorder with complex I deficiency v0.2 NDUFA1 Ivone Leong gene: NDUFA1 was added
gene: NDUFA1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020
Mitochondrial disorder with complex I deficiency v0.2 FOXRED1 Ivone Leong gene: FOXRED1 was added
gene: FOXRED1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Mitochondrial disorder with complex I deficiency v0.2 ECSIT Ivone Leong gene: ECSIT was added
gene: ECSIT was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ECSIT was set to Unknown
Phenotypes for gene: ECSIT were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 ACAD9 Ivone Leong gene: ACAD9 was added
gene: ACAD9 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Mitochondrial DNA maintenance disorder v0.3 TFAM Ivone Leong reviewed gene: TFAM: Rating: RED; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 SSBP1 Ivone Leong reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial DNA maintenance disorder v0.3 SAMHD1 Ivone Leong reviewed gene: SAMHD1: Rating: RED; Mode of pathogenicity: ; Publications: 21102625, 26342080; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 ISCA2 Ivone Leong reviewed gene: ISCA2: Rating: RED; Mode of pathogenicity: ; Publications: 29297947, 25539947; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, 616370 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 AGK Ivone Leong reviewed gene: AGK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 TYMP Ivone Leong reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 TWNK Ivone Leong reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 TOP3A Ivone Leong reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290614; Phenotypes: ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 TK2 Ivone Leong reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937588; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 SUCLG1 Ivone Leong reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 SUCLA2 Ivone Leong reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 SPG7 Ivone Leong reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24727571; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 SLC25A4 Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 RRM2B Ivone Leong reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 RNASEH1 Ivone Leong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 POLG2 Ivone Leong reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157269; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131, Mitochondrial DNA depletion syndrome, NA; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 POLG Ivone Leong reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 OPA1 Ivone Leong reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250 ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 MPV17 Ivone Leong reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 MGME1 Ivone Leong reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 MFN2 Ivone Leong reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22189565, 22556188; Phenotypes: Optic atrophy plus, Mitochondrial DNA depletion syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 FBXL4 Ivone Leong reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 DNM2 Ivone Leong reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Centronuclear myopathy 1, 160150, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial DNA maintenance disorder v0.3 DNA2 Ivone Leong reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23352259; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial DNA maintenance disorder v0.3 DGUOK Ivone Leong reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 AFG3L2 Ivone Leong reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25420100; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.3 ABAT Ivone Leong reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 25738457; Phenotypes: Mitochondrial DNA depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial DNA maintenance disorder v0.2 TFAM Ivone Leong gene: TFAM was added
gene: TFAM was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789
Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Mitochondrial DNA maintenance disorder v0.2 SSBP1 Ivone Leong gene: SSBP1 was added
gene: SSBP1 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to Unknown
Phenotypes for gene: SSBP1 were set to No OMIM phenotype
Mitochondrial DNA maintenance disorder v0.2 SAMHD1 Ivone Leong gene: SAMHD1 was added
gene: SAMHD1 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 21102625, 26342080
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952
Mitochondrial DNA maintenance disorder v0.2 ISCA2 Ivone Leong gene: ISCA2 was added
gene: ISCA2 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to 29297947, 25539947
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370
Mitochondrial DNA maintenance disorder v0.2 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
Mitochondrial DNA maintenance disorder v0.2 TYMP Ivone Leong gene: TYMP was added
gene: TYMP was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Mitochondrial DNA maintenance disorder v0.2 TWNK Ivone Leong gene: TWNK was added
gene: TWNK was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
Mitochondrial DNA maintenance disorder v0.2 TOP3A Ivone Leong gene: TOP3A was added
gene: TOP3A was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 29290614
Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Mitochondrial DNA maintenance disorder v0.2 TK2 Ivone Leong gene: TK2 was added
gene: TK2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 21937588
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Mitochondrial DNA maintenance disorder v0.2 SUCLG1 Ivone Leong gene: SUCLG1 was added
gene: SUCLG1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Mitochondrial DNA maintenance disorder v0.2 SUCLA2 Ivone Leong gene: SUCLA2 was added
gene: SUCLA2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Mitochondrial DNA maintenance disorder v0.2 SPG7 Ivone Leong gene: SPG7 was added
gene: SPG7 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 24727571
Phenotypes for gene: SPG7 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions
Mitochondrial DNA maintenance disorder v0.2 SLC25A4 Ivone Leong gene: SLC25A4 was added
gene: SLC25A4 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27693233
Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
Mitochondrial DNA maintenance disorder v0.2 RRM2B Ivone Leong gene: RRM2B was added
gene: RRM2B was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Mitochondrial DNA maintenance disorder v0.2 RNASEH1 Ivone Leong gene: RNASEH1 was added
gene: RNASEH1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Mitochondrial DNA maintenance disorder v0.2 POLG2 Ivone Leong gene: POLG2 was added
gene: POLG2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: POLG2 were set to 30157269
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Mitochondrial DNA maintenance disorder v0.2 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450
Mitochondrial DNA maintenance disorder v0.2 OPA1 Ivone Leong gene: OPA1 was added
gene: OPA1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250
Mitochondrial DNA maintenance disorder v0.2 MPV17 Ivone Leong gene: MPV17 was added
gene: MPV17 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Mitochondrial DNA maintenance disorder v0.2 MGME1 Ivone Leong gene: MGME1 was added
gene: MGME1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGME1 were set to 23313956
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084
Mitochondrial DNA maintenance disorder v0.2 MFN2 Ivone Leong gene: MFN2 was added
gene: MFN2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 22556188; 22189565
Phenotypes for gene: MFN2 were set to Mitochondrial DNA depletion syndrome; Optic atrophy plus
Mitochondrial DNA maintenance disorder v0.2 FBXL4 Ivone Leong gene: FBXL4 was added
gene: FBXL4 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 25868664
Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Mitochondrial DNA maintenance disorder v0.2 DNM2 Ivone Leong gene: DNM2 was added
gene: DNM2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150
Mitochondrial DNA maintenance disorder v0.2 DNA2 Ivone Leong gene: DNA2 was added
gene: DNA2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNA2 were set to 23352259
Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Mitochondrial DNA maintenance disorder v0.2 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Mitochondrial DNA maintenance disorder v0.2 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 25420100
Phenotypes for gene: AFG3L2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions
Mitochondrial DNA maintenance disorder v0.2 ABAT Ivone Leong gene: ABAT was added
gene: ABAT was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 25738457
Phenotypes for gene: ABAT were set to Mitochondrial DNA depletion syndrome
Mitochondrial liver disease, including transient infantile liver failure v0.3 TFAM Ivone Leong reviewed gene: TFAM: Rating: RED; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 SCO1 Ivone Leong reviewed gene: SCO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 RRM2B Ivone Leong reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: ; Publications: 27483465; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 POLG2 Ivone Leong reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: ; Publications: 30157269; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131, Mitochondrial DNA depletion syndrome, NA; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 ACAD9 Ivone Leong reviewed gene: ACAD9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 TWNK Ivone Leong reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30391088; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 TRMU Ivone Leong reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIVER FAILURE, INFANTILE, TRANSIENT, 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 POLG Ivone Leong reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 MPV17 Ivone Leong reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 DGUOK Ivone Leong reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.3 BCS1L Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial liver disease, including transient infantile liver failure v0.2 TFAM Ivone Leong gene: TFAM was added
gene: TFAM was added to Mitochondrial liver disease. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789
Phenotypes for gene: TFAM were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE), 617156
Mitochondrial liver disease, including transient infantile liver failure v0.2 SCO1 Ivone Leong gene: SCO1 was added
gene: SCO1 was added to Mitochondrial liver disease. Sources: NHS GMS
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial liver disease, including transient infantile liver failure v0.2 RRM2B Ivone Leong gene: RRM2B was added
gene: RRM2B was added to Mitochondrial liver disease. Sources: NHS GMS
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 27483465
Phenotypes for gene: RRM2B were set to 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Mitochondrial liver disease, including transient infantile liver failure v0.2 POLG2 Ivone Leong gene: POLG2 was added
gene: POLG2 was added to Mitochondrial liver disease. Sources: NHS GMS
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: POLG2 were set to 30157269
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Mitochondrial liver disease, including transient infantile liver failure v0.2 ACAD9 Ivone Leong gene: ACAD9 was added
gene: ACAD9 was added to Mitochondrial liver disease. Sources: NHS GMS
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Mitochondrial liver disease, including transient infantile liver failure v0.2 TWNK Ivone Leong gene: TWNK was added
gene: TWNK was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TWNK were set to 30391088
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
Mitochondrial liver disease, including transient infantile liver failure v0.2 TRMU Ivone Leong gene: TRMU was added
gene: TRMU was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Mitochondrial liver disease, including transient infantile liver failure v0.2 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450
Mitochondrial liver disease, including transient infantile liver failure v0.2 MPV17 Ivone Leong gene: MPV17 was added
gene: MPV17 was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Mitochondrial liver disease, including transient infantile liver failure v0.2 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Mitochondrial liver disease, including transient infantile liver failure v0.2 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000
Hypotonic infant v3.79 Ellen McDonagh Panel status changed from internal to public
Pancreatitis v1.4 CPA1 Miranda Durkie reviewed gene: CPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23955596, PMID: 28258133; Phenotypes: Chronic pancreatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDPR Ivone Leong reviewed gene: PDPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDP2 Ivone Leong reviewed gene: PDP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.3 TPK1 Ivone Leong reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC25A26 Ivone Leong reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC25A19 Ivone Leong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710, MICROCEPHALY, AMISH TYPE, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC19A3 Ivone Leong reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDP1 Ivone Leong reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDHX Ivone Leong reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDHB Ivone Leong reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15138885, 18164639, 19924563; Phenotypes: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDHA1 Ivone Leong reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pyruvate dehydrogenase (PDH) deficiency v0.3 NFU1 Ivone Leong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LONP1 Ivone Leong reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30304514; Phenotypes: CODAS syndrome, 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LIPT2 Ivone Leong reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 28803783; Phenotypes: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LIPT1 Ivone Leong reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIPOYLTRANSFERASE 1 DEFICIENCY, 616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LIAS Ivone Leong reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 ISCA2 Ivone Leong reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 ISCA1 Ivone Leong reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28356563, 29767723; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 IBA57 Ivone Leong reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 HIBCH Ivone Leong reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 GLRX5 Ivone Leong reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 FBXL4 Ivone Leong reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 ECHS1 Ivone Leong reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 DLD Ivone Leong reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 DLAT Ivone Leong reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 BOLA3 Ivone Leong reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic renal disease v1.7 Ellen McDonagh Panel status changed from internal to public
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDPR Ivone Leong gene: PDPR was added
gene: PDPR was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS
Mode of inheritance for gene: PDPR was set to Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDP2 Ivone Leong gene: PDP2 was added
gene: PDP2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS
Mode of inheritance for gene: PDP2 was set to Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.2 TPK1 Ivone Leong gene: TPK1 was added
gene: TPK1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC25A26 Ivone Leong gene: SLC25A26 was added
gene: SLC25A26 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC25A19 Ivone Leong gene: SLC25A19 was added
gene: SLC25A19 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC19A3 Ivone Leong gene: SLC19A3 was added
gene: SLC19A3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC19A2 Ivone Leong gene: SLC19A2 was added
gene: SLC19A2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDP1 Ivone Leong gene: PDP1 was added
gene: PDP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDHX Ivone Leong gene: PDHX was added
gene: PDHX was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDHB Ivone Leong gene: PDHB was added
gene: PDHB was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 18164639; 15138885; 19924563
Phenotypes for gene: PDHB were set to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDHA1 Ivone Leong gene: PDHA1 was added
gene: PDHA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
Pyruvate dehydrogenase (PDH) deficiency v0.2 NFU1 Ivone Leong gene: NFU1 was added
gene: NFU1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711
Pyruvate dehydrogenase (PDH) deficiency v0.2 LONP1 Ivone Leong gene: LONP1 was added
gene: LONP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to 30304514
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373
Pyruvate dehydrogenase (PDH) deficiency v0.2 LIPT2 Ivone Leong gene: LIPT2 was added
gene: LIPT2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203; 28803783
Phenotypes for gene: LIPT2 were set to ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Pyruvate dehydrogenase (PDH) deficiency v0.2 LIPT1 Ivone Leong gene: LIPT1 was added
gene: LIPT1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
Pyruvate dehydrogenase (PDH) deficiency v0.2 LIAS Ivone Leong gene: LIAS was added
gene: LIAS was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Pyruvate dehydrogenase (PDH) deficiency v0.2 ISCA2 Ivone Leong gene: ISCA2 was added
gene: ISCA2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
Pyruvate dehydrogenase (PDH) deficiency v0.2 ISCA1 Ivone Leong gene: ISCA1 was added
gene: ISCA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 29767723; PMID: 28356563
Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Pyruvate dehydrogenase (PDH) deficiency v0.2 IBA57 Ivone Leong gene: IBA57 was added
gene: IBA57 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Pyruvate dehydrogenase (PDH) deficiency v0.2 HIBCH Ivone Leong gene: HIBCH was added
gene: HIBCH was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Pyruvate dehydrogenase (PDH) deficiency v0.2 GLRX5 Ivone Leong gene: GLRX5 was added
gene: GLRX5 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRX5 were set to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Pyruvate dehydrogenase (PDH) deficiency v0.2 FBXL4 Ivone Leong gene: FBXL4 was added
gene: FBXL4 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 25868664
Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Pyruvate dehydrogenase (PDH) deficiency v0.2 ECHS1 Ivone Leong gene: ECHS1 was added
gene: ECHS1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277
Pyruvate dehydrogenase (PDH) deficiency v0.2 DLD Ivone Leong gene: DLD was added
gene: DLD was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
Pyruvate dehydrogenase (PDH) deficiency v0.2 DLAT Ivone Leong gene: DLAT was added
gene: DLAT was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Pyruvate dehydrogenase (PDH) deficiency v0.2 BOLA3 Ivone Leong gene: BOLA3 was added
gene: BOLA3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299
Inherited pancreatic cancer v0.28 STK11 Ivone Leong Classified gene: STK11 as Red List (low evidence)
Inherited pancreatic cancer v0.28 STK11 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated red.
Inherited pancreatic cancer v0.28 STK11 Ivone Leong Gene: stk11 has been classified as Red List (Low Evidence).
Inherited pancreatic cancer v0.27 CDK4 Ivone Leong Classified gene: CDK4 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.27 CDK4 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited pancreatic cancer v0.27 CDK4 Ivone Leong Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 POLE Ivone Leong Classified gene: POLE as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 POLE Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated green.
Inherited polyposis and early onset colorectal cancer - germline testing v0.47 POLE Ivone Leong Gene: pole has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.46 POLD1 Ivone Leong Classified gene: POLD1 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.46 POLD1 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated green.
Inherited polyposis and early onset colorectal cancer - germline testing v0.46 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.45 NTHL1 Ivone Leong Classified gene: NTHL1 as Amber List (moderate evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.45 NTHL1 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited polyposis and early onset colorectal cancer - germline testing v0.45 NTHL1 Ivone Leong Gene: nthl1 has been classified as Amber List (Moderate Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.44 GREM1 Ivone Leong Classified gene: GREM1 as Amber List (moderate evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.44 GREM1 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited polyposis and early onset colorectal cancer - germline testing v0.44 GREM1 Ivone Leong Gene: grem1 has been classified as Amber List (Moderate Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.43 RNF43 Ivone Leong Classified gene: RNF43 as Amber List (moderate evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.43 RNF43 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited polyposis and early onset colorectal cancer - germline testing v0.43 RNF43 Ivone Leong Gene: rnf43 has been classified as Amber List (Moderate Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.42 MSH3 Ivone Leong Classified gene: MSH3 as Amber List (moderate evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.42 MSH3 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber as cases in this gene is rare.
Inherited polyposis and early onset colorectal cancer - germline testing v0.42 MSH3 Ivone Leong Gene: msh3 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.37 PMS2 Ivone Leong Classified gene: PMS2 as No list
Inherited renal cancer v0.37 PMS2 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.37 PMS2 Ivone Leong Gene: pms2 has been removed from the panel.
Inherited renal cancer v0.36 MSH6 Ivone Leong Classified gene: MSH6 as No list
Inherited renal cancer v0.36 MSH6 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.36 MSH6 Ivone Leong Gene: msh6 has been removed from the panel.
Inherited renal cancer v0.35 MSH2 Ivone Leong Classified gene: MSH2 as No list
Inherited renal cancer v0.35 MSH2 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.35 MSH2 Ivone Leong Gene: msh2 has been removed from the panel.
Inherited renal cancer v0.34 MLH1 Ivone Leong Classified gene: MLH1 as No list
Inherited renal cancer v0.34 MLH1 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.34 MLH1 Ivone Leong Gene: mlh1 has been removed from the panel.
Inherited renal cancer v0.33 TMEM127 Ivone Leong Classified gene: TMEM127 as Amber List (moderate evidence)
Inherited renal cancer v0.33 TMEM127 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.33 TMEM127 Ivone Leong Gene: tmem127 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.32 SDHD Ivone Leong Classified gene: SDHD as Amber List (moderate evidence)
Inherited renal cancer v0.32 SDHD Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.32 SDHD Ivone Leong Gene: sdhd has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.31 SDHC Ivone Leong Classified gene: SDHC as Amber List (moderate evidence)
Inherited renal cancer v0.31 SDHC Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.31 SDHC Ivone Leong Gene: sdhc has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.30 CDKN2B Ivone Leong Classified gene: CDKN2B as Amber List (moderate evidence)
Inherited renal cancer v0.30 CDKN2B Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.30 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.22 TERT Ivone Leong Publications for gene: TERT were set to
Familial melanoma v0.21 TERT Ivone Leong Classified gene: TERT as Amber List (moderate evidence)
Familial melanoma v0.21 TERT Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Familial melanoma v0.21 TERT Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.20 POT1 Ivone Leong Classified gene: POT1 as Amber List (moderate evidence)
Familial melanoma v0.20 POT1 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Familial melanoma v0.20 POT1 Ivone Leong Gene: pot1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.621 PUS3 Konstantinos Varvagiannis edited their review of gene: PUS3: Added comment: PMID: 30697592 reports 2 additional individuals with intellectual disability, leukoencephalopathy and adult onset nephropathy. These individuals harbored 2 missense variants in the compound heterozygous state (c.497G>A - p.Arg166Gln and c.1097T>C - p.Leu366Pro - Ref. sequence not mentioned).

As a result amber/green rating could be considered.; Changed publications: 27055666, 30308082, 30697592
Intellectual disability v2.621 PUS3 Konstantinos Varvagiannis Deleted their comment
Intellectual disability v2.621 PUS3 Konstantinos Varvagiannis edited their review of gene: PUS3: Added comment: PMID: 30697592 reports 2 additional individuals with intellectual disability, leukoencephalopathy and adult onset nephropathy. These individuals harbored 2 missense variants in the compound heterozygous state (c.497G>A - p.Arg166Gln and c.1097T>C - p.Leu366Pro - Ref. sequence not mentioned).

As a result amber/green rating could be considered.; Changed publications: 30697592
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger commented on gene: TSPEAR: PMID:27736875 (Peled et al., 2016) identified 2 frameshift and 2 missense variants in TSPEAR segregating with ectodermal dysplasias (MIM:618180) in 3 unrelated families (5 patients): two consanguineous families of Arab Moslem origin and one Jewish Ashkenazi family. The novel form of ectodermal dysplasia was characterized by oligodontia, alopecia and facial dysmorphism.
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger Classified gene: TSPEAR as Green List (high evidence)
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger Added comment: Comment on list classification: Set rating to Green: Gene added and rated Green by Tom Cullup (GOSH) on the 'Ectodermal dysplasia' panel. Sufficient cases (3 unrelated families from 2 ethnicities) in PMID:27736875 for diagnostic-grade rating.
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger Gene: tspear has been classified as Green List (High Evidence).
Ectodermal dysplasia without a known gene mutation v1.16 TSPEAR Rebecca Foulger gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal dysplasia without a known gene mutation. Sources: Expert list,Literature
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 27736875
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Added comment: TSPEAR was added to the 'Ectodermal dysplasia' panel and rated Green byTom Cullup (GOSH). TSPEAR is also therefore appropriate for this 'Ectodermal dysplasia without a known gene mutation' panel.
Sources: Expert list, Literature
Ectodermal dysplasia v0.10 TSPEAR Rebecca Foulger Classified gene: TSPEAR as Green List (high evidence)
Ectodermal dysplasia v0.10 TSPEAR Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. Gene added and rated Green by Tom Cullup (GOSH). Sufficient cases (3 unrelated families from 2 ethnicities) in PMID:27736875 for diagnostic-grade rating.
Ectodermal dysplasia v0.10 TSPEAR Rebecca Foulger Gene: tspear has been classified as Green List (High Evidence).
Ectodermal dysplasia v0.9 TSPEAR Rebecca Foulger commented on gene: TSPEAR
Ectodermal dysplasia v0.9 TSPEAR Rebecca Foulger Phenotypes for gene: TSPEAR were changed from ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Mosaic skin disorders - deep sequencing v0.4 TYRP1 Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 TYR Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 TERT Rebecca Foulger reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 SPRED1 Rebecca Foulger reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 SMO Rebecca Foulger reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 RHOA Rebecca Foulger reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 RASA1 Rebecca Foulger reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NOD2 Rebecca Foulger reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NF1 Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NDUFB11 Rebecca Foulger reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MVK Rebecca Foulger reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MAP3K3 Rebecca Foulger reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KRT1 Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KITLG Rebecca Foulger reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 JAK2 Rebecca Foulger reviewed gene: JAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 IDH2 Rebecca Foulger reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 IDH1 Rebecca Foulger reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 HCCS Rebecca Foulger reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNA14 Rebecca Foulger reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 FGFR3 Rebecca Foulger reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 FGFR1 Rebecca Foulger reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 COX7B Rebecca Foulger reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 AKT3 Rebecca Foulger reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 AKT2 Rebecca Foulger reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 AKT1 Rebecca Foulger reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 ACTB Rebecca Foulger reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.3 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism
Mosaic skin disorders - deep sequencing v0.3 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TYR were set to Oculocutaneous albinism
Mosaic skin disorders - deep sequencing v0.3 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita
Mosaic skin disorders - deep sequencing v0.3 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPRED1 were set to Legius syndrome
Mosaic skin disorders - deep sequencing v0.3 SMO Rebecca Foulger gene: SMO was added
gene: SMO was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMO were set to Curry-Jones syndrome
Mosaic skin disorders - deep sequencing v0.3 RHOA Rebecca Foulger gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.3 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome
Mosaic skin disorders - deep sequencing v0.3 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Mosaic skin disorders - deep sequencing v0.3 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; Epidermal naevi; Melanoma
Mosaic skin disorders - deep sequencing v0.3 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations
Mosaic skin disorders - deep sequencing v0.3 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRAS were set to Congenital melanocytic naevus syndrome; Melanocytic naevi; Noonan syndrome
Mosaic skin disorders - deep sequencing v0.3 NOD2 Rebecca Foulger gene: NOD2 was added
gene: NOD2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOD2 were set to Blau syndrome
Mosaic skin disorders - deep sequencing v0.3 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis type I
Mosaic skin disorders - deep sequencing v0.3 NDUFB11 Rebecca Foulger gene: NDUFB11 was added
gene: NDUFB11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NDUFB11 were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Mosaic skin disorders - deep sequencing v0.3 MVK Rebecca Foulger gene: MVK was added
gene: MVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MVK were set to Actinic porokeratosis; porokeratosis of Mibelli
Mosaic skin disorders - deep sequencing v0.3 MTOR Rebecca Foulger gene: MTOR was added
gene: MTOR was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Mosaic skin disorders - deep sequencing v0.3 MAP3K3 Rebecca Foulger gene: MAP3K3 was added
gene: MAP3K3 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP3K3 were set to Verrucous haemangiomas
Mosaic skin disorders - deep sequencing v0.3 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome
Mosaic skin disorders - deep sequencing v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita
Mosaic skin disorders - deep sequencing v0.3 KRT1 Rebecca Foulger gene: KRT1 was added
gene: KRT1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix
Mosaic skin disorders - deep sequencing v0.3 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRAS were set to Schimmelpenning syndrome; Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 KITLG Rebecca Foulger gene: KITLG was added
gene: KITLG was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KITLG were set to Progressive hyper- and hypopigmentation; Blaschko-linear hypopigmentation
Mosaic skin disorders - deep sequencing v0.3 JAK2 Rebecca Foulger gene: JAK2 was added
gene: JAK2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JAK2 were set to Myelofibrosis
Mosaic skin disorders - deep sequencing v0.3 IDH2 Rebecca Foulger gene: IDH2 was added
gene: IDH2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH2 were set to Ollier disease; Maffucci syndrome
Mosaic skin disorders - deep sequencing v0.3 IDH1 Rebecca Foulger gene: IDH1 was added
gene: IDH1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH1 were set to Ollier disease; Maffucci syndrome
Mosaic skin disorders - deep sequencing v0.3 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Woolly hair; Phakomatosis pigmentokeratotica; Costello syndrome; Schimmelpenning syndrome; Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 HCCS Rebecca Foulger gene: HCCS was added
gene: HCCS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HCCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCCS were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Mosaic skin disorders - deep sequencing v0.3 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to McCune-Albright syndrome
Mosaic skin disorders - deep sequencing v0.3 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome
Mosaic skin disorders - deep sequencing v0.3 GNA14 Rebecca Foulger gene: GNA14 was added
gene: GNA14 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA14 were set to Tufted angioma; Kaposiform endothelioma
Mosaic skin disorders - deep sequencing v0.3 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis
Mosaic skin disorders - deep sequencing v0.3 FGFR3 Rebecca Foulger gene: FGFR3 was added
gene: FGFR3 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Syringocystadenoma papilliferum; Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 FGFR1 Rebecca Foulger gene: FGFR1 was added
gene: FGFR1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 COX7B Rebecca Foulger gene: COX7B was added
gene: COX7B was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COX7B were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Mosaic skin disorders - deep sequencing v0.3 AKT3 Rebecca Foulger gene: AKT3 was added
gene: AKT3 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT3 were set to Overgrowth syndrome (not always mosaic in this case)
Mosaic skin disorders - deep sequencing v0.3 AKT2 Rebecca Foulger gene: AKT2 was added
gene: AKT2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT2 were set to Overgrowth syndrome (not always mosaic in this case)
Mosaic skin disorders - deep sequencing v0.3 AKT1 Rebecca Foulger gene: AKT1 was added
gene: AKT1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT1 were set to Proteus syndrome
Mosaic skin disorders - deep sequencing v0.3 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.4 XYLT2 Rebecca Foulger reviewed gene: XYLT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 TREX1 Rebecca Foulger reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 TMEM173 Rebecca Foulger reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 STAT3 Rebecca Foulger reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 SLC39A4 Rebecca Foulger reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 SH3PXD2B Rebecca Foulger reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 SAMHD1 Rebecca Foulger reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 RAG2 Rebecca Foulger reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 RAG1 Rebecca Foulger reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 OSMR Rebecca Foulger reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 NOD2 Rebecca Foulger reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 KRT1 Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 KIT Rebecca Foulger reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 IL36RN Rebecca Foulger reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 IL1RN Rebecca Foulger reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 IKBKG Rebecca Foulger reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 GJB4 Rebecca Foulger reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 GJB3 Rebecca Foulger reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 FLG Rebecca Foulger reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 EDA Rebecca Foulger reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 DOCK8 Rebecca Foulger reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 DCLRE1C Rebecca Foulger reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CYBB Rebecca Foulger reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CSTA Rebecca Foulger reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 ADA2 Rebecca Foulger reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CARD9 Rebecca Foulger reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 CARD14 Rebecca Foulger reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 AGPS Rebecca Foulger reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.3 XYLT2 Rebecca Foulger gene: XYLT2 was added
gene: XYLT2 was added to Rare genetic inflammatory skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: XYLT2 was set to
Phenotypes for gene: XYLT2 were set to Scleroderma
Rare genetic inflammatory skin disorders v0.3 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome; Chillblain lupus
Rare genetic inflammatory skin disorders v0.3 TMEM173 Rebecca Foulger gene: TMEM173 was added
gene: TMEM173 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy
Rare genetic inflammatory skin disorders v0.3 STAT3 Rebecca Foulger gene: STAT3 was added
gene: STAT3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STAT3 were set to HyperIgE syndrome
Rare genetic inflammatory skin disorders v0.3 SLC39A4 Rebecca Foulger gene: SLC39A4 was added
gene: SLC39A4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica
Rare genetic inflammatory skin disorders v0.3 SH3PXD2B Rebecca Foulger gene: SH3PXD2B was added
gene: SH3PXD2B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Borrone dermato-cardio-skeletal syndrome