PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Prepair 500+ v0.0 MOCS1 Seb Lunke gene: MOCS1 was added
gene: MOCS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)
Prepair 500+ v0.0 MMADHC Seb Lunke gene: MMADHC was added
gene: MMADHC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Prepair 500+ v0.0 MMACHC Seb Lunke gene: MMACHC was added
gene: MMACHC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Prepair 500+ v0.0 MMAB Seb Lunke gene: MMAB was added
gene: MMAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Prepair 500+ v0.0 MMAA Seb Lunke gene: MMAA was added
gene: MMAA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Prepair 500+ v0.0 MLYCD Seb Lunke gene: MLYCD was added
gene: MLYCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)
Prepair 500+ v0.0 MLC1 Seb Lunke gene: MLC1 was added
gene: MLC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Prepair 500+ v0.0 MKS1 Seb Lunke gene: MKS1 was added
gene: MKS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)
Prepair 500+ v0.0 MKKS Seb Lunke gene: MKKS was added
gene: MKKS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)
Prepair 500+ v0.0 MID1 Seb Lunke gene: MID1 was added
gene: MID1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)
Prepair 500+ v0.0 MFSD8 Seb Lunke gene: MFSD8 was added
gene: MFSD8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Prepair 500+ v0.0 MFN2 Seb Lunke gene: MFN2 was added
gene: MFN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Prepair 500+ v0.0 METTL23 Seb Lunke gene: METTL23 was added
gene: METTL23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)
Prepair 500+ v0.0 MESP2 Seb Lunke gene: MESP2 was added
gene: MESP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Prepair 500+ v0.0 MED17 Seb Lunke gene: MED17 was added
gene: MED17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Prepair 500+ v0.0 MED12 Seb Lunke gene: MED12 was added
gene: MED12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)
Prepair 500+ v0.0 MECP2 Seb Lunke gene: MECP2 was added
gene: MECP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)
Prepair 500+ v0.0 MCPH1 Seb Lunke gene: MCPH1 was added
gene: MCPH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)
Prepair 500+ v0.0 MCOLN1 Seb Lunke gene: MCOLN1 was added
gene: MCOLN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)
Prepair 500+ v0.0 MASP1 Seb Lunke gene: MASP1 was added
gene: MASP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)
Prepair 500+ v0.0 MANBA Seb Lunke gene: MANBA was added
gene: MANBA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)
Prepair 500+ v0.0 MAN2B1 Seb Lunke gene: MAN2B1 was added
gene: MAN2B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)
Prepair 500+ v0.0 LZTFL1 Seb Lunke gene: LZTFL1 was added
gene: LZTFL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Prepair 500+ v0.0 LYST Seb Lunke gene: LYST was added
gene: LYST was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)
Prepair 500+ v0.0 LRPPRC Seb Lunke gene: LRPPRC was added
gene: LRPPRC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 LRP2 Seb Lunke gene: LRP2 was added
gene: LRP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)
Prepair 500+ v0.0 LRAT Seb Lunke gene: LRAT was added
gene: LRAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)
Prepair 500+ v0.0 LPL Seb Lunke gene: LPL was added
gene: LPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)
Prepair 500+ v0.0 LMNA Seb Lunke gene: LMNA was added
gene: LMNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 18551513; 17377071; 15148145
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Prepair 500+ v0.0 LMBRD1 Seb Lunke gene: LMBRD1 was added
gene: LMBRD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Prepair 500+ v0.0 LIPA Seb Lunke gene: LIPA was added
gene: LIPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)
Prepair 500+ v0.0 LIG4 Seb Lunke gene: LIG4 was added
gene: LIG4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)
Prepair 500+ v0.0 LIFR Seb Lunke gene: LIFR was added
gene: LIFR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Prepair 500+ v0.0 LHX3 Seb Lunke gene: LHX3 was added
gene: LHX3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)
Prepair 500+ v0.0 LDLRAP1 Seb Lunke gene: LDLRAP1 was added
gene: LDLRAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Prepair 500+ v0.0 LDLR Seb Lunke gene: LDLR was added
gene: LDLR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial
Prepair 500+ v0.0 LCA5 Seb Lunke gene: LCA5 was added
gene: LCA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)
Prepair 500+ v0.0 LARS Seb Lunke gene: LARS was added
gene: LARS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Prepair 500+ v0.0 LARGE1 Seb Lunke gene: LARGE1 was added
gene: LARGE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Prepair 500+ v0.0 LAMC2 Seb Lunke gene: LAMC2 was added
gene: LAMC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 500+ v0.0 LAMB3 Seb Lunke gene: LAMB3 was added
gene: LAMB3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 500+ v0.0 LAMB2 Seb Lunke gene: LAMB2 was added
gene: LAMB2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)
Prepair 500+ v0.0 LAMB1 Seb Lunke gene: LAMB1 was added
gene: LAMB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)
Prepair 500+ v0.0 LAMA3 Seb Lunke gene: LAMA3 was added
gene: LAMA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 500+ v0.0 LAMA2 Seb Lunke gene: LAMA2 was added
gene: LAMA2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Prepair 500+ v0.0 L2HGDH Seb Lunke gene: L2HGDH was added
gene: L2HGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 L1CAM Seb Lunke gene: L1CAM was added
gene: L1CAM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)
Prepair 500+ v0.0 KRT14 Seb Lunke gene: KRT14 was added
gene: KRT14 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 500+ v0.0 KIF7 Seb Lunke gene: KIF7 was added
gene: KIF7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)
Prepair 500+ v0.0 KIF1A Seb Lunke gene: KIF1A was added
gene: KIF1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)
Prepair 500+ v0.0 KDM5C Seb Lunke gene: KDM5C was added
gene: KDM5C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Prepair 500+ v0.0 KCNQ1 Seb Lunke gene: KCNQ1 was added
gene: KCNQ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNQ1 were set to 29033053; 28438721
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)
Prepair 500+ v0.0 KCNJ11 Seb Lunke gene: KCNJ11 was added
gene: KCNJ11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Prepair 500+ v0.0 KCNJ1 Seb Lunke gene: KCNJ1 was added
gene: KCNJ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)
Prepair 500+ v0.0 KATNB1 Seb Lunke gene: KATNB1 was added
gene: KATNB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)
Prepair 500+ v0.0 JAK3 Seb Lunke gene: JAK3 was added
gene: JAK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Prepair 500+ v0.0 IVD Seb Lunke gene: IVD was added
gene: IVD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)
Prepair 500+ v0.0 ITPR1 Seb Lunke gene: ITPR1 was added
gene: ITPR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive
Prepair 500+ v0.0 ITGB4 Seb Lunke gene: ITGB4 was added
gene: ITGB4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Prepair 500+ v0.0 ITGA6 Seb Lunke gene: ITGA6 was added
gene: ITGA6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA6 were set to 27607025; 31502654; 20301336; 9158140; 34525201
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Prepair 500+ v0.0 IQSEC2 Seb Lunke gene: IQSEC2 was added
gene: IQSEC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)
Prepair 500+ v0.0 INVS Seb Lunke gene: INVS was added
gene: INVS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)
Prepair 500+ v0.0 INPP5E Seb Lunke gene: INPP5E was added
gene: INPP5E was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)
Prepair 500+ v0.0 IL7R Seb Lunke gene: IL7R was added
gene: IL7R was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Prepair 500+ v0.0 IL2RG Seb Lunke gene: IL2RG was added
gene: IL2RG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)
Prepair 500+ v0.0 IL1RAPL1 Seb Lunke gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)
Prepair 500+ v0.0 IKBKB Seb Lunke gene: IKBKB was added
gene: IKBKB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)
Prepair 500+ v0.0 IGHMBP2 Seb Lunke gene: IGHMBP2 was added
gene: IGHMBP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Prepair 500+ v0.0 IDUA Seb Lunke gene: IDUA was added
gene: IDUA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)
Prepair 500+ v0.0 IDS Seb Lunke gene: IDS was added
gene: IDS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)
Prepair 500+ v0.0 HYLS1 Seb Lunke gene: HYLS1 was added
gene: HYLS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)
Prepair 500+ v0.0 HUWE1 Seb Lunke gene: HUWE1 was added
gene: HUWE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Prepair 500+ v0.0 HSD3B2 Seb Lunke gene: HSD3B2 was added
gene: HSD3B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Prepair 500+ v0.0 HSD17B4 Seb Lunke gene: HSD17B4 was added
gene: HSD17B4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)
Prepair 500+ v0.0 HSD17B10 Seb Lunke gene: HSD17B10 was added
gene: HSD17B10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease
Prepair 500+ v0.0 HPS6 Seb Lunke gene: HPS6 was added
gene: HPS6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)
Prepair 500+ v0.0 HPS5 Seb Lunke gene: HPS5 was added
gene: HPS5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)
Prepair 500+ v0.0 HPS4 Seb Lunke gene: HPS4 was added
gene: HPS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)
Prepair 500+ v0.0 HPS3 Seb Lunke gene: HPS3 was added
gene: HPS3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)
Prepair 500+ v0.0 HPS1 Seb Lunke gene: HPS1 was added
gene: HPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)
Prepair 500+ v0.0 HPRT1 Seb Lunke gene: HPRT1 was added
gene: HPRT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)
Prepair 500+ v0.0 HPD Seb Lunke gene: HPD was added
gene: HPD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)
Prepair 500+ v0.0 HMGCS2 Seb Lunke gene: HMGCS2 was added
gene: HMGCS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 HMGCL Seb Lunke gene: HMGCL was added
gene: HMGCL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 HLCS Seb Lunke gene: HLCS was added
gene: HLCS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)
Prepair 500+ v0.0 HIBCH Seb Lunke gene: HIBCH was added
gene: HIBCH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Prepair 500+ v0.0 HGSNAT Seb Lunke gene: HGSNAT was added
gene: HGSNAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Prepair 500+ v0.0 HFE2 Seb Lunke gene: HFE2 was added
gene: HFE2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)
Prepair 500+ v0.0 HEXB Seb Lunke gene: HEXB was added
gene: HEXB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Prepair 500+ v0.0 HEXA Seb Lunke gene: HEXA was added
gene: HEXA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)
Prepair 500+ v0.0 HCFC1 Seb Lunke gene: HCFC1 was added
gene: HCFC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Prepair 500+ v0.0 HBB Seb Lunke gene: HBB was added
gene: HBB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)
Prepair 500+ v0.0 HAX1 Seb Lunke gene: HAX1 was added
gene: HAX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Prepair 500+ v0.0 HAMP Seb Lunke gene: HAMP was added
gene: HAMP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)
Prepair 500+ v0.0 HADHB Seb Lunke gene: HADHB was added
gene: HADHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)
Prepair 500+ v0.0 HADHA Seb Lunke gene: HADHA was added
gene: HADHA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)
Prepair 500+ v0.0 HADH Seb Lunke gene: HADH was added
gene: HADH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Prepair 500+ v0.0 GUSB Seb Lunke gene: GUSB was added
gene: GUSB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)
Prepair 500+ v0.0 GUCY2D Seb Lunke gene: GUCY2D was added
gene: GUCY2D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)
Prepair 500+ v0.0 GSS Seb Lunke gene: GSS was added
gene: GSS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)
Prepair 500+ v0.0 GPSM2 Seb Lunke gene: GPSM2 was added
gene: GPSM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)
Prepair 500+ v0.0 GPR143 Seb Lunke gene: GPR143 was added
gene: GPR143 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Prepair 500+ v0.0 GPC3 Seb Lunke gene: GPC3 was added
gene: GPC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Prepair 500+ v0.0 GORAB Seb Lunke gene: GORAB was added
gene: GORAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)
Prepair 500+ v0.0 GNS Seb Lunke gene: GNS was added
gene: GNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)
Prepair 500+ v0.0 GNPTG Seb Lunke gene: GNPTG was added
gene: GNPTG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)
Prepair 500+ v0.0 GNPTAB Seb Lunke gene: GNPTAB was added
gene: GNPTAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)
Prepair 500+ v0.0 GNPAT Seb Lunke gene: GNPAT was added
gene: GNPAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Prepair 500+ v0.0 GNE Seb Lunke gene: GNE was added
gene: GNE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)
Prepair 500+ v0.0 GNB5 Seb Lunke gene: GNB5 was added
gene: GNB5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Prepair 500+ v0.0 GLE1 Seb Lunke gene: GLE1 was added
gene: GLE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Prepair 500+ v0.0 GLDC Seb Lunke gene: GLDC was added
gene: GLDC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)
Prepair 500+ v0.0 GLB1 Seb Lunke gene: GLB1 was added
gene: GLB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Prepair 500+ v0.0 GLA Seb Lunke gene: GLA was added
gene: GLA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GLA were set to 29649853; 20301469
Phenotypes for gene: GLA were set to Fabry disease, MIM#301500
Prepair 500+ v0.0 GJB1 Seb Lunke gene: GJB1 was added
gene: GJB1 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Prepair 500+ v0.0 GHR Seb Lunke gene: GHR was added
gene: GHR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)
Prepair 500+ v0.0 GFM1 Seb Lunke gene: GFM1 was added
gene: GFM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 GDF5 Seb Lunke gene: GDF5 was added
gene: GDF5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)
Prepair 500+ v0.0 GDF1 Seb Lunke gene: GDF1 was added
gene: GDF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)
Prepair 500+ v0.0 GDAP1 Seb Lunke gene: GDAP1 was added
gene: GDAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Prepair 500+ v0.0 GCH1 Seb Lunke gene: GCH1 was added
gene: GCH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Prepair 500+ v0.0 GCDH Seb Lunke gene: GCDH was added
gene: GCDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)
Prepair 500+ v0.0 GBE1 Seb Lunke gene: GBE1 was added
gene: GBE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)
Prepair 500+ v0.0 GATM Seb Lunke gene: GATM was added
gene: GATM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 GAMT Seb Lunke gene: GAMT was added
gene: GAMT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)
Prepair 500+ v0.0 GALT Seb Lunke gene: GALT was added
gene: GALT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400 (3)
Prepair 500+ v0.0 GALNS Seb Lunke gene: GALNS was added
gene: GALNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)
Prepair 500+ v0.0 GALC Seb Lunke gene: GALC was added
gene: GALC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, 245200 (3)
Prepair 500+ v0.0 GAA Seb Lunke gene: GAA was added
gene: GAA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)
Prepair 500+ v0.0 G6PC3 Seb Lunke gene: G6PC3 was added
gene: G6PC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)
Prepair 500+ v0.0 G6PC Seb Lunke gene: G6PC was added
gene: G6PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 FUCA1 Seb Lunke gene: FUCA1 was added
gene: FUCA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)
Prepair 500+ v0.0 FTSJ1 Seb Lunke gene: FTSJ1 was added
gene: FTSJ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)
Prepair 500+ v0.0 FREM2 Seb Lunke gene: FREM2 was added
gene: FREM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)
Prepair 500+ v0.0 FRAS1 Seb Lunke gene: FRAS1 was added
gene: FRAS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)
Prepair 500+ v0.0 FOXRED1 Seb Lunke gene: FOXRED1 was added
gene: FOXRED1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 500+ v0.0 FOXN1 Seb Lunke gene: FOXN1 was added
gene: FOXN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
Prepair 500+ v0.0 FMR1 Seb Lunke gene: FMR1 was added
gene: FMR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FMR1 were set to Fragile X syndrome
Prepair 500+ v0.0 FLNA Seb Lunke gene: FLNA was added
gene: FLNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)
Prepair 500+ v0.0 FKTN Seb Lunke gene: FKTN was added
gene: FKTN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Prepair 500+ v0.0 FKRP Seb Lunke gene: FKRP was added
gene: FKRP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Prepair 500+ v0.0 FKBP10 Seb Lunke gene: FKBP10 was added
gene: FKBP10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)
Prepair 500+ v0.0 FHL1 Seb Lunke gene: FHL1 was added
gene: FHL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Prepair 500+ v0.0 FH Seb Lunke gene: FH was added
gene: FH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)
Prepair 500+ v0.0 FBXO7 Seb Lunke gene: FBXO7 was added
gene: FBXO7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)
Prepair 500+ v0.0 FBP1 Seb Lunke gene: FBP1 was added
gene: FBP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Prepair 500+ v0.0 FAT4 Seb Lunke gene: FAT4 was added
gene: FAT4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Prepair 500+ v0.0 FANCL Seb Lunke gene: FANCL was added
gene: FANCL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)
Prepair 500+ v0.0 FANCI Seb Lunke gene: FANCI was added
gene: FANCI was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)
Prepair 500+ v0.0 FANCG Seb Lunke gene: FANCG was added
gene: FANCG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)
Prepair 500+ v0.0 FANCF Seb Lunke gene: FANCF was added
gene: FANCF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)
Prepair 500+ v0.0 FANCE Seb Lunke gene: FANCE was added
gene: FANCE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)
Prepair 500+ v0.0 FANCD2 Seb Lunke gene: FANCD2 was added
gene: FANCD2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)
Prepair 500+ v0.0 FANCC Seb Lunke gene: FANCC was added
gene: FANCC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)
Prepair 500+ v0.0 FANCB Seb Lunke gene: FANCB was added
gene: FANCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)
Prepair 500+ v0.0 FANCA Seb Lunke gene: FANCA was added
gene: FANCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)
Prepair 500+ v0.0 FAM126A Seb Lunke gene: FAM126A was added
gene: FAM126A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)
Prepair 500+ v0.0 FAH Seb Lunke gene: FAH was added
gene: FAH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)
Prepair 500+ v0.0 F2 Seb Lunke gene: F2 was added
gene: F2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Hypoprothrombinaemia (MIM#613679); Dysprothrombinaemia, 613679
Prepair 500+ v0.0 EXOSC8 Seb Lunke gene: EXOSC8 was added
gene: EXOSC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)
Prepair 500+ v0.0 EXOSC3 Seb Lunke gene: EXOSC3 was added
gene: EXOSC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)
Prepair 500+ v0.0 EVC2 Seb Lunke gene: EVC2 was added
gene: EVC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)
Prepair 500+ v0.0 EVC Seb Lunke gene: EVC was added
gene: EVC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)
Prepair 500+ v0.0 ETHE1 Seb Lunke gene: ETHE1 was added
gene: ETHE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)
Prepair 500+ v0.0 ETFDH Seb Lunke gene: ETFDH was added
gene: ETFDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)
Prepair 500+ v0.0 ETFB Seb Lunke gene: ETFB was added
gene: ETFB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)
Prepair 500+ v0.0 ETFA Seb Lunke gene: ETFA was added
gene: ETFA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)
Prepair 500+ v0.0 ESCO2 Seb Lunke gene: ESCO2 was added
gene: ESCO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)
Prepair 500+ v0.0 ERCC8 Seb Lunke gene: ERCC8 was added
gene: ERCC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)
Prepair 500+ v0.0 ERCC6 Seb Lunke gene: ERCC6 was added
gene: ERCC6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
Prepair 500+ v0.0 ERCC5 Seb Lunke gene: ERCC5 was added
gene: ERCC5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)
Prepair 500+ v0.0 ERCC4 Seb Lunke gene: ERCC4 was added
gene: ERCC4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)
Prepair 500+ v0.0 ERCC2 Seb Lunke gene: ERCC2 was added
gene: ERCC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Prepair 500+ v0.0 EPG5 Seb Lunke gene: EPG5 was added
gene: EPG5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)
Prepair 500+ v0.0 ENPP1 Seb Lunke gene: ENPP1 was added
gene: ENPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Prepair 500+ v0.0 EMD Seb Lunke gene: EMD was added
gene: EMD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Prepair 500+ v0.0 ELP1 Seb Lunke gene: ELP1 was added
gene: ELP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)
Prepair 500+ v0.0 EIF2B5 Seb Lunke gene: EIF2B5 was added
gene: EIF2B5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B4 Seb Lunke gene: EIF2B4 was added
gene: EIF2B4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B3 Seb Lunke gene: EIF2B3 was added
gene: EIF2B3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B2 Seb Lunke gene: EIF2B2 was added
gene: EIF2B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2B1 Seb Lunke gene: EIF2B1 was added
gene: EIF2B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 500+ v0.0 EIF2AK3 Seb Lunke gene: EIF2AK3 was added
gene: EIF2AK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)
Prepair 500+ v0.0 EDA Seb Lunke gene: EDA was added
gene: EDA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Prepair 500+ v0.0 ECHS1 Seb Lunke gene: ECHS1 was added
gene: ECHS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 DYSF Seb Lunke gene: DYSF was added
gene: DYSF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Prepair 500+ v0.0 DYNC2H1 Seb Lunke gene: DYNC2H1 was added
gene: DYNC2H1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Prepair 500+ v0.0 DYM Seb Lunke gene: DYM was added
gene: DYM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)
Prepair 500+ v0.0 DOK7 Seb Lunke gene: DOK7 was added
gene: DOK7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)
Prepair 500+ v0.0 DOCK6 Seb Lunke gene: DOCK6 was added
gene: DOCK6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)
Prepair 500+ v0.0 DNMT3B Seb Lunke gene: DNMT3B was added
gene: DNMT3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Prepair 500+ v0.0 DNAI2 Seb Lunke gene: DNAI2 was added
gene: DNAI2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Prepair 500+ v0.0 DNAI1 Seb Lunke gene: DNAI1 was added
gene: DNAI1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Prepair 500+ v0.0 DNAH5 Seb Lunke gene: DNAH5 was added
gene: DNAH5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Prepair 500+ v0.0 DNAH11 Seb Lunke gene: DNAH11 was added
gene: DNAH11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Prepair 500+ v0.0 DMD Seb Lunke gene: DMD was added
gene: DMD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)
Prepair 500+ v0.0 DLL3 Seb Lunke gene: DLL3 was added
gene: DLL3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Prepair 500+ v0.0 DLG3 Seb Lunke gene: DLG3 was added
gene: DLG3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)
Prepair 500+ v0.0 DLD Seb Lunke gene: DLD was added
gene: DLD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Prepair 500+ v0.0 DKC1 Seb Lunke gene: DKC1 was added
gene: DKC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)
Prepair 500+ v0.0 DIS3L2 Seb Lunke gene: DIS3L2 was added
gene: DIS3L2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)
Prepair 500+ v0.0 DHDDS Seb Lunke gene: DHDDS was added
gene: DHDDS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)
Prepair 500+ v0.0 DHCR7 Seb Lunke gene: DHCR7 was added
gene: DHCR7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)
Prepair 500+ v0.0 DHCR24 Seb Lunke gene: DHCR24 was added
gene: DHCR24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)
Prepair 500+ v0.0 DGUOK Seb Lunke gene: DGUOK was added
gene: DGUOK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 DGAT1 Seb Lunke gene: DGAT1 was added
gene: DGAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type
Prepair 500+ v0.0 DDX11 Seb Lunke gene: DDX11 was added
gene: DDX11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)
Prepair 500+ v0.0 DDC Seb Lunke gene: DDC was added
gene: DDC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Prepair 500+ v0.0 DCX Seb Lunke gene: DCX was added
gene: DCX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)
Prepair 500+ v0.0 DCLRE1C Seb Lunke gene: DCLRE1C was added
gene: DCLRE1C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)
Prepair 500+ v0.0 DCAF17 Seb Lunke gene: DCAF17 was added
gene: DCAF17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)
Prepair 500+ v0.0 DBT Seb Lunke gene: DBT was added
gene: DBT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)
Prepair 500+ v0.0 D2HGDH Seb Lunke gene: D2HGDH was added
gene: D2HGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 CYP7B1 Seb Lunke gene: CYP7B1 was added
gene: CYP7B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)
Prepair 500+ v0.0 CYP27A1 Seb Lunke gene: CYP27A1 was added
gene: CYP27A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)
Prepair 500+ v0.0 CYP1B1 Seb Lunke gene: CYP1B1 was added
gene: CYP1B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Prepair 500+ v0.0 CYP17A1 Seb Lunke gene: CYP17A1 was added
gene: CYP17A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)
Prepair 500+ v0.0 CYP11B2 Seb Lunke gene: CYP11B2 was added
gene: CYP11B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Prepair 500+ v0.0 CYP11A1 Seb Lunke gene: CYP11A1 was added
gene: CYP11A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Prepair 500+ v0.0 CYBB Seb Lunke gene: CYBB was added
gene: CYBB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)
Prepair 500+ v0.0 CYBA Seb Lunke gene: CYBA was added
gene: CYBA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Prepair 500+ v0.0 CUL4B Seb Lunke gene: CUL4B was added
gene: CUL4B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Prepair 500+ v0.0 CTSK Seb Lunke gene: CTSK was added
gene: CTSK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)
Prepair 500+ v0.0 CTSD Seb Lunke gene: CTSD was added
gene: CTSD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Prepair 500+ v0.0 CTSC Seb Lunke gene: CTSC was added
gene: CTSC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)
Prepair 500+ v0.0 CTSA Seb Lunke gene: CTSA was added
gene: CTSA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)
Prepair 500+ v0.0 CTNS Seb Lunke gene: CTNS was added
gene: CTNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)
Prepair 500+ v0.0 CSPP1 Seb Lunke gene: CSPP1 was added
gene: CSPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)
Prepair 500+ v0.0 CRTAP Seb Lunke gene: CRTAP was added
gene: CRTAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)
Prepair 500+ v0.0 CRB1 Seb Lunke gene: CRB1 was added
gene: CRB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)
Prepair 500+ v0.0 CPT2 Seb Lunke gene: CPT2 was added
gene: CPT2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)
Prepair 500+ v0.0 CPT1A Seb Lunke gene: CPT1A was added
gene: CPT1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 CPS1 Seb Lunke gene: CPS1 was added
gene: CPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)
Prepair 500+ v0.0 COX15 Seb Lunke gene: COX15 was added
gene: COX15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Prepair 500+ v0.0 COLQ Seb Lunke gene: COLQ was added
gene: COLQ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)
Prepair 500+ v0.0 COLEC11 Seb Lunke gene: COLEC11 was added
gene: COLEC11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)
Prepair 500+ v0.0 COL7A1 Seb Lunke gene: COL7A1 was added
gene: COL7A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)
Prepair 500+ v0.0 COL6A1 Seb Lunke gene: COL6A1 was added
gene: COL6A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Prepair 500+ v0.0 COL4A5 Seb Lunke gene: COL4A5 was added
gene: COL4A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A5 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: COL4A5 were set to Alport syndrome 1, X-linked
Prepair 500+ v0.0 COL4A4 Seb Lunke gene: COL4A4 was added
gene: COL4A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)
Prepair 500+ v0.0 COL4A3 Seb Lunke gene: COL4A3 was added
gene: COL4A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)
Prepair 500+ v0.0 COL27A1 Seb Lunke gene: COL27A1 was added
gene: COL27A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL27A1 were set to Steel Syndrome
Prepair 500+ v0.0 COL18A1 Seb Lunke gene: COL18A1 was added
gene: COL18A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)
Prepair 500+ v0.0 COL17A1 Seb Lunke gene: COL17A1 was added
gene: COL17A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Prepair 500+ v0.0 COL11A2 Seb Lunke gene: COL11A2 was added
gene: COL11A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)
Prepair 500+ v0.0 CNGB3 Seb Lunke gene: CNGB3 was added
gene: CNGB3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)
Prepair 500+ v0.0 CLRN1 Seb Lunke gene: CLRN1 was added
gene: CLRN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)
Prepair 500+ v0.0 CLPB Seb Lunke gene: CLPB was added
gene: CLPB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 CLP1 Seb Lunke gene: CLP1 was added
gene: CLP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)
Prepair 500+ v0.0 CLN8 Seb Lunke gene: CLN8 was added
gene: CLN8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Prepair 500+ v0.0 CLN6 Seb Lunke gene: CLN6 was added
gene: CLN6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Prepair 500+ v0.0 CLN5 Seb Lunke gene: CLN5 was added
gene: CLN5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Prepair 500+ v0.0 CLN3 Seb Lunke gene: CLN3 was added
gene: CLN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Prepair 500+ v0.0 CLCN7 Seb Lunke gene: CLCN7 was added
gene: CLCN7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)
Prepair 500+ v0.0 CLCN5 Seb Lunke gene: CLCN5 was added
gene: CLCN5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)
Prepair 500+ v0.0 CKAP2L Seb Lunke gene: CKAP2L was added
gene: CKAP2L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)
Prepair 500+ v0.0 CIITA Seb Lunke gene: CIITA was added
gene: CIITA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Prepair 500+ v0.0 CHRNG Seb Lunke gene: CHRNG was added
gene: CHRNG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)
Prepair 500+ v0.0 CHRNE Seb Lunke gene: CHRNE was added
gene: CHRNE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Prepair 500+ v0.0 CHAT Seb Lunke gene: CHAT was added
gene: CHAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Prepair 500+ v0.0 CFTR Seb Lunke gene: CFTR was added
gene: CFTR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)
Prepair 500+ v0.0 CEP41 Seb Lunke gene: CEP41 was added
gene: CEP41 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)
Prepair 500+ v0.0 CEP290 Seb Lunke gene: CEP290 was added
gene: CEP290 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)
Prepair 500+ v0.0 CEP152 Seb Lunke gene: CEP152 was added
gene: CEP152 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)
Prepair 500+ v0.0 CENPJ Seb Lunke gene: CENPJ was added
gene: CENPJ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)
Prepair 500+ v0.0 CDH23 Seb Lunke gene: CDH23 was added
gene: CDH23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)
Prepair 500+ v0.0 CD40LG Seb Lunke gene: CD40LG was added
gene: CD40LG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Prepair 500+ v0.0 CD40 Seb Lunke gene: CD40 was added
gene: CD40 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Prepair 500+ v0.0 CD3D Seb Lunke gene: CD3D was added
gene: CD3D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)
Prepair 500+ v0.0 CCDC88C Seb Lunke gene: CCDC88C was added
gene: CCDC88C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
Prepair 500+ v0.0 CCDC39 Seb Lunke gene: CCDC39 was added
gene: CCDC39 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)
Prepair 500+ v0.0 CCDC103 Seb Lunke gene: CCDC103 was added
gene: CCDC103 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)
Prepair 500+ v0.0 CCBE1 Seb Lunke gene: CCBE1 was added
gene: CCBE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Prepair 500+ v0.0 CC2D2A Seb Lunke gene: CC2D2A was added
gene: CC2D2A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)
Prepair 500+ v0.0 CC2D1A Seb Lunke gene: CC2D1A was added
gene: CC2D1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)
Prepair 500+ v0.0 CASQ2 Seb Lunke gene: CASQ2 was added
gene: CASQ2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASQ2 were set to 34012068
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Prepair 500+ v0.0 CASK Seb Lunke gene: CASK was added
gene: CASK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus
Prepair 500+ v0.0 CAPN3 Seb Lunke gene: CAPN3 was added
gene: CAPN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
Prepair 500+ v0.0 CANT1 Seb Lunke gene: CANT1 was added
gene: CANT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)
Prepair 500+ v0.0 C5orf42 Seb Lunke gene: C5orf42 was added
gene: C5orf42 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)
Prepair 500+ v0.0 BTK Seb Lunke gene: BTK was added
gene: BTK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Prepair 500+ v0.0 BSND Seb Lunke gene: BSND was added
gene: BSND was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)
Prepair 500+ v0.0 BRWD3 Seb Lunke gene: BRWD3 was added
gene: BRWD3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)
Prepair 500+ v0.0 BRAT1 Seb Lunke gene: BRAT1 was added
gene: BRAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Prepair 500+ v0.0 BLM Seb Lunke gene: BLM was added
gene: BLM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)
Prepair 500+ v0.0 BCS1L Seb Lunke gene: BCS1L was added
gene: BCS1L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)
Prepair 500+ v0.0 BCKDHB Seb Lunke gene: BCKDHB was added
gene: BCKDHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)
Prepair 500+ v0.0 BCKDHA Seb Lunke gene: BCKDHA was added
gene: BCKDHA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)
Prepair 500+ v0.0 BBS9 Seb Lunke gene: BBS9 was added
gene: BBS9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)
Prepair 500+ v0.0 BBS7 Seb Lunke gene: BBS7 was added
gene: BBS7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)
Prepair 500+ v0.0 BBS5 Seb Lunke gene: BBS5 was added
gene: BBS5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)
Prepair 500+ v0.0 BBS4 Seb Lunke gene: BBS4 was added
gene: BBS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)
Prepair 500+ v0.0 BBS2 Seb Lunke gene: BBS2 was added
gene: BBS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)
Prepair 500+ v0.0 BBS12 Seb Lunke gene: BBS12 was added
gene: BBS12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)
Prepair 500+ v0.0 BBS10 Seb Lunke gene: BBS10 was added
gene: BBS10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)
Prepair 500+ v0.0 BBS1 Seb Lunke gene: BBS1 was added
gene: BBS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)
Prepair 500+ v0.0 B3GLCT Seb Lunke gene: B3GLCT was added
gene: B3GLCT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)
Prepair 500+ v0.0 AUH Seb Lunke gene: AUH was added
gene: AUH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)
Prepair 500+ v0.0 ATRX Seb Lunke gene: ATRX was added
gene: ATRX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Prepair 500+ v0.0 ATR Seb Lunke gene: ATR was added
gene: ATR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)
Prepair 500+ v0.0 ATP8B1 Seb Lunke gene: ATP8B1 was added
gene: ATP8B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Prepair 500+ v0.0 ATP7B Seb Lunke gene: ATP7B was added
gene: ATP7B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 28433102
Phenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)
Prepair 500+ v0.0 ATP7A Seb Lunke gene: ATP7A was added
gene: ATP7A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)
Prepair 500+ v0.0 ATP6V1B1 Seb Lunke gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)
Prepair 500+ v0.0 ATM Seb Lunke gene: ATM was added
gene: ATM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)
Prepair 500+ v0.0 ASS1 Seb Lunke gene: ASS1 was added
gene: ASS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)
Prepair 500+ v0.0 ASPM Seb Lunke gene: ASPM was added
gene: ASPM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)
Prepair 500+ v0.0 ASPA Seb Lunke gene: ASPA was added
gene: ASPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease, 271900 (3)
Prepair 500+ v0.0 ASNS Seb Lunke gene: ASNS was added
gene: ASNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)
Prepair 500+ v0.0 ASL Seb Lunke gene: ASL was added
gene: ASL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)
Prepair 500+ v0.0 ARX Seb Lunke gene: ARX was added
gene: ARX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)
Prepair 500+ v0.0 ARSB Seb Lunke gene: ARSB was added
gene: ARSB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
Prepair 500+ v0.0 ARSA Seb Lunke gene: ARSA was added
gene: ARSA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3)
Prepair 500+ v0.0 ARL6 Seb Lunke gene: ARL6 was added
gene: ARL6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3)
Prepair 500+ v0.0 ARL13B Seb Lunke gene: ARL13B was added
gene: ARL13B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3)
Prepair 500+ v0.0 ARG1 Seb Lunke gene: ARG1 was added
gene: ARG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia, 207800 (3)
Prepair 500+ v0.0 AQP2 Seb Lunke gene: AQP2 was added
gene: AQP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)
Prepair 500+ v0.0 AP1S2 Seb Lunke gene: AP1S2 was added
gene: AP1S2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3)
Prepair 500+ v0.0 AMT Seb Lunke gene: AMT was added
gene: AMT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)
Prepair 500+ v0.0 AMPD2 Seb Lunke gene: AMPD2 was added
gene: AMPD2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3)
Prepair 500+ v0.0 ALPL Seb Lunke gene: ALPL was added
gene: ALPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3)
Prepair 500+ v0.0 ALMS1 Seb Lunke gene: ALMS1 was added
gene: ALMS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3)
Prepair 500+ v0.0 ALG6 Seb Lunke gene: ALG6 was added
gene: ALG6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3)
Prepair 500+ v0.0 ALG3 Seb Lunke gene: ALG3 was added
gene: ALG3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3)
Prepair 500+ v0.0 ALG1 Seb Lunke gene: ALG1 was added
gene: ALG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)
Prepair 500+ v0.0 ALDOB Seb Lunke gene: ALDOB was added
gene: ALDOB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)
Prepair 500+ v0.0 ALDH7A1 Seb Lunke gene: ALDH7A1 was added
gene: ALDH7A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3)
Prepair 500+ v0.0 ALDH5A1 Seb Lunke gene: ALDH5A1 was added
gene: ALDH5A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Prepair 500+ v0.0 ALDH3A2 Seb Lunke gene: ALDH3A2 was added
gene: ALDH3A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3)
Prepair 500+ v0.0 ALDH18A1 Seb Lunke gene: ALDH18A1 was added
gene: ALDH18A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Prepair 500+ v0.0 AK2 Seb Lunke gene: AK2 was added
gene: AK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3)
Prepair 500+ v0.0 AIPL1 Seb Lunke gene: AIPL1 was added
gene: AIPL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3)
Prepair 500+ v0.0 AIFM1 Seb Lunke gene: AIFM1 was added
gene: AIFM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 Cowchock syndrome, 310490 (3)
Prepair 500+ v0.0 AHI1 Seb Lunke gene: AHI1 was added
gene: AHI1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)
Prepair 500+ v0.0 AGXT Seb Lunke gene: AGXT was added
gene: AGXT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)
Prepair 500+ v0.0 AGPS Seb Lunke gene: AGPS was added
gene: AGPS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)
Prepair 500+ v0.0 AGL Seb Lunke gene: AGL was added
gene: AGL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3)
Prepair 500+ v0.0 AGK Seb Lunke gene: AGK was added
gene: AGK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3)
Prepair 500+ v0.0 AGA Seb Lunke gene: AGA was added
gene: AGA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3)
Prepair 500+ v0.0 ADSL Seb Lunke gene: ADSL was added
gene: ADSL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3)
Prepair 500+ v0.0 ADGRV1 Seb Lunke gene: ADGRV1 was added
gene: ADGRV1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3)
Prepair 500+ v0.0 ADGRG1 Seb Lunke gene: ADGRG1 was added
gene: ADGRG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3)
Prepair 500+ v0.0 ADAR Seb Lunke gene: ADAR was added
gene: ADAR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)
Prepair 500+ v0.0 ADAMTS2 Seb Lunke gene: ADAMTS2 was added
gene: ADAMTS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)
Prepair 500+ v0.0 ADA Seb Lunke gene: ADA was added
gene: ADA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)
Prepair 500+ v0.0 ACOX1 Seb Lunke gene: ACOX1 was added
gene: ACOX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Prepair 500+ v0.0 ACAT1 Seb Lunke gene: ACAT1 was added
gene: ACAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3)
Prepair 500+ v0.0 ACADVL Seb Lunke gene: ACADVL was added
gene: ACADVL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3)
Prepair 500+ v0.0 ACADM Seb Lunke gene: ACADM was added
gene: ACADM was added to Prepair 500+. Sources: Expert Review,Expert Review Green
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, MIM #201450
Prepair 500+ v0.0 ACAD9 Seb Lunke gene: ACAD9 was added
gene: ACAD9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
Prepair 500+ v0.0 ABCD1 Seb Lunke gene: ABCD1 was added
gene: ABCD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3)
Prepair 500+ v0.0 ABCC8 Seb Lunke gene: ABCC8 was added
gene: ABCC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Prepair 500+ v0.0 ABCB4 Seb Lunke gene: ABCB4 was added
gene: ABCB4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Prepair 500+ v0.0 ABCB11 Seb Lunke gene: ABCB11 was added
gene: ABCB11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3)
Prepair 500+ v0.0 ABCA3 Seb Lunke gene: ABCA3 was added
gene: ABCA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
Prepair 500+ v0.0 ABCA12 Seb Lunke gene: ABCA12 was added
gene: ABCA12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Prepair 500+ v0.0 AARS2 Seb Lunke gene: AARS2 was added
gene: AARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
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 (3)
Prepair 500+ v0.0 AAAS Seb Lunke gene: AAAS was added
gene: AAAS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Prepair 500+ v0.0 Seb Lunke Added panel Prepair 500+
Inflammatory bowel disease v0.110 FMNL2 Zornitza Stark Marked gene: FMNL2 as ready
Inflammatory bowel disease v0.110 FMNL2 Zornitza Stark Gene: fmnl2 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.110 FMNL2 Zornitza Stark gene: FMNL2 was added
gene: FMNL2 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: FMNL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FMNL2 were set to 34043722
Phenotypes for gene: FMNL2 were set to inflammatory bowel disease, MONDO:0005265, FMNL2-related
Review for gene: FMNL2 was set to RED
Added comment: A patient was reported with a de novo heterozygous FMNL2 variant (p.Leu136Pro) and with severe very early onset inflammatory bowel disease (IBD). The functional characterisation of this variant showed that FMNL2 L136P protein displayed subcellular mislocalisation and deregulated protein autoinhibition indicating gain-of-function mechanism (PMID:34043722).
Sources: Literature
Mendeliome v1.1353 FMNL2 Zornitza Stark Marked gene: FMNL2 as ready
Mendeliome v1.1353 FMNL2 Zornitza Stark Gene: fmnl2 has been classified as Red List (Low Evidence).
Mendeliome v1.1353 FMNL2 Zornitza Stark Phenotypes for gene: FMNL2 were changed from inflammatory bowel disease, MONDO:0005265 to inflammatory bowel disease, MONDO:0005265, FMNL2-related
Mendeliome v1.1352 FMNL2 Zornitza Stark Classified gene: FMNL2 as Red List (low evidence)
Mendeliome v1.1352 FMNL2 Zornitza Stark Gene: fmnl2 has been classified as Red List (Low Evidence).
Mendeliome v1.1351 FMNL2 Achchuthan Shanmugasundram gene: FMNL2 was added
gene: FMNL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FMNL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FMNL2 were set to 34043722
Phenotypes for gene: FMNL2 were set to inflammatory bowel disease, MONDO:0005265
Mode of pathogenicity for gene: FMNL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: FMNL2 was set to AMBER
Added comment: A patient was reported with a de novo heterozygous FMNL2 variant (p.Leu136Pro) and with severe very early onset inflammatory bowel disease (IBD). The functional characterisation of this variant showed that FMNL2 L136P protein displayed subcellular mislocalisation and deregulated protein autoinhibition indicating gain-of-function mechanism (PMID:34043722).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5607 HIST1H4J Zornitza Stark Publications for gene: HIST1H4J were set to 31804630
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4J Zornitza Stark Marked gene: HIST1H4J as ready
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4J Zornitza Stark Added comment: Comment when marking as ready: New gene name: H4C11
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4J Zornitza Stark Gene: hist1h4j has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4J Zornitza Stark Tag new gene name tag was added to gene: HIST1H4J.
Mendeliome v1.1351 HIST1H4J Zornitza Stark Publications for gene: HIST1H4J were set to 31804630
Mendeliome v1.1350 HIST1H4J Zornitza Stark Marked gene: HIST1H4J as ready
Mendeliome v1.1350 HIST1H4J Zornitza Stark Added comment: Comment when marking as ready: New gene name: H4C11
Mendeliome v1.1350 HIST1H4J Zornitza Stark Gene: hist1h4j has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1350 HIST1H4J Zornitza Stark Tag new gene name tag was added to gene: HIST1H4J.
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4I Zornitza Stark Marked gene: HIST1H4I as ready
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4I Zornitza Stark Added comment: Comment when marking as ready: New gene name: H4C9
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4I Zornitza Stark Gene: hist1h4i has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4I Zornitza Stark Tag new gene name tag was added to gene: HIST1H4I.
Mendeliome v1.1350 HIST1H4I Zornitza Stark Marked gene: HIST1H4I as ready
Mendeliome v1.1350 HIST1H4I Zornitza Stark Added comment: Comment when marking as ready: New gene name: H4C9
Mendeliome v1.1350 HIST1H4I Zornitza Stark Gene: hist1h4i has been classified as Green List (High Evidence).
Mendeliome v1.1350 HIST1H4I Zornitza Stark Tag new gene name tag was added to gene: HIST1H4I.
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4F Zornitza Stark Marked gene: HIST1H4F as ready
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4F Zornitza Stark Added comment: Comment when marking as ready: New gene name H4C6
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4F Zornitza Stark Tag new gene name tag was added to gene: HIST1H4F.
Mendeliome v1.1350 HIST1H4F Zornitza Stark Marked gene: HIST1H4F as ready
Mendeliome v1.1350 HIST1H4F Zornitza Stark Added comment: Comment when marking as ready: New gene name H4C6
Mendeliome v1.1350 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1350 HIST1H4F Zornitza Stark Tag new gene name tag was added to gene: HIST1H4F.
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4E Zornitza Stark Tag new gene name tag was added to gene: HIST1H4E.
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4D Zornitza Stark Tag new gene name tag was added to gene: HIST1H4D.
Mendeliome v1.1350 HIST1H4D Zornitza Stark Marked gene: HIST1H4D as ready
Mendeliome v1.1350 HIST1H4D Zornitza Stark Added comment: Comment when marking as ready: New gene name H4C4
Mendeliome v1.1350 HIST1H4D Zornitza Stark Gene: hist1h4d has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1350 HIST1H4D Zornitza Stark Tag new gene name tag was added to gene: HIST1H4D.
Fetal anomalies v1.161 HIST1H4C Zornitza Stark Tag new gene name tag was added to gene: HIST1H4C.
Intellectual disability syndromic and non-syndromic v0.5606 HIST1H4C Zornitza Stark Tag new gene name tag was added to gene: HIST1H4C.
Microcephaly v1.236 HIST1H4C Zornitza Stark Tag new gene name tag was added to gene: HIST1H4C.
Mendeliome v1.1350 HIST1H4C Zornitza Stark Tag new gene name tag was added to gene: HIST1H4C.
Prepair 1000+ v1.3 ZNF711 Seb Lunke Added phenotypes Mental retardation, X-linked 97, 300803 (3) for gene: ZNF711
Prepair 1000+ v1.3 ZFYVE26 Seb Lunke Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 (3) for gene: ZFYVE26
Prepair 1000+ v1.3 ZDHHC9 Seb Lunke Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 (3) for gene: ZDHHC9
Prepair 1000+ v1.3 ZBTB24 Seb Lunke Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) for gene: ZBTB24
Prepair 1000+ v1.3 YARS2 Seb Lunke Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) for gene: YARS2
Prepair 1000+ v1.3 XPC Seb Lunke Added phenotypes Xeroderma pigmentosum, group C, 278720 (3) for gene: XPC
Prepair 1000+ v1.3 XPA Seb Lunke Added phenotypes Xeroderma pigmentosum, group A, 278700 (3) for gene: XPA
Prepair 1000+ v1.3 XIAP Seb Lunke Added phenotypes Lymphoproliferative syndrome, X-linked, 2, 300635 (3) for gene: XIAP
Prepair 1000+ v1.3 WWOX Seb Lunke Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211 (3) for gene: WWOX
Prepair 1000+ v1.3 WRN Seb Lunke Added phenotypes Werner syndrome, 277700 (3) for gene: WRN
Prepair 1000+ v1.3 WISP3 Seb Lunke Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) for gene: WISP3
Prepair 1000+ v1.3 WHRN Seb Lunke Added phenotypes Usher syndrome, type 2D, 611383 (3) for gene: WHRN
Prepair 1000+ v1.3 WDR81 Seb Lunke Added phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) for gene: WDR81
Prepair 1000+ v1.3 WDR62 Seb Lunke Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) for gene: WDR62
Prepair 1000+ v1.3 WDR34 Seb Lunke Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) for gene: WDR34
Prepair 1000+ v1.3 WAS Seb Lunke Added phenotypes Wiskott-Aldrich syndrome, 301000 (3) for gene: WAS
Prepair 1000+ v1.3 VSX2 Seb Lunke Added phenotypes Microphthalmia with coloboma 3, 610092 (3) for gene: VSX2
Prepair 1000+ v1.3 VRK1 Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 1A, 607596 (3) for gene: VRK1
Prepair 1000+ v1.3 VPS53 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 (3) for gene: VPS53
Prepair 1000+ v1.3 VPS45 Seb Lunke Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) for gene: VPS45
Prepair 1000+ v1.3 VPS13B Seb Lunke Added phenotypes Cohen syndrome, 216550 (3) for gene: VPS13B
Prepair 1000+ v1.3 VPS11 Seb Lunke Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive for gene: VPS11
Prepair 1000+ v1.3 VLDLR Seb Lunke Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) for gene: VLDLR
Prepair 1000+ v1.3 USP9X Seb Lunke Added phenotypes Mental retardation, X-linked 99, 300919 (3) for gene: USP9X
Prepair 1000+ v1.3 USH2A Seb Lunke Added phenotypes Usher syndrome, type 2A, 276901 (3) for gene: USH2A
Prepair 1000+ v1.3 USH1G Seb Lunke Added phenotypes Usher syndrome, type 1G, 606943 (3) for gene: USH1G
Prepair 1000+ v1.3 USH1C Seb Lunke Added phenotypes Usher syndrome, type 1C, 276904 (3) for gene: USH1C
Prepair 1000+ v1.3 UPF3B Seb Lunke Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 (3) for gene: UPF3B
Prepair 1000+ v1.3 UNC13D Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) for gene: UNC13D
Prepair 1000+ v1.3 UGT1A1 Seb Lunke Added phenotypes Crigler-Najjar syndrome, type I, 218800 (3) for gene: UGT1A1
Prepair 1000+ v1.3 UBR1 Seb Lunke Added phenotypes Johanson-Blizzard syndrome, 243800 (3) for gene: UBR1
Prepair 1000+ v1.3 UBE2T Seb Lunke Added phenotypes Fanconi anemia, complementation group T, 616435 (3) for gene: UBE2T
Prepair 1000+ v1.3 UBA5 Seb Lunke Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive for gene: UBA5
Prepair 1000+ v1.3 TYRP1 Seb Lunke Added phenotypes Albinism, oculocutaneous, type III, 203290 (3) for gene: TYRP1
Prepair 1000+ v1.3 TYR Seb Lunke Added phenotypes Albinism, oculocutaneous, type IA, 203100 (3) for gene: TYR
Prepair 1000+ v1.3 TYMP Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) for gene: TYMP
Prepair 1000+ v1.3 TWNK Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) for gene: TWNK
Prepair 1000+ v1.3 TULP1 Seb Lunke Added phenotypes Retinitis pigmentosa 14, 600132 (3) for gene: TULP1
Prepair 1000+ v1.3 TTPA Seb Lunke Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 (3) for gene: TTPA
Prepair 1000+ v1.3 TTC8 Seb Lunke Added phenotypes Bardet-Biedl syndrome 8, 615985 (3) for gene: TTC8
Prepair 1000+ v1.3 TTC7A Seb Lunke Added phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) for gene: TTC7A
Prepair 1000+ v1.3 TTC37 Seb Lunke Added phenotypes Trichohepatoenteric syndrome 1, 222470 (3) for gene: TTC37
Prepair 1000+ v1.3 TSHB Seb Lunke Added phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 (3) for gene: TSHB
Prepair 1000+ v1.3 TSFM Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 (3) for gene: TSFM
Prepair 1000+ v1.3 TSEN54 Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 2A, 277470 (3) for gene: TSEN54
Prepair 1000+ v1.3 TSEN2 Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 (3) for gene: TSEN2
Prepair 1000+ v1.3 TRPM6 Seb Lunke Added phenotypes Hypomagnesemia 1, intestinal, 602014 (3) for gene: TRPM6
Prepair 1000+ v1.3 TRMU Seb Lunke Added phenotypes Liver failure, transient infantile, 613070 (3) for gene: TRMU
Prepair 1000+ v1.3 TRIM37 Seb Lunke Added phenotypes Mulibrey nanism, 253250 (3) for gene: TRIM37
Prepair 1000+ v1.3 TRIM32 Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 (3) for gene: TRIM32
Prepair 1000+ v1.3 TREX1 Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) for gene: TREX1
Prepair 1000+ v1.3 TRDN Seb Lunke Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) for gene: TRDN
Prepair 1000+ v1.3 TPP1 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 (3) for gene: TPP1
Prepair 1000+ v1.3 TOE1 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive for gene: TOE1
Prepair 1000+ v1.3 TMTC3 Seb Lunke Added phenotypes Lissencephaly 8, 617255 (3), Autosomal recessive for gene: TMTC3
Prepair 1000+ v1.3 TMEM67 Seb Lunke Added phenotypes Joubert syndrome 6, 610688 (3) for gene: TMEM67
Prepair 1000+ v1.3 TMEM237 Seb Lunke Added phenotypes Joubert syndrome 14, 614424 (3) for gene: TMEM237
Prepair 1000+ v1.3 TMEM231 Seb Lunke Added phenotypes Joubert syndrome 20, 614970 (3) for gene: TMEM231
Prepair 1000+ v1.3 TMEM216 Seb Lunke Added phenotypes Joubert syndrome 2, 608091 (3) for gene: TMEM216
Prepair 1000+ v1.3 TMEM138 Seb Lunke Added phenotypes Joubert syndrome 16, 614465 (3) for gene: TMEM138
Prepair 1000+ v1.3 TK2 Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) for gene: TK2
Prepair 1000+ v1.3 THOC2 Seb Lunke Added phenotypes Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive for gene: THOC2
Prepair 1000+ v1.3 TH Seb Lunke Added phenotypes Segawa syndrome, recessive, MIM# 605407 for gene: TH
Prepair 1000+ v1.3 TGM1 Seb Lunke Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 (3) for gene: TGM1
Prepair 1000+ v1.3 TF Seb Lunke Added phenotypes Atransferrinemia, 209300 (3) for gene: TF
Prepair 1000+ v1.3 TELO2 Seb Lunke Added phenotypes You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive for gene: TELO2
Prepair 1000+ v1.3 TECPR2 Seb Lunke Added phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 for gene: TECPR2
Publications for gene TECPR2 were updated from 23176824; 26542466; 35130874 to 26542466; 23176824; 35130874
Prepair 1000+ v1.3 TCTN3 Seb Lunke Added phenotypes Joubert syndrome 18, 614815 (3) for gene: TCTN3
Prepair 1000+ v1.3 TCTN2 Seb Lunke Added phenotypes Joubert syndrome 24 for gene: TCTN2
Prepair 1000+ v1.3 TCN2 Seb Lunke Added phenotypes Transcobalamin II deficiency, 275350 (3) for gene: TCN2
Prepair 1000+ v1.3 TCIRG1 Seb Lunke Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 (3) for gene: TCIRG1
Prepair 1000+ v1.3 TBCE Seb Lunke Added phenotypes Kenny-Caffey syndrome-1, 244460 (3) for gene: TBCE
Prepair 1000+ v1.3 TBCD Seb Lunke Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive for gene: TBCD
Prepair 1000+ v1.3 TBC1D24 Seb Lunke Added phenotypes Epileptic encephalopathy, early infantile, 16, 615338 (3) for gene: TBC1D24
Prepair 1000+ v1.3 TBC1D23 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive for gene: TBC1D23
Prepair 1000+ v1.3 TAZ Seb Lunke Added phenotypes Barth syndrome, 302060 (3) for gene: TAZ
Prepair 1000+ v1.3 TAT Seb Lunke Added phenotypes Tyrosinemia, type II (MIM#276600) for gene: TAT
Prepair 1000+ v1.3 TANGO2 Seb Lunke Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration for gene: TANGO2
Prepair 1000+ v1.3 SYN1 Seb Lunke Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) for gene: SYN1
Prepair 1000+ v1.3 SURF1 Seb Lunke Added phenotypes Leigh syndrome, due to COX deficiency, 256000 (3) for gene: SURF1
Prepair 1000+ v1.3 SUOX Seb Lunke Added phenotypes Sulfite oxidase deficiency, 272300 (3) for gene: SUOX
Prepair 1000+ v1.3 SUMF1 Seb Lunke Added phenotypes Multiple sulfatase deficiency, 272200 (3) for gene: SUMF1
Prepair 1000+ v1.3 STXBP2 Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) for gene: STXBP2
Prepair 1000+ v1.3 STX11 Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) for gene: STX11
Prepair 1000+ v1.3 STAR Seb Lunke Added phenotypes Lipoid adrenal hyperplasia, 201710 (3) for gene: STAR
Prepair 1000+ v1.3 ST3GAL5 Seb Lunke Added phenotypes Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive for gene: ST3GAL5
Prepair 1000+ v1.3 SPR Seb Lunke Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) for gene: SPR
Prepair 1000+ v1.3 SPINK5 Seb Lunke Added phenotypes Netherton syndrome, 256500 (3) for gene: SPINK5
Prepair 1000+ v1.3 SPG11 Seb Lunke Added phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 for gene: SPG11
Prepair 1000+ v1.3 SPATA5 Seb Lunke Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive for gene: SPATA5
Prepair 1000+ v1.3 SNAP29 Seb Lunke Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) for gene: SNAP29
Prepair 1000+ v1.3 SMPD1 Seb Lunke Added phenotypes Niemann-Pick disease, type A, 257200 (3) for gene: SMPD1
Prepair 1000+ v1.3 SMN1 Seb Lunke Added phenotypes Spinal muscular atrophy-1, 253300 (3) for gene: SMN1
Prepair 1000+ v1.3 SMARCAL1 Seb Lunke Added phenotypes Schimke immunoosseous dysplasia, 242900 (3) for gene: SMARCAL1
Prepair 1000+ v1.3 SLC7A7 Seb Lunke Added phenotypes Lysinuric protein intolerance, 222700 (3) for gene: SLC7A7
Prepair 1000+ v1.3 SLC6A8 Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 (3) for gene: SLC6A8
Prepair 1000+ v1.3 SLC6A5 Seb Lunke Added phenotypes Hyperekplexia 3, 614618 (3) for gene: SLC6A5
Prepair 1000+ v1.3 SLC52A3 Seb Lunke Added phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3) for gene: SLC52A3
Prepair 1000+ v1.3 SLC52A2 Seb Lunke Added phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 (3) for gene: SLC52A2
Prepair 1000+ v1.3 SLC46A1 Seb Lunke Added phenotypes Folate malabsorption, hereditary, 229050 (3) for gene: SLC46A1
Prepair 1000+ v1.3 SLC45A2 Seb Lunke Added phenotypes Albinism, oculocutaneous, type IV, 606574 (3) for gene: SLC45A2
Prepair 1000+ v1.3 SLC39A4 Seb Lunke Added phenotypes Acrodermatitis enteropathica, 201100 (3) for gene: SLC39A4
Prepair 1000+ v1.3 SLC38A8 Seb Lunke Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) for gene: SLC38A8
Prepair 1000+ v1.3 SLC37A4 Seb Lunke Added phenotypes Glycogen storage disease Ib, 232220 (3) for gene: SLC37A4
Prepair 1000+ v1.3 SLC35A3 Seb Lunke Added phenotypes Arthrogryposis, mental retardation, and seizures (MIM615553) for gene: SLC35A3
Publications for gene SLC35A3 were updated from 24031089; 28777481; 28328131 to 28777481; 28328131; 24031089
Prepair 1000+ v1.3 SLC26A3 Seb Lunke Added phenotypes Diarrhea 1, secretory chloride, congenital, 214700 (3) for gene: SLC26A3
Prepair 1000+ v1.3 SLC26A2 Seb Lunke Added phenotypes Achondrogenesis Ib, 600972 (3) for gene: SLC26A2
Prepair 1000+ v1.3 SLC25A15 Seb Lunke Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) for gene: SLC25A15
Prepair 1000+ v1.3 SLC25A13 Seb Lunke Added phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3) for gene: SLC25A13
Prepair 1000+ v1.3 SLC25A1 Seb Lunke Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) for gene: SLC25A1
Prepair 1000+ v1.3 SLC22A5 Seb Lunke Added phenotypes Carnitine deficiency, systemic primary, 212140 (3) for gene: SLC22A5
Prepair 1000+ v1.3 SLC1A4 Seb Lunke Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) for gene: SLC1A4
Prepair 1000+ v1.3 SLC19A3 Seb Lunke Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) for gene: SLC19A3
Prepair 1000+ v1.3 SLC19A2 Seb Lunke Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) for gene: SLC19A2
Prepair 1000+ v1.3 SLC17A5 Seb Lunke Added phenotypes Sialic acid storage disorder, infantile, 269920 (3) for gene: SLC17A5
Prepair 1000+ v1.3 SLC16A2 Seb Lunke Added phenotypes Allan-Herndon-Dudley syndrome for gene: SLC16A2
Prepair 1000+ v1.3 SLC12A6 Seb Lunke Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) for gene: SLC12A6
Prepair 1000+ v1.3 SLC12A1 Seb Lunke Added phenotypes Bartter syndrome, type 1, 601678 (3) for gene: SLC12A1
Prepair 1000+ v1.3 SKIV2L Seb Lunke Added phenotypes Trichohepatoenteric syndrome 2, 614602 (3) for gene: SKIV2L
Prepair 1000+ v1.3 SH3TC2 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596 (3) for gene: SH3TC2
Prepair 1000+ v1.3 SGSH Seb Lunke Added phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) for gene: SGSH
Prepair 1000+ v1.3 SGCG Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2C, 253700 (3) for gene: SGCG
Prepair 1000+ v1.3 SGCD Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 (3) for gene: SGCD
Prepair 1000+ v1.3 SGCB Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2E, 604286 (3) for gene: SGCB
Prepair 1000+ v1.3 SGCA Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2D, 608099 (3) for gene: SGCA
Prepair 1000+ v1.3 SERPINH1 Seb Lunke Added phenotypes Orofaciodigital syndrome VI, 277170 (3) for gene: SERPINH1
Prepair 1000+ v1.3 SERAC1 Seb Lunke Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) for gene: SERAC1
Prepair 1000+ v1.3 SEPSECS Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 (3) for gene: SEPSECS
Prepair 1000+ v1.3 SEC23B Seb Lunke Added phenotypes Dyserythropoietic anemia, congenital, type II, 224100 (3) for gene: SEC23B
Prepair 1000+ v1.3 SDCCAG8 Seb Lunke Added phenotypes Bardet-Biedl syndrome 16, 615993 (3) for gene: SDCCAG8
Prepair 1000+ v1.3 SCO2 Seb Lunke Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) for gene: SCO2
Prepair 1000+ v1.3 SC5D Seb Lunke Added phenotypes Lathosterolosis, 607330 (3) for gene: SC5D
Prepair 1000+ v1.3 SAMHD1 Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 5, 612952 (3) for gene: SAMHD1
Prepair 1000+ v1.3 SACS Seb Lunke Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) for gene: SACS
Prepair 1000+ v1.3 RYR1 Seb Lunke Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000 for gene: RYR1
Prepair 1000+ v1.3 RTEL1 Seb Lunke Added phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 (3) for gene: RTEL1
Prepair 1000+ v1.3 RPS6KA3 Seb Lunke Added phenotypes Coffin-Lowry syndrome for gene: RPS6KA3
Prepair 1000+ v1.3 RPGRIP1L Seb Lunke Added phenotypes Meckel syndrome 5, 611561 (3) for gene: RPGRIP1L
Prepair 1000+ v1.3 RPE65 Seb Lunke Added phenotypes Leber congenital amaurosis 2, 204100 (3) for gene: RPE65
Prepair 1000+ v1.3 RP2 Seb Lunke Added phenotypes Retinitis pigmentosa 2, 312600 (3) for gene: RP2
Prepair 1000+ v1.3 RNASEH2C Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 3, 610329 (3) for gene: RNASEH2C
Prepair 1000+ v1.3 RNASEH2B Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 2, 610181 (3) for gene: RNASEH2B
Prepair 1000+ v1.3 RNASEH2A Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 4, 610333 (3) for gene: RNASEH2A
Prepair 1000+ v1.3 RMRP Seb Lunke Added phenotypes Cartilage-hair hypoplasia, 250250 (3) for gene: RMRP
Prepair 1000+ v1.3 RMND1 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 (3) for gene: RMND1
Prepair 1000+ v1.3 RDH12 Seb Lunke Added phenotypes Leber congenital amaurosis 13, 612712 (3) for gene: RDH12
Prepair 1000+ v1.3 RBBP8 Seb Lunke Added phenotypes Seckel syndrome 2, 606744 (3) for gene: RBBP8
Prepair 1000+ v1.3 RAX Seb Lunke Added phenotypes Microphthalmia, isolated 3, 611038 (3) for gene: RAX
Prepair 1000+ v1.3 RARS2 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 (3) for gene: RARS2
Prepair 1000+ v1.3 RAPSN Seb Lunke Added phenotypes Fetal akinesia deformation sequence, 208150 (3) for gene: RAPSN
Prepair 1000+ v1.3 RAG2 Seb Lunke Added phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) for gene: RAG2
Publications for gene RAG2 were updated from 26996199; 30046960 to 30046960; 26996199
Prepair 1000+ v1.3 RAG1 Seb Lunke Added phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) for gene: RAG1
Prepair 1000+ v1.3 RAB3GAP2 Seb Lunke Added phenotypes Warburg micro syndrome 2, 614225 (3) for gene: RAB3GAP2
Prepair 1000+ v1.3 RAB3GAP1 Seb Lunke Added phenotypes Warburg micro syndrome 1, 600118 (3) for gene: RAB3GAP1
Prepair 1000+ v1.3 RAB23 Seb Lunke Added phenotypes Carpenter syndrome, 201000 (3) for gene: RAB23
Prepair 1000+ v1.3 RAB18 Seb Lunke Added phenotypes Warburg micro syndrome 3, 614222 (3) for gene: RAB18
Prepair 1000+ v1.3 QDPR Seb Lunke Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) for gene: QDPR
Prepair 1000+ v1.3 PUS1 Seb Lunke Added phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) for gene: PUS1
Prepair 1000+ v1.3 PTS Seb Lunke Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) for gene: PTS
Prepair 1000+ v1.3 PSAP Seb Lunke Added phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) for gene: PSAP
Prepair 1000+ v1.3 PRPS1 Seb Lunke Added phenotypes Arts syndrome, 301835 (3) for gene: PRPS1
Prepair 1000+ v1.3 PROP1 Seb Lunke Added phenotypes Pituitary hormone deficiency, combined, 2, 262600 (3) for gene: PROP1
Prepair 1000+ v1.3 PRF1 Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) for gene: PRF1
Prepair 1000+ v1.3 PRDM5 Seb Lunke Added phenotypes Brittle cornea syndrome 2, 614170 (3) for gene: PRDM5
Prepair 1000+ v1.3 PQBP1 Seb Lunke Added phenotypes Renpenning syndrome, 309500 (3) for gene: PQBP1
Prepair 1000+ v1.3 PPT1 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 (3) for gene: PPT1
Prepair 1000+ v1.3 POU1F1 Seb Lunke Added phenotypes Pituitary hormone deficiency, combined, 1, 613038 (3) for gene: POU1F1
Prepair 1000+ v1.3 POR Seb Lunke Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) for gene: POR
Prepair 1000+ v1.3 POMT2 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) for gene: POMT2
Prepair 1000+ v1.3 POMT1 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) for gene: POMT1
Prepair 1000+ v1.3 POMGNT1 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) for gene: POMGNT1
Prepair 1000+ v1.3 POLR3B Seb Lunke Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) for gene: POLR3B
Prepair 1000+ v1.3 POLR1C Seb Lunke Added phenotypes Treacher Collins syndrome 3, 248390 (3) for gene: POLR1C
Prepair 1000+ v1.3 POLG Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) for gene: POLG
Prepair 1000+ v1.3 PNPO Seb Lunke Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) for gene: PNPO
Prepair 1000+ v1.3 PNKP Seb Lunke Added phenotypes Microcephaly, seizures, and developmental delay, 613402 (3) for gene: PNKP
Prepair 1000+ v1.3 PMM2 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 (3) for gene: PMM2
Prepair 1000+ v1.3 PLPBP Seb Lunke Added phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive for gene: PLPBP
Prepair 1000+ v1.3 PLP1 Seb Lunke Added phenotypes Pelizaeus-Merzbacher disease, 312080 (3) for gene: PLP1
Prepair 1000+ v1.3 PLOD1 Seb Lunke Added phenotypes Ehlers-Danlos syndrome, type VI, 225400 (3) for gene: PLOD1
Prepair 1000+ v1.3 PLA2G6 Seb Lunke Added phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217; Infantile neuroaxonal dystrophy 1 MIM#256600 for gene: PLA2G6
Prepair 1000+ v1.3 PKHD1 Seb Lunke Added phenotypes Polycystic kidney and hepatic disease, 263200 (3) for gene: PKHD1
Prepair 1000+ v1.3 PIGT Seb Lunke Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT
Prepair 1000+ v1.3 PIGN Seb Lunke Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) for gene: PIGN
Prepair 1000+ v1.3 PIGG Seb Lunke Added phenotypes Mental retardation, autosomal recessive 53, 616917 (3) for gene: PIGG
Prepair 1000+ v1.3 PIBF1 Seb Lunke Added phenotypes Joubert syndrome 33 (MIM#617767) for gene: PIBF1
Publications for gene PIBF1 were updated from 26167768; 30858804; 29695797; 33004012 to 29695797; 33004012; 30858804; 26167768
Prepair 1000+ v1.3 PHYH Seb Lunke Added phenotypes Refsum disease, 266500 (3) for gene: PHYH
Prepair 1000+ v1.3 PHGDH Seb Lunke Added phenotypes Neu-Laxova syndrome1, 256520 (3) for gene: PHGDH
Prepair 1000+ v1.3 PHF8 Seb Lunke Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 (3) for gene: PHF8
Prepair 1000+ v1.3 PGM3 Seb Lunke Added phenotypes Immunodeficiency 23, 615816 (3) for gene: PGM3
Prepair 1000+ v1.3 PGM1 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type It, 614921 (3) for gene: PGM1
Prepair 1000+ v1.3 PGK1 Seb Lunke Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 (3) for gene: PGK1
Publications for gene PGK1 were updated from 16567715; 30887539; 22348148; 28580215 to 22348148; 16567715; 28580215; 30887539
Prepair 1000+ v1.3 PGAP2 Seb Lunke Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) for gene: PGAP2
Prepair 1000+ v1.3 PFKM Seb Lunke Added phenotypes Glycogen storage disease VII, 232800 (3) for gene: PFKM
Prepair 1000+ v1.3 PEX7 Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) for gene: PEX7
Prepair 1000+ v1.3 PEX6 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
Prepair 1000+ v1.3 PEX5 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 for gene: PEX5
Prepair 1000+ v1.3 PEX26 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 for gene: PEX26
Prepair 1000+ v1.3 PEX2 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866 for gene: PEX2
Prepair 1000+ v1.3 PEX16 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 for gene: PEX16
Prepair 1000+ v1.3 PEX13 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13
Prepair 1000+ v1.3 PEX12 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 for gene: PEX12
Prepair 1000+ v1.3 PEX10 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 for gene: PEX10
Prepair 1000+ v1.3 PEX1 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1
Prepair 1000+ v1.3 PET100 Seb Lunke Added phenotypes Mitochondrial complex IV deficiency, 220110 (3) for gene: PET100
Prepair 1000+ v1.3 PEPD Seb Lunke Added phenotypes Prolidase deficiency, 170100 (3) for gene: PEPD
Prepair 1000+ v1.3 PDHB Seb Lunke Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) for gene: PDHB
Prepair 1000+ v1.3 PDHA1 Seb Lunke Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) for gene: PDHA1
Publications for gene PDHA1 were updated from 28584645; 22142326 to 22142326; 28584645
Prepair 1000+ v1.3 PCNT Seb Lunke Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) for gene: PCNT
Prepair 1000+ v1.3 PCDH19 Seb Lunke Added phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088) for gene: PCDH19
Publications for gene PCDH19 were updated from 18469813; 30287595 to 30287595; 18469813
Prepair 1000+ v1.3 PCDH15 Seb Lunke Added phenotypes Usher syndrome, type 1F, 602083 (3) for gene: PCDH15
Prepair 1000+ v1.3 PCCB Seb Lunke Added phenotypes Propionicacidemia, 606054 (3) for gene: PCCB
Prepair 1000+ v1.3 PCCA Seb Lunke Added phenotypes Propionicacidemia, 606054 (3) for gene: PCCA
Prepair 1000+ v1.3 PC Seb Lunke Added phenotypes Pyruvate carboxylase deficiency, 266150 (3) for gene: PC
Prepair 1000+ v1.3 PANK2 Seb Lunke Added phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200 for gene: PANK2
Prepair 1000+ v1.3 PAK3 Seb Lunke Added phenotypes Mental retardation, X-linked 30/47, 300558 (3) for gene: PAK3
Prepair 1000+ v1.3 PAH Seb Lunke Added phenotypes Phenylketonuria, 261600 (3) for gene: PAH
Prepair 1000+ v1.3 P3H1 Seb Lunke Added phenotypes Osteogenesis imperfecta, type VIII, 610915 (3) for gene: P3H1
Prepair 1000+ v1.3 OTC Seb Lunke Added phenotypes Ornithine transcarbamylase deficiency, 311250 (3) for gene: OTC
Prepair 1000+ v1.3 OSTM1 Seb Lunke Added phenotypes Osteopetrosis, autosomal recessive 5, 259720 (3) for gene: OSTM1
Prepair 1000+ v1.3 OSGEP Seb Lunke Added phenotypes Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive for gene: OSGEP
Prepair 1000+ v1.3 OPHN1 Seb Lunke Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) for gene: OPHN1
Prepair 1000+ v1.3 OPA3 Seb Lunke Added phenotypes 3-methylglutaconic aciduria, type III, 258501 (3) for gene: OPA3
Prepair 1000+ v1.3 OPA1 Seb Lunke Added phenotypes Behr syndrome, 210000 (3), Autosomal recessive for gene: OPA1
Prepair 1000+ v1.3 OFD1 Seb Lunke Added phenotypes Joubert syndrome 10, 300804 (3) for gene: OFD1
Prepair 1000+ v1.3 OCRL Seb Lunke Added phenotypes Lowe syndrome, 309000 (3) for gene: OCRL
Prepair 1000+ v1.3 NTRK1 Seb Lunke Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 (3) for gene: NTRK1
Prepair 1000+ v1.3 NR0B1 Seb Lunke Added phenotypes 46XY sex reversal 2, dosage-sensitive, 300018 (3) for gene: NR0B1
Prepair 1000+ v1.3 NPHS2 Seb Lunke Added phenotypes Nephrotic syndrome, type 2, 600995 (3) for gene: NPHS2
Prepair 1000+ v1.3 NPHS1 Seb Lunke Added phenotypes Nephrotic syndrome, type 1, 256300 (3) for gene: NPHS1
Prepair 1000+ v1.3 NPHP3 Seb Lunke Added phenotypes Meckel syndrome 7, 267010 (3) for gene: NPHP3
Prepair 1000+ v1.3 NPHP1 Seb Lunke Added phenotypes Joubert syndrome 4, 609583 (3) for gene: NPHP1
Prepair 1000+ v1.3 NPC2 Seb Lunke Added phenotypes Niemann-pick disease, type C2, MIM#607625 for gene: NPC2
Prepair 1000+ v1.3 NPC1 Seb Lunke Added phenotypes Niemann-Pick disease, type C1, MIM#257220 for gene: NPC1
Publications for gene NPC1 were updated from 11333381; 26910362 to 26910362; 11333381
Prepair 1000+ v1.3 NNT Seb Lunke Added phenotypes Glucocorticoid deficiency 4, 614736 (3) for gene: NNT
Prepair 1000+ v1.3 NGLY1 Seb Lunke Added phenotypes Congenital disorder of deglycosylation, 615273 (3) for gene: NGLY1
Prepair 1000+ v1.3 NEU1 Seb Lunke Added phenotypes Sialidosis, type I, 256550 (3) for gene: NEU1
Prepair 1000+ v1.3 NEB Seb Lunke Added phenotypes Nemaline myopathy 2, autosomal recessive (MIM#256030); Arthrogryposis multiplex congenita 6 (MIM#619334) for gene: NEB
Prepair 1000+ v1.3 NDUFV1 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFV1
Prepair 1000+ v1.3 NDUFS7 Seb Lunke Added phenotypes Leigh syndrome, 256000 (3) for gene: NDUFS7
Prepair 1000+ v1.3 NDUFS6 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFS6
Prepair 1000+ v1.3 NDUFS4 Seb Lunke Added phenotypes Leigh syndrome, 256000 (3) for gene: NDUFS4
Prepair 1000+ v1.3 NDUFAF5 Seb Lunke Added phenotypes Mitochondrial complex 1 deficiency, 252010 (3) for gene: NDUFAF5
Prepair 1000+ v1.3 NDUFAF2 Seb Lunke Added phenotypes Leigh syndrome, 256000 (3) for gene: NDUFAF2
Prepair 1000+ v1.3 NDRG1 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 (3) for gene: NDRG1
Prepair 1000+ v1.3 NDP Seb Lunke Added phenotypes Norrie disease, 310600 (3) for gene: NDP
Prepair 1000+ v1.3 NDE1 Seb Lunke Added phenotypes Lissencephaly 4 (with microcephaly), 614019 (3) for gene: NDE1
Prepair 1000+ v1.3 NCF2 Seb Lunke Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) for gene: NCF2
Prepair 1000+ v1.3 NBN Seb Lunke Added phenotypes Nijmegen breakage syndrome, 251260 (3) for gene: NBN
Prepair 1000+ v1.3 NARS2 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 24, 616239 (3) for gene: NARS2
Prepair 1000+ v1.3 NALCN Seb Lunke Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) for gene: NALCN
Prepair 1000+ v1.3 NAGS Seb Lunke Added phenotypes N-acetylglutamate synthase deficiency, 237310 (3) for gene: NAGS
Prepair 1000+ v1.3 NAGLU Seb Lunke Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) for gene: NAGLU
Prepair 1000+ v1.3 NAGA Seb Lunke Added phenotypes Schindler disease, type I, 609241 (3) for gene: NAGA
Prepair 1000+ v1.3 MYO7A Seb Lunke Added phenotypes Usher syndrome, type 1B, 276900 (3) for gene: MYO7A
Prepair 1000+ v1.3 MYO5B Seb Lunke Added phenotypes Microvillus inclusion disease, 251850 (3) for gene: MYO5B
Prepair 1000+ v1.3 MVK Seb Lunke Added phenotypes Mevalonic aciduria, 610377 (3) for gene: MVK
Prepair 1000+ v1.3 MUT Seb Lunke Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 (3) for gene: MUT
Prepair 1000+ v1.3 MUSK Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) for gene: MUSK
Prepair 1000+ v1.3 MTTP Seb Lunke Added phenotypes Abetalipoproteinemia, 200100 (3) for gene: MTTP
Prepair 1000+ v1.3 MTRR Seb Lunke Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) for gene: MTRR
Prepair 1000+ v1.3 MTR Seb Lunke Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) for gene: MTR
Prepair 1000+ v1.3 MTMR2 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 (3) for gene: MTMR2
Prepair 1000+ v1.3 MTM1 Seb Lunke Added phenotypes Myotubular myopathy, X-linked, 310400 (3) for gene: MTM1
Prepair 1000+ v1.3 MTHFR Seb Lunke Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 (3) for gene: MTHFR
Prepair 1000+ v1.3 MTFMT Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947 (3) for gene: MTFMT
Prepair 1000+ v1.3 MRE11 Seb Lunke Added phenotypes Ataxia-telangiectasia-like disorder, 604391 (3) for gene: MRE11
Prepair 1000+ v1.3 MPV17 Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) for gene: MPV17
Prepair 1000+ v1.3 MPL Seb Lunke Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3) for gene: MPL
Prepair 1000+ v1.3 MPI Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 (3) for gene: MPI
Prepair 1000+ v1.3 MOCS2 Seb Lunke Added phenotypes Molybdenum cofactor deficiency B, 252160 (3) for gene: MOCS2
Prepair 1000+ v1.3 MOCS1 Seb Lunke Added phenotypes Molybdenum cofactor deficiency A, 252150 (3) for gene: MOCS1
Prepair 1000+ v1.3 MMADHC Seb Lunke Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) for gene: MMADHC
Prepair 1000+ v1.3 MMACHC Seb Lunke Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) for gene: MMACHC
Prepair 1000+ v1.3 MMAB Seb Lunke Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) for gene: MMAB
Prepair 1000+ v1.3 MMAA Seb Lunke Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) for gene: MMAA
Prepair 1000+ v1.3 MLYCD Seb Lunke Added phenotypes Malonyl-CoA decarboxylase deficiency, 248360 (3) for gene: MLYCD
Prepair 1000+ v1.3 MLC1 Seb Lunke Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) for gene: MLC1
Prepair 1000+ v1.3 MKS1 Seb Lunke Added phenotypes Meckel syndrome 1, 249000 (3) for gene: MKS1
Prepair 1000+ v1.3 MKKS Seb Lunke Added phenotypes McKusick-Kaufman syndrome, 236700 (3) for gene: MKKS
Prepair 1000+ v1.3 MID1 Seb Lunke Added phenotypes Opitz GBBB syndrome, type I, 300000 (3) for gene: MID1
Prepair 1000+ v1.3 MFSD8 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951 (3) for gene: MFSD8
Prepair 1000+ v1.3 MFN2 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive for gene: MFN2
Prepair 1000+ v1.3 METTL23 Seb Lunke Added phenotypes Mental retardation, autosomal recessive 44, 615942 (3) for gene: METTL23
Prepair 1000+ v1.3 MESP2 Seb Lunke Added phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) for gene: MESP2
Prepair 1000+ v1.3 MED17 Seb Lunke Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) for gene: MED17
Prepair 1000+ v1.3 MED12 Seb Lunke Added phenotypes Lujan-Fryns syndrome, 309520 (3) for gene: MED12
Prepair 1000+ v1.3 MECP2 Seb Lunke Added phenotypes Encephalopathy, neonatal severe, 300673 (3) for gene: MECP2
Prepair 1000+ v1.3 MCPH1 Seb Lunke Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 (3) for gene: MCPH1
Prepair 1000+ v1.3 MCOLN1 Seb Lunke Added phenotypes Mucolipidosis IV, 252650 (3) for gene: MCOLN1
Prepair 1000+ v1.3 MASP1 Seb Lunke Added phenotypes 3MC syndrome 1, 257920 (3) for gene: MASP1
Prepair 1000+ v1.3 MANBA Seb Lunke Added phenotypes Mannosidosis, beta, 248510 (3) for gene: MANBA
Prepair 1000+ v1.3 MAN2B1 Seb Lunke Added phenotypes Mannosidosis, alpha-, types I and II, 248500 (3) for gene: MAN2B1
Prepair 1000+ v1.3 LZTFL1 Seb Lunke Added phenotypes Bardet-Biedl syndrome 17, 615994 (3) for gene: LZTFL1
Prepair 1000+ v1.3 LYST Seb Lunke Added phenotypes Chediak-Higashi syndrome, 214500 (3) for gene: LYST
Prepair 1000+ v1.3 LRPPRC Seb Lunke Added phenotypes Leigh syndrome, French-Canadian type, 220111 (3) for gene: LRPPRC
Prepair 1000+ v1.3 LRP2 Seb Lunke Added phenotypes Donnai-Barrow syndrome, 222448 (3) for gene: LRP2
Prepair 1000+ v1.3 LRAT Seb Lunke Added phenotypes Leber congenital amaurosis 14, 613341 (3) for gene: LRAT
Prepair 1000+ v1.3 LPL Seb Lunke Added phenotypes Lipoprotein lipase deficiency, 238600 (3) for gene: LPL
Prepair 1000+ v1.3 LMNA Seb Lunke Added phenotypes Restrictive dermopathy, lethal, 275210 (3) for gene: LMNA
Publications for gene LMNA were updated from 18551513; 15148145; 17377071 to 15148145; 18551513; 17377071
Prepair 1000+ v1.3 LMBRD1 Seb Lunke Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) for gene: LMBRD1
Prepair 1000+ v1.3 LIPA Seb Lunke Added phenotypes Cholesteryl ester storage disease, 278000 (3) for gene: LIPA
Prepair 1000+ v1.3 LIG4 Seb Lunke Added phenotypes LIG4 syndrome, 606593 (3) for gene: LIG4
Prepair 1000+ v1.3 LIFR Seb Lunke Added phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) for gene: LIFR
Prepair 1000+ v1.3 LHX3 Seb Lunke Added phenotypes Pituitary hormone deficiency, combined, 3, 221750 (3) for gene: LHX3
Prepair 1000+ v1.3 LDLRAP1 Seb Lunke Added phenotypes Hypercholesterolemia, familial, autosomal recessive, 603813 (3) for gene: LDLRAP1
Prepair 1000+ v1.3 LDLR Seb Lunke Added phenotypes LDL cholesterol level QTL2/Hypercholesterolemia, familial for gene: LDLR
Prepair 1000+ v1.3 LCA5 Seb Lunke Added phenotypes Leber congenital amaurosis 5, 604537 (3) for gene: LCA5
Prepair 1000+ v1.3 LARS Seb Lunke Added phenotypes Infantile liver failure syndrome 1, MIM# 615438 for gene: LARS
Prepair 1000+ v1.3 LARGE1 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) for gene: LARGE1
Prepair 1000+ v1.3 LAMC2 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMC2
Prepair 1000+ v1.3 LAMB3 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMB3
Prepair 1000+ v1.3 LAMB2 Seb Lunke Added phenotypes Pierson syndrome, 609049 (3) for gene: LAMB2
Prepair 1000+ v1.3 LAMB1 Seb Lunke Added phenotypes Lissencephaly 5, 615191 (3) for gene: LAMB1
Prepair 1000+ v1.3 LAMA3 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMA3
Prepair 1000+ v1.3 LAMA2 Seb Lunke Added phenotypes Muscular dystrophy, congenital merosin-deficient, 607855 (3) for gene: LAMA2
Prepair 1000+ v1.3 L2HGDH Seb Lunke Added phenotypes L-2-hydroxyglutaric aciduria, 236792 (3) for gene: L2HGDH
Prepair 1000+ v1.3 L1CAM Seb Lunke Added phenotypes MASA syndrome, 303350 (3) for gene: L1CAM
Prepair 1000+ v1.3 KRT14 Seb Lunke Added phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3) for gene: KRT14
Prepair 1000+ v1.3 KIF7 Seb Lunke Added phenotypes Hydrolethalus syndrome 2, 614120 (3) for gene: KIF7
Prepair 1000+ v1.3 KIF1A Seb Lunke Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 (3) for gene: KIF1A
Prepair 1000+ v1.3 KDM5C Seb Lunke Added phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) for gene: KDM5C
Prepair 1000+ v1.3 KCNQ1 Seb Lunke Added phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3) for gene: KCNQ1
Publications for gene KCNQ1 were updated from 29033053; 28438721 to 29033053; 28438721
Prepair 1000+ v1.3 KCNJ11 Seb Lunke Added phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) for gene: KCNJ11
Prepair 1000+ v1.3 KCNJ1 Seb Lunke Added phenotypes Bartter syndrome, type 2, 241200 (3) for gene: KCNJ1
Prepair 1000+ v1.3 KATNB1 Seb Lunke Added phenotypes Lissencephaly 6, with microcephaly, 616212 (3) for gene: KATNB1
Prepair 1000+ v1.3 JAK3 Seb Lunke Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) for gene: JAK3
Prepair 1000+ v1.3 IVD Seb Lunke Added phenotypes Isovaleric acidemia, 243500 (3) for gene: IVD
Prepair 1000+ v1.3 ITPR1 Seb Lunke Added phenotypes Gillespie syndrome, 206700 (3), Autosomal recessive for gene: ITPR1
Prepair 1000+ v1.3 ITGB4 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) for gene: ITGB4
Prepair 1000+ v1.3 ITGA6 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) for gene: ITGA6
Publications for gene ITGA6 were updated from 31502654; 27607025; 9158140; 34525201; 20301336 to 9158140; 20301336; 27607025; 34525201; 31502654
Prepair 1000+ v1.3 IQSEC2 Seb Lunke Added phenotypes Mental retardation, X-linked 1, 309530 (3) for gene: IQSEC2
Prepair 1000+ v1.3 INVS Seb Lunke Added phenotypes Nephronophthisis 2, infantile, 602088 (3) for gene: INVS
Prepair 1000+ v1.3 INPP5E Seb Lunke Added phenotypes Joubert syndrome 1, 213300 (3) for gene: INPP5E
Prepair 1000+ v1.3 IL7R Seb Lunke Added phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) for gene: IL7R
Prepair 1000+ v1.3 IL2RG Seb Lunke Added phenotypes Severe combined immunodeficiency, X-linked, 300400 (3) for gene: IL2RG
Prepair 1000+ v1.3 IL1RAPL1 Seb Lunke Added phenotypes Mental retardation, X-linked 21/34, 300143 (3) for gene: IL1RAPL1
Prepair 1000+ v1.3 IKBKB Seb Lunke Added phenotypes Immunodeficiency 15, 615592 (3) for gene: IKBKB
Prepair 1000+ v1.3 IGHMBP2 Seb Lunke Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 (3) for gene: IGHMBP2
Prepair 1000+ v1.3 IDUA Seb Lunke Added phenotypes Mucopolysaccharidosis Ih, 607014 (3) for gene: IDUA
Prepair 1000+ v1.3 IDS Seb Lunke Added phenotypes Mucopolysaccharidosis II, 309900 (3) for gene: IDS
Prepair 1000+ v1.3 HYLS1 Seb Lunke Added phenotypes Hydrolethalus syndrome, 236680 (3) for gene: HYLS1
Prepair 1000+ v1.3 HUWE1 Seb Lunke Added phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 (3) for gene: HUWE1
Prepair 1000+ v1.3 HSD3B2 Seb Lunke Added phenotypes 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) for gene: HSD3B2
Prepair 1000+ v1.3 HSD17B4 Seb Lunke Added phenotypes D-bifunctional protein deficiency, 261515 (3) for gene: HSD17B4
Prepair 1000+ v1.3 HSD17B10 Seb Lunke Added phenotypes HSD10 mitochondrial disease for gene: HSD17B10
Prepair 1000+ v1.3 HPS6 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 6, 614075 (3) for gene: HPS6
Prepair 1000+ v1.3 HPS5 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 5, 614074 (3) for gene: HPS5
Prepair 1000+ v1.3 HPS4 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 4, 614073 (3) for gene: HPS4
Prepair 1000+ v1.3 HPS3 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 3, 614072 (3) for gene: HPS3
Prepair 1000+ v1.3 HPS1 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 1, 203300 (3) for gene: HPS1
Prepair 1000+ v1.3 HPRT1 Seb Lunke Added phenotypes Lesch-Nyhan syndrome, 300322 (3) for gene: HPRT1
Prepair 1000+ v1.3 HPD Seb Lunke Added phenotypes Tyrosinemia, type III, 276710 (3) for gene: HPD
Prepair 1000+ v1.3 HMGCS2 Seb Lunke Added phenotypes HMG-CoA synthase-2 deficiency, 605911 (3) for gene: HMGCS2
Prepair 1000+ v1.3 HMGCL Seb Lunke Added phenotypes HMG-CoA lyase deficiency, 246450 (3) for gene: HMGCL
Prepair 1000+ v1.3 HLCS Seb Lunke Added phenotypes Holocarboxylase synthetase deficiency, 253270 (3) for gene: HLCS
Prepair 1000+ v1.3 HIBCH Seb Lunke Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) for gene: HIBCH
Prepair 1000+ v1.3 HGSNAT Seb Lunke Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) for gene: HGSNAT
Prepair 1000+ v1.3 HFE2 Seb Lunke Added phenotypes Hemochromatosis, type 2A, 602390 (3) for gene: HFE2
Prepair 1000+ v1.3 HEXB Seb Lunke Added phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) for gene: HEXB
Prepair 1000+ v1.3 HEXA Seb Lunke Added phenotypes Tay-Sachs disease, 272800 (3) for gene: HEXA
Prepair 1000+ v1.3 HCFC1 Seb Lunke Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) for gene: HCFC1
Prepair 1000+ v1.3 HBB Seb Lunke Added phenotypes Thalassemias, beta-, 613985 (3) for gene: HBB
Prepair 1000+ v1.3 HAX1 Seb Lunke Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) for gene: HAX1
Prepair 1000+ v1.3 HAMP Seb Lunke Added phenotypes Hemochromatosis, type 2B, 613313 (3) for gene: HAMP
Prepair 1000+ v1.3 HADHB Seb Lunke Added phenotypes Trifunctional protein deficiency, 609015 (3) for gene: HADHB
Prepair 1000+ v1.3 HADHA Seb Lunke Added phenotypes Fatty liver, acute, of pregnancy, 609016 (3) for gene: HADHA
Prepair 1000+ v1.3 HADH Seb Lunke Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) for gene: HADH
Prepair 1000+ v1.3 GUSB Seb Lunke Added phenotypes Mucopolysaccharidosis VII, 253220 (3) for gene: GUSB
Prepair 1000+ v1.3 GUCY2D Seb Lunke Added phenotypes Leber congenital amaurosis 1, 204000 (3) for gene: GUCY2D
Prepair 1000+ v1.3 GSS Seb Lunke Added phenotypes Glutathione synthetase deficiency, 266130 (3) for gene: GSS
Prepair 1000+ v1.3 GPSM2 Seb Lunke Added phenotypes Chudley-McCullough syndrome, 604213 (3) for gene: GPSM2
Prepair 1000+ v1.3 GPR143 Seb Lunke Added phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 (3) for gene: GPR143
Prepair 1000+ v1.3 GPC3 Seb Lunke Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) for gene: GPC3
Prepair 1000+ v1.3 GORAB Seb Lunke Added phenotypes Geroderma osteodysplasticum, 231070 (3) for gene: GORAB
Prepair 1000+ v1.3 GNS Seb Lunke Added phenotypes Mucopolysaccharidosis type IIID, 252940 (3) for gene: GNS
Prepair 1000+ v1.3 GNPTG Seb Lunke Added phenotypes Mucolipidosis III gamma, 252605 (3) for gene: GNPTG
Prepair 1000+ v1.3 GNPTAB Seb Lunke Added phenotypes Mucolipidosis III alpha/beta, 252600 (3) for gene: GNPTAB
Prepair 1000+ v1.3 GNPAT Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) for gene: GNPAT
Prepair 1000+ v1.3 GNE Seb Lunke Added phenotypes Inclusion body myopathy, autosomal recessive, 600737 (3) for gene: GNE
Prepair 1000+ v1.3 GNB5 Seb Lunke Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive for gene: GNB5
Prepair 1000+ v1.3 GLE1 Seb Lunke Added phenotypes Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) for gene: GLE1
Prepair 1000+ v1.3 GLDC Seb Lunke Added phenotypes Glycine encephalopathy, 605899 (3) for gene: GLDC
Prepair 1000+ v1.3 GLB1 Seb Lunke Added phenotypes Mucopolysaccharidosis type IVB (Morquio), 253010 (3) for gene: GLB1
Prepair 1000+ v1.3 GLA Seb Lunke Added phenotypes Fabry disease, MIM#301500 for gene: GLA
Prepair 1000+ v1.3 GJB1 Seb Lunke Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800) for gene: GJB1
Prepair 1000+ v1.3 GHR Seb Lunke Added phenotypes Laron dwarfism, 262500 (3) for gene: GHR
Prepair 1000+ v1.3 GFM1 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 (3) for gene: GFM1
Prepair 1000+ v1.3 GDF5 Seb Lunke Added phenotypes Chondrodysplasia, Grebe type, 200700 (3) for gene: GDF5
Prepair 1000+ v1.3 GDF1 Seb Lunke Added phenotypes Right atrial isomerism, 208530 (3) for gene: GDF1
Prepair 1000+ v1.3 GDAP1 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) for gene: GDAP1
Prepair 1000+ v1.3 GCH1 Seb Lunke Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) for gene: GCH1
Prepair 1000+ v1.3 GCDH Seb Lunke Added phenotypes Glutaricaciduria, type I, 231670 (3) for gene: GCDH
Prepair 1000+ v1.3 GBE1 Seb Lunke Added phenotypes Glycogen storage disease IV, 232500 (3) for gene: GBE1
Prepair 1000+ v1.3 GATM Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 3, 612718 (3) for gene: GATM
Prepair 1000+ v1.3 GAMT Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 (3) for gene: GAMT
Prepair 1000+ v1.3 GALT Seb Lunke Added phenotypes Galactosemia, 230400 (3) for gene: GALT
Prepair 1000+ v1.3 GALNS Seb Lunke Added phenotypes Mucopolysaccharidosis IVA, 253000 (3) for gene: GALNS
Prepair 1000+ v1.3 GALC Seb Lunke Added phenotypes Krabbe disease, 245200 (3) for gene: GALC
Prepair 1000+ v1.3 GAA Seb Lunke Added phenotypes Glycogen storage disease II, 232300 (3) for gene: GAA
Prepair 1000+ v1.3 G6PC3 Seb Lunke Added phenotypes Dursun syndrome, 612541 (3) for gene: G6PC3
Prepair 1000+ v1.3 G6PC Seb Lunke Added phenotypes Glycogen storage disease Ia, 232200 (3) for gene: G6PC
Prepair 1000+ v1.3 FUCA1 Seb Lunke Added phenotypes Fucosidosis, 230000 (3) for gene: FUCA1
Prepair 1000+ v1.3 FTSJ1 Seb Lunke Added phenotypes Mental retardation, X-linked 9, 309549 (3) for gene: FTSJ1
Prepair 1000+ v1.3 FREM2 Seb Lunke Added phenotypes Fraser syndrome, 219000 (3) for gene: FREM2
Prepair 1000+ v1.3 FRAS1 Seb Lunke Added phenotypes Fraser syndrome, 219000 (3) for gene: FRAS1
Prepair 1000+ v1.3 FOXRED1 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: FOXRED1
Prepair 1000+ v1.3 FOXN1 Seb Lunke Added phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) for gene: FOXN1
Prepair 1000+ v1.3 FMR1 Seb Lunke Added phenotypes Fragile X syndrome for gene: FMR1
Prepair 1000+ v1.3 FLNA Seb Lunke Added phenotypes FG syndrome 2, 300321 (3) for gene: FLNA
Prepair 1000+ v1.3 FKTN Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) for gene: FKTN
Prepair 1000+ v1.3 FKRP Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) for gene: FKRP
Prepair 1000+ v1.3 FKBP10 Seb Lunke Added phenotypes Bruck syndrome 1, 259450 (3) for gene: FKBP10
Prepair 1000+ v1.3 FHL1 Seb Lunke Added phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) for gene: FHL1
Prepair 1000+ v1.3 FH Seb Lunke Added phenotypes Fumarase deficiency, 606812 (3) for gene: FH
Prepair 1000+ v1.3 FBXO7 Seb Lunke Added phenotypes Parkinson disease 15, autosomal recessive, 260300 (3) for gene: FBXO7
Prepair 1000+ v1.3 FBP1 Seb Lunke Added phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 (3) for gene: FBP1
Prepair 1000+ v1.3 FAT4 Seb Lunke Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) for gene: FAT4
Prepair 1000+ v1.3 FANCL Seb Lunke Added phenotypes Fanconi anemia, complementation group L, 614083 (3) for gene: FANCL
Prepair 1000+ v1.3 FANCI Seb Lunke Added phenotypes Fanconi anemia, complementation group I, 609053 (3) for gene: FANCI
Prepair 1000+ v1.3 FANCG Seb Lunke Added phenotypes Fanconi anemia, complementation group G, 614082 (3) for gene: FANCG
Prepair 1000+ v1.3 FANCF Seb Lunke Added phenotypes Fanconi anemia, complementation group F, 603467 (3) for gene: FANCF
Prepair 1000+ v1.3 FANCE Seb Lunke Added phenotypes Fanconi anemia, complementation group E, 600901 (3) for gene: FANCE
Prepair 1000+ v1.3 FANCD2 Seb Lunke Added phenotypes Fanconi anemia, complementation group D2, 227646 (3) for gene: FANCD2
Prepair 1000+ v1.3 FANCC Seb Lunke Added phenotypes Fanconi anemia, complementation group C, 227645 (3) for gene: FANCC
Prepair 1000+ v1.3 FANCB Seb Lunke Added phenotypes Fanconi anemia, complementation group B, 300514 (3) for gene: FANCB
Prepair 1000+ v1.3 FANCA Seb Lunke Added phenotypes Fanconi anemia, complementation group A, 227650 (3) for gene: FANCA
Prepair 1000+ v1.3 FAM126A Seb Lunke Added phenotypes Leukodystrophy, hypomyelinating, 5, 610532 (3) for gene: FAM126A
Prepair 1000+ v1.3 FAH Seb Lunke Added phenotypes Tyrosinemia, type I, 276700 (3) for gene: FAH
Prepair 1000+ v1.3 F2 Seb Lunke Added phenotypes Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679) for gene: F2
Prepair 1000+ v1.3 EXOSC8 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 1C, 616081 (3) for gene: EXOSC8
Prepair 1000+ v1.3 EXOSC3 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 1B, 614678 (3) for gene: EXOSC3
Prepair 1000+ v1.3 EVC2 Seb Lunke Added phenotypes Ellis-van Creveld syndrome, 225500 (3) for gene: EVC2
Prepair 1000+ v1.3 EVC Seb Lunke Added phenotypes Ellis-van Creveld syndrome, 225500 (3) for gene: EVC
Prepair 1000+ v1.3 ETHE1 Seb Lunke Added phenotypes Ethylmalonic encephalopathy, 602473 (3) for gene: ETHE1
Prepair 1000+ v1.3 ETFDH Seb Lunke Added phenotypes Glutaric acidemia IIC, 231680 (3) for gene: ETFDH
Prepair 1000+ v1.3 ETFB Seb Lunke Added phenotypes Glutaric acidemia IIB, 231680 (3) for gene: ETFB
Prepair 1000+ v1.3 ETFA Seb Lunke Added phenotypes Glutaric acidemia IIA, 231680 (3) for gene: ETFA
Prepair 1000+ v1.3 ESCO2 Seb Lunke Added phenotypes SC phocomelia syndrome, 269000 (3) for gene: ESCO2
Prepair 1000+ v1.3 ERCC8 Seb Lunke Added phenotypes Cockayne syndrome, type A, 216400 (3) for gene: ERCC8
Prepair 1000+ v1.3 ERCC6 Seb Lunke Added phenotypes Cockayne syndrome, type B, 133540 (3) for gene: ERCC6
Prepair 1000+ v1.3 ERCC5 Seb Lunke Added phenotypes Xeroderma pigmentosum, group G, 278780 (3) for gene: ERCC5
Prepair 1000+ v1.3 ERCC4 Seb Lunke Added phenotypes Fanconi anemia, complementation group Q, 615272 (3) for gene: ERCC4
Prepair 1000+ v1.3 ERCC2 Seb Lunke Added phenotypes Cerebrooculofacioskeletal syndrome 2, 610756 (3) for gene: ERCC2
Prepair 1000+ v1.3 EPG5 Seb Lunke Added phenotypes Vici syndrome, 242840 (3) for gene: EPG5
Prepair 1000+ v1.3 ENPP1 Seb Lunke Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) for gene: ENPP1
Prepair 1000+ v1.3 EMD Seb Lunke Added phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) for gene: EMD
Prepair 1000+ v1.3 ELP1 Seb Lunke Added phenotypes Dysautonomia, familial, 223900 (3) for gene: ELP1
Prepair 1000+ v1.3 EIF2B5 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B5
Prepair 1000+ v1.3 EIF2B4 Seb Lunke Added phenotypes Leukoencephaly with vanishing white matter, 603896 (3) for gene: EIF2B4
Prepair 1000+ v1.3 EIF2B3 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B3
Prepair 1000+ v1.3 EIF2B2 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B2
Prepair 1000+ v1.3 EIF2B1 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B1
Prepair 1000+ v1.3 EIF2AK3 Seb Lunke Added phenotypes Wolcott-Rallison syndrome, 226980 (3) for gene: EIF2AK3
Prepair 1000+ v1.3 EDA Seb Lunke Added phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) for gene: EDA
Prepair 1000+ v1.3 ECHS1 Seb Lunke Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3) for gene: ECHS1
Prepair 1000+ v1.3 DYSF Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601 (3) for gene: DYSF
Prepair 1000+ v1.3 DYNC2H1 Seb Lunke Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) for gene: DYNC2H1
Prepair 1000+ v1.3 DYM Seb Lunke Added phenotypes Dyggve-Melchior-Clausen disease, 223800 (3) for gene: DYM
Prepair 1000+ v1.3 DOK7 Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 10, 254300 (3) for gene: DOK7
Prepair 1000+ v1.3 DOCK6 Seb Lunke Added phenotypes Adams-Oliver syndrome 2, 614219 (3) for gene: DOCK6
Prepair 1000+ v1.3 DNMT3B Seb Lunke Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3) for gene: DNMT3B
Prepair 1000+ v1.3 DNAI2 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) for gene: DNAI2
Prepair 1000+ v1.3 DNAI1 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) for gene: DNAI1
Prepair 1000+ v1.3 DNAH5 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) for gene: DNAH5
Prepair 1000+ v1.3 DNAH11 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) for gene: DNAH11
Prepair 1000+ v1.3 DMD Seb Lunke Added phenotypes Duchenne muscular dystrophy, 310200 (3) for gene: DMD
Prepair 1000+ v1.3 DLL3 Seb Lunke Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) for gene: DLL3
Prepair 1000+ v1.3 DLG3 Seb Lunke Added phenotypes Mental retardation, X-linked 90, 300850 (3) for gene: DLG3
Prepair 1000+ v1.3 DLD Seb Lunke Added phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 (3) for gene: DLD
Prepair 1000+ v1.3 DKC1 Seb Lunke Added phenotypes Dyskeratosis congenita, X-linked, 305000 (3) for gene: DKC1
Prepair 1000+ v1.3 DIS3L2 Seb Lunke Added phenotypes Perlman syndrome, 267000 (3) for gene: DIS3L2
Prepair 1000+ v1.3 DHDDS Seb Lunke Added phenotypes Retinitis pigmentosa 59, 613861 (3) for gene: DHDDS
Prepair 1000+ v1.3 DHCR7 Seb Lunke Added phenotypes Smith-Lemli-Opitz syndrome, 270400 (3) for gene: DHCR7
Prepair 1000+ v1.3 DHCR24 Seb Lunke Added phenotypes Desmosterolosis, 602398 (3) for gene: DHCR24
Prepair 1000+ v1.3 DGUOK Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) for gene: DGUOK
Prepair 1000+ v1.3 DGAT1 Seb Lunke Added phenotypes ?Diarrhea 7, protein-losing enteropathy type for gene: DGAT1
Prepair 1000+ v1.3 DDX11 Seb Lunke Added phenotypes Warsaw breakage syndrome, 613398 (3) for gene: DDX11
Prepair 1000+ v1.3 DDC Seb Lunke Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 (3) for gene: DDC
Prepair 1000+ v1.3 DCX Seb Lunke Added phenotypes Lissencephaly, X-linked, 300067 (3) for gene: DCX
Prepair 1000+ v1.3 DCLRE1C Seb Lunke Added phenotypes Severe combined immunodeficiency, Athabascan type, 602450 (3) for gene: DCLRE1C
Prepair 1000+ v1.3 DCAF17 Seb Lunke Added phenotypes Woodhouse-Sakati syndrome, 241080 (3) for gene: DCAF17
Prepair 1000+ v1.3 DBT Seb Lunke Added phenotypes Maple syrup urine disease, type II, 248600 (3) for gene: DBT
Prepair 1000+ v1.3 D2HGDH Seb Lunke Added phenotypes D-2-hydroxyglutaric aciduria, 600721 (3) for gene: D2HGDH
Prepair 1000+ v1.3 CYP7B1 Seb Lunke Added phenotypes Bile acid synthesis defect, congenital, 3, 613812 (3) for gene: CYP7B1
Prepair 1000+ v1.3 CYP27A1 Seb Lunke Added phenotypes Cerebrotendinous xanthomatosis, 213700 (3) for gene: CYP27A1
Prepair 1000+ v1.3 CYP1B1 Seb Lunke Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) for gene: CYP1B1
Prepair 1000+ v1.3 CYP17A1 Seb Lunke Added phenotypes 17,20-lyase deficiency, isolated, 202110 (3) for gene: CYP17A1
Prepair 1000+ v1.3 CYP11B2 Seb Lunke Added phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) for gene: CYP11B2
Prepair 1000+ v1.3 CYP11A1 Seb Lunke Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) for gene: CYP11A1
Prepair 1000+ v1.3 CYBB Seb Lunke Added phenotypes Chronic granulomatous disease, X-linked, 306400 (3) for gene: CYBB
Prepair 1000+ v1.3 CYBA Seb Lunke Added phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) for gene: CYBA
Prepair 1000+ v1.3 CUL4B Seb Lunke Added phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) for gene: CUL4B
Prepair 1000+ v1.3 CTSK Seb Lunke Added phenotypes Pycnodysostosis, 265800 (3) for gene: CTSK
Prepair 1000+ v1.3 CTSD Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 (3) for gene: CTSD
Prepair 1000+ v1.3 CTSC Seb Lunke Added phenotypes Papillon-Lefevre syndrome, 245000 (3) for gene: CTSC
Prepair 1000+ v1.3 CTSA Seb Lunke Added phenotypes Galactosialidosis, 256540 (3) for gene: CTSA
Prepair 1000+ v1.3 CTNS Seb Lunke Added phenotypes Cystinosis, nephropathic, 219800 (3) for gene: CTNS
Prepair 1000+ v1.3 CSPP1 Seb Lunke Added phenotypes Joubert syndrome 21, 615636 (3) for gene: CSPP1
Prepair 1000+ v1.3 CRTAP Seb Lunke Added phenotypes Osteogenesis imperfecta, type VII, 610682 (3) for gene: CRTAP
Prepair 1000+ v1.3 CRB1 Seb Lunke Added phenotypes Leber congenital amaurosis 8, 613835 (3) for gene: CRB1
Prepair 1000+ v1.3 CPT2 Seb Lunke Added phenotypes CPT II deficiency, lethal neonatal, 608836 (3) for gene: CPT2
Prepair 1000+ v1.3 CPT1A Seb Lunke Added phenotypes CPT deficiency, hepatic, type IA, 255120 (3) for gene: CPT1A
Prepair 1000+ v1.3 CPS1 Seb Lunke Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 (3) for gene: CPS1
Prepair 1000+ v1.3 COX15 Seb Lunke Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) for gene: COX15
Prepair 1000+ v1.3 COLQ Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 5, 603034 (3) for gene: COLQ
Prepair 1000+ v1.3 COLEC11 Seb Lunke Added phenotypes 3MC syndrome 2, 265050 (3) for gene: COLEC11
Prepair 1000+ v1.3 COL7A1 Seb Lunke Added phenotypes Epidermolysis bullosa dystrophica, AR, 226600 (3) for gene: COL7A1
Prepair 1000+ v1.3 COL6A1 Seb Lunke Added phenotypes Ullrich congenital muscular dystrophy 1, 254090 (3) for gene: COL6A1
Prepair 1000+ v1.3 COL4A5 Seb Lunke Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5
Prepair 1000+ v1.3 COL4A4 Seb Lunke Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A4
Prepair 1000+ v1.3 COL4A3 Seb Lunke Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A3
Prepair 1000+ v1.3 COL27A1 Seb Lunke Added phenotypes Steel Syndrome for gene: COL27A1
Prepair 1000+ v1.3 COL18A1 Seb Lunke Added phenotypes Knobloch syndrome, type 1, 267750 (3) for gene: COL18A1
Prepair 1000+ v1.3 COL17A1 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) for gene: COL17A1
Prepair 1000+ v1.3 COL11A2 Seb Lunke Added phenotypes Fibrochondrogenesis 2, 614524 (3) for gene: COL11A2
Prepair 1000+ v1.3 CNGB3 Seb Lunke Added phenotypes Macular degeneration, juvenile, 248200 (3) for gene: CNGB3
Prepair 1000+ v1.3 CLRN1 Seb Lunke Added phenotypes Usher syndrome, type 3A, 276902 (3) for gene: CLRN1
Prepair 1000+ v1.3 CLPB Seb Lunke Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) for gene: CLPB
Prepair 1000+ v1.3 CLP1 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 10, 615803 (3) for gene: CLP1
Prepair 1000+ v1.3 CLN8 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 (3) for gene: CLN8
Prepair 1000+ v1.3 CLN6 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal 6, 601780 (3) for gene: CLN6
Prepair 1000+ v1.3 CLN5 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 (3) for gene: CLN5
Prepair 1000+ v1.3 CLN3 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 (3) for gene: CLN3
Prepair 1000+ v1.3 CLCN7 Seb Lunke Added phenotypes Osteopetrosis, autosomal recessive 4, 611490 (3) for gene: CLCN7
Prepair 1000+ v1.3 CLCN5 Seb Lunke Added phenotypes Dent disease, 300009 (3) for gene: CLCN5
Prepair 1000+ v1.3 CKAP2L Seb Lunke Added phenotypes Filippi syndrome, 272440 (3) for gene: CKAP2L
Prepair 1000+ v1.3 CIITA Seb Lunke Added phenotypes Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) for gene: CIITA
Prepair 1000+ v1.3 CHRNG Seb Lunke Added phenotypes Escobar syndrome, 265000 (3) for gene: CHRNG
Prepair 1000+ v1.3 CHRNE Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) for gene: CHRNE
Prepair 1000+ v1.3 CHAT Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) for gene: CHAT
Prepair 1000+ v1.3 CFTR Seb Lunke Added phenotypes Cystic fibrosis, 219700 (3) for gene: CFTR
Prepair 1000+ v1.3 CEP41 Seb Lunke Added phenotypes Joubert syndrome 15, 614464 (3) for gene: CEP41
Prepair 1000+ v1.3 CEP290 Seb Lunke Added phenotypes Joubert syndrome 5, 610188 (3) for gene: CEP290
Prepair 1000+ v1.3 CEP152 Seb Lunke Added phenotypes Seckel syndrome 5, 613823 (3) for gene: CEP152
Prepair 1000+ v1.3 CENPJ Seb Lunke Added phenotypes Microcephaly 6, primary, autosomal recessive, 608393 (3) for gene: CENPJ
Prepair 1000+ v1.3 CDH23 Seb Lunke Added phenotypes Usher syndrome, type 1D, 601067 (3) for gene: CDH23
Prepair 1000+ v1.3 CD40LG Seb Lunke Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) for gene: CD40LG
Prepair 1000+ v1.3 CD40 Seb Lunke Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 (3) for gene: CD40
Prepair 1000+ v1.3 CD3D Seb Lunke Added phenotypes Immunodeficiency 19, 615617 (3) for gene: CD3D
Prepair 1000+ v1.3 CCDC88C Seb Lunke Added phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) for gene: CCDC88C
Prepair 1000+ v1.3 CCDC39 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 14, 613807 (3) for gene: CCDC39
Prepair 1000+ v1.3 CCDC103 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 17, 614679 (3) for gene: CCDC103
Prepair 1000+ v1.3 CCBE1 Seb Lunke Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) for gene: CCBE1
Prepair 1000+ v1.3 CC2D2A Seb Lunke Added phenotypes Joubert syndrome 9, 612285 (3) for gene: CC2D2A
Prepair 1000+ v1.3 CC2D1A Seb Lunke Added phenotypes Mental retardation, autosomal recessive 3, 608443 (3) for gene: CC2D1A
Prepair 1000+ v1.3 CASQ2 Seb Lunke Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) for gene: CASQ2
Prepair 1000+ v1.3 CASK Seb Lunke Added phenotypes Mental retardation, with or without nystagmus for gene: CASK
Prepair 1000+ v1.3 CAPN3 Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2A, 253600 (3) for gene: CAPN3
Prepair 1000+ v1.3 CANT1 Seb Lunke Added phenotypes Desbuquois dysplasia, 251450 (3) for gene: CANT1
Prepair 1000+ v1.3 C5orf42 Seb Lunke Added phenotypes Joubert syndrome 17, 614615 (3) for gene: C5orf42
Prepair 1000+ v1.3 BTK Seb Lunke Added phenotypes Agammaglobulinemia and isolated hormone deficiency, 307200 (3) for gene: BTK
Prepair 1000+ v1.3 BSND Seb Lunke Added phenotypes Bartter syndrome, type 4a, 602522 (3) for gene: BSND
Prepair 1000+ v1.3 BRWD3 Seb Lunke Added phenotypes Mental retardation, X-linked 93, 300659 (3) for gene: BRWD3
Prepair 1000+ v1.3 BRAT1 Seb Lunke Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) for gene: BRAT1
Prepair 1000+ v1.3 BLM Seb Lunke Added phenotypes Bloom syndrome, 210900 (3) for gene: BLM
Prepair 1000+ v1.3 BCS1L Seb Lunke Added phenotypes GRACILE syndrome, 603358 (3) for gene: BCS1L
Prepair 1000+ v1.3 BCKDHB Seb Lunke Added phenotypes Maple syrup urine disease, type Ib, 248600 (3) for gene: BCKDHB
Prepair 1000+ v1.3 BCKDHA Seb Lunke Added phenotypes Maple syrup urine disease, type Ia, 248600 (3) for gene: BCKDHA
Prepair 1000+ v1.3 BBS9 Seb Lunke Added phenotypes Bardet-Biedl syndrome 9, 615986 (3) for gene: BBS9
Prepair 1000+ v1.3 BBS7 Seb Lunke Added phenotypes Bardet-Biedl syndrome 7, 615984 (3) for gene: BBS7
Prepair 1000+ v1.3 BBS5 Seb Lunke Added phenotypes Bardet-Biedl syndrome 5, 615983 (3) for gene: BBS5
Prepair 1000+ v1.3 BBS4 Seb Lunke Added phenotypes Bardet-Biedl syndrome 4, 615982 (3) for gene: BBS4
Prepair 1000+ v1.3 BBS2 Seb Lunke Added phenotypes Bardet-Biedl syndrome 2, 615981 (3) for gene: BBS2
Prepair 1000+ v1.3 BBS12 Seb Lunke Added phenotypes Bardet-Biedl syndrome 12, 615989 (3) for gene: BBS12
Prepair 1000+ v1.3 BBS10 Seb Lunke Added phenotypes Bardet-Biedl syndrome 10, 615987 (3) for gene: BBS10
Prepair 1000+ v1.3 BBS1 Seb Lunke Added phenotypes Bardet-Biedl syndrome 1, 209900 (3) for gene: BBS1
Prepair 1000+ v1.3 B3GLCT Seb Lunke Added phenotypes Peters-plus syndrome, 261540 (3) for gene: B3GLCT
Prepair 1000+ v1.3 AUH Seb Lunke Added phenotypes 3-methylglutaconic aciduria, type I, 250950 (3) for gene: AUH
Prepair 1000+ v1.3 ATRX Seb Lunke Added phenotypes Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) for gene: ATRX
Prepair 1000+ v1.3 ATR Seb Lunke Added phenotypes Seckel syndrome 1, 210600 (3) for gene: ATR
Prepair 1000+ v1.3 ATP8B1 Seb Lunke Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 (3) for gene: ATP8B1
Prepair 1000+ v1.3 ATP7B Seb Lunke Added phenotypes Wilson disease, 277900 (3) for gene: ATP7B
Prepair 1000+ v1.3 ATP7A Seb Lunke Added phenotypes Menkes disease, 309400 (3) for gene: ATP7A
Prepair 1000+ v1.3 ATP6V1B1 Seb Lunke Added phenotypes Renal tubular acidosis with deafness, 267300 (3) for gene: ATP6V1B1
Prepair 1000+ v1.3 ATM Seb Lunke Added phenotypes Ataxia-telangiectasia, 208900 (3) for gene: ATM
Prepair 1000+ v1.3 ASS1 Seb Lunke Added phenotypes Citrullinemia, 215700 (3) for gene: ASS1
Prepair 1000+ v1.3 ASPM Seb Lunke Added phenotypes Microcephaly 5, primary, autosomal recessive, 608716 (3) for gene: ASPM
Prepair 1000+ v1.3 ASPA Seb Lunke Added phenotypes Canavan disease, 271900 (3) for gene: ASPA
Prepair 1000+ v1.3 ASNS Seb Lunke Added phenotypes Asparagine synthetase deficiency, 615574 (3) for gene: ASNS
Prepair 1000+ v1.3 ASL Seb Lunke Added phenotypes Argininosuccinic aciduria, 207900 (3) for gene: ASL
Prepair 1000+ v1.3 ARX Seb Lunke Added phenotypes Hydranencephaly with abnormal genitalia, 300215 (3) for gene: ARX
Prepair 1000+ v1.3 ARSB Seb Lunke Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) for gene: ARSB
Prepair 1000+ v1.3 ARSA Seb Lunke Added phenotypes Metachromatic leukodystrophy, 250100 (3) for gene: ARSA
Prepair 1000+ v1.3 ARL6 Seb Lunke Added phenotypes Bardet-Biedl syndrome 3, 600151 (3) for gene: ARL6
Prepair 1000+ v1.3 ARL13B Seb Lunke Added phenotypes Joubert syndrome 8, 612291 (3) for gene: ARL13B
Prepair 1000+ v1.3 ARG1 Seb Lunke Added phenotypes Argininemia, 207800 (3) for gene: ARG1
Prepair 1000+ v1.3 AQP2 Seb Lunke Added phenotypes Diabetes insipidus, nephrogenic, 125800 (3) for gene: AQP2
Prepair 1000+ v1.3 AP1S2 Seb Lunke Added phenotypes Mental retardation, X-linked syndromic 5, 304340 (3) for gene: AP1S2
Prepair 1000+ v1.3 AMT Seb Lunke Added phenotypes Glycine encephalopathy, 605899 (3) for gene: AMT
Prepair 1000+ v1.3 AMPD2 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 9, 615809 (3) for gene: AMPD2
Prepair 1000+ v1.3 ALPL Seb Lunke Added phenotypes Hypophosphatasia, infantile, 241500 (3) for gene: ALPL
Prepair 1000+ v1.3 ALMS1 Seb Lunke Added phenotypes Alstrom syndrome, 203800 (3) for gene: ALMS1
Prepair 1000+ v1.3 ALG6 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ic, 603147 (3) for gene: ALG6
Prepair 1000+ v1.3 ALG3 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Id, 601110 (3) for gene: ALG3
Prepair 1000+ v1.3 ALG1 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 (3) for gene: ALG1
Prepair 1000+ v1.3 ALDOB Seb Lunke Added phenotypes Fructose intolerance, 229600 (3) for gene: ALDOB
Prepair 1000+ v1.3 ALDH7A1 Seb Lunke Added phenotypes Epilepsy, pyridoxine-dependent, 266100 (3) for gene: ALDH7A1
Prepair 1000+ v1.3 ALDH5A1 Seb Lunke Added phenotypes Succinic semialdehyde dehydrogenase deficiency, 271980 (3) for gene: ALDH5A1
Prepair 1000+ v1.3 ALDH3A2 Seb Lunke Added phenotypes Sjogren-Larsson syndrome, 270200 (3) for gene: ALDH3A2
Prepair 1000+ v1.3 ALDH18A1 Seb Lunke Added phenotypes Spastic paraplegia 9B, autosomal recessive, 616586 (3) for gene: ALDH18A1
Prepair 1000+ v1.3 AK2 Seb Lunke Added phenotypes Reticular dysgenesis, 267500 (3) for gene: AK2
Prepair 1000+ v1.3 AIPL1 Seb Lunke Added phenotypes Cone-rod dystrophy, 604393 (3) for gene: AIPL1
Prepair 1000+ v1.3 AIFM1 Seb Lunke Added phenotypes Cowchock syndrome, 310490 (3) for gene: AIFM1
Prepair 1000+ v1.3 AHI1 Seb Lunke Added phenotypes Joubert syndrome-3, 608629 (3) for gene: AHI1
Prepair 1000+ v1.3 AGXT Seb Lunke Added phenotypes Hyperoxaluria, primary, type 1, 259900 (3) for gene: AGXT
Prepair 1000+ v1.3 AGPS Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) for gene: AGPS
Prepair 1000+ v1.3 AGL Seb Lunke Added phenotypes Glycogen storage disease IIIa, 232400 (3) for gene: AGL
Prepair 1000+ v1.3 AGK Seb Lunke Added phenotypes Sengers syndrome, 212350 (3) for gene: AGK
Prepair 1000+ v1.3 AGA Seb Lunke Added phenotypes Aspartylglucosaminuria, 208400 (3) for gene: AGA
Prepair 1000+ v1.3 ADSL Seb Lunke Added phenotypes Adenylosuccinase deficiency, 103050 (3) for gene: ADSL
Prepair 1000+ v1.3 ADGRV1 Seb Lunke Added phenotypes Usher syndrome, type 2C, 605472 (3) for gene: ADGRV1
Prepair 1000+ v1.3 ADGRG1 Seb Lunke Added phenotypes Polymicrogyria, bilateral frontoparietal, 606854 (3) for gene: ADGRG1
Prepair 1000+ v1.3 ADAR Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 6, 615010 (3) for gene: ADAR
Prepair 1000+ v1.3 ADAMTS2 Seb Lunke Added phenotypes Ehlers-Danlos syndrome, type VIIC, 225410 (3) for gene: ADAMTS2
Prepair 1000+ v1.3 ADA Seb Lunke Added phenotypes Adenosine deaminase deficiency, partial, 102700 (3) for gene: ADA
Prepair 1000+ v1.3 ACOX1 Seb Lunke Added phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) for gene: ACOX1
Prepair 1000+ v1.3 ACAT1 Seb Lunke Added phenotypes Alpha-methylacetoacetic aciduria, 203750 (3) for gene: ACAT1
Prepair 1000+ v1.3 ACADVL Seb Lunke Added phenotypes VLCAD deficiency, 201475 (3) for gene: ACADVL
Prepair 1000+ v1.3 ACADM Seb Lunke Added phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 for gene: ACADM
Prepair 1000+ v1.3 ACAD9 Seb Lunke Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) for gene: ACAD9
Prepair 1000+ v1.3 ABCD1 Seb Lunke Added phenotypes Adrenoleukodystrophy, 300100 (3) for gene: ABCD1
Prepair 1000+ v1.3 ABCC8 Seb Lunke Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) for gene: ABCC8
Prepair 1000+ v1.3 ABCB4 Seb Lunke Added phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3) for gene: ABCB4
Prepair 1000+ v1.3 ABCB11 Seb Lunke Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847 (3) for gene: ABCB11
Prepair 1000+ v1.3 ABCA3 Seb Lunke Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) for gene: ABCA3
Prepair 1000+ v1.3 ABCA12 Seb Lunke Added phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) for gene: ABCA12
Prepair 1000+ v1.3 AARS2 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 8, 614096 (3) for gene: AARS2
Prepair 1000+ v1.3 AAAS Seb Lunke Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3) for gene: AAAS
Paroxysmal Dyskinesia v0.125 KIAA1161 Shekeeb Mohammad commented on gene: KIAA1161: Dyskinesia can be provoked by quick movement (Kinesigenic) or by Hyperventilation
Patients can present with acute hemiplegia
Paroxysmal Dyskinesia v0.125 KIAA1161 Shekeeb Mohammad edited their review of gene: KIAA1161: Changed phenotypes: paroxysmal kinesigenic dyskinesia, brain calcification, episodic hemiparesis
Congenital Heart Defect v0.303 RERE Julia Broadbent gene: RERE was added
gene: RERE was added to Congenital Heart Defect. Sources: Literature,ClinGen
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RERE were set to 29330883, 27087320, 33772547, 36053530
Phenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM #616975)
Penetrance for gene: RERE were set to Complete
Review for gene: RERE was set to GREEN
Added comment: Niehaus, Kim & Manning (2022) (PMID: 36053530) provide an updated literature review, and assert 23 cases have been reported of Neurodevelopmental Disorders with or without Anomalies of the Brain, Eye, or Heart (NEDBEH) caused by heterozygous pathogenic variants in RERE. Eleven of the 23 patients reported (48%) had congenital heart disease, most commonly septal disease. All variants were de novo except one, inherited from a mother with mild symptoms. Variant types include missense, frameshift, small deletions & duplications and 1 large deletion. Missense variants in the atrophin-1 domain seem to present with a more severe phenotype than loss-of-function variants

NEDBEH is fully penetrant but has variable expressivity – congenital heart anomalies not always present.

ClinGen: definitive association with AD complex neurodevelopmental disorder with or without congenital anomalies.
Sources: Literature, ClinGen
Mendeliome v1.1350 CCDC66 Ain Roesley Phenotypes for gene: CCDC66 were changed from to myopia MONDO:0001384, CCDC66-related
Mendeliome v1.1349 CCDC66 Ain Roesley Classified gene: CCDC66 as Red List (low evidence)
Mendeliome v1.1349 CCDC66 Ain Roesley Gene: ccdc66 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5606 VCP Manny Jacobs gene: VCP was added
gene: VCP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to PMID: 37883978
Phenotypes for gene: VCP were set to Neurodevelopmental disorder (MONDO: 0700092)
Review for gene: VCP was set to GREEN
Added comment: 13 unrelated individuals with childhood onset ID/DD disorder including macrocephaly, hypotonia and dysmorphic features. Non-specific / mild MRI findings.
12 de novo - 1 inherited
Sources: Literature
Mendeliome v1.1348 CCDC66 Ain Roesley Marked gene: CCDC66 as ready
Mendeliome v1.1348 CCDC66 Ain Roesley Added comment: Comment when marking as ready: de novo NMD in another family
5 other de novo missense (D94E absent in nomad, T121A 25 hets, R499C 31 hets, R553Q 59 hets, K803E 40 hets)

noted that there's lots of NMD variants in gnomad v4
Mendeliome v1.1348 CCDC66 Ain Roesley Gene: ccdc66 has been removed from the panel.
Macrocephaly_Megalencephaly v0.136 VCP Manny Jacobs gene: VCP was added
gene: VCP was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to PMID: 37883978
Phenotypes for gene: VCP were set to Neurodevelopmental disorder (MONDO: 0700092)
Review for gene: VCP was set to GREEN
Added comment: 13 unrelated individuals with childhood onset ID/DD disorder including macrocephaly, hypotonia and dysmorphic features. Non-specific / mild MRI findings.
12 de novo - 1 inherited
Sources: Literature
Callosome v0.509 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities to Corpus callosum abnormalities MONDO:0009022
Mendeliome v1.1348 MYO9B Elena Savva Phenotypes for gene: MYO9B were changed from {Celiac disease, susceptibility to, 4} MIM#609753 to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Mendeliome v1.1347 MYO9B Elena Savva Mode of inheritance for gene: MYO9B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1346 MYO9B Elena Savva Classified gene: MYO9B as Amber List (moderate evidence)
Mendeliome v1.1346 MYO9B Elena Savva Gene: myo9b has been classified as Amber List (Moderate Evidence).
Callosome v0.508 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to 24780443; 28284480; 28742278
Callosome v0.507 ZEB1 Suliman Khan changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.
Congenital Disorders of Glycosylation v1.42 MAN2B2 Zornitza Stark Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Congenital Disorders of Glycosylation v1.41 MAN2B2 Zornitza Stark Publications for gene: MAN2B2 were set to 31775018
Mendeliome v1.1345 MYO9B Melanie Marty reviewed gene: MYO9B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36260368; Phenotypes: Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.507 ZEB1 Suliman Khan changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All patients reported had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrates the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth, which suggests a larger spectrum of malformations related to ZEB1.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.
Congenital Disorders of Glycosylation v1.40 MAN2B2 Zornitza Stark Classified gene: MAN2B2 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.40 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5606 AGPAT3 Elena Savva Classified gene: AGPAT3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5606 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.39 MAN2B2 Zornitza Stark edited their review of gene: MAN2B2: Added comment: PMID:35637269 describes a second case of a patient with developmental delay and dysmorphic features, but no immune phenotype with compound heterozygous variants (p.Ser147del and p.Glu790Lys).; Changed rating: AMBER; Changed publications: 31775018, 35637269; Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Mendeliome v1.1345 MAN2B2 Zornitza Stark Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; immunodeficiency
Callosome v0.507 PAK1 Elena Savva Classified gene: PAK1 as Green List (high evidence)
Callosome v0.507 PAK1 Elena Savva Gene: pak1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.136 PAK1 Elena Savva Classified gene: PAK1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.136 PAK1 Elena Savva Gene: pak1 has been classified as Green List (High Evidence).
Callosome v0.506 PAK1 Elena Savva Marked gene: PAK1 as ready
Callosome v0.506 PAK1 Elena Savva Gene: pak1 has been removed from the panel.
Macrocephaly_Megalencephaly v0.135 PAK1 Elena Savva Marked gene: PAK1 as ready
Macrocephaly_Megalencephaly v0.135 PAK1 Elena Savva Gene: pak1 has been removed from the panel.
Mendeliome v1.1344 HEPHL1 Ain Roesley Marked gene: HEPHL1 as ready
Mendeliome v1.1344 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Mendeliome v1.1344 HEPHL1 Ain Roesley Classified gene: HEPHL1 as Red List (low evidence)
Mendeliome v1.1344 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Hair disorders v0.70 HEPHL1 Ain Roesley Marked gene: HEPHL1 as ready
Hair disorders v0.70 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Hair disorders v0.70 HEPHL1 Ain Roesley Classified gene: HEPHL1 as Red List (low evidence)
Hair disorders v0.70 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Red cell disorders v1.21 POLE Seb Lunke Marked gene: POLE as ready
Red cell disorders v1.21 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Red cell disorders v1.21 POLE Seb Lunke Classified gene: POLE as Red List (low evidence)
Red cell disorders v1.21 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Marked gene: MIEF1 as ready
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Optic Atrophy v1.23 MIEF1 Seb Lunke Marked gene: MIEF1 as ready
Optic Atrophy v1.23 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mendeliome v1.1343 MIEF1 Seb Lunke Marked gene: MIEF1 as ready
Mendeliome v1.1343 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mendeliome v1.1343 ELP1 Ain Roesley Phenotypes for gene: ELP1 were changed from Dysautonomia, familial MIM#223900; paediatric medulloblastoma to Dysautonomia, familial MIM#223900; paediatric medulloblastoma; neurodevelopmental disorder, MONDO:0700092, ELP1-related
Bone Marrow Failure v1.54 POLE Seb Lunke Marked gene: POLE as ready
Bone Marrow Failure v1.54 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Mendeliome v1.1342 ELP1 Ain Roesley Publications for gene: ELP1 were set to 11179008; 32296180
Bone Marrow Failure v1.54 POLE Seb Lunke Classified gene: POLE as Red List (low evidence)
Bone Marrow Failure v1.54 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Mendeliome v1.1341 MAN2B2 Zornitza Stark Publications for gene: MAN2B2 were set to 31775018
Mendeliome v1.1340 ELP1 Ain Roesley reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: None; Publications: 36864284; Phenotypes: neurodevelopmental disorder, MONDO:0700092, ELP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.298 ELP1 Ain Roesley Marked gene: ELP1 as ready
Leukodystrophy v0.298 ELP1 Ain Roesley Gene: elp1 has been classified as Red List (Low Evidence).
Mendeliome v1.1340 CCDC66 Anna Ritchie gene: CCDC66 was added
gene: CCDC66 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC66 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC66 were set to PMID: 37852749
Review for gene: CCDC66 was set to RED
Added comment: Nonsense variant (c.172C>T, p.Q58X) segregating in family with 5 affected members with high myopia (HM). Additionally, one family member with the variant displayed no symptoms, hinting at possible incomplete penetrance. Six other rare variants were identified in 200 sporadic high myopia patients that could potentially be linked to HM. A deficiency in CCDC66 might disrupt cell proliferation by influencing the mitotic process during retinal growth, leading to HM.
Sources: Literature
Mendeliome v1.1340 MAN2B2 Zornitza Stark Classified gene: MAN2B2 as Amber List (moderate evidence)
Mendeliome v1.1340 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.298 ELP1 Ain Roesley Classified gene: ELP1 as Red List (low evidence)
Leukodystrophy v0.298 ELP1 Ain Roesley Gene: elp1 has been classified as Red List (Low Evidence).
Callosome v0.506 PAK1 Lauren Rogers changed review comment from: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder
Sources: Literature; to: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder. All missense variants
Sources: Literature
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Red cell disorders v1.20 POLE Lilian Downie gene: POLE was added
gene: POLE was added to Red cell disorders. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to PMID: 37833059
Phenotypes for gene: POLE were set to MONDO:0002254 syndromic disease
Review for gene: POLE was set to RED
Added comment: 2 sibs with compound heterozygous high impact variants with combined features of previously reported phenotypes (IMAGe and FILS) with this gene and new feature of congenital anaemia that evolved into myelodysplastic syndrome. Both had growth failure and epicanthic folds. Some functional work on human cells and a fish model to provide evidence of role in haematopoiesis.
Sources: Literature
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.18 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.135 PAK1 Lauren Rogers changed review comment from: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder
Sources: Literature; to: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder. All missense variants
Sources: Literature
Lissencephaly and Band Heterotopia v1.17 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v1.17 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Callosome v0.506 ZEB1 Suliman Khan edited their review of gene: ZEB1: Changed rating: AMBER
Cerebellar and Pontocerebellar Hypoplasia v1.63 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.63 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.189 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.189 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5605 AGPAT3 Elena Savva Classified gene: AGPAT3 as Green List (high evidence)
Mitochondrial disease v0.892 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Intellectual disability syndromic and non-syndromic v0.5605 AGPAT3 Elena Savva Gene: agpat3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v1.16 MFN2 Elena Savva Marked gene: MFN2 as ready
Lissencephaly and Band Heterotopia v1.16 MFN2 Elena Savva Gene: mfn2 has been removed from the panel.
Cerebellar and Pontocerebellar Hypoplasia v1.62 MFN2 Elena Savva Marked gene: MFN2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.62 MFN2 Elena Savva Gene: mfn2 has been removed from the panel.
Polymicrogyria and Schizencephaly v0.188 MFN2 Elena Savva Marked gene: MFN2 as ready
Polymicrogyria and Schizencephaly v0.188 MFN2 Elena Savva Gene: mfn2 has been removed from the panel.
Optic Atrophy v1.23 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Optic Atrophy v1.23 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Optic Atrophy v1.23 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5605 AGPAT3 Elena Savva Marked gene: AGPAT3 as ready
Intellectual disability syndromic and non-syndromic v0.5605 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Mitochondrial disease v0.892 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5605 AGPAT3 Elena Savva Classified gene: AGPAT3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5605 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1339 AGPAT3 Elena Savva Classified gene: AGPAT3 as Amber List (moderate evidence)
Mendeliome v1.1339 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1339 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Mendeliome v1.1339 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Mendeliome v1.1339 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Marked gene: AGPAT3 as ready
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1338 AGPAT3 Elena Savva Marked gene: AGPAT3 as ready
Mendeliome v1.1338 AGPAT3 Elena Savva Gene: agpat3 has been removed from the panel.
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Classified gene: AGPAT3 as Amber List (moderate evidence)
Syndromic Retinopathy v0.208 AGPAT3 Elena Savva Gene: agpat3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5604 ELP1 Ain Roesley Marked gene: ELP1 as ready
Intellectual disability syndromic and non-syndromic v0.5604 ELP1 Ain Roesley Gene: elp1 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.53 POLE Lilian Downie gene: POLE was added
gene: POLE was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to PMID: 37833059
Phenotypes for gene: POLE were set to MONDO:0002254 syndromic disease
Review for gene: POLE was set to RED
Added comment: 2 sibs with compound heterozygous high impact variants with combined features of previously reported phenotypes (IMAGe and FILS) with this gene and new feature of congenital anaemia that evolved into myelodysplastic syndrome. Both had growth failure and epicanthic folds. Some functional work on human cells and a fish model to provide evidence of role in haematopoiesis.
Sources: Literature
Callosome v0.506 PAK1 Lauren Rogers gene: PAK1 was added
gene: PAK1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 37820543
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Review for gene: PAK1 was set to GREEN
Added comment: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder
Sources: Literature
Macrocephaly_Megalencephaly v0.135 PAK1 Lauren Rogers gene: PAK1 was added
gene: PAK1 was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 37820543
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158)
Review for gene: PAK1 was set to GREEN
Added comment: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5604 ELP1 Ain Roesley Classified gene: ELP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5604 ELP1 Ain Roesley Gene: elp1 has been classified as Red List (Low Evidence).
Callosome v0.506 ZEB1 Suliman Khan edited their review of gene: ZEB1: Changed publications: PMID: 37857482; Changed phenotypes: MIM# 609141, Corpus callosum abnormalities
Mendeliome v1.1338 SGSM3 Dean Phelan gene: SGSM3 was added
gene: SGSM3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSM3 were set to PMID: 37833060
Phenotypes for gene: SGSM3 were set to Neurodevelopmental disorder (MONDO:0700092), SGSM3-related
Review for gene: SGSM3 was set to AMBER
Added comment: PMID: 37833060
- 13 patients from 8 families of Ashkenazi Jewish origin all had the same homozygous frameshift variant (c.981dup). Predicted to cause NMD. The variant co-segregated with disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional prevalent phenotypes observed included hypotonia, behavioural challenges and short stature. Considered a founder variant (1 in 52 Ashkenazi Jews carry the variant). Also present in other populations but no homozygotes in gnomAD.
Sources: Literature
Callosome v0.506 ZEB1 Suliman Khan reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.131 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408; 35849269
Mendeliome v1.1338 LRRC23 Elena Savva Phenotypes for gene: LRRC23 were changed from Non-syndromic male infertility due to sperm motility disorder, (MONDO:0017173), LRRC23-related to Non-syndromic male infertility due to sperm motility disorder, (MONDO:0017173), LRRC23-related
Mendeliome v1.1337 LRRC23 Elena Savva Marked gene: LRRC23 as ready
Mendeliome v1.1337 LRRC23 Elena Savva Gene: lrrc23 has been classified as Red List (Low Evidence).
Mendeliome v1.1337 LRRC23 Elena Savva Phenotypes for gene: LRRC23 were changed from Non-syndromic male infertility due to sperm motility disorder MONDO:0017173 to Non-syndromic male infertility due to sperm motility disorder, (MONDO:0017173), LRRC23-related
Predominantly Antibody Deficiency v0.130 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408; 35849269
Mendeliome v1.1336 LRRC23 Elena Savva Classified gene: LRRC23 as Red List (low evidence)
Mendeliome v1.1336 LRRC23 Elena Savva Gene: lrrc23 has been classified as Red List (Low Evidence).
Mendeliome v1.1335 AGPAT3 Ee Ming Wong gene: AGPAT3 was added
gene: AGPAT3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT3 were set to 37821758
Phenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related
Review for gene: AGPAT3 was set to GREEN
gene: AGPAT3 was marked as current diagnostic
Added comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa
- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant
- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis
- KO AGPAT3 mouse demonstrated impaired neuronal migration
Sources: Literature
Predominantly Antibody Deficiency v0.129 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408
Polymicrogyria and Schizencephaly v0.188 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5603 AGPAT3 Ee Ming Wong changed review comment from: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa
- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant
- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis
- KO AGPAT3 mouse demonstrated impaired neuronal migration
Sources: Literature; to: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa
- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant
- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis
- KO AGPAT3 mouse demonstrated impaired neuronal migration
Sources: Literature
Predominantly Antibody Deficiency v0.128 CD81 Zornitza Stark Classified gene: CD81 as Green List (high evidence)
Predominantly Antibody Deficiency v0.128 CD81 Zornitza Stark Gene: cd81 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.62 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Mendeliome v1.1335 HEPHL1 Naomi Baker gene: HEPHL1 was added
gene: HEPHL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEPHL1 were set to PMID: 31125343; 31293895
Phenotypes for gene: HEPHL1 were set to Abnormal hair, joint laxity, and developmental delay (MIM#261990)
Review for gene: HEPHL1 was set to RED
Added comment: PMID: 31125343 - Single patient reported with biallelic variants (missense and splice) that presented with abnormal hair and early cognitive delays. Authors also created a knockout mouse, with homozygotes having short, curled whiskers while heterozygotes did not have this phenotype.

PMID: 31293895 - Report of curly whiskers (cw) mouse model that has a spontaneous variant (frame shifting single base insertion) in Hephl1.
Sources: Literature
Fetal anomalies v1.161 MFN2 Elena Savva Marked gene: MFN2 as ready
Fetal anomalies v1.161 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.161 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Fetal anomalies v1.161 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.127 CD81 Zornitza Stark edited their review of gene: CD81: Added comment: PMID:35849269 - Second patient reported with compound heterozygous variants (c.67–1 G > T and p.D137Mfs*10). The major manifestation of this patient was IgA nephropathy with aberrant serum galactose-deficient IgA1 and not recurrent infections.; Changed rating: GREEN; Changed publications: 20237408, 35849269
Intellectual disability syndromic and non-syndromic v0.5603 SGSM3 Ain Roesley Marked gene: SGSM3 as ready
Intellectual disability syndromic and non-syndromic v0.5603 SGSM3 Ain Roesley Gene: sgsm3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5603 SGSM3 Ain Roesley Classified gene: SGSM3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5603 SGSM3 Ain Roesley Gene: sgsm3 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.207 AGPAT3 Ee Ming Wong gene: AGPAT3 was added
gene: AGPAT3 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT3 were set to 37821758
Phenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related
Review for gene: AGPAT3 was set to GREEN
gene: AGPAT3 was marked as current diagnostic
Added comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa
- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant
- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis
- KO AGPAT3 mouse demonstrated impaired neuronal migration
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5602 SGSM3 Ain Roesley Tag founder tag was added to gene: SGSM3.
Mendeliome v1.1335 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408
Intellectual disability syndromic and non-syndromic v0.5602 SGSM3 Dean Phelan gene: SGSM3 was added
gene: SGSM3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSM3 were set to PMID: 37833060
Phenotypes for gene: SGSM3 were set to Neurodevelopmental disorder (MONDO:0700092), SGSM3-related
Review for gene: SGSM3 was set to GREEN
Added comment: PMID: 37833060
- 13 patients from 8 families of Ashkenazi Jewish origin all had the same homozygous frameshift variant (c.981dup). Predicted to cause NMD. The variant co-segregated with disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional prevalent phenotypes observed included hypotonia, behavioural challenges and short stature. Considered a founder variant (1 in 52 Ashkenazi Jews carry the variant). Also present in other populations but no homozygotes in gnomAD.
Sources: Literature
Lissencephaly and Band Heterotopia v1.16 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Fetal anomalies v1.160 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Mendeliome v1.1334 DLG2 Elena Savva Marked gene: DLG2 as ready
Mendeliome v1.1334 DLG2 Elena Savva Gene: dlg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5602 AGPAT3 Ee Ming Wong gene: AGPAT3 was added
gene: AGPAT3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT3 were set to PMID: 37821758
Phenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related
Review for gene: AGPAT3 was set to GREEN
gene: AGPAT3 was marked as current diagnostic
Added comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa
- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant
- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis
- KO AGPAT3 mouse demonstrated impaired neuronal migration
Sources: Literature
Hair disorders v0.69 HEPHL1 Naomi Baker gene: HEPHL1 was added
gene: HEPHL1 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEPHL1 were set to PMID: 31125343; 31293895
Phenotypes for gene: HEPHL1 were set to Abnormal hair, joint laxity, and developmental delay (MIM#261990)
Review for gene: HEPHL1 was set to RED
Added comment: PMID: 31125343 - Single patient reported with biallelic variants (missense and splice) that presented with abnormal hair and early cognitive delays. Authors also created a knockout mouse, with homozygotes having short, curled whiskers while heterozygotes did not have this phenotype.

PMID: 31293895 - Report of curly whiskers (cw) mouse model that has a spontaneous variant ( frame shifting single base insertion) in Hephl1.
Sources: Literature
Mendeliome v1.1334 DLG2 Elena Savva Classified gene: DLG2 as Amber List (moderate evidence)
Mendeliome v1.1334 DLG2 Elena Savva Gene: dlg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5602 DLG2 Elena Savva Classified gene: DLG2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5602 DLG2 Elena Savva Gene: dlg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5601 DLG2 Elena Savva Marked gene: DLG2 as ready
Intellectual disability syndromic and non-syndromic v0.5601 DLG2 Elena Savva Gene: dlg2 has been classified as Red List (Low Evidence).
Mendeliome v1.1333 DLG2 Elena Savva gene: DLG2 was added
gene: DLG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLG2 were set to PMID: 37860969
Phenotypes for gene: DLG2 were set to Intellectual disability (MONDO#0001071), DLG2-related
Review for gene: DLG2 was set to AMBER
Added comment: PMID: 37860969 - 13 patients from 10 families with neurodevelopmental disorders, dysmorphic features and intragenic deletions including both exonic (minimal affect all transcripts) and UTR regions.
Majority of variants were inherited, some de novo. But many NMD PTCs in gnomAD (some looking messy, in noncanonical transcript etc.)
Sources: Literature
Mendeliome v1.1332 CASP2 Ain Roesley Marked gene: CASP2 as ready
Mendeliome v1.1332 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Marked gene: CASP2 as ready
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5601 DLG2 Elena Savva gene: DLG2 was added
gene: DLG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLG2 were set to PMID: 37860969
Phenotypes for gene: DLG2 were set to Intellectual disability (MONDO#0001071), DLG2-related
Review for gene: DLG2 was set to AMBER
Added comment: PMID: 37860969 - 13 patients from 10 families with neurodevelopmental disorders, dysmorphic features and intragenic deletions including both exonic (minimal affect all transcripts) and UTR regions.
Majority of variants were inherited, some de novo. But many NMD PTCs in gnomAD (some looking messy, in noncanonical transcript etc.)
Sources: Literature
Mendeliome v1.1332 CASP2 Ain Roesley Classified gene: CASP2 as Green List (high evidence)
Mendeliome v1.1332 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Classified gene: CASP2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v1.16 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Mendeliome v1.1331 CD81 Zornitza Stark Classified gene: CD81 as Green List (high evidence)
Mendeliome v1.1331 CD81 Zornitza Stark Gene: cd81 has been classified as Green List (High Evidence).
Mendeliome v1.1330 LRRC23 Belinda Chong gene: LRRC23 was added
gene: LRRC23 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRRC23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC23 were set to 37804054
Phenotypes for gene: LRRC23 were set to Non-syndromic male infertility due to sperm motility disorder MONDO:0017173
Review for gene: LRRC23 was set to RED
Added comment: PMID 37804054: A homozygous nonsense mutation in LRRC23 (c.376C>T: p. Arg126X) in an infertile AZS patient whose parents were consanguineous. We verified the adversity of this novel mutation because of its ability to disrupt LRRC23 synthesis and impair RSs integrity. Furthermore, we demonstrated an interaction between LRRC23 and RSPH3 in vitro, indicating that LCCR23 is associated with RS in humans. Meanwhile, the LRRC23-mutant patient had a good prognosis following intracytoplasmic sperm injection.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5600 CASP2 Ain Roesley Marked gene: CASP2 as ready
Intellectual disability syndromic and non-syndromic v0.5600 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5600 CASP2 Ain Roesley Classified gene: CASP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5600 CASP2 Ain Roesley Gene: casp2 has been classified as Green List (High Evidence).
Mendeliome v1.1330 MIEF1 Lucy Spencer gene: MIEF1 was added
gene: MIEF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIEF1 were set to 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269
Inherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variant in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.

Functional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events.
Sources: Literature
Lissencephaly and Band Heterotopia v1.15 CASP2 Chris Ciotta gene: CASP2 was added
gene: CASP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to PMID: 37880421
Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related
Review for gene: CASP2 was set to GREEN
gene: CASP2 was marked as current diagnostic
Added comment: 7 patients from 5 families:
- 4 families homozygous for PTC.
- 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites.

5/5 have ID/dev delay
1/5 seizures
2/5 hypotonia
3/5 Lissencephaly (pachygyria + cortical thickening)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5599 CASP2 Ain Roesley gene: CASP2 was added
gene: CASP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 37880421
Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related
Penetrance for gene: CASP2 were set to Complete
Review for gene: CASP2 was set to GREEN
gene: CASP2 was marked as current diagnostic
Added comment: 7 patients from 5 families
4 families hom for PTCs, 1 family Chet for splice+PTC
RNA studies done for the splice to indicate usage of 2 cryptic splice donor sites

5/5 have ID/dev delay
1/5 has seizures
2/5 hypotonia
3/5 lissencephaly (pachygyria and cortical thickening)
Sources: Literature
Mendeliome v1.1330 CASP2 Lisa Norbart gene: CASP2 was added
gene: CASP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 37880421
Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related
Penetrance for gene: CASP2 were set to Complete
Review for gene: CASP2 was set to GREEN
gene: CASP2 was marked as current diagnostic
Added comment: 7 patients from 5 families
4 families hom for PTCs, 1 family Chet for splice+PTC
RNA studies done for the splice to indicate usage of two cryptic splice donor sites

5/5 have ID/dev delay
1/5 has seizures
2/5 hypotonia
3/5 lissencephaly (pachygyria and cortical thickening)
Sources: Literature
Mitochondrial disease v0.891 MIEF1 Lucy Spencer gene: MIEF1 was added
gene: MIEF1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIEF1 were set to 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269
Inherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variants in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.

Functional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events.
Sources: Literature
Leukodystrophy v0.297 ELP1 Sarah Pantaleo edited their review of gene: ELP1: Changed rating: RED
Leukodystrophy v0.297 ELP1 Sarah Pantaleo gene: ELP1 was added
gene: ELP1 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to PMID: 36864284
Phenotypes for gene: ELP1 were set to neurodevelopmental disorder, MONDO:0700092, ELP1-related
Added comment: “A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopment disorder”.

The Elongator complex is suggested to play a role in NDDs, given that patient-derived mutations in its ELP2, ELP3, ELP4 and ELP6 subunits have been associated with these disorders.

Pathogenic variants in ELP1 have been previously found in familial dysautonomia and medulloblastoma, with no link to NDDs affecting primarily the central nervous system.

Clinical investigation included patient history and physical, neurological and MRI. A novel homozygous likely pathogenic ELP1 variant was identified by WGS (absent from gnomAD). Functional studies included in silico analysis of the mutated ELP1 in the context of the holo-complex, production and purification of the ELP1 harbouring the identified mutation and in vitro analyses.

Report a novel missense mutation in the ELP1 identified in two siblings with ID and GDD (both less than 10 years old). The mutation is shown to perturb the ability of ELP123 to bind tRNAs and compromises the function of the Elongator in vitro and in human cells.

Both sibling are non-verbal and had severe ID/GDD. MRI revealed white matter lesions with enlarged perivascular spaces, suggestive of an inflammatory reaction associate with demyelination. WGS identified c.2444A>C; p.(Lys815Thr), homozygous in both siblings. Consanguineous family. Parents heterozygous and asymptomatic. Carry out significant functional studies.

Conclude that screening for ELP1 mutations “may be beneficial”.
Sources: Literature
Optic Atrophy v1.22 MIEF1 Lucy Spencer gene: MIEF1 was added
gene: MIEF1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIEF1 were set to 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269
Inherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variant in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.

Functional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5598 ELP1 Sarah Pantaleo gene: ELP1 was added
gene: ELP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to PMID: 36864284
Phenotypes for gene: ELP1 were set to Neurodevelopmental disorder, MONDO:0700092, ELP1-related
Review for gene: ELP1 was set to RED
Added comment: “A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopment disorder”.

The Elongator complex is suggested to play a role in NDDs, given that patient-derived mutations in its ELP2, ELP3, ELP4 and ELP6 subunits have been associated with these disorders.

Pathogenic variants in ELP1 have been previously found in familial dysautonomia and medulloblastoma, with no link to NDDs affecting primarily the central nervous system.

Clinical investigation included patient history and physical, neurological and MRI. A novel homozygous likely pathogenic ELP1 variant was identified by WGS (absent from gnomAD). Functional studies included in silico analysis of the mutated ELP1 in the context of the holo-complex, production and purification of the ELP1 harbouring the identified mutation and in vitro analyses.

Report a novel missense mutation in the ELP1 identified in two siblings with ID and GDD (both less than 10 years old). The mutation is shown to perturb the ability of ELP123 to bind tRNAs and compromises the function of the Elongator in vitro and in human cells.

Both sibling are non-verbal and had severe ID/GDD. MRI revealed white matter lesions with enlarged perivascular spaces, suggestive of an inflammatory reaction associate with demyelination. WGS identified c.2444A>C; p.(Lys815Thr), homozygous in both siblings. Consanguineous family. Parents heterozygous and asymptomatic. Carry out significant functional studies.

Conclude that screening for ELP1 mutations “may be beneficial”.
Sources: Literature
Mendeliome v1.1330 MAN2B2 Achchuthan Shanmugasundram reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35637269; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1330 CD81 Achchuthan Shanmugasundram reviewed gene: CD81: Rating: GREEN; Mode of pathogenicity: None; Publications: 35849269; Phenotypes: Immunodeficiency, common variable, 6, OMIM:613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1330 MME Bryony Thompson Mode of inheritance for gene: MME was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.323 AXL Zornitza Stark Mode of inheritance for gene: AXL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.322 AXL Zornitza Stark Classified gene: AXL as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.322 AXL Zornitza Stark Gene: axl has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.321 AXL Zornitza Stark reviewed gene: AXL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1329 AXL Zornitza Stark Classified gene: AXL as Red List (low evidence)
Mendeliome v1.1329 AXL Zornitza Stark Gene: axl has been classified as Red List (Low Evidence).
Mendeliome v1.1328 AXL Zornitza Stark reviewed gene: AXL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Differences of Sex Development v0.293 AXL Zornitza Stark gene: AXL was added
gene: AXL was added to Differences of Sex Development. Sources: Expert Review
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXL were set to 24476074
Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related
Review for gene: AXL was set to RED
Added comment: Four variants reported in individuals with KS/IHH. One is non-canonical splice site variant (c.586-6 C>T) but authors demonstrate no abnormal splicing occurs. Remainder are missense. Segregation in one family only: inherited from phenotypically normal parent. Axl null mice demonstrated delay in first estrus and the interval between vaginal opening and first estrus
Sources: Expert Review
Differences of Sex Development v0.292 SEMA3A Zornitza Stark Marked gene: SEMA3A as ready
Differences of Sex Development v0.292 SEMA3A Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
Differences of Sex Development v0.292 SEMA3A Zornitza Stark Classified gene: SEMA3A as Green List (high evidence)
Differences of Sex Development v0.292 SEMA3A Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
Differences of Sex Development v0.291 SEMA3A Zornitza Stark gene: SEMA3A was added
gene: SEMA3A was added to Differences of Sex Development. Sources: Expert Review
Mode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827
Phenotypes for gene: SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897
Review for gene: SEMA3A was set to GREEN
Added comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). More severe phenotype with biallelic SEMA3A variants including postnatal short stature and congenital heart defects in 3/3 published, unrelated individuals.

PMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia.

PMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth)

PMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart
defect and camptodactyly
Sources: Expert Review
Differences of Sex Development v0.289 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Differences of Sex Development v0.289 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Differences of Sex Development v0.289 DCAF17 Zornitza Stark Classified gene: DCAF17 as Green List (high evidence)
Differences of Sex Development v0.289 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Differences of Sex Development v0.288 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Differences of Sex Development. Sources: Expert Review
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080
Review for gene: DCAF17 was set to GREEN
Added comment: Well established gene-disease association. Hypogonadism is a key feature.
Sources: Expert Review
Differences of Sex Development v0.287 CLPP Zornitza Stark Marked gene: CLPP as ready
Differences of Sex Development v0.287 CLPP Zornitza Stark Gene: clpp has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.287 CLPP Zornitza Stark Classified gene: CLPP as Amber List (moderate evidence)
Differences of Sex Development v0.287 CLPP Zornitza Stark Gene: clpp has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.286 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Differences of Sex Development. Sources: Expert Review
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 23541340; 25956234; 26970254; 27087618; 27650058; 27650058; 27899912
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129
Review for gene: CLPP was set to AMBER
Added comment: Multiple families with Perrault syndrome, HH is an inconsistent feature.

PMID: 23541340, describes 3 consanguineous Pakistani families (PDF1, PKDF291 and DEM4395), all affected individuals had sensorineural hearing loss. Family PDF1: 3 affected sisters, 1/3 had delayed puberty, streak ovaries and hormone levels consistant with hypogonadotropic hypogonadism, 2/3 had incipient POF and 1/3 had white matter phenotype. All three had epilepsy, short stature, microcephaly (< 3 percentile), moderate learning difficulties and ataxia.
Family PKDF291: 4 affected females with primary amenorrhea and hypogonadotropic hypogonadism. 3/4 had rudimentary uterus and small ovaries, 1/4 had small uterus and normal sized ovaries. No learning disabilities, microcephaly, short stature, epilepsy or neurological deficiet in all affected females.
Family DEM4395: 1 affected male and 2 affected females. All females had normal periods but their hormone profiles were not investigated. Aside from hearing loss there were no other self reported medical problems.

PMID: 25956234. Consanguineous Saudi family with 1 affected male and 1 affected female. Both patients have hearing loss, growth retardation and mental retardation, spastic diplegia and mild-severe white matter loss. No seizures were described in the patients. There is a third sibling (8 months) with the same variant; however, he did not show any of the phenotypes seen in his siblings but he is under regular checkups from a clinical team.

PMID:26970254. Consanguineous family of Arabic descent. Proband with 4 unaffected siblings and parents. Proband has hearing loss, azoospermia, no neurological symptoms other than the foot drop (neurophysiology revealed a sensory-motor demyelinative axonal peripheral neuropathy of the lower limbs). Father has cerebellar ataxia (cause unknown).

PMID: 27087618. Non-consanguineous Turkish family; however, parents are from the same village. 2 affected siblings (1 male, 1 female). Sister has secondary amenorrhea, hearing loss, no ovaries detected, hypogonadotropic hypogonadism, no neurological problems. Brother has hearing loss but no other problems.

PMID: 27650058. Consanguineous Algerian family with 2 affected females. Both have hearing loss and secondary amenorrhea, but no other neurological symptoms.

PMID: 27899912. 3 affected families, with 5 affected individuals (all males). All had congenital deafness, psychomotor retardation, white matter phenotype and short stature. Patients were not tested for infertility.
Sources: Expert Review
Differences of Sex Development v0.285 CCDC141 Zornitza Stark Marked gene: CCDC141 as ready
Differences of Sex Development v0.285 CCDC141 Zornitza Stark Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.285 CCDC141 Zornitza Stark Classified gene: CCDC141 as Amber List (moderate evidence)
Differences of Sex Development v0.285 CCDC141 Zornitza Stark Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.284 CCDC141 Zornitza Stark gene: CCDC141 was added
gene: CCDC141 was added to Differences of Sex Development. Sources: Expert Review
Mode of inheritance for gene: CCDC141 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CCDC141 were set to 251920460; 28324054; 32520725; 27014940
Phenotypes for gene: CCDC141 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related
Review for gene: CCDC141 was set to AMBER
Added comment: PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141.

PMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected.

PMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH.

PMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration.

Overall, insufficient evidence for gene-disease association; may be a modifier.
Sources: Expert Review
Congenital Heart Defect v0.303 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Congenital Heart Defect v0.303 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.303 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from to Congenital heart defects, multiple types, 6 MIM#613854
Congenital Heart Defect v0.302 GDF1 Zornitza Stark Publications for gene: GDF1 were set to
Congenital Heart Defect v0.301 GDF1 Zornitza Stark Mode of inheritance for gene: GDF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.24 ELANE Zornitza Stark Publications for gene: ELANE were set to
Autoinflammatory Disorders v1.23 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Autoinflammatory Disorders v1.22 ELANE Zornitza Stark edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)

According to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 33968054, 3124897
Phagocyte Defects v1.21 ELANE Zornitza Stark Publications for gene: ELANE were set to 10581030; 11001877
Phagocyte Defects v1.20 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Phagocyte Defects v1.19 ELANE Zornitza Stark edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)

According to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 10581030, 11001877, 33968054, 3124897
Bone Marrow Failure v1.53 ELANE Zornitza Stark Publications for gene: ELANE were set to 19036076
Bone Marrow Failure v1.52 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Bone Marrow Failure v1.51 ELANE Zornitza Stark edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)

According to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 19036076, 3124897, 33968054
Adult Cardiac SuperPanel v1.18 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Dystonia and Chorea v0.232 MAPT Bryony Thompson edited their review of gene: MAPT: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1328 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Congenital Heart Defect v0.300 GDF1 Ting Chan edited their review of gene: GDF1: Changed phenotypes: Congenital heart defects, multiple types, 6 MIM#613854
Congenital Heart Defect v0.300 GDF1 Ting Chan edited their review of gene: GDF1: Changed publications: 33131162, 35351224, 32144877
Congenital Heart Defect v0.300 GDF1 Ting Chan reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33131162, 35351224, 32144877; Phenotypes: 613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1327 ELANE Michelle Torres reviewed gene: ELANE: 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: 33968054, 3124897; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700, Neutropaenia, cyclic, MIM# 162800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5598 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Intellectual disability syndromic and non-syndromic v0.5597 AXIN1 Zornitza Stark changed review comment from: Intellectual disability is a feature.; to: Developmental delay is a feature.
Intellectual disability syndromic and non-syndromic v0.5597 AXIN1 Zornitza Stark reviewed gene: AXIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1327 AXIN1 Zornitza Stark changed review comment from: Mouse data only.; to: Caudal duplication: Mouse data only.
Mendeliome v1.1327 AXIN1 Zornitza Stark edited their review of gene: AXIN1: Added comment: PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis; Changed rating: GREEN; Changed publications: 37582359; Changed phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1327 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from Caudal duplication anomaly, MIM# 607864; Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Macrocephaly_Megalencephaly v0.135 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Skeletal dysplasia v0.256 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Skeletal dysplasia v0.255 AXIN1 Zornitza Stark reviewed gene: AXIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.22 DDX58 Zornitza Stark Marked gene: DDX58 as ready
Autoinflammatory Disorders v1.22 DDX58 Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.22 DDX58 Zornitza Stark Phenotypes for gene: DDX58 were changed from Lupus Nephritis to Lupus Nephritis, MONDO:0005556, DDX58-related
Mendeliome v1.1326 HMBS Zornitza Stark Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.1325 HMBS Zornitza Stark edited their review of gene: HMBS: Added comment: Rare families with bi-allelic disease reported.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Classified gene: DDX58 as Green List (high evidence)
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Gene: ddx58 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Classified gene: DDX58 as Green List (high evidence)
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Gene: ddx58 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.20 DDX58 Chirag Patel gene: DDX58 was added
gene: DDX58 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX58 were set to PMID: 36261300
Phenotypes for gene: DDX58 were set to Lupus Nephritis
Review for gene: DDX58 was set to GREEN
gene: DDX58 was marked as current diagnostic
Added comment: WES in cohort of lupus nephritis patients found a novel DDX58 pathogenic variant (R109C) in 5 unrelated families. The DDX58 R109C variant is a gain-of-function mutation, elevating type I IFN signaling due to reduced autoinhibition, which leads to RIG-I hyperactivation, increased RIG-I K63 ubiquitination, and MAVS aggregation. Transcriptome analysis revealed an increased IFN signature in patient monocytes. Initiation of JAK inhibitor therapy (baricitinib 2 mg/d) effectively suppressed the IFN signal in one patient.
Sources: Literature
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Green List (high evidence)
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.18 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert Review
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA1 were set to 33516773
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
Review for gene: SERPINA1 was set to GREEN
Added comment: Panniculitis is a very rare, but severe, potentially fatal, feature of AAT deficiency.
Sources: Expert Review
Mendeliome v1.1325 SAT1 Chirag Patel Classified gene: SAT1 as Green List (high evidence)
Mendeliome v1.1325 SAT1 Chirag Patel Gene: sat1 has been classified as Green List (High Evidence).
Mendeliome v1.1324 SAT1 Chirag Patel reviewed gene: SAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35977808; Phenotypes: Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Autoinflammatory Disorders v1.17 SAT1 Chirag Patel Classified gene: SAT1 as Green List (high evidence)
Autoinflammatory Disorders v1.17 SAT1 Chirag Patel Gene: sat1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.16 SAT1 Chirag Patel reviewed gene: SAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35977808; Phenotypes: PMID: 35977808; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v1.1324 GPR156 Zornitza Stark Phenotypes for gene: GPR156 were changed from Sensorineural hearing loss, MONDO:60700002, GPR156-related to Deafness, autosomal recessive 121, MIM# 620551
Mendeliome v1.1323 GPR156 Zornitza Stark reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 121, MIM# 620551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.165 GPR156 Zornitza Stark Phenotypes for gene: GPR156 were changed from Sensorineural hearing loss, MONDO:60700002, GPR156-related to Deafness, autosomal recessive 121, MIM# 620551
Deafness_IsolatedAndComplex v1.164 GPR156 Zornitza Stark reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 121, MIM# 620551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1323 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, MIM# 607596; Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia to Pontocerebellar hypoplasia type 1A, MIM# 607596; Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Mendeliome v1.1322 VRK1 Zornitza Stark edited their review of gene: VRK1: Changed phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia, Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Congenital Heart Defect v0.300 EFTUD2 Sangavi Sivagnanasundram reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23879989, 32315467; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type (MIM#610536, MONDO:0012516); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.170 ABCC9 Chern Lim edited their review of gene: ABCC9: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.170 ABCC9 Chern Lim reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 27532257, 28991257, 36129056, 31575858, 15034580; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome) (MIM#239850), AD, Intellectual disability and myopathy syndrome (MIM#619719), AR, Cardiomyopathy, dilated, 1O (MIM#608569), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital Heart Defect v0.300 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Congenital Heart Defect v0.300 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.300 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome (MIM# 214800)
Congenital Heart Defect v0.299 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Congenital Heart Defect v0.298 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.160 HAND2 Zornitza Stark Phenotypes for gene: HAND2 were changed from Congenital heart defects to Congenital heart disease, MONDO:0005453, HAND2-related
Mendeliome v1.1322 HAND2 Zornitza Stark Phenotypes for gene: HAND2 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, HAND2-related
Congenital Heart Defect v0.297 HAND2 Zornitza Stark Phenotypes for gene: HAND2 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, HAND2-related
Congenital Heart Defect v0.296 HAND2 Zornitza Stark Publications for gene: HAND2 were set to 26865696; 32134193; 26676105; 30217752; 20819618
Autism v0.195 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from Intellectual disability and/or autism, autosomal dominant to Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant; Intellectual developmental disorder, autosomal recessive 65 (MIM#618109)
Autism v0.194 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1321 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant to Mental retardation, autosomal recessive 65 MIM#618109; Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.5597 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant to Mental retardation, autosomal recessive 65 MIM#618109; Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant
Intellectual disability syndromic and non-syndromic v0.5596 KDM5B Lauren Rogers reviewed gene: KDM5B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1320 KDM5B Lauren Rogers reviewed gene: KDM5B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.193 KDM5B Lauren Rogers reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5596 PTPN4 Bryony Thompson Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033
Intellectual disability syndromic and non-syndromic v0.5595 PTPN4 Bryony Thompson changed review comment from: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
DOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature; to: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
PMID: 34527963 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5595 PTPN4 Bryony Thompson edited their review of gene: PTPN4: Changed publications: 17953619, 25424712, 30238967, 34527963
Mendeliome v1.1320 PTPN4 Bryony Thompson Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033
Mendeliome v1.1319 PTPN4 Bryony Thompson edited their review of gene: PTPN4: Changed publications: 17953619, 25424712, 30238967, 34527963
Mendeliome v1.1319 PTPN4 Bryony Thompson changed review comment from: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
DOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature; to: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
PMID: 34527963 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature
Congenital Heart Defect v0.295 HAND2 Chris McEvoy changed review comment from: Single additional relevant reports detailing associations between HAND2 variants and cardiac defects published since previous review (Jan 2022). No segregation analysis, de nova mutation is large deletion encompassing 3 genes:
PMID: 36427970 Chen et al 2022. Prenatal detection of de novo 17.8Mb deletion of 4q34.1→qter including HAND2, SORBS2 and DUX4. Associated with low pregnancy associated plasma protein-A (PAPP-A) and low placental growth factor (PlGF) in the first-trimester maternal serum screening, congenital heart defect (CHD) on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result.

No pathogenic variants listed in Clinvar apart from p.(Glu67*) - see previously reviewed PMID:30217752.

Insufficient additional evidence to change gene rating from Amber.; to: Single additional relevant report detailing associations between HAND2 variants and cardiac defects published since previous review (Jan 2022). No segregation analysis, de novo mutation is large deletion encompassing 3 genes:
PMID: 36427970 Chen et al 2022. Prenatal detection of de novo 17.8Mb deletion of 4q34.1→qter including HAND2, SORBS2 and DUX4. Associated with low pregnancy associated plasma protein-A (PAPP-A) and low placental growth factor (PlGF) in the first-trimester maternal serum screening, congenital heart defect (CHD) on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result.

No pathogenic variants listed in Clinvar apart from p.(Glu67*) - see previously reviewed PMID:30217752.

Insufficient additional evidence to change gene rating from Amber.
Congenital Heart Defect v0.295 CHD7 Purvi Kakadiya changed review comment from: De novo mutations in chromodomain helicase DNA binding protein 7 (CHD7) are cause CHARGE syndrome (MIM# 214800). The clinical phenotype of CHARGE syndrome is highly variable including a wide spectrum of congenital heart defects.
Thus, mutated CHD7 is associated with heart anomalies and therefore, CHD7 should be examined as part of genetic analysis (NGS gene panel) for congenital heart disease.; to: De novo mutations in chromodomain helicase DNA binding protein 7 (CHD7) are cause of CHARGE syndrome (MIM# 214800). The clinical phenotype of CHARGE syndrome is highly variable including a wide spectrum of congenital heart defects.
Thus, mutated CHD7 is associated with heart anomalies and therefore, CHD7 should be examined as part of genetic analysis (NGS gene panel) for congenital heart defect.
Congenital Heart Defect v0.295 CHD7 Purvi Kakadiya reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31833191, 15300250, 16400610, 16155193, 17334995; Phenotypes: CHARGE syndrome (MIM# 214800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.295 HAND2 Chris McEvoy reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36427970; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1319 ZFHX3 Zornitza Stark Deleted their comment
Mendeliome v1.1319 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related
Mendeliome v1.1318 ZFHX3 Zornitza Stark edited their review of gene: ZFHX3: Added comment: 41 individuals with protein truncating variants (PTVs) or (partial) deletions of ZFHX3. Presentations included (mild) ID and/or behavioural problems, postnatal growth retardation, feeding difficulties, dysmorphism (rarely cleft palate). Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation in neural stem cells and SH-SY5Y cells, ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. ZFHX3 haploinsufficiency associates with a specific DNA methylation profile in leukocyte-derived DNA, and participates in chromatin remodelling and mRNA processing.; Changed publications: 37292950; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related
Intellectual disability syndromic and non-syndromic v0.5595 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related
Intellectual disability syndromic and non-syndromic v0.5594 ZFHX3 Zornitza Stark Publications for gene: ZFHX3 were set to
Mendeliome v1.1318 SMG8 Zornitza Stark Publications for gene: SMG8 were set to PMID: 31130284
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Marked gene: EPHA2 as ready
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Gene: epha2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Classified gene: EPHA2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Gene: epha2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.35 EPHA2 Zornitza Stark gene: EPHA2 was added
gene: EPHA2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review
Mode of inheritance for gene: EPHA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EPHA2 were set to 35918037
Phenotypes for gene: EPHA2 were set to microphthalmia, MONDO:0021129, EPHA2-related
Review for gene: EPHA2 was set to GREEN
Added comment: Variants in this gene are responsible for multiple eye phenotypes including microphthalmia, reviewed in PMID 35918037
Sources: Expert Review
Cataract v0.360 EPHA2 Zornitza Stark Marked gene: EPHA2 as ready
Cataract v0.360 EPHA2 Zornitza Stark Gene: epha2 has been classified as Green List (High Evidence).
Cataract v0.360 EPHA2 Zornitza Stark Phenotypes for gene: EPHA2 were changed from to Cataract 6, multiple types, MIM# 116600
Cataract v0.359 EPHA2 Zornitza Stark Publications for gene: EPHA2 were set to
Cataract v0.358 EPHA2 Zornitza Stark Mode of inheritance for gene: EPHA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.357 EPHA2 Zornitza Stark reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19005574, 19649315, 19306328, 33671840, 35918037, 34638995; Phenotypes: Cataract 6, multiple types, MIM# 116600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1317 EPHA2 Zornitza Stark Publications for gene: EPHA2 were set to 19005574; 19649315; 19306328; 33671840
Mendeliome v1.1316 EPHA2 Zornitza Stark Phenotypes for gene: EPHA2 were changed from cataract 6 multiple types MONDO:0007288 to cataract 6 multiple types MONDO:0007288; microphthalmia, MONDO:0021129, EPHA2-related
Mendeliome v1.1315 EPHA2 Zornitza Stark Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.108 CBS Zornitza Stark Classified gene: CBS as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.108 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.107 CBS Zornitza Stark edited their review of gene: CBS: Added comment: Upgraded to Green following reassessment of mapping issues on WGS vs ES.; Changed rating: GREEN
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Marked gene: COG3 as ready
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Gene: cog3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Classified gene: COG3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Gene: cog3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.38 COG3 Zornitza Stark gene: COG3 was added
gene: COG3 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to 37711075
Phenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, MIM# 620546
Review for gene: COG3 was set to AMBER
Added comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5593 COG3 Zornitza Stark Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546
Intellectual disability syndromic and non-syndromic v0.5592 COG3 Zornitza Stark reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1944 COG3 Zornitza Stark Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546
Genetic Epilepsy v0.1943 COG3 Zornitza Stark reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.236 COG3 Zornitza Stark Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546
Microcephaly v1.235 COG3 Zornitza Stark reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1314 COG3 Zornitza Stark Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546
Mendeliome v1.1313 COG3 Zornitza Stark reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.159 ADAMTS15 Zornitza Stark Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545
Fetal anomalies v1.158 ADAMTS15 Zornitza Stark edited their review of gene: ADAMTS15: Changed phenotypes: Arthrogryposis, distal, type 12, MIM# 620545
Mendeliome v1.1313 ADAMTS15 Zornitza Stark Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545
Mendeliome v1.1312 ADAMTS15 Zornitza Stark reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 12, MIM# 620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.402 ADAMTS15 Zornitza Stark Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545
Arthrogryposis v0.401 ADAMTS15 Zornitza Stark reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 12, MIM# 620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v1.8 DNAJB2 Elena Savva Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Mendeliome v1.1312 DNAJB2 Elena Savva Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; MONDO:0014866 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Mendeliome v1.1311 DNAJB2 Lauren Rogers reviewed gene: DNAJB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881); Mode of inheritance: None
Motor Neurone Disease v1.7 DNAJB2 Lauren Rogers reviewed gene: DNAJB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881); Mode of inheritance: None
Mendeliome v1.1311 EGF Zornitza Stark commented on gene: EGF: LIMITED by ClinGen.
Renal Tubulopathies and related disorders v1.9 EGF Zornitza Stark Marked gene: EGF as ready
Renal Tubulopathies and related disorders v1.9 EGF Zornitza Stark Added comment: Comment when marking as ready: LIMITED by ClinGen.
Renal Tubulopathies and related disorders v1.9 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Mendeliome v1.1311 EPHA2 Sarah Leigh reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33671840, 35918037; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1311 SMG8 Sarah Leigh reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34761517; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.1311 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528; Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538
Mendeliome v1.1310 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related, Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528, Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538
Cerebral Palsy v1.191 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5; OMIM #613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related to Developmental and epileptic encephalopathy 5; OMIM #613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538
Cerebral Palsy v1.190 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v1.71 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Spastic Paraplegia MONDO:0019064, SPTAN1-related to Spastic Paraplegia MONDO:0019064, SPTAN1-related; Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538
Hereditary Spastic Paraplegia v1.70 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1310 COQ7 Zornitza Stark Phenotypes for gene: COQ7 were changed from Coenzyme Q10 deficiency, primary, 8 MIM#616733 to Coenzyme Q10 deficiency, primary, 8 MIM#616733; Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
Mendeliome v1.1309 COQ7 Zornitza Stark Publications for gene: COQ7 were set to 26084283; 31240163; 33215859; 28409910
Mendeliome v1.1308 COQ7 Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36758993, 36759155; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.4 COQ7 Zornitza Stark Phenotypes for gene: COQ7 were changed from Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894) to Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
Hereditary Neuropathy v1.3 COQ7 Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5592 ZFHX3 Chirag Patel Classified gene: ZFHX3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5592 ZFHX3 Chirag Patel Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v1.1308 ZFHX3 Chirag Patel Classified gene: ZFHX3 as Green List (high evidence)
Mendeliome v1.1308 ZFHX3 Chirag Patel Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v1.1307 ZFHX3 Chirag Patel Classified gene: ZFHX3 as Green List (high evidence)
Mendeliome v1.1307 ZFHX3 Chirag Patel Gene: zfhx3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5591 ZFHX3 Chirag Patel edited their review of gene: ZFHX3: Added comment: 41 patients with protein truncating variants (PTVs) or (partial) deletions of ZFHX3. Presentations included (mild) ID and/or behavioural problems, postnatal growth retardation, feeding difficulties, dysmorphism (rarely cleft palate). Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation in neural stem cells and SH-SY5Y cells, ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. ZFHX3 haploinsufficiency associates with a specific DNA methylation profile in leukocyte-derived DNA, and participates in chromatin remodelling and mRNA processing.; Changed rating: GREEN; Changed publications: PMID: 37292950; Changed phenotypes: Neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Mendeliome v1.1306 ZFHX3 Chirag Patel reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37292950; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v1.158 KDM2B Ain Roesley edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related
Intellectual disability syndromic and non-syndromic v0.5591 KDM2B Ain Roesley edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related
Mendeliome v1.1306 KDM2B Ain Roesley edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related
Congenital Heart Defect v0.295 KDM2B Ain Roesley edited their review of gene: KDM2B: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related
Intellectual disability syndromic and non-syndromic v0.5591 KDM2B Ain Roesley Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related
Mendeliome v1.1306 KDM2B Ain Roesley Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related
Fetal anomalies v1.158 KDM2B Ain Roesley Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related
Congenital Heart Defect v0.295 KDM2B Ain Roesley Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#070009, KDM2B-related to neurodevelopmental disorder MONDO#0700092, KDM2B-related
Mendeliome v1.1305 FAM83G Zornitza Stark Phenotypes for gene: FAM83G were changed from Palmoplantar keratoderma, curly scalp hair and toenail dystrophy to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Mendeliome v1.1304 FAM83G Zornitza Stark edited their review of gene: FAM83G: Changed phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Palmoplantar Keratoderma and Erythrokeratoderma v0.130 FAM83G Zornitza Stark Phenotypes for gene: FAM83G were changed from Palmoplantar keratoderma, curly scalp hair and toenail dystrophy to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Palmoplantar Keratoderma and Erythrokeratoderma v0.129 FAM83G Zornitza Stark reviewed gene: FAM83G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1304 FAAP24 Zornitza Stark Phenotypes for gene: FAAP24 were changed from EBV infection-driven lymphoproliferative disease to Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
Mendeliome v1.1303 FAAP24 Zornitza Stark edited their review of gene: FAAP24: Changed phenotypes: Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
Disorders of immune dysregulation v0.183 FAAP24 Zornitza Stark Phenotypes for gene: FAAP24 were changed from EBV infection-driven lymphoproliferative disease to Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
Disorders of immune dysregulation v0.182 FAAP24 Zornitza Stark edited their review of gene: FAAP24: Changed phenotypes: Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
Combined Immunodeficiency v1.50 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Combined Immunodeficiency v1.50 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.50 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Hypogammaglobulinaemia to Nijmegen breakage syndrome-like disorder, MIM# 613078; Hypogammaglobulinaemia
Combined Immunodeficiency v1.49 RAD50 Zornitza Stark Classified gene: RAD50 as Green List (high evidence)
Combined Immunodeficiency v1.49 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5590 ZNF148 Zornitza Stark Marked gene: ZNF148 as ready
Intellectual disability syndromic and non-syndromic v0.5590 ZNF148 Zornitza Stark Gene: znf148 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5590 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Intellectual disability syndromic and non-syndromic v0.5590 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5590 B4GALNT1 Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195)
Intellectual disability syndromic and non-syndromic v0.5589 B4GALNT1 Zornitza Stark Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5588 B4GALNT1 Zornitza Stark reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5588 AUH Zornitza Stark Marked gene: AUH as ready
Intellectual disability syndromic and non-syndromic v0.5588 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5588 AUH Zornitza Stark Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Intellectual disability syndromic and non-syndromic v0.5587 AUH Zornitza Stark Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5586 AUH Zornitza Stark reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5586 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Intellectual disability syndromic and non-syndromic v0.5586 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5586 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Intellectual disability syndromic and non-syndromic v0.5585 ATP6V0A2 Zornitza Stark Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5584 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5584 ATR Zornitza Stark Marked gene: ATR as ready
Intellectual disability syndromic and non-syndromic v0.5584 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5584 ATR Zornitza Stark Phenotypes for gene: ATR were changed from to Seckel syndrome 1, MIM# 210600
Intellectual disability syndromic and non-syndromic v0.5583 ATR Zornitza Stark Mode of inheritance for gene: ATR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5582 ATR Zornitza Stark reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5582 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Intellectual disability syndromic and non-syndromic v0.5582 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5582 ATP6V1B2 Zornitza Stark Phenotypes for gene: ATP6V1B2 were changed from to Zimmermann-Laband syndrome 2, MIM# 616455
Intellectual disability syndromic and non-syndromic v0.5581 ATP6V1B2 Zornitza Stark Mode of inheritance for gene: ATP6V1B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5580 ATP6V1B2 Zornitza Stark reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5580 ATP6AP2 Zornitza Stark Marked gene: ATP6AP2 as ready
Intellectual disability syndromic and non-syndromic v0.5580 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5580 ATP6AP2 Zornitza Stark Phenotypes for gene: ATP6AP2 were changed from to Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Intellectual disability syndromic and non-syndromic v0.5579 ATP6AP2 Zornitza Stark Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5578 ATP6AP2 Zornitza Stark commented on gene: ATP6AP2: These two conditions likely represent a spectrum of severity for a single disorder. ID is a feature of both.
Combined Immunodeficiency v1.48 RAD50 Peter McNaughton gene: RAD50 was added
gene: RAD50 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to PMID: 37794136
Phenotypes for gene: RAD50 were set to Hypogammaglobulinaemia
Review for gene: RAD50 was set to GREEN
Added comment: In addition to the clinical characteristics of growth retardation, microcephaly, fetal growth restriction and skin manifestations patients develop immune deficiency with variable penetrance characterised by hypogammaglobulinaemia, low naïve T cells and low B cells with low or undetectable κ-deleting recombination excision circles similar to the immune deficiency seen in AT and NBS.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5578 ATP6AP2 Zornitza Stark reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.1303 IL23R Zornitza Stark Phenotypes for gene: IL23R were changed from Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related
Mendeliome v1.1302 IL23R Zornitza Stark Publications for gene: IL23R were set to 30578351; 35829840
Mendeliome v1.1301 IL23R Zornitza Stark Classified gene: IL23R as Green List (high evidence)
Mendeliome v1.1301 IL23R Zornitza Stark Gene: il23r has been classified as Green List (High Evidence).
Mendeliome v1.1300 IL23R Zornitza Stark edited their review of gene: IL23R: Added comment: PMID 36763636: Six individuals from four unrelated Iranian kindreds with AR complete IL-23R deficiency presenting MSMD with complete penetrance. Also some patients with susceptibility to CMC with incomplete penetrance.; Changed rating: GREEN; Changed publications: 30578351, 35829840, 36763636; Changed phenotypes: Immunodeficiency disease, MONDO:0021094, Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related
Mendeliome v1.1300 IRF1 Zornitza Stark Phenotypes for gene: IRF1 were changed from to Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related
Mendeliome v1.1299 IRF1 Zornitza Stark Publications for gene: IRF1 were set to
Mendeliome v1.1298 IRF1 Zornitza Stark Mode of inheritance for gene: IRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1297 IRF1 Zornitza Stark Classified gene: IRF1 as Green List (high evidence)
Mendeliome v1.1297 IRF1 Zornitza Stark Gene: irf1 has been classified as Green List (High Evidence).
Mendeliome v1.1296 IRF1 Zornitza Stark edited their review of gene: IRF1: Added comment: PMID 36736301: Two unrelated children with recurrent early-onset life-threatening mycobacterial diseases due to multiple mycobacteria (BCG, M. avium). Homozygous LoF vairiants with extensive supporting functional data.; Changed rating: GREEN; Changed publications: 36736301; Changed phenotypes: Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1296 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724; Combined immunodeficiency to Combined immunodeficiency, MONDO:0015131, IRF4-related
Mendeliome v1.1295 IRF4 Zornitza Stark Publications for gene: IRF4 were set to 29537367; 29408330
Mendeliome v1.1294 IRF4 Zornitza Stark Classified gene: IRF4 as Green List (high evidence)
Mendeliome v1.1294 IRF4 Zornitza Stark Gene: irf4 has been classified as Green List (High Evidence).
Mendeliome v1.1293 IRF4 Zornitza Stark edited their review of gene: IRF4: Added comment: PMID 36662884: Seven individuals with profound CID from six kindreds of diverse ethnic origins (Fig. 1A). All affected individuals suffered with early onset (<1 year of age) recurrent sinopulmonary infections, with the opportunistic pathogen Pneumocystis jirovecii causing pneumonia in most individuals. p.T95R variant found in all patients. Extensive functional data including knockout mouse model. The heterozygous IRF4T95R variant found in multiple unrelated families caused a fully penetrant, severe very early-onset immunodeficiency characterized by greatly enhanced susceptibility to opportunistic pathogens such as P. jirovecii and weakly pathogenic mycobacteria.; Changed rating: GREEN; Changed publications: 29537367, 36662884; Changed phenotypes: Combined immunodeficiency, MONDO:0015131, IRF4-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v1.48 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from Combined immunodeficiency to Combined immunodeficiency, MONDO:0015131, IRF4-related
Combined Immunodeficiency v1.47 IRF4 Zornitza Stark Publications for gene: IRF4 were set to 29408330
Combined Immunodeficiency v1.46 IRF4 Zornitza Stark Mode of inheritance for gene: IRF4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v1.45 IRF4 Zornitza Stark Classified gene: IRF4 as Green List (high evidence)
Combined Immunodeficiency v1.45 IRF4 Zornitza Stark Gene: irf4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.321 MCM9 Zornitza Stark Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, MIM#616185 to Ovarian dysgenesis 4, MIM#616185; Hereditary neoplastic syndrome MONDO:0015356
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.320 MCM9 Zornitza Stark Publications for gene: MCM9 were set to 25480036; 26771056; 33538981; 33095795
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 MCM9 Zornitza Stark edited their review of gene: MCM9: Changed publications: 25480036, 26771056, 33538981, 33095795, 26806154, 34556653, 32841224, 32613604, 37378315; Changed phenotypes: Ovarian dysgenesis 4, MIM# 616185, Hereditary neoplastic syndrome MONDO:0015356
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 MCM9 Zornitza Stark commented on gene: MCM9: Please note emerging link with Lynch-like syndrome: PMIDs 26806154; 34556653; 32841224; 32613604; 37378315
Mendeliome v1.1293 MCM9 Zornitza Stark Publications for gene: MCM9 were set to 25480036; 26771056; 33538981; 33095795
Mendeliome v1.1292 MCM9 Zornitza Stark Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, MIM# 616185 to Ovarian dysgenesis 4, MIM# 616185; Hereditary neoplastic syndrome MONDO:0015356
Hair disorders v0.69 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Hair disorders v0.69 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Hair disorders v0.69 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Hair disorders v0.69 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.127 CR2 Zornitza Stark Publications for gene: CR2 were set to 22035880; 26325596
Predominantly Antibody Deficiency v0.126 CR2 Zornitza Stark Classified gene: CR2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.126 CR2 Zornitza Stark Gene: cr2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.125 CR2 Zornitza Stark edited their review of gene: CR2: Added comment: PMID:28499783 reported two siblings from consanguineous parents, both with a homozygous frameshift variant in CR2 and with recurrent respiratory infections and hypogammaglobulinemia.; Changed rating: GREEN; Changed publications: 22035880, 26325596, 28499783
Mendeliome v1.1291 CR2 Zornitza Stark Publications for gene: CR2 were set to 22035880; 26325596
Mendeliome v1.1290 CR2 Zornitza Stark Classified gene: CR2 as Green List (high evidence)
Mendeliome v1.1290 CR2 Zornitza Stark Gene: cr2 has been classified as Green List (High Evidence).
Mendeliome v1.1289 CR2 Zornitza Stark edited their review of gene: CR2: Added comment: PMID:28499783 reported two siblings from consanguineous parents, both with a homozygous frameshift variant in CR2 and with recurrent respiratory infections and hypogammaglobulinaemia.; Changed rating: GREEN; Changed publications: 22035880, 26325596, 28499783
Mendeliome v1.1289 HMOX1 Zornitza Stark Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Mendeliome v1.1288 HMOX1 Zornitza Stark Classified gene: HMOX1 as Green List (high evidence)
Mendeliome v1.1288 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Green List (High Evidence).
Mendeliome v1.1287 HMOX1 Zornitza Stark edited their review of gene: HMOX1: Added comment: PMID:33066778 provides a third case in support of promoting HMOX1 to green rating. This third case is a boy born to nonconsanguineous parents who presented with early onset asplenia, recurrent infections, and associated flares with bone marrow histiocyte activation with worsening interstitial lung disease and joint pain. This boy harboured compound heterozygous variants (p.L89Sfs*24 and p.Ala88Profs*51).; Changed rating: GREEN; Changed publications: 21088618, 9884342, 20844238, 33066778
Defects of intrinsic and innate immunity v0.132 HMOX1 Zornitza Stark Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Defects of intrinsic and innate immunity v0.131 HMOX1 Zornitza Stark Classified gene: HMOX1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.131 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Green List (High Evidence).
Mendeliome v1.1287 HYOU1 Zornitza Stark Classified gene: HYOU1 as Green List (high evidence)
Mendeliome v1.1287 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Green List (High Evidence).
Mendeliome v1.1286 HYOU1 Zornitza Stark changed review comment from: PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anemia, thrombocytopenia and severe panleukopenia and immunodeficiency.; to: PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anaemia, thrombocytopenia and severe panleukopenia and immunodeficiency.
Mendeliome v1.1286 HYOU1 Zornitza Stark edited their review of gene: HYOU1: Added comment: PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anemia, thrombocytopenia and severe panleukopenia and immunodeficiency.; Changed rating: GREEN; Changed publications: 27913302, 35822684, 35549617
Phagocyte Defects v1.19 HYOU1 Zornitza Stark Classified gene: HYOU1 as Green List (high evidence)
Phagocyte Defects v1.19 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5578 KCNH5 Zornitza Stark Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537
Intellectual disability syndromic and non-syndromic v0.5577 KCNH5 Zornitza Stark Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1
Intellectual disability syndromic and non-syndromic v0.5576 KCNH5 Zornitza Stark reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1943 KCNH5 Zornitza Stark Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537
Genetic Epilepsy v0.1942 KCNH5 Zornitza Stark Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1
Genetic Epilepsy v0.1941 KCNH5 Zornitza Stark reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1286 KCNH5 Zornitza Stark edited their review of gene: KCNH5: Changed phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537
Mendeliome v1.1286 KCNH5 Zornitza Stark reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1286 KCNH5 Zornitza Stark Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537
Hereditary Spastic Paraplegia v1.70 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia, dominant to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Hereditary Spastic Paraplegia v1.69 ERLIN2 Zornitza Stark edited their review of gene: ERLIN2: Changed phenotypes: Spastic paraplegia 18, autosomal recessive, MIM# 611225, Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Mendeliome v1.1285 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from hereditary spastic paraplegia 18 MONDO:0012639; Spastic paraplegia 18A, autosomal dominant, MIM# 620512 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Mendeliome v1.1284 ERLIN2 Zornitza Stark edited their review of gene: ERLIN2: Changed phenotypes: Spastic paraplegia 18, autosomal recessive, MIM# 611225, Spastic paraplegia 18A, autosomal dominant, MIM# 620512; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1284 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from hereditary spastic paraplegia 18 MONDO:0012639 to hereditary spastic paraplegia 18 MONDO:0012639; Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Mendeliome v1.1283 ERLIN2 Zornitza Stark reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 18A, autosomal dominant, MIM# 620512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v1.18 HYOU1 Achchuthan Shanmugasundram reviewed gene: HYOU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35549617; Phenotypes: ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.130 HMOX1 Achchuthan Shanmugasundram reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33066778; Phenotypes: Heme oxygenase-1 deficiency, OMIM:614034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.68 MBTPS2 Kaitlyn Dianna Weldon gene: MBTPS2 was added
gene: MBTPS2 was added to Hair disorders. Sources: Other
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 21600032
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MONDO:0100213
Penetrance for gene: MBTPS2 were set to unknown
Review for gene: MBTPS2 was set to GREEN
Added comment: This is a well established hair disorder gene.
Sources: Other
Mendeliome v1.1283 MCM9 Natalie Tan changed review comment from: Emerging association in individuals with biallelic variants of a combined phenotype of primary ovarian insufficiency and a Lynch-like syndrome/early-onset colorectal cancer (PMID: 26806154, 34556653). Monoallelic carriers have also been reported with a Lynch-like syndrome (32841224). Association of primary ovarian insufficiency with other malignancies is less clear (32613604, 34556653). See PMID 37378315 for review of literature to April 2023.; to: Emerging association in individuals with biallelic variants of a combined phenotype of primary ovarian insufficiency and a Lynch-like syndrome/early-onset colorectal cancer (PMID: 26806154, 34556653). Monoallelic carriers have also been reported with a Lynch-like syndrome (32841224). Association of primary ovarian insufficiency with other malignancies is less clear (32613604, 34556653). See PMID 37378315 for review of literature to April 2023.
Mendeliome v1.1283 MCM9 Natalie Tan reviewed gene: MCM9: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 26806154, 34556653, 32841224, 32613604, 37378315); Phenotypes: Primary ovarian insufficiency, Lynch-like syndrome/colorectal cancer; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Combined Immunodeficiency v1.44 IRF4 Peter McNaughton reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36662884; Phenotypes: Combined Immune deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy v0.297 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Intellectual disability syndromic and non-syndromic v0.5576 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Callosome v0.506 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Genetic Epilepsy v0.1941 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Mendeliome v1.1283 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, U2AF2-related to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Mendeliome v1.1282 EYA3 Zornitza Stark Phenotypes for gene: EYA3 were changed from Oculo-auriculo-vertebral spectrum (OAVS) to Oculo-auriculo-vertebral spectrum (OAVS), MONDO:0015397, EYA3-related
Intellectual disability syndromic and non-syndromic v0.5575 ETS1 Zornitza Stark Phenotypes for gene: ETS1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ETS1-related
Intellectual disability syndromic and non-syndromic v0.5574 ETS1 Zornitza Stark edited their review of gene: ETS1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ETS1-related
Mendeliome v1.1281 ETS1 Zornitza Stark Phenotypes for gene: ETS1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ETS1-related
Mendeliome v1.1280 ETS1 Zornitza Stark edited their review of gene: ETS1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ETS1-related
Combined Immunodeficiency v1.44 ERBIN Zornitza Stark Phenotypes for gene: ERBIN were changed from Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some to Combined immunodeficiency, MONDO:0015131, ERBIN-related; Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
Combined Immunodeficiency v1.43 ERBIN Zornitza Stark edited their review of gene: ERBIN: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, ERBIN-related, Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some
Mendeliome v1.1280 ERBIN Zornitza Stark Phenotypes for gene: ERBIN were changed from Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some to Combined immunodeficiency, MONDO:0015131, ERBIN-related; Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
Mendeliome v1.1279 ERBIN Zornitza Stark edited their review of gene: ERBIN: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, ERBIN-related, Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some
Monogenic Diabetes v0.41 EPHX1 Zornitza Stark Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Monogenic Diabetes v0.40 EPHX1 Zornitza Stark edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Mendeliome v1.1279 EPHX1 Zornitza Stark Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Mendeliome v1.1278 EPHX1 Zornitza Stark edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Lipodystrophy_Lipoatrophy v1.9 EPHX1 Zornitza Stark Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Lipodystrophy_Lipoatrophy v1.8 EPHX1 Zornitza Stark edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Intellectual disability syndromic and non-syndromic v0.5574 EPHA7 Zornitza Stark Phenotypes for gene: EPHA7 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,EPHA7-related
Intellectual disability syndromic and non-syndromic v0.5573 EPHA7 Zornitza Stark edited their review of gene: EPHA7: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,EPHA7-related
Mendeliome v1.1278 EPHA7 Zornitza Stark Phenotypes for gene: EPHA7 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,EPHA7-related
Mendeliome v1.1277 EPHA7 Zornitza Stark edited their review of gene: EPHA7: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,EPHA7-related
Polymicrogyria and Schizencephaly v0.188 EOMES Zornitza Stark Phenotypes for gene: EOMES were changed from Microcephaly to Microcephaly, MONDO:0001149, EOMES-related
Polymicrogyria and Schizencephaly v0.187 EOMES Zornitza Stark edited their review of gene: EOMES: Changed phenotypes: Microcephaly, MONDO:0001149, EOMES-related
Mendeliome v1.1277 EOMES Zornitza Stark Phenotypes for gene: EOMES were changed from Microcephaly to Microcephaly, MONDO:0001149, EOMES-related
Mendeliome v1.1276 EOMES Zornitza Stark edited their review of gene: EOMES: Changed phenotypes: Microcephaly, MONDO:0001149, EOMES-related
Fetal anomalies v1.157 ENO1 Zornitza Stark Phenotypes for gene: ENO1 were changed from Polymicrogyria; microcephaly to Polymicrogyria, MONDO:0000087, ENO1-related
Mendeliome v1.1276 ENO1 Zornitza Stark Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087, ENO1-related
Polymicrogyria and Schizencephaly v0.187 ENO1 Zornitza Stark Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087, ENO1-related
Intellectual disability syndromic and non-syndromic v0.5573 ELMOD1 Zornitza Stark Phenotypes for gene: ELMOD1 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,ELMOD1-related
Intellectual disability syndromic and non-syndromic v0.5572 ELMOD1 Zornitza Stark edited their review of gene: ELMOD1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,ELMOD1-related
Mendeliome v1.1275 ELMOD1 Zornitza Stark Phenotypes for gene: ELMOD1 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,ELMOD1-related
Mendeliome v1.1274 ELMOD1 Zornitza Stark edited their review of gene: ELMOD1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,ELMOD1-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 EIF4ENIF1 Zornitza Stark Marked gene: EIF4ENIF1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 EIF4ENIF1 Zornitza Stark Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 EIF4ENIF1 Zornitza Stark Phenotypes for gene: EIF4ENIF1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related
Mendeliome v1.1274 EIF4ENIF1 Zornitza Stark Phenotypes for gene: EIF4ENIF1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related
Mendeliome v1.1273 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis to Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related
Hydrops fetalis v0.303 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis to Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related
Intellectual disability syndromic and non-syndromic v0.5572 EEF1D Zornitza Stark Phenotypes for gene: EEF1D were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092, EEF1D-related
Intellectual disability syndromic and non-syndromic v0.5571 EEF1D Zornitza Stark edited their review of gene: EEF1D: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, EEF1D-related
Mendeliome v1.1272 EEF1D Zornitza Stark Phenotypes for gene: EEF1D were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092, EEF1D-related
Mendeliome v1.1271 EEF1D Zornitza Stark edited their review of gene: EEF1D: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, EEF1D-related
Fetal anomalies v1.156 DYNC1I1 Zornitza Stark Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
Hand and foot malformations v0.72 DYNC1I1 Zornitza Stark Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
Mendeliome v1.1271 DYNC1I1 Zornitza Stark Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
Intellectual disability syndromic and non-syndromic v0.5571 DSCR3 Zornitza Stark Phenotypes for gene: DSCR3 were changed from Intellectual disability, no OMIM # yet to Neurodevelopmental disorder (MONDO:0700092), DSCR3-related
Mendeliome v1.1270 DSCR3 Zornitza Stark Phenotypes for gene: DSCR3 were changed from Intellectual disability, no OMIM # yet to Neurodevelopmental disorder (MONDO:0700092), DSCR3-related
Mendeliome v1.1269 DSCR3 Zornitza Stark edited their review of gene: DSCR3: Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), DSCR3-related
Genetic Epilepsy v0.1940 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Genetic Epilepsy v0.1940 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1940 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750
Genetic Epilepsy v0.1939 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Genetic Epilepsy v0.1938 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1937 COG7 Zornitza Stark Marked gene: COG7 as ready
Genetic Epilepsy v0.1937 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1937 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Genetic Epilepsy v0.1936 COG7 Zornitza Stark Publications for gene: COG7 were set to
Genetic Epilepsy v0.1935 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1934 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Genetic Epilepsy v0.1934 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1934 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Genetic Epilepsy v0.1933 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Genetic Epilepsy v0.1932 CNTNAP2 Zornitza Stark Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.182 STAT6 Zornitza Stark Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
Disorders of immune dysregulation v0.181 STAT6 Zornitza Stark Publications for gene: STAT6 were set to PMID: 36216080
Disorders of immune dysregulation v0.180 STAT6 Zornitza Stark reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1269 STAT6 Zornitza Stark Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
Mendeliome v1.1268 STAT6 Zornitza Stark edited their review of gene: STAT6: Changed phenotypes: Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
Intellectual disability syndromic and non-syndromic v0.5570 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Intellectual disability syndromic and non-syndromic v0.5570 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5570 ATP13A2 Zornitza Stark Phenotypes for gene: ATP13A2 were changed from to Kufor-Rakeb syndrome, MIM# 606693
Intellectual disability syndromic and non-syndromic v0.5569 ATP13A2 Zornitza Stark Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5568 ATP13A2 Zornitza Stark Classified gene: ATP13A2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5568 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5567 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5567 BRAF Zornitza Stark Marked gene: BRAF as ready
Intellectual disability syndromic and non-syndromic v0.5567 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5567 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome (MIM# 115150); Noonan syndrome (MIM# 613706); LEOPARD syndrome (MIM# 613707)
Intellectual disability syndromic and non-syndromic v0.5566 BRAF Zornitza Stark Publications for gene: BRAF were set to
Intellectual disability syndromic and non-syndromic v0.5565 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF 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
Intellectual disability syndromic and non-syndromic v0.5564 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5563 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Intellectual disability syndromic and non-syndromic v0.5563 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5563 SMARCA4 Zornitza Stark Phenotypes for gene: SMARCA4 were changed from to Coffin-Siris syndrome 4 (MIM# 614609)
Intellectual disability syndromic and non-syndromic v0.5562 SMARCA4 Zornitza Stark Publications for gene: SMARCA4 were set to
Intellectual disability syndromic and non-syndromic v0.5561 SMARCA4 Zornitza Stark Mode of pathogenicity for gene: SMARCA4 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
Intellectual disability syndromic and non-syndromic v0.5560 SMARCA4 Zornitza Stark Mode of inheritance for gene: SMARCA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5559 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Intellectual disability syndromic and non-syndromic v0.5559 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5559 SMC3 Zornitza Stark Phenotypes for gene: SMC3 were changed from to Cornelia de Lange syndrome 3 MONDO:0012555
Intellectual disability syndromic and non-syndromic v0.5558 SMC3 Zornitza Stark Publications for gene: SMC3 were set to
Intellectual disability syndromic and non-syndromic v0.5557 SMC3 Zornitza Stark Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5556 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Intellectual disability syndromic and non-syndromic v0.5556 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5556 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2 MONDO:0010370
Intellectual disability syndromic and non-syndromic v0.5555 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Intellectual disability syndromic and non-syndromic v0.5554 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5553 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Intellectual disability syndromic and non-syndromic v0.5553 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5553 SMARCB1 Zornitza Stark Phenotypes for gene: SMARCB1 were changed from to Coffin-Siris syndrome 3 (MIM# 614608); MONDO:0015452
Intellectual disability syndromic and non-syndromic v0.5552 SMARCB1 Zornitza Stark Publications for gene: SMARCB1 were set to
Intellectual disability syndromic and non-syndromic v0.5551 SMARCB1 Zornitza Stark Mode of pathogenicity for gene: SMARCB1 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
Intellectual disability syndromic and non-syndromic v0.5550 SMARCB1 Zornitza Stark Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1268 SRP68 Zornitza Stark Marked gene: SRP68 as ready
Mendeliome v1.1268 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1268 SRP68 Zornitza Stark Classified gene: SRP68 as Amber List (moderate evidence)
Mendeliome v1.1268 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1267 SRP68 Zornitza Stark gene: SRP68 was added
gene: SRP68 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRP68 were set to 32273475
Phenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534
Review for gene: SRP68 was set to AMBER
Added comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided.
Sources: Expert list
Phagocyte Defects v1.18 SRP68 Zornitza Stark Marked gene: SRP68 as ready
Phagocyte Defects v1.18 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.18 SRP68 Zornitza Stark Classified gene: SRP68 as Amber List (moderate evidence)
Phagocyte Defects v1.18 SRP68 Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.17 SRP68 Zornitza Stark gene: SRP68 was added
gene: SRP68 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRP68 were set to 32273475
Phenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534
Review for gene: SRP68 was set to AMBER
Added comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5549 SMARCB1 Kaitlyn Dianna Weldon reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23556151; Phenotypes: Coffin-Siris syndrome MONDO:0015452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5549 SMC1A Kaitlyn Dianna Weldon reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301283; Phenotypes: Cornelia de Lange syndrome 2 MONDO:0010370; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5549 SMC3 Kaitlyn Dianna Weldon reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301283; Phenotypes: Cornelia de Lange syndrome 3 MONDO:0012555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5549 SMARCB1 Claire Fryer-Smith reviewed gene: SMARCB1: 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: 22426308, 29907796, 3175698; Phenotypes: Coffin-Siris syndrome 3 (MIM# 614608); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5549 SMARCA4 Claire Fryer-Smith changed review comment from: Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges.

Missense and an in-frame deletion in SCARCA4 have been observed across 15 CSS patients in the literature (22426308, 23637025, 23929686), suggesting a dominant negative GoF effect.

LoF variants in SMARCA4 result in Rhabdoid tumor predisposition syndrome, which does not exhibit ID.; to: Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges.

Missense and an in-frame deletion in SMARCA4 have been observed across 15 CSS patients in the literature (22426308, 23637025, 23929686), suggesting a dominant negative GoF effect.

LoF variants in SMARCA4 result in Rhabdoid tumor predisposition syndrome, which does not exhibit ID.
Intellectual disability syndromic and non-syndromic v0.5549 SMARCA4 Claire Fryer-Smith reviewed gene: SMARCA4: 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: 22426308, 23929686, 23637025; Phenotypes: Coffin-Siris syndrome 4 (MIM# 614609); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5549 BRAF Claire Fryer-Smith reviewed gene: BRAF: 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: 10610177, 16474404, 19206169; Phenotypes: Cardiofaciocutaneous syndrome (MIM# 115150), Noonan syndrome (MIM# 613706), LEOPARD syndrome (MIM# 613707); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5549 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Intellectual disability syndromic and non-syndromic v0.5549 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5549 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to developmental and epileptic encephalopathy, 4 MONDO:0012812
Intellectual disability syndromic and non-syndromic v0.5548 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Intellectual disability syndromic and non-syndromic v0.5547 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5546 FH Zornitza Stark Marked gene: FH as ready
Intellectual disability syndromic and non-syndromic v0.5546 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5546 FH Zornitza Stark Phenotypes for gene: FH were changed from to Fumarase deficiency (MIM# 606812)
Intellectual disability syndromic and non-syndromic v0.5545 FH Zornitza Stark Publications for gene: FH were set to
Intellectual disability syndromic and non-syndromic v0.5544 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5543 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Intellectual disability syndromic and non-syndromic v0.5543 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5543 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
Intellectual disability syndromic and non-syndromic v0.5542 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Intellectual disability syndromic and non-syndromic v0.5541 FH Claire Fryer-Smith reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31746132, 29052812, 21560188; Phenotypes: Fumarase deficiency (MIM# 606812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5541 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5540 TMEM70 Zornitza Stark reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5540 TMEM240 Zornitza Stark Marked gene: TMEM240 as ready
Intellectual disability syndromic and non-syndromic v0.5540 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5540 TMEM240 Zornitza Stark Publications for gene: TMEM240 were set to
Intellectual disability syndromic and non-syndromic v0.5539 TMEM240 Zornitza Stark Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, MIM# 607454; spinocerebellar ataxia type 21 MONDO:0011833
Intellectual disability syndromic and non-syndromic v0.5538 TMEM240 Zornitza Stark Mode of inheritance for gene: TMEM240 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5537 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Intellectual disability syndromic and non-syndromic v0.5537 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5537 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2 MONDO:0011963
Intellectual disability syndromic and non-syndromic v0.5536 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Intellectual disability syndromic and non-syndromic v0.5535 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5534 TMCO1 Zornitza Stark Marked gene: TMCO1 as ready
Intellectual disability syndromic and non-syndromic v0.5534 TMCO1 Zornitza Stark Gene: tmco1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5534 TMCO1 Zornitza Stark Phenotypes for gene: TMCO1 were changed from to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980; cerebrofaciothoracic dysplasia MONDO:0008952
Intellectual disability syndromic and non-syndromic v0.5533 TMCO1 Zornitza Stark Publications for gene: TMCO1 were set to
Intellectual disability syndromic and non-syndromic v0.5532 TMCO1 Zornitza Stark Mode of inheritance for gene: TMCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5531 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Intellectual disability syndromic and non-syndromic v0.5531 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5531 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome MONDO:0012589
Intellectual disability syndromic and non-syndromic v0.5530 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Intellectual disability syndromic and non-syndromic v0.5529 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5528 STRA6 Kaitlyn Dianna Weldon reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977; Phenotypes: Matthew-Wood syndrome MONDO:0011010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5528 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Intellectual disability syndromic and non-syndromic v0.5528 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5528 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to Developmental and epileptic encephalopathy 16, MIM# 615338; DOORS syndrome, MIM# 220500
Intellectual disability syndromic and non-syndromic v0.5527 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Intellectual disability syndromic and non-syndromic v0.5526 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5525 TAZ Zornitza Stark Marked gene: TAZ as ready
Intellectual disability syndromic and non-syndromic v0.5525 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5525 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome MONDO:0010543
Intellectual disability syndromic and non-syndromic v0.5524 STXBP1 Kaitlyn Dianna Weldon reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27905812; Phenotypes: developmental and epileptic encephalopathy, 4 MONDO:0012812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5524 TAZ Zornitza Stark Publications for gene: TAZ were set to
Intellectual disability syndromic and non-syndromic v0.5523 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5522 TAT Zornitza Stark Marked gene: TAT as ready
Intellectual disability syndromic and non-syndromic v0.5522 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5522 TAT Zornitza Stark Phenotypes for gene: TAT were changed from to tyrosinemia type II MONDO:0010160
Intellectual disability syndromic and non-syndromic v0.5521 TAT Zornitza Stark Publications for gene: TAT were set to
Intellectual disability syndromic and non-syndromic v0.5520 TAT Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5519 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Intellectual disability syndromic and non-syndromic v0.5519 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5519 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MONDO:0014812
Intellectual disability syndromic and non-syndromic v0.5518 TANGO2 Zornitza Stark Publications for gene: TANGO2 were set to
Intellectual disability syndromic and non-syndromic v0.5517 TANGO2 Zornitza Stark Mode of inheritance for gene: TANGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5516 NF1 Claire Fryer-Smith changed review comment from: NF1 shows a high degree of phenotypic variability. Intellectual disability has been shown to occur in 4%-8% of cases, typically appearing in childhood and persisting through life (PMID: 23931823, 10762507).; to: NF1 shows a high degree of phenotypic variability. Intellectual disability has been shown to occur in 4%-8% of cases, typically appearing in childhood and persisting through life (PMID: 23931823, 10762507).
Intellectual disability syndromic and non-syndromic v0.5516 NF1 Claire Fryer-Smith reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23931823, 10762507; Phenotypes: Neurofibromatosis, type 1 (MIM#162200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5516 SUOX Kaitlyn Dianna Weldon reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 28933809; Phenotypes: isolated sulfite oxidase deficiency MONDO:0010089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Liver Failure_Paediatric v1.22 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Liver Failure_Paediatric v1.22 MTM1 Zornitza Stark Gene: mtm1 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v1.22 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy to Myopathy, centronuclear, X-linked, MIM# 310400
Liver Failure_Paediatric v1.21 MTM1 Zornitza Stark Classified gene: MTM1 as Amber List (moderate evidence)
Liver Failure_Paediatric v1.21 MTM1 Zornitza Stark Gene: mtm1 has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v1.20 MTM1 Zornitza Stark reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5516 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Intellectual disability syndromic and non-syndromic v0.5516 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5516 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339
Intellectual disability syndromic and non-syndromic v0.5515 SYN1 Zornitza Stark Mode of inheritance for gene: SYN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1266 PLS3 Zornitza Stark Phenotypes for gene: PLS3 were changed from Bone mineral density QTL18, osteoporosis - MIM#300910 to Bone mineral density QTL18, osteoporosis - MIM#300910; congenital diaphragmatic hernia MONDO:0005711, PLS3-related
Mendeliome v1.1265 PLS3 Zornitza Stark Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043
Mendeliome v1.1264 PLS3 Zornitza Stark Mode of inheritance for gene: PLS3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5514 SYN1 Kaitlyn Dianna Weldon reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148, epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1263 PLS3 Zornitza Stark edited their review of gene: PLS3: Added comment: PMID 37751738: 8 unrelated families with affected males with an X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.; Changed publications: 32655496, 25209159, 29736964, 29884797, 28777485, 24088043, 37751738; Changed phenotypes: Bone mineral density QTL18, osteoporosis - MIM#300910, congenital diaphragmatic hernia MONDO:0005711, PLS3-related; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Liver Failure_Paediatric v1.20 MTM1 Rylee Peters changed review comment from: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters.
Sources: Literature; to: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters.
Sources: Literature
Mendeliome v1.1263 EFCAB7 Zornitza Stark Marked gene: EFCAB7 as ready
Mendeliome v1.1263 EFCAB7 Zornitza Stark Gene: efcab7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.155 PLS3 Ain Roesley Phenotypes for gene: PLS3 were changed from Bone mineral density QTL18, osteoporosis - MIM#300910 to Bone mineral density QTL18, osteoporosis - MIM#300910; congenital diaphragmatic hernia MONDO:0005711, PLS3-related
Fetal anomalies v1.154 PLS3 Ain Roesley Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043
Fetal anomalies v1.153 PLS3 Ain Roesley Classified gene: PLS3 as Green List (high evidence)
Fetal anomalies v1.153 PLS3 Ain Roesley Gene: pls3 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.20 MTM1 Rylee Peters edited their review of gene: MTM1: Changed rating: AMBER; Changed phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400
Fetal anomalies v1.152 PLS3 Lauren Rogers reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37751738; Phenotypes: congenital diaphragmatic hernia MONDO:0005711, PLS3-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Liver Failure_Paediatric v1.20 MTM1 Rylee Peters changed review comment from: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters.
Sources: Literature; to: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters.
Sources: Literature
Fetal anomalies v1.152 MYCN Elena Savva Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280); eurodevelopmental disorder (MONDO:0700092), MYCN-related to Feingold syndrome 1 (MIM#164280); Neurodevelopmental disorder (MONDO:0700092), MYCN-related
Fetal anomalies v1.151 MYCN Elena Savva Added comment: Comment on phenotypes: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals). Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.
Fetal anomalies v1.151 MYCN Elena Savva Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280) to Feingold syndrome 1 (MIM#164280); eurodevelopmental disorder (MONDO:0700092), MYCN-related
Liver Failure_Paediatric v1.20 MTM1 Rylee Peters gene: MTM1 was added
gene: MTM1 was added to Liver Failure_Paediatric. Sources: Literature
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MTM1 were set to PMID: 37490339
Phenotypes for gene: MTM1 were set to X-linked myotubular myopathy
Added comment: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters.
Sources: Literature
Fetal anomalies v1.150 MYCN Elena Savva Publications for gene: MYCN were set to 18470948
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Marked gene: PLS3 as ready
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Gene: pls3 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Classified gene: PLS3 as Green List (high evidence)
Congenital diaphragmatic hernia v1.13 PLS3 Ain Roesley Gene: pls3 has been classified as Green List (High Evidence).
Mendeliome v1.1263 EFCAB7 Zornitza Stark Classified gene: EFCAB7 as Amber List (moderate evidence)
Mendeliome v1.1263 EFCAB7 Zornitza Stark Gene: efcab7 has been classified as Amber List (Moderate Evidence).
Polydactyly v0.268 EFCAB7 Zornitza Stark Marked gene: EFCAB7 as ready
Polydactyly v0.268 EFCAB7 Zornitza Stark Gene: efcab7 has been classified as Amber List (Moderate Evidence).
Polydactyly v0.268 EFCAB7 Zornitza Stark Classified gene: EFCAB7 as Amber List (moderate evidence)
Polydactyly v0.268 EFCAB7 Zornitza Stark Gene: efcab7 has been classified as Amber List (Moderate Evidence).
Polydactyly v0.268 MYCN Elena Savva Classified gene: MYCN as Green List (high evidence)
Polydactyly v0.268 MYCN Elena Savva Gene: mycn has been classified as Green List (High Evidence).
Mendeliome v1.1262 MYCN Elena Savva Phenotypes for gene: MYCN were changed from Feingold syndrome 1; megalencephaly; ventriculomegaly; hypoplastic corpus callosum; intellectual disability; polydactyly; neuroblastoma to Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Feingold syndrome 1 MIM#164280
Mendeliome v1.1261 CDC23 Zornitza Stark Marked gene: CDC23 as ready
Mendeliome v1.1261 CDC23 Zornitza Stark Gene: cdc23 has been classified as Green List (High Evidence).
Mendeliome v1.1261 MYCN Elena Savva Publications for gene: MYCN were set to 21224895; 8470948; 30573562
Polydactyly v0.267 MYCN Elena Savva Classified gene: MYCN as Green List (high evidence)
Polydactyly v0.267 MYCN Elena Savva Gene: mycn has been classified as Green List (High Evidence).
Mendeliome v1.1260 CDC23 Zornitza Stark Classified gene: CDC23 as Green List (high evidence)
Mendeliome v1.1260 CDC23 Zornitza Stark Gene: cdc23 has been classified as Green List (High Evidence).
Polydactyly v0.266 MYCN Elena Savva Marked gene: MYCN as ready
Polydactyly v0.266 MYCN Elena Savva Gene: mycn has been removed from the panel.
Macrocephaly_Megalencephaly v0.134 MYCN Elena Savva Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder with megalencephaly to Neurodevelopmental disorder (MONDO:0700092), MYCN-related
Genetic Epilepsy v0.1931 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1931 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1259 CFAP20 Ain Roesley Marked gene: CFAP20 as ready
Mendeliome v1.1259 CFAP20 Ain Roesley Gene: cfap20 has been classified as Green List (High Evidence).
Clefting disorders v0.243 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Clefting disorders v0.243 SEC24D Zornitza Stark Gene: sec24d has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.133 MYCN Elena Savva Publications for gene: MYCN were set to 30573562
Clefting disorders v0.243 SEC24D Zornitza Stark Classified gene: SEC24D as Red List (low evidence)
Clefting disorders v0.243 SEC24D Zornitza Stark Gene: sec24d has been classified as Red List (Low Evidence).
Mendeliome v1.1259 CFAP20 Ain Roesley Phenotypes for gene: CFAP20 were changed from Retinitis pigmentosa (MONDO:0019200) to Retinitis pigmentosa (MONDO:0019200), CFAP20-related
Macrocephaly_Megalencephaly v0.133 MYCN Elena Savva Classified gene: MYCN as Green List (high evidence)
Macrocephaly_Megalencephaly v0.133 MYCN Elena Savva Gene: mycn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1931 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1931 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1258 CFAP20 Ain Roesley Classified gene: CFAP20 as Green List (high evidence)
Mendeliome v1.1258 CFAP20 Ain Roesley Gene: cfap20 has been classified as Green List (High Evidence).
Mendeliome v1.1257 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Mendeliome v1.1257 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1931 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1931 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.134 CFAP20 Ain Roesley Marked gene: CFAP20 as ready
Retinitis pigmentosa v0.134 CFAP20 Ain Roesley Gene: cfap20 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.134 CFAP20 Ain Roesley Phenotypes for gene: CFAP20 were changed from Retinitis pigmentosa (MONDO:0019200) to Retinitis pigmentosa (MONDO:0019200), CFAP20-related
Retinitis pigmentosa v0.133 CFAP20 Ain Roesley Classified gene: CFAP20 as Green List (high evidence)
Retinitis pigmentosa v0.133 CFAP20 Ain Roesley Gene: cfap20 has been classified as Green List (High Evidence).
Mendeliome v1.1256 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Mendeliome v1.1256 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.235 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Microcephaly v1.235 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1255 COG3 Elena Savva Marked gene: COG3 as ready
Mendeliome v1.1255 COG3 Elena Savva Gene: cog3 has been removed from the panel.
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Classified gene: MAST4 as Green List (high evidence)
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.232 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Dystonia and Chorea v0.232 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.232 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Dystonia and Chorea v0.232 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.232 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Dystonia and Chorea v0.232 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5514 MYCN Naomi Baker commented on gene: MYCN: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals). Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.
Microcephaly v1.235 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Microcephaly v1.235 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1255 EFCAB7 Melanie Marty gene: EFCAB7 was added
gene: EFCAB7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EFCAB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB7 were set to PMID: 37684519
Phenotypes for gene: EFCAB7 were set to Polydactyly (MONDO:0021003), EFCAB7-related
Review for gene: EFCAB7 was set to AMBER
Added comment: PMID: 37684519: two homozygous frameshift variants were identified by exome sequencing in four consanguinous Pakistani families, 3 families with p.(Gly277Valfs*5) and 1 family with p.(Asn451Phefs*2). Variants segregated with disease and het carriers were unaffected. Counting as 2 families to be conservative.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5514 MAST4 Ain Roesley Classified gene: MAST4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5514 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Polydactyly v0.266 MYCN Naomi Baker gene: MYCN was added
gene: MYCN was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCN were set to PMID:37710961
Phenotypes for gene: MYCN were set to Neurodevelopmental disorder (MONDO:0700092), MYCN-related
Mode of pathogenicity for gene: MYCN was set to Other
Review for gene: MYCN was set to GREEN
Added comment: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals). Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.
Sources: Literature
Microcephaly v1.234 COG3 Elena Savva Marked gene: COG3 as ready
Microcephaly v1.234 COG3 Elena Savva Gene: cog3 has been removed from the panel.
Genetic Epilepsy v0.1930 COG3 Elena Savva Marked gene: COG3 as ready
Genetic Epilepsy v0.1930 COG3 Elena Savva Gene: cog3 has been removed from the panel.
Congenital diaphragmatic hernia v1.12 PLS3 Lauren Rogers changed review comment from: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.
Sources: Literature; to: 8 unrelated families with affected males with an X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.
Sources: Literature
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Classified gene: MAST4 as Green List (high evidence)
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5514 MAST4 Ain Roesley Classified gene: MAST4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5514 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Ataxia v1.12 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Ataxia v1.12 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5513 MYCN Naomi Baker reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v1.12 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Ataxia v1.12 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v1.12 PLS3 Lauren Rogers gene: PLS3 was added
gene: PLS3 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLS3 were set to 37751738
Phenotypes for gene: PLS3 were set to congenital diaphragmatic hernia MONDO:0005711, PLS3-related
Review for gene: PLS3 was set to GREEN
Added comment: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.
Sources: Literature
Mendeliome v1.1254 CFAP20 Sarah Pantaleo gene: CFAP20 was added
gene: CFAP20 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP20 were set to PMID:36329026
Phenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200)
Review for gene: CFAP20 was set to GREEN
Added comment: CFAP20 is a ciliopathy candidate. Demonstrate in zebrafish that cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development.

Human patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy (retinitis pigments). Hence, CFAP20 functions within a structural./functional hub centred on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associaetd domains or macromolecular complexes.

Describe 8 individuals from 4 independent families with damaging biallelic variants (homozygous or compound heterozygous) in CFAP20 that segregate with retinal dystrophy. All variants cluster to one side of the protein, with two of the residues directly contacting alpha-tubullin.

Family 1 - consanguineous set of 3 siblings from Sudan, homozygous for CFAP20 c.305G>A; p.Arg102His (they also had a homozygous variant in DYNC1LI2 however CFAP20 was considered the better candidate.
Family 2 - 3 siblings from Spain, 2 with retinal dystrophy, 1 genetically tested and has c.337C>T; p.(Arg113Trp) and c.397delC; p.(Gln133Serfs*5)
Family 3 - single affected family member compound het for c.164+1G>A and c.457A>G; p.(Arg153Gly).
Family 4 - 3 affected siblings with generalised retinopathy and variable neurological deficits with c.164+1G>A and c.257G>A; p.(Tyr86Cys)

For all families, no individuals had signs of polycystic kidney disease; however, not all individuals had kidney imaging. Visual defecit phenotype presented between adolescence and adulthood (17-56 years old).

Used HEK293T cell expression studies to demonstrate a statistically significant decline of mutated CFAP20 protein levels (with the exception of p.Arg102His). To test the specific variants, they used the C.elegans orthologues.
Sources: Literature
Mendeliome v1.1255 GPRASP1 Elena Savva Classified gene: GPRASP1 as Amber List (moderate evidence)
Mendeliome v1.1255 GPRASP1 Elena Savva Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1929 MAST4 Ain Roesley Marked gene: MAST4 as ready
Genetic Epilepsy v0.1929 MAST4 Ain Roesley Gene: mast4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5513 MAST4 Ain Roesley Marked gene: MAST4 as ready
Intellectual disability syndromic and non-syndromic v0.5513 MAST4 Ain Roesley Gene: mast4 has been classified as Red List (Low Evidence).
Mendeliome v1.1254 GPRASP1 Elena Savva Classified gene: GPRASP1 as Amber List (moderate evidence)
Mendeliome v1.1254 GPRASP1 Elena Savva Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1253 GPRASP1 Elena Savva Classified gene: GPRASP1 as Amber List (moderate evidence)
Mendeliome v1.1253 GPRASP1 Elena Savva Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1252 GPRASP1 Elena Savva Marked gene: GPRASP1 as ready
Mendeliome v1.1252 GPRASP1 Elena Savva Gene: gprasp1 has been removed from the panel.
Mendeliome v1.1252 MYCN Naomi Baker reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.266 EFCAB7 Melanie Marty gene: EFCAB7 was added
gene: EFCAB7 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: EFCAB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB7 were set to PMID: 37684519
Phenotypes for gene: EFCAB7 were set to Polydactyly (MONDO:0021003), EFCAB7-related
Review for gene: EFCAB7 was set to AMBER
Added comment: PMID: 37684519: two homozygous frameshift variants were identified by exome sequencing in four consanguinous Pakistani families, 3 families with p.(Gly277Valfs*5) and 1 family with p.(Asn451Phefs*2). Variants segregated with disease and het carriers were unaffected. Counting as 2 families to be conservative.
Sources: Literature
Mendeliome v1.1252 MAST4 Ain Roesley Marked gene: MAST4 as ready
Mendeliome v1.1252 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Marked gene: GPRASP1 as ready
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.132 CFAP20 Sarah Pantaleo gene: CFAP20 was added
gene: CFAP20 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP20 were set to PMID:36329026
Phenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200)
Review for gene: CFAP20 was set to GREEN
Added comment: CFAP20 is a ciliopathy candidate. Demonstrate in zebrafish that cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development.

Human patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy (retinitis pigments). Hence, CFAP20 functions within a structural./functional hub centred on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associaetd domains or macromolecular complexes.

Describe 8 individuals from 4 independent families with damaging biallelic variants (homozygous or compound heterozygous) in CFAP20 that segregate with retinal dystrophy. All variants cluster to one side of the protein, with two of the residues directly contacting alpha-tubullin.

Family 1 - consanguineous set of 3 siblings from Sudan, homozygous for CFAP20 c.305G>A; p.Arg102His (they also had a homozygous variant in DYNC1LI2 however CFAP20 was considered the better candidate.
Family 2 - 3 siblings from Spain, 2 with retinal dystrophy, 1 genetically tested and has c.337C>T; p.(Arg113Trp) and c.397delC; p.(Gln133Serfs*5)
Family 3 - single affected family member compound het for c.164+1G>A and c.457A>G; p.(Arg153Gly).
Family 4 - 3 affected siblings with generalised retinopathy and variable neurological deficits with c.164+1G>A and c.257G>A; p.(Tyr86Cys)

For all families, no individuals had signs of polycystic kidney disease; however, not all individuals had kidney imaging. Visual defecit phenotype presented between adolescence and adulthood (17-56 years old).

Used HEK293T cell expression studies to demonstrate a statistically significant decline of mutated CFAP20 protein levels (with the exception of p.Arg102His). To test the specific variants, they used the C.elegans orthologues.
Sources: Literature
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Classified gene: GPRASP1 as Amber List (moderate evidence)
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5513 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Intellectual disability syndromic and non-syndromic v0.5513 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Mendeliome v1.1252 MAST4 Ain Roesley Classified gene: MAST4 as Green List (high evidence)
Mendeliome v1.1252 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1929 MAST4 Ain Roesley gene: MAST4 was added
gene: MAST4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST4 were set to 36910266; 33057194
Phenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related
Penetrance for gene: MAST4 were set to Complete
Review for gene: MAST4 was set to GREEN
gene: MAST4 was marked as current diagnostic
Added comment: PMID: 36910266 - 4 families with 4 affecteds, all de novo missense

2x borderline microcephaly (-2SD)
2x gross motor delay
2x dysmorphism
4x ID + seizures
3x abnormal brain MRI findings

PMID: 33057194 - 5x de novos, 4x missense + 1x PTC
Cohort of individuals with severe developmental disorder
individual phenotypic information not provided


Recurrent variants are Thr1471Ile (3x) and Ser1181Phe)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5513 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5513 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Mendeliome v1.1251 CDC23 Michelle Torres gene: CDC23 was added
gene: CDC23 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDC23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC23 were set to 37768355
Phenotypes for gene: CDC23 were set to inherited oocyte maturation defect MONDO#0014769, CDC23-related
Review for gene: CDC23 was set to GREEN
Added comment: Two missense variants, p.(Y329C) and p.(R330C), detected in three unrelated homozygous infertile females characterised by oocyte maturation defects.

In vitro studies using HeLa cells showed either decreased protein levels (Y329C) or impaired localisation (R330C). In vivo studies in mice homozygous for Y329C reproduced patient’s phenotype.
Sources: Literature
Macrocephaly_Megalencephaly v0.132 MYCN Naomi Baker reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5512 MAST4 Ain Roesley gene: MAST4 was added
gene: MAST4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST4 were set to 36910266; 33057194
Phenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related
Penetrance for gene: MAST4 were set to Complete
Review for gene: MAST4 was set to GREEN
gene: MAST4 was marked as current diagnostic
Added comment: PMID: 36910266 - 4 families with 4 affecteds, all de novo missense

2x borderline microcephaly (-2SD)
2x gross motor delay
2x dysmorphism
4x ID + seizures
3x abnormal brain MRI findings

PMID: 33057194 - 5x de novos, 4x missense + 1x PTC
Cohort of individuals with severe developmental disorder
individual phenotypic information not provided


Recurrent variants are Thr1471Ile (3x) and Ser1181Phe)
Sources: Literature
Clefting disorders v0.242 SEC24D Ee Ming Wong gene: SEC24D was added
gene: SEC24D was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: SEC24D was set to Unknown
Publications for gene: SEC24D were set to PMID:37676273
Phenotypes for gene: SEC24D were set to Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related
Review for gene: SEC24D was set to RED
gene: SEC24D was marked as current diagnostic
Added comment: - Subtype-specific genome-wide study to test for genetic modifiers of cleft lip VS cleft lip and palate
- SEC24D was genome-wide significant (p = 6.86 × 10-7), and having a burden of rare variants in cleft lip VS cleft lip and palate
Sources: Literature
Mendeliome v1.1251 GPRASP1 Paul De Fazio gene: GPRASP1 was added
gene: GPRASP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPRASP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPRASP1 were set to 37787182
Phenotypes for gene: GPRASP1 were set to Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
Penetrance for gene: GPRASP1 were set to unknown
Review for gene: GPRASP1 was set to AMBER
gene: GPRASP1 was marked as current diagnostic
Added comment: Two hemizygous germline missense variants, p.Arg1167Trp and p.Trp553Cys, were identified in three male patients presenting with spinal AVM, Cobb syndrome, or scalp AVM. The variants were inherited from unaffected heterozygous mothers. Note that p.Arg1167Trp has hemizygous (>70) and homozygous individuals reported in gnomAD.

The variants were found to result in LoF in endothelial cells. Endothelial Gprasp1 knockout mice suffered a high probability of cerebral hemorrhage, AVMs, and exhibited vascular anomalies in multiple organs.
Sources: Literature
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v1.10 GPRASP1 Paul De Fazio gene: GPRASP1 was added
gene: GPRASP1 was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: GPRASP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPRASP1 were set to 37787182
Phenotypes for gene: GPRASP1 were set to Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
Penetrance for gene: GPRASP1 were set to unknown
Review for gene: GPRASP1 was set to AMBER
gene: GPRASP1 was marked as current diagnostic
Added comment: Two hemizygous germline missense variants, p.Arg1167Trp and p.Trp553Cys, were identified in three male patients presenting with spinal AVM, Cobb syndrome, or scalp AVM. The variants were inherited from unaffected heterozygous mothers. Note that p.Arg1167Trp has hemizygous (>70) and homozygous individuals reported in gnomAD.

The variants were found to result in LoF in endothelial cells. Endothelial Gprasp1 knockout mice suffered a high probability of cerebral hemorrhage, AVMs, and exhibited vascular anomalies in multiple organs.
Sources: Literature
Mendeliome v1.1251 COG3 Daniel Flanagan gene: COG3 was added
gene: COG3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to PMID: 37711075
Phenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related
Review for gene: COG3 was set to AMBER
Added comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Expert list
Mendeliome v1.1251 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Mendeliome v1.1250 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to 30535804; 15829536
Mendeliome v1.1249 MAST4 Ain Roesley gene: MAST4 was added
gene: MAST4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST4 were set to 36910266; 33057194
Phenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related
Penetrance for gene: MAST4 were set to Complete
Review for gene: MAST4 was set to GREEN
gene: MAST4 was marked as current diagnostic
Added comment: PMID: 36910266 - 4 families with 4 affecteds, all de novo missense

2x borderline microcephaly (-2SD)
2x gross motor delay
2x dysmorphism
4x ID + seizures
3x abnormal brain MRI findings

PMID: 33057194 - 5x de novos, 4x missense + 1x PTC
Cohort of individuals with severe developmental disorder
individual phenotypic information not provided


Recurrent variants are Thr1471Ile (3x) and Ser1181Phe)
Sources: Literature
Microcephaly v1.234 COG3 Daniel Flanagan gene: COG3 was added
gene: COG3 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to PMID: 37711075
Phenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related
Review for gene: COG3 was set to AMBER
Added comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Expert list
Genetic Epilepsy v0.1927 COG3 Daniel Flanagan gene: COG3 was added
gene: COG3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to PMID: 37711075
Phenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related
Review for gene: COG3 was set to AMBER
Added comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5511 COG3 Zornitza Stark Marked gene: COG3 as ready
Intellectual disability syndromic and non-syndromic v0.5511 COG3 Zornitza Stark Gene: cog3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5511 COG3 Zornitza Stark Classified gene: COG3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5511 COG3 Zornitza Stark Gene: cog3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1927 ATP2B2 Andrew Fennell gene: ATP2B2 was added
gene: ATP2B2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to PMID: 37675773
Phenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Mode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ATP2B2 was set to GREEN
Added comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.

All patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5510 ZBTB47 Elena Savva Classified gene: ZBTB47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5510 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1927 ZBTB47 Elena Savva Classified gene: ZBTB47 as Green List (high evidence)
Genetic Epilepsy v0.1927 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5510 ZBTB47 Elena Savva Classified gene: ZBTB47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5510 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Ataxia v1.11 ATP2B2 Andrew Fennell gene: ATP2B2 was added
gene: ATP2B2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to PMID: 37675773
Phenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Mode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ATP2B2 was set to GREEN
Added comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.

All patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region.
Sources: Literature
Genetic Epilepsy v0.1926 ZBTB47 Elena Savva Classified gene: ZBTB47 as Green List (high evidence)
Genetic Epilepsy v0.1926 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5509 ZBTB47 Elena Savva Marked gene: ZBTB47 as ready
Intellectual disability syndromic and non-syndromic v0.5509 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1925 ZBTB47 Elena Savva Marked gene: ZBTB47 as ready
Genetic Epilepsy v0.1925 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Red List (Low Evidence).
Mendeliome v1.1248 ZBTB47 Elena Savva Marked gene: ZBTB47 as ready
Mendeliome v1.1248 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Mendeliome v1.1248 ZBTB47 Elena Savva Classified gene: ZBTB47 as Green List (high evidence)
Mendeliome v1.1248 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5509 ATP2B2 Andrew Fennell gene: ATP2B2 was added
gene: ATP2B2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to PMID: 37675773
Phenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Mode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ATP2B2 was set to GREEN
Added comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.

All patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region.
Sources: Literature
Dystonia and Chorea v0.231 ATP2B2 Andrew Fennell gene: ATP2B2 was added
gene: ATP2B2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to PMID: 37675773
Phenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Mode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ATP2B2 was set to GREEN
Added comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.

All patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region.
Sources: Literature
Mendeliome v1.1247 ZBTB47 Elena Savva gene: ZBTB47 was added
gene: ZBTB47 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB47 were set to 37743782
Phenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related
Review for gene: ZBTB47 was set to GREEN
Added comment: PMID 37743782:
- 5 patients with de novo missense, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5).
- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.
- No functional studies performed
- Minimal PTCs in gnomAD
Sources: Literature
Mendeliome v1.1246 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Mental retardation, X-linked 100, MIM# 300923; Taurodontism, microdontia, and dens invaginatus (MIM#313490)
Genetic Epilepsy v0.1925 ZBTB47 Elena Savva gene: ZBTB47 was added
gene: ZBTB47 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB47 were set to 37743782
Phenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related
Review for gene: ZBTB47 was set to GREEN
Added comment: PMID 37743782:
- 5 patients with de novo missense, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5).
- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.
- No functional studies performed
- Minimal PTCs in gnomAD
Sources: Literature
Mendeliome v1.1245 ATP2B2 Andrew Fennell reviewed gene: ATP2B2: 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: PMID: 37675773; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5509 COG3 Daniel Flanagan gene: COG3 was added
gene: COG3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to PMID: 37711075
Phenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related
Review for gene: COG3 was set to AMBER
Added comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5509 ZBTB47 Elena Savva gene: ZBTB47 was added
gene: ZBTB47 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB47 were set to 37743782
Phenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related
Review for gene: ZBTB47 was set to GREEN
Added comment: PMID 37743782:
- 5 patients with de novo missense, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5).
- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.
- No functional studies performed
- Minimal PTCs in gnomAD
Sources: Literature
Mendeliome v1.1245 KIF4A Lucy Spencer reviewed gene: KIF4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31616463; Phenotypes: Taurodontism, microdontia, and dens invaginatus (MIM#313490); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5508 TANGO2 Kaitlyn Dianna Weldon reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29369572; Phenotypes: obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MONDO:0014812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5508 TAT Kaitlyn Dianna Weldon reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: tyrosinemia type II MONDO:0010160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5508 TAZ Kaitlyn Dianna Weldon reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299040; Phenotypes: Barth syndrome MONDO:0010543; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5508 TBC1D24 Kaitlyn Dianna Weldon reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 25719194; Phenotypes: familial infantile myoclonic epilepsy MONDO:0011506, DOORS syndrome MONDO:0009079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5508 TCF4 Kaitlyn Dianna Weldon reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22934316; Phenotypes: Pitt-Hopkins syndrome MONDO:0012589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5508 TMCO1 Kaitlyn Dianna Weldon reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1204988, 1640432, 15326640, 20018682; Phenotypes: obsolete cerebrofaciothoracic dysplasia MONDO:0008952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5508 TMEM216 Kaitlyn Dianna Weldon reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350; Phenotypes: Joubert syndrome 2 MONDO:0011963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5508 TMEM240 Kaitlyn Dianna Weldon reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: None; Publications: 25070513; Phenotypes: spinocerebellar ataxia type 21 MONDO:0011833; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5508 TMEM70 Kaitlyn Dianna Weldon reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.107 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Genomic newborn screening: BabyScreen+ v1.107 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.107 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type I to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Genomic newborn screening: BabyScreen+ v1.106 WNK1 Zornitza Stark Mode of inheritance for gene: WNK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.105 WNK1 Zornitza Stark Classified gene: WNK1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.105 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.104 WNK1 Zornitza Stark Tag treatable tag was added to gene: WNK1.
Tag endocrine tag was added to gene: WNK1.
Genomic newborn screening: BabyScreen+ v1.104 WNK1 Zornitza Stark reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism 2C (PHA2C), MIM#614492; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.104 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.103 TRIM28 Zornitza Stark Tag cancer tag was added to gene: TRIM28.
Tag treatable tag was added to gene: TRIM28.
Genomic newborn screening: BabyScreen+ v1.103 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilms tumour, MONDO:0006058, TRIM28-related
Review for gene: TRIM28 was set to GREEN
Added comment: Established gene-disease association, more than 10 individuals reported.

Onset in childhood.

Included for completeness as managed similarly to WT1.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.102 TRHR Zornitza Stark Marked gene: TRHR as ready
Genomic newborn screening: BabyScreen+ v1.102 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.102 TRHR Zornitza Stark Phenotypes for gene: TRHR were changed from Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Genomic newborn screening: BabyScreen+ v1.101 TRHR Zornitza Stark Publications for gene: TRHR were set to
Genomic newborn screening: BabyScreen+ v1.100 TRHR Zornitza Stark Classified gene: TRHR as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.100 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.99 TRHR Zornitza Stark Tag treatable tag was added to gene: TRHR.
Tag endocrine tag was added to gene: TRHR.
Genomic newborn screening: BabyScreen+ v1.99 TRHR Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.99 SGPL1 Zornitza Stark Classified gene: SGPL1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.99 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.98 SGPL1 Zornitza Stark Tag renal was removed from gene: SGPL1.
Tag treatable tag was added to gene: SGPL1.
Tag endocrine tag was added to gene: SGPL1.
Genomic newborn screening: BabyScreen+ v1.98 SGPL1 Zornitza Stark reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 14 MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.98 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Genomic newborn screening: BabyScreen+ v1.98 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.98 SCNN1G Zornitza Stark Phenotypes for gene: SCNN1G were changed from Pseudohypoaldosteronism, type I, MIM# 264350; Pseudohypoaldosteronism to Pseudohypoaldosteronism, type I, MIM# 264350
Genomic newborn screening: BabyScreen+ v1.97 SCNN1G Zornitza Stark Classified gene: SCNN1G as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.97 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.96 SCNN1G Zornitza Stark Tag treatable tag was added to gene: SCNN1G.
Tag endocrine tag was added to gene: SCNN1G.
Genomic newborn screening: BabyScreen+ v1.96 SCNN1G Zornitza Stark reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.96 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Genomic newborn screening: BabyScreen+ v1.96 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.96 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from Diamond-Blackfan anaemia 8, MIM# 612563; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 8, MIM# 612563
Genomic newborn screening: BabyScreen+ v1.95 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Genomic newborn screening: BabyScreen+ v1.94 RPS7 Zornitza Stark Classified gene: RPS7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.94 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.93 RPS7 Zornitza Stark Tag treatable tag was added to gene: RPS7.
Tag haematological tag was added to gene: RPS7.
Genomic newborn screening: BabyScreen+ v1.93 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.234 DDX3X Ain Roesley Marked gene: DDX3X as ready
Microcephaly v1.234 DDX3X Ain Roesley Gene: ddx3x has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.93 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Genomic newborn screening: BabyScreen+ v1.93 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Microcephaly v1.234 DDX3X Ain Roesley Classified gene: DDX3X as Green List (high evidence)
Microcephaly v1.234 DDX3X Ain Roesley Gene: ddx3x has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.93 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anaemia 5, MIM# 612528; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 5, MIM# 612528
Genomic newborn screening: BabyScreen+ v1.92 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Genomic newborn screening: BabyScreen+ v1.91 RPL35A Zornitza Stark Classified gene: RPL35A as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.91 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.90 RPL35A Zornitza Stark Tag treatable tag was added to gene: RPL35A.
Tag haematological tag was added to gene: RPL35A.
Genomic newborn screening: BabyScreen+ v1.90 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Marked gene: REST as ready
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Classified gene: REST as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.90 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.89 REST Zornitza Stark gene: REST was added
gene: REST was added to BabyScreen+ newborn screening. Sources: Expert list
cancer, treatable tags were added to gene: REST.
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REST were set to 26551668; 34308104
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to}, MIM# 616806
Review for gene: REST was set to GREEN
Added comment: Established association, more than 10 families reported.

Childhood onset.

Included for completeness as managed similarly to WT1.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Classified gene: PSTPIP1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.88 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.87 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: PSTPIP1.
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Review for gene: PSTPIP1 was set to GREEN
Added comment: Established gene-disease association.

Onset in childhood.

Treatment: adalimumab and tacrolimus, NSAIDs, corticosteroids, BMT

non-genetic confirmatory testing: no
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.86 PPOX Zornitza Stark Marked gene: PPOX as ready
Genomic newborn screening: BabyScreen+ v1.86 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.86 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata to Variegate porphyria, childhood-onset, MIM# 620483
Genomic newborn screening: BabyScreen+ v1.85 PPOX Zornitza Stark Tag treatable tag was added to gene: PPOX.
Tag haematological tag was added to gene: PPOX.
Genomic newborn screening: BabyScreen+ v1.85 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.84 PPOX Zornitza Stark Classified gene: PPOX as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.84 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.83 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.83 POMC Zornitza Stark Marked gene: POMC as ready
Genomic newborn screening: BabyScreen+ v1.83 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.83 POMC Zornitza Stark Phenotypes for gene: POMC were changed from Proopiomelanocortin deficiency to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Genomic newborn screening: BabyScreen+ v1.82 POMC Zornitza Stark Classified gene: POMC as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.82 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.81 POMC Zornitza Stark reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Marked gene: POLE as ready
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Classified gene: POLE as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.81 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.80 POLE Zornitza Stark gene: POLE was added
gene: POLE was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: POLE.
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLE were set to IMAGE-I syndrome, MIM# 618336
Review for gene: POLE was set to GREEN
Added comment: Established gene-disease association.

Multi-system disorder comprising GH and adrenal hypoplasia.

Treatment: hydrocortisone

non-genetic confirmatory testing: hormone levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.79 NCF4 Zornitza Stark Marked gene: NCF4 as ready
Genomic newborn screening: BabyScreen+ v1.79 NCF4 Zornitza Stark Gene: ncf4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.79 NCF4 Zornitza Stark Phenotypes for gene: NCF4 were changed from Chronic granulomatous disease 3, autosomal recessive, MIM# 613960; Chronic granulomatous disease to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Genomic newborn screening: BabyScreen+ v1.78 NCF4 Zornitza Stark Classified gene: NCF4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.78 NCF4 Zornitza Stark Gene: ncf4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.77 NCF4 Zornitza Stark Tag treatable tag was added to gene: NCF4.
Tag immunological tag was added to gene: NCF4.
Genomic newborn screening: BabyScreen+ v1.77 NCF4 Zornitza Stark reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Marked gene: LPL as ready
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Classified gene: LPL as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.77 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.76 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, metabolic tags were added to gene: LPL.
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, MIM# 238600
Review for gene: LPL was set to GREEN
Added comment: Established gene-disease association.

Bi-allelic disease is severe and presents in infancy.

Treatment: volanesorsen, dietary fat restriction, lomitapide

Non-genetic confirmatory testing: LPL activity
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Marked gene: LAT as ready
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.75 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.74 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: LAT.
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: Established gene-disease association.

SCID-like presentation.

Treatment: BMT

Non-genetic confirmatory testing: yes
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Classified gene: KLHL3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.73 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.72 KLHL3 Zornitza Stark gene: KLHL3 was added
gene: KLHL3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: KLHL3.
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495
Review for gene: KLHL3 was set to GREEN
Added comment: Established gene disease association.

Results in hyperkalaemia and later, the development of hypertension.

Treatment: thiazide diuretics normalise electrolytes

Non-genetic confirmatory testing: electrolytes
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Classified gene: IRF8 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.71 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.70 IRF8 Zornitza Stark gene: IRF8 was added
gene: IRF8 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: IRF8.
Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Review for gene: IRF8 was set to GREEN
Added comment: At least 4 families reported with bi-allelic variants. Gene-disease association also proposed for mono-allelic variants but only two individuals reported.

Recurrent infections presenting in infancy.

Treatment: BMT

Non-genetic confirmatory testing available
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.69 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Genomic newborn screening: BabyScreen+ v1.69 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.69 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from Inflammatory bowel disease; Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Genomic newborn screening: BabyScreen+ v1.68 IL10RB Zornitza Stark Classified gene: IL10RB as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.68 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.67 IL10RB Zornitza Stark Tag treatable tag was added to gene: IL10RB.
Tag immunological tag was added to gene: IL10RB.
Genomic newborn screening: BabyScreen+ v1.67 IL10RB Zornitza Stark reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Marked gene: IL10 as ready
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Classified gene: IL10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.67 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.66 IL10 Zornitza Stark Tag treatable tag was added to gene: IL10.
Tag immunological tag was added to gene: IL10.
Genomic newborn screening: BabyScreen+ v1.66 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10 were set to 22236434; 20951137; 19890111
Phenotypes for gene: IL10 were set to Autoinflammatory syndrome, MONDO:0019751, IL10-related
Review for gene: IL10 was set to GREEN
Added comment: Established gene-disease association.

Onset in infancy and childhood.

Treatment: BMT

Non-genetic confirmatory testing: flow cytometry
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.65 IGF1 Zornitza Stark Marked gene: IGF1 as ready
Genomic newborn screening: BabyScreen+ v1.65 IGF1 Zornitza Stark Gene: igf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.65 IGF1 Zornitza Stark Phenotypes for gene: IGF1 were changed from Insulin-like growth factor deficiency to Insulin-like growth factor I deficiency, MIM# 608747
Genomic newborn screening: BabyScreen+ v1.64 IGF1 Zornitza Stark Classified gene: IGF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.64 IGF1 Zornitza Stark Gene: igf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.63 IGF1 Zornitza Stark Tag treatable tag was added to gene: IGF1.
Tag endocrine tag was added to gene: IGF1.
Genomic newborn screening: BabyScreen+ v1.63 IGF1 Zornitza Stark reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insulin-like growth factor I deficiency, MIM# 608747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Marked gene: GALNT3 as ready
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Classified gene: GALNT3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.63 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.62 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: GALNT3.
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Review for gene: GALNT3 was set to GREEN
Added comment: Established gene-disease association.

Onset in infancy/childhood.

Treatment: dietary restriction, phosphate binders, acetazolamide

Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Marked gene: FECH as ready
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Classified gene: FECH as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.61 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.60 FECH Zornitza Stark gene: FECH was added
gene: FECH was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, haematological tags were added to gene: FECH.
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, 1, MIM# 177000
Review for gene: FECH was set to GREEN
Added comment: Established gene-disease association.

Onset of photosensitivity is in infancy/childhood.

Treatment: Afamelanotide

Non-genetic confirmatory testing: free protoporphyrin
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.59 F13B Zornitza Stark Marked gene: F13B as ready
Genomic newborn screening: BabyScreen+ v1.59 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.59 F13B Zornitza Stark Phenotypes for gene: F13B were changed from Factor XIIIB deficiency MIM# 613235; Factor XIIIB deficiency, MIM# 613235 to Factor XIIIB deficiency, MIM#613235
Genomic newborn screening: BabyScreen+ v1.58 F13B Zornitza Stark Classified gene: F13B as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.58 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.57 F13B Zornitza Stark Tag treatable tag was added to gene: F13B.
Tag haematological tag was added to gene: F13B.
Genomic newborn screening: BabyScreen+ v1.57 F13B Zornitza Stark reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XIIIB deficiency, MIM#613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.57 F10 Zornitza Stark Classified gene: F10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.57 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.56 F10 Zornitza Stark Tag for review was removed from gene: F10.
Tag treatable tag was added to gene: F10.
Tag haematological tag was added to gene: F10.
Genomic newborn screening: BabyScreen+ v1.56 F10 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable severity: for review. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis.

Treatment: plasma-derived factor 10 concentrate (Coagadex); to: Well established gene-disease association.

Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally hemarthrosis.

Treatment: plasma-derived factor 10 concentrate (Coagadex)
Genomic newborn screening: BabyScreen+ v1.56 F10 Zornitza Stark edited their review of gene: F10: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.56 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Genomic newborn screening: BabyScreen+ v1.56 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.56 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from Xeroderma pigmentosum, group F, MIM# 278760; Xeroderma pigmentosum; Fanconi anaemia, complementation group Q, MIM# 615272 to Fanconi anemia, complementation group Q, MIM# 615272
Genomic newborn screening: BabyScreen+ v1.55 ERCC4 Zornitza Stark Classified gene: ERCC4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.55 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.54 ERCC4 Zornitza Stark Tag treatable tag was added to gene: ERCC4.
Tag haematological tag was added to gene: ERCC4.
Genomic newborn screening: BabyScreen+ v1.54 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.54 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Genomic newborn screening: BabyScreen+ v1.54 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.54 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Cholestasis, severe to Bile acid synthesis defect, congenital, 3, MIM# 613812
Genomic newborn screening: BabyScreen+ v1.53 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Genomic newborn screening: BabyScreen+ v1.52 CYP7B1 Zornitza Stark Classified gene: CYP7B1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.52 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.51 CYP7B1 Zornitza Stark Tag treatable tag was added to gene: CYP7B1.
Tag liver tag was added to gene: CYP7B1.
Genomic newborn screening: BabyScreen+ v1.51 CYP7B1 Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24658845, 31337596, 30366773, 9802883; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Classified gene: CUL3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.51 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.50 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: CUL3.
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE 614496
Review for gene: CUL3 was set to GREEN
Added comment: Established gene-disease association.

Variants in this gene also cause a neurodevelopmental disorder; however, there is some genotype-phenotype correlation literature to help distinguish the two.

Results in hyperkalaemia and development of hypertension. However, the onset of hypertension is generally later in life.

Treatment: thiazide diuretics normalise biochemical abnormalities
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.48 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Genomic newborn screening: BabyScreen+ v1.48 COQ6 Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.48 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from Nephrotic syndrome with sensorineural deafness; Coenzyme Q10 deficiency, primary, 6, MIM# 614650 to Coenzyme Q10 deficiency, primary, 6, MIM# 614650
Genomic newborn screening: BabyScreen+ v1.47 COQ6 Zornitza Stark Classified gene: COQ6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.47 COQ6 Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.46 COQ6 Zornitza Stark Tag treatable tag was added to gene: COQ6.
Tag metabolic tag was added to gene: COQ6.
Genomic newborn screening: BabyScreen+ v1.46 COQ6 Zornitza Stark reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.46 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Genomic newborn screening: BabyScreen+ v1.46 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.46 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1, MIM# 607426; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, MIM# 607426
Genomic newborn screening: BabyScreen+ v1.45 COQ2 Zornitza Stark Classified gene: COQ2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.45 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.44 COQ2 Zornitza Stark Tag treatable tag was added to gene: COQ2.
Tag metabolic tag was added to gene: COQ2.
Genomic newborn screening: BabyScreen+ v1.44 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Classified gene: CHRNB1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.44 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.43 CHRNB1 Zornitza Stark Tag treatable tag was added to gene: CHRNB1.
Tag neurological tag was added to gene: CHRNB1.
Genomic newborn screening: BabyScreen+ v1.43 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32895905; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.43 CFI Zornitza Stark Marked gene: CFI as ready
Genomic newborn screening: BabyScreen+ v1.43 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.43 CFI Zornitza Stark Phenotypes for gene: CFI were changed from Haemolytic uraemic syndrome to Complement factor I deficiency MIM#610984
Genomic newborn screening: BabyScreen+ v1.42 CFI Zornitza Stark Classified gene: CFI as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.42 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.41 CFI Zornitza Stark reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor I deficiency MIM#610984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Marked gene: CFH as ready
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.41 CFH Zornitza Stark Phenotypes for gene: CFH were changed from Haemolytic uraemic syndrome to Complement factor H deficiency, MIM# 609814
Genomic newborn screening: BabyScreen+ v1.40 CFH Zornitza Stark Classified gene: CFH as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.40 CFH Zornitza Stark Gene: cfh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.39 CFH Zornitza Stark Tag treatable tag was added to gene: CFH.
Tag immunological tag was added to gene: CFH.
Genomic newborn screening: BabyScreen+ v1.39 CFH Zornitza Stark reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM# 609814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.39 CFD Zornitza Stark Marked gene: CFD as ready
Genomic newborn screening: BabyScreen+ v1.39 CFD Zornitza Stark Gene: cfd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.39 CFD Zornitza Stark Phenotypes for gene: CFD were changed from Complement factor D deficiency, MIM# 613912; Complement factor D deficiency to Complement factor D deficiency, MIM# 613912
Genomic newborn screening: BabyScreen+ v1.38 CFD Zornitza Stark Publications for gene: CFD were set to
Genomic newborn screening: BabyScreen+ v1.37 CFD Zornitza Stark Classified gene: CFD as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.37 CFD Zornitza Stark Gene: cfd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.36 CFD Zornitza Stark Tag treatable tag was added to gene: CFD.
Tag immunological tag was added to gene: CFD.
Genomic newborn screening: BabyScreen+ v1.36 CFD Zornitza Stark reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency, MIM# 613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Marked gene: CEBPE as ready
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Gene: cebpe has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Classified gene: CEBPE as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.36 CEBPE Zornitza Stark Gene: cebpe has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.35 CEBPE Zornitza Stark Tag treatable tag was added to gene: CEBPE.
Tag immunological tag was added to gene: CEBPE.
Genomic newborn screening: BabyScreen+ v1.35 CEBPE Zornitza Stark gene: CEBPE was added
gene: CEBPE was added to BabyScreen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEBPE were set to Specific granule deficiency, MIM# 245480
Review for gene: CEBPE was set to GREEN
Added comment: Established gene-disease association.

Recurrent infections in infancy and childhood.

Treatment: long term antimicrobial prophalaxis

Non-genetic confirmatory testing available
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Marked gene: C3 as ready
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.34 C3 Zornitza Stark Phenotypes for gene: C3 were changed from Haemolytic uraemic syndrome; C3 deficiency, MIM# 613779 to C3 deficiency, MIM# 613779
Genomic newborn screening: BabyScreen+ v1.33 C3 Zornitza Stark Classified gene: C3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.33 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.32 C3 Zornitza Stark Tag treatable tag was added to gene: C3.
Tag immunological tag was added to gene: C3.
Genomic newborn screening: BabyScreen+ v1.32 C3 Zornitza Stark reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C3 deficiency, MIM# 613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Marked gene: C2 as ready
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Gene: c2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Classified gene: C2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.32 C2 Zornitza Stark Gene: c2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.31 C2 Zornitza Stark Tag treatable tag was added to gene: C2.
Tag immunological tag was added to gene: C2.
Genomic newborn screening: BabyScreen+ v1.31 C2 Zornitza Stark gene: C2 was added
gene: C2 was added to BabyScreen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2 were set to 31421540
Phenotypes for gene: C2 were set to C2 deficiency, MIM# 217000
Review for gene: C2 was set to GREEN
Added comment: Established gene-disease association.

Can present with severe early infections in infancy/childhood.

Later manifestations include autoimmune phenomena.

Treatment: pneumococcal, meningococcal, haemophilus influenzae vaccines

Non-genetic confirmatory tests: complement levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.30 APOA5 Zornitza Stark Marked gene: APOA5 as ready
Genomic newborn screening: BabyScreen+ v1.30 APOA5 Zornitza Stark Gene: apoa5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.30 APOA5 Zornitza Stark gene: APOA5 was added
gene: APOA5 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable tags were added to gene: APOA5.
Mode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA5 were set to 23307945; 31390500
Phenotypes for gene: APOA5 were set to Hyperchylomicronaemia, late-onset, MIM# 144650
Review for gene: APOA5 was set to RED
Added comment: Established gene-disease association.

Variable age of onset, many of the reported individuals are adults.

Treatment: Volanesorsen
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Classified gene: AP3D1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.29 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.28 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, haematological tags were added to gene: AP3D1.
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856; 30472485; 36445457
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050
Review for gene: AP3D1 was set to AMBER
Added comment: Four individuals from two unrelated families and a mouse model. Borderline gene-disease association.

New case report 36445457, proband presenting with SNHL and questionable other subtle features of HPS, homozygous missense variant (VOUS).

Onset in infancy.

Treatable: BMT for immunodeficiency.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v1.27 AMACR Zornitza Stark Marked gene: AMACR as ready
Genomic newborn screening: BabyScreen+ v1.27 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.27 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4 to Bile acid synthesis defect, congenital, 4, MIM# 214950
Genomic newborn screening: BabyScreen+ v1.26 AMACR Zornitza Stark Publications for gene: AMACR were set to
Genomic newborn screening: BabyScreen+ v1.25 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.25 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.24 AMACR Zornitza Stark Tag treatable tag was added to gene: AMACR.
Tag liver tag was added to gene: AMACR.
Genomic newborn screening: BabyScreen+ v1.24 AMACR Zornitza Stark reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12512044; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.24 ABCD4 Zornitza Stark Tag treatable tag was added to gene: ABCD4.
Genomic newborn screening: BabyScreen+ v1.24 SLC9A3 Zornitza Stark edited their review of gene: SLC9A3: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.24 SLC9A3 Zornitza Stark commented on gene: SLC9A3
Complement Deficiencies v0.73 CFB Zornitza Stark Marked gene: CFB as ready
Complement Deficiencies v0.73 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.24 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Genomic newborn screening: BabyScreen+ v1.24 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Prepair 1000+ v1.2 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980
Fetal anomalies v1.149 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980
Growth failure v1.70 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Growth failure v1.69 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Intellectual disability syndromic and non-syndromic v0.5508 ATRX Zornitza Stark Marked gene: ATRX as ready
Intellectual disability syndromic and non-syndromic v0.5508 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5508 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to ATR-X-related syndrome MONDO:0016980
Intellectual disability syndromic and non-syndromic v0.5507 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5506 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ATR-X-related syndrome MONDO:0016980; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Red cell disorders v1.20 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassaemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980
Additional findings_Paediatric v0.278 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to ATR-X-related syndrome MONDO:0016980
Mackenzie's Mission_Reproductive Carrier Screening v0.109 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980
Gastrointestinal neuromuscular disease v1.22 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome MIM#301040 to ATR-X-related syndrome MONDO:0016980
Genetic Epilepsy v0.1924 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Genetic Epilepsy v0.1923 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Cancer Predisposition_Paediatric v0.131 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to ATR-X-related syndrome MONDO:0016980; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.
Microcephaly v1.233 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Alpha-thalassemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980
Microcephaly v1.232 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Mendeliome v1.1245 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Cerebral Palsy v1.190 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Cerebral Palsy v1.189 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Angelman Rett like syndromes v1.9 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Angelman Rett like syndromes v1.9 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Microcephaly v1.232 DDX3X Lauren Rogers gene: DDX3X was added
gene: DDX3X was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DDX3X were set to 26235985
Phenotypes for gene: DDX3X were set to Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958)
Review for gene: DDX3X was set to GREEN
Added comment: PMID: 26235985 - microcephaly seen in 12/38 females with de novo DDX3X variants
Sources: Literature
Ciliopathies v1.46 DLG5 Zornitza Stark Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Mendeliome v1.1244 DLG5 Zornitza Stark Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Cerebral Palsy v1.189 DHX32 Zornitza Stark Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related
Intellectual disability syndromic and non-syndromic v0.5506 DHX32 Zornitza Stark Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related
Mendeliome v1.1243 DHX32 Zornitza Stark Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related
Mendeliome v1.1242 DGAT2 Zornitza Stark Phenotypes for gene: DGAT2 were changed from axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
Mendeliome v1.1241 DDX54 Zornitza Stark Phenotypes for gene: DDX54 were changed from Intellectual disability; congenital anomalies to Neurodevelopmental disorder, MONDO:0700092, DDX54-related
Mendeliome v1.1240 DDX54 Zornitza Stark edited their review of gene: DDX54: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX54-related
Mendeliome v1.1240 DDX23 Zornitza Stark Phenotypes for gene: DDX23 were changed from DDX23-associated neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DDX23-related
Mendeliome v1.1239 DDX23 Zornitza Stark edited their review of gene: DDX23: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX23-related
Intellectual disability syndromic and non-syndromic v0.5505 DDX23 Zornitza Stark Phenotypes for gene: DDX23 were changed from DDX23-associated neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DDX23-related
Intellectual disability syndromic and non-syndromic v0.5504 DDX23 Zornitza Stark edited their review of gene: DDX23: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX23-related
Mendeliome v1.1239 CSNK1G1 Zornitza Stark Phenotypes for gene: CSNK1G1 were changed from Global developmental delay; Intellectual disability; Autism; Seizures to Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related
Mendeliome v1.1238 CSNK1G1 Zornitza Stark edited their review of gene: CSNK1G1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related
Intellectual disability syndromic and non-syndromic v0.5504 CSNK1G1 Zornitza Stark Phenotypes for gene: CSNK1G1 were changed from Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of the face; Abnromality of limbs to Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related
Mendeliome v1.1238 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Mendeliome v1.1237 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related, Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Mendeliome v1.1237 DAZL Zornitza Stark Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.318 DAZL Zornitza Stark Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.317 DACH2 Zornitza Stark Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related
Mendeliome v1.1236 DACH2 Zornitza Stark Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related
Metal Metabolism Disorders v0.36 CYBRD1 Zornitza Stark Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related
Metal Metabolism Disorders v0.35 CYBRD1 Zornitza Stark edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related
Mendeliome v1.1235 CYBRD1 Zornitza Stark Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related
Mendeliome v1.1234 CYBRD1 Zornitza Stark edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related
Intellectual disability syndromic and non-syndromic v0.5503 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Mendeliome v1.1234 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Mendeliome v1.1233 CTNNBL1 Zornitza Stark Phenotypes for gene: CTNNBL1 were changed from Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency to Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
Mendeliome v1.1232 CTNNBL1 Zornitza Stark edited their review of gene: CTNNBL1: Changed phenotypes: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
Mendeliome v1.1232 CSNK1E Zornitza Stark Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related
Genetic Epilepsy v0.1923 CSNK1E Zornitza Stark Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related
Genetic Epilepsy v0.1922 CSNK1E Zornitza Stark edited their review of gene: CSNK1E: Changed phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related
Congenital Disorders of Glycosylation v1.37 CSGALNACT1 Zornitza Stark Phenotypes for gene: CSGALNACT1 were changed from Congenital disorder of glycosylation; skeletal dysplasia to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Congenital Disorders of Glycosylation v1.36 CSGALNACT1 Zornitza Stark edited their review of gene: CSGALNACT1: Changed phenotypes: Congenital disorder of glycosylation, Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Marked gene: CSGALNACT1 as ready
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Classified gene: CSGALNACT1 as Green List (high evidence)
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.254 CSGALNACT1 Zornitza Stark gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Four families reported.
Sources: Expert Review
Mendeliome v1.1231 CSGALNACT1 Zornitza Stark Phenotypes for gene: CSGALNACT1 were changed from Congenital disorders of glycosylation; skeletal dysplasia; advanced bone age to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Mendeliome v1.1230 CSGALNACT1 Zornitza Stark edited their review of gene: CSGALNACT1: Changed phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Autism v0.193 CSDE1 Zornitza Stark Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related
Autism v0.192 CSDE1 Zornitza Stark edited their review of gene: CSDE1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSDE1-related
Intellectual disability syndromic and non-syndromic v0.5502 CSDE1 Zornitza Stark Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related
Mendeliome v1.1230 CSDE1 Zornitza Stark Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related
Mendeliome v1.1229 CSDE1 Zornitza Stark edited their review of gene: CSDE1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSDE1-related
Susceptibility to Viral Infections v0.115 PLCG2 Zornitza Stark Marked gene: PLCG2 as ready
Susceptibility to Viral Infections v0.115 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.115 PLCG2 Zornitza Stark Phenotypes for gene: PLCG2 were changed from Susceptibility to herpes virus to Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related; Susceptibility to herpes virus
Susceptibility to Viral Infections v0.114 PLCG2 Zornitza Stark Classified gene: PLCG2 as Green List (high evidence)
Susceptibility to Viral Infections v0.114 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Mendeliome v1.1229 CASP4 Zornitza Stark Marked gene: CASP4 as ready
Mendeliome v1.1229 CASP4 Zornitza Stark Gene: casp4 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Classified gene: STIL as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Gene: stil has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Classified gene: STIL as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v1.9 STIL Chirag Patel Gene: stil has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1229 CASP4 Zornitza Stark gene: CASP4 was added
gene: CASP4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP4 were set to 37647624
Phenotypes for gene: CASP4 were set to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis
Review for gene: CASP4 was set to RED
Added comment: Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support. Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis.
Sources: Expert Review
Defects of intrinsic and innate immunity v0.130 CASP4 Zornitza Stark Marked gene: CASP4 as ready
Defects of intrinsic and innate immunity v0.130 CASP4 Zornitza Stark Gene: casp4 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.130 CASP4 Zornitza Stark Phenotypes for gene: CASP4 were changed from Susceptibility to meliodiosis to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis
Defects of intrinsic and innate immunity v0.129 CASP4 Zornitza Stark Classified gene: CASP4 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.129 CASP4 Zornitza Stark Gene: casp4 has been classified as Red List (Low Evidence).
Mendeliome v1.1228 IL36RN Zornitza Stark Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, MIM# 614204 to Psoriasis 14, pustular, MIM# 614204; Autoinflammatory syndrome, MONDO:0019751, IL36RN-related
Mendeliome v1.1227 IL36RN Zornitza Stark Mode of inheritance for gene: IL36RN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1226 IL36RN Zornitza Stark edited their review of gene: IL36RN: Added comment: Monoallelic disease: Multiple patients with systemic inflammation with monoallelic variants in IL36RN suggesting a gene dosage effect whereby GPP onset is significantly delayed in subjects with monoallelic mutations but still at high risk of systemic inflammation.; Changed publications: 21848462, 21839423, 22903787, 23648549, 25458002; Changed phenotypes: Psoriasis 14, pustular, MIM# 614204, Autoinflammatory syndrome, MONDO:0019751, IL36RN-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.16 IL36RN Zornitza Stark Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, MIM# 614204 to Psoriasis 14, pustular, MIM# 614204; Autoinflammatory syndrome, MONDO:0019751, IL36RN-related
Autoinflammatory Disorders v1.15 IL36RN Zornitza Stark Mode of inheritance for gene: IL36RN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5501 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Intellectual disability syndromic and non-syndromic v0.5501 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5501 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to pontocerebellar hypoplasia type 2A MONDO:0010190
Intellectual disability syndromic and non-syndromic v0.5500 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Intellectual disability syndromic and non-syndromic v0.5499 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5498 TSFM Zornitza Stark Marked gene: TSFM as ready
Intellectual disability syndromic and non-syndromic v0.5498 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5498 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM#610505
Intellectual disability syndromic and non-syndromic v0.5497 TSFM Zornitza Stark Publications for gene: TSFM were set to
Intellectual disability syndromic and non-syndromic v0.5496 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5495 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5495 TSHB Zornitza Stark Marked gene: TSHB as ready
Intellectual disability syndromic and non-syndromic v0.5495 TSHB Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5495 TSHB Zornitza Stark Phenotypes for gene: TSHB were changed from to Central congenital hypothyroidism Orphanet:226298
Intellectual disability syndromic and non-syndromic v0.5494 TSHB Zornitza Stark Publications for gene: TSHB were set to
Intellectual disability syndromic and non-syndromic v0.5493 TSHB Zornitza Stark Mode of inheritance for gene: TSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5492 TSHB Zornitza Stark reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central congenital hypothyroidism Orphanet:226298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Deafness_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Classified gene: ATP6V1B2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.164 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.163 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Deafness_IsolatedAndComplex v1.163 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.163 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 to Nail-patella syndrome (MIM#161200), MONDO:0008061
Deafness_IsolatedAndComplex v1.162 LMX1B Zornitza Stark Classified gene: LMX1B as Green List (high evidence)
Deafness_IsolatedAndComplex v1.162 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.14 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Autoinflammatory Disorders v1.14 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.14 IRAK4 Zornitza Stark Phenotypes for gene: IRAK4 were changed from neuroinflammation, systemic autoinflammation, splenomegaly, and anemia to Autoinflammatory syndrome, MONDO:0019751, IRAK4-related
Autoinflammatory Disorders v1.13 IRAK4 Zornitza Stark Classified gene: IRAK4 as Green List (high evidence)
Autoinflammatory Disorders v1.13 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.12 IRAK4 Zornitza Stark reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, IRAK4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.69 SNAPC4 Zornitza Stark Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515
Intellectual disability syndromic and non-syndromic v0.5492 SNAPC4 Zornitza Stark Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515
Microcephaly v1.232 SNAPC4 Zornitza Stark Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515
Mendeliome v1.1226 SNAPC4 Zornitza Stark Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515
Disorders of immune dysregulation v0.180 PLCG1 Zornitza Stark Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514
Mendeliome v1.1225 PLCG1 Zornitza Stark Phenotypes for gene: PLCG1 were changed from Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation to Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514
Mendeliome v1.1224 PLCG1 Zornitza Stark edited their review of gene: PLCG1: Changed phenotypes: Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514
Autoinflammatory Disorders v1.12 IL36RN Peter McNaughton reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25458002; Phenotypes: Autoinflammation; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5491 TSEN54 Kaitlyn Dianna Weldon reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301773; Phenotypes: pontocerebellar hypoplasia type 2A MONDO:0010190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5491 TSFM Kaitlyn Dianna Weldon reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 25037205, 33816677, 31451716, 22499341; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5491 TSHB Kaitlyn Dianna Weldon reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15292359, 27362444; Phenotypes: Central congenital hypothyroidism Orphanet:226298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.161 ATP6V1B2 Manny Jacobs gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: ATP6V1B2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1B2 were set to PMID: 24913193; 28396750; 34746137; 32873933; 25915598
Phenotypes for gene: ATP6V1B2 were set to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy
Review for gene: ATP6V1B2 was set to GREEN
Added comment: Pathogenic variation in this gene is associated with a group of syndromes with clinical overlap, though deafness is a common feature.

PMID: 32873933; 28396750 - recurrent truncating variant (NM_001693.4:c.1516C>T; p.Arg506*) with a supporting mouse model (PMID: 34746137).
Sources: Literature
Deafness_IsolatedAndComplex v1.161 LMX1B Manny Jacobs gene: LMX1B was added
gene: LMX1B was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMX1B were set to PMID: 27450397, 32457516, 15928687
Phenotypes for gene: LMX1B were set to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Review for gene: LMX1B was set to GREEN
Added comment: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy).

PMID 15928687 - reports 11 individuals across four families with sensorineural hearing impairment and NPS.
Sources: Literature
Autoinflammatory Disorders v1.12 IRAK4 Peter McNaughton gene: IRAK4 was added
gene: IRAK4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRAK4 were set to PMID: 37744344
Phenotypes for gene: IRAK4 were set to neuroinflammation, systemic autoinflammation, splenomegaly, and anemia
Review for gene: IRAK4 was set to GREEN
Added comment: 5 patients from 2 unrelated kindreds with bi-allelic mutations in IRAK4, resulting in a severe autoinflammatory phenotype without overt immune deficiency, presenting with fever without infection, increased inflammatory markers, massive splenomegaly, transfusion dependent anemia; and severe neuroinflammation in 3/5 cases.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.316 CPEB1 Zornitza Stark Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related
Mendeliome v1.1224 CPEB1 Zornitza Stark Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related
Pancreatitis v1.5 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related
Pancreatitis v1.4 CPA1 Zornitza Stark edited their review of gene: CPA1: Changed phenotypes: Hereditary pancreatitis, MONDO:0008185, CPA1-related
Mendeliome v1.1223 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related
Mendeliome v1.1222 CPA1 Zornitza Stark edited their review of gene: CPA1: Changed phenotypes: Hereditary pancreatitis, MONDO:0008185, CPA1-related
Palmoplantar Keratoderma and Erythrokeratoderma v0.129 COL14A1 Zornitza Stark Phenotypes for gene: COL14A1 were changed from Punctate palmoplantar keratoderma type 1B to Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related
Intellectual disability syndromic and non-syndromic v0.5491 CNTN6 Zornitza Stark Phenotypes for gene: CNTN6 were changed from Intellectual disability; autism; Tourette syndrome; schizophrenia to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related
Intellectual disability syndromic and non-syndromic v0.5490 CNTN6 Zornitza Stark edited their review of gene: CNTN6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CNTN6-related
Mendeliome v1.1222 CNTN6 Zornitza Stark Phenotypes for gene: CNTN6 were changed from Intellectual disability; autism; Tourette syndrome; schizophrenia to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related
Mendeliome v1.1221 CNTN6 Zornitza Stark edited their review of gene: CNTN6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CNTN6-related
Intellectual disability syndromic and non-syndromic v0.5490 CNTN3 Zornitza Stark Phenotypes for gene: CNTN3 were changed from to Neurodevelopmental disorder, MONDO:0700092, CNTN3-related
Intellectual disability syndromic and non-syndromic v0.5489 CNTN3 Zornitza Stark edited their review of gene: CNTN3: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CNTN3-related
Mendeliome v1.1221 CNTN3 Zornitza Stark Phenotypes for gene: CNTN3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CNTN3-related
Mendeliome v1.1220 CNTN2 Zornitza Stark Phenotypes for gene: CNTN2 were changed from Epilepsy to Epilepsy, MONDO:0015653, CNTN2-related
Genetic Epilepsy v0.1922 CNTN2 Zornitza Stark Publications for gene: CNTN2 were set to 23518707
Genetic Epilepsy v0.1921 CNTN2 Zornitza Stark Phenotypes for gene: CNTN2 were changed from Epilepsy to Epilepsy, MONDO:0015653, CNTN2-related
Mendeliome v1.1219 CNKSR1 Zornitza Stark Phenotypes for gene: CNKSR1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related
Intellectual disability syndromic and non-syndromic v0.5489 CNKSR1 Zornitza Stark Phenotypes for gene: CNKSR1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related
Intellectual disability syndromic and non-syndromic v0.5488 CMAS Zornitza Stark Phenotypes for gene: CMAS were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CMAS-related
Intellectual disability syndromic and non-syndromic v0.5487 CMAS Zornitza Stark edited their review of gene: CMAS: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CMAS-related
Mendeliome v1.1218 CMAS Zornitza Stark Phenotypes for gene: CMAS were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CMAS-related
Mendeliome v1.1217 CHST8 Zornitza Stark Phenotypes for gene: CHST8 were changed from Peeling skin syndrome to Peeling skin syndrome, MONDO:0019347, CHST8-realted
Defects of intrinsic and innate immunity v0.128 CASP4 Peter McNaughton gene: CASP4 was added
gene: CASP4 was added to Defects of innate immunity. Sources: Literature
Mode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP4 were set to PMID: 37647624
Phenotypes for gene: CASP4 were set to Susceptibility to meliodiosis
Review for gene: CASP4 was set to RED
Added comment: Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support.
Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis.
Sources: Literature
Susceptibility to Viral Infections v0.113 PLCG2 Peter McNaughton gene: PLCG2 was added
gene: PLCG2 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLCG2 were set to PMID: 37714437
Phenotypes for gene: PLCG2 were set to Susceptibility to herpes virus
Review for gene: PLCG2 was set to GREEN
Added comment: Patients from two unrelated nonconsanguineous families with PLCG2 haploinsufficiency, characterized by herpesvirus infections and reduced NK cell killing. A mouse model of haploinsufficiency was validated by comparing wildtype (Plcg2+/+) and Plcg2+/- mice, NK cell maturation was increased in Plcg2+/- mice, NK1.1-induced calcium flux was attenuated in Plcg2+/- NK cells, NK cell killing of RMA-S target cells was inhibited in Plcg2+/- mice
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5487 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Intellectual disability syndromic and non-syndromic v0.5487 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5487 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to trichohepatoenteric syndrome 1 MONDO:0024541
Intellectual disability syndromic and non-syndromic v0.5486 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Intellectual disability syndromic and non-syndromic v0.5485 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5484 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5484 NCKAP1 Ain Roesley Phenotypes for gene: NCKAP1 were changed from Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
Intellectual disability syndromic and non-syndromic v0.5483 NCKAP1 Ain Roesley Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
Mendeliome v1.1216 NCKAP1 Ain Roesley Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
Autism v0.192 NCKAP1 Ain Roesley Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
Fetal anomalies v1.148 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Clefting disorders v0.242 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Clefting disorders v0.241 PPP1R13L Zornitza Stark edited their review of gene: PPP1R13L: Changed phenotypes: Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Cardiomyopathy_Paediatric v0.170 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Cardiomyopathy_Paediatric v0.169 PPP1R13L Zornitza Stark edited their review of gene: PPP1R13L: Changed phenotypes: Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Mendeliome v1.1215 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Mendeliome v1.1214 PPP1R13L Zornitza Stark edited their review of gene: PPP1R13L: Changed phenotypes: Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519
Skeletal Dysplasia_Fetal v0.210 SP7 Zornitza Stark Marked gene: SP7 as ready
Skeletal Dysplasia_Fetal v0.210 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.210 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta, type XII, MIM# 613849
Skeletal Dysplasia_Fetal v0.209 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.208 SP7 Zornitza Stark Classified gene: SP7 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.208 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Classified gene: SERPINF1 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.147 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Fetal anomalies v1.147 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.147 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Fetal anomalies v1.147 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.146 GNPNAT1 Zornitza Stark gene: GNPNAT1 was added
gene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Review for gene: GNPNAT1 was set to AMBER
Added comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped.
Sources: Expert Review
Liverome Superpanel v1.1 Bryony Thompson Panel status changed from internal to public
Liverome Superpanel v1.0 Bryony Thompson Added Panel Liverome Superpanel
Set list of related panels to Abnormality of the liver; HP:0001392
Set child panels to: Liver Failure_Paediatric; Polycystic liver disease; Cholestasis; Porphyria
Set panel types to: Melbourne Genomics; Royal Melbourne Hospital
Genetic Epilepsy v0.1920 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1 MIM#604364; Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092 to Epilepsy, familial focal, with variable foci 1 MIM#604364; Developmental and epileptic encephalopathy 111, MIM# 620504
Mendeliome v1.1214 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1, MIM#604364 to Epilepsy, familial focal, with variable foci 1, MIM#604364; Developmental and epileptic encephalopathy 111, MIM# 620504
Mendeliome v1.1213 CELA3B Zornitza Stark Phenotypes for gene: CELA3B were changed from Chronic pancreatitis to Chronic pancreatitis, MONDO:0008185, CELA3B-related
Mendeliome v1.1212 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related
Mendeliome v1.1211 CDK5R1 Zornitza Stark edited their review of gene: CDK5R1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related
Mendeliome v1.1211 ASTN2 Zornitza Stark Phenotypes for gene: ASTN2 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ASTN2-related
Mendeliome v1.1210 ASTN2 Zornitza Stark Publications for gene: ASTN2 were set to 28940097
Mendeliome v1.1209 CBY1 Zornitza Stark Phenotypes for gene: CBY1 were changed from intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome to Joubert syndrome, MONDO:0018772, CBY1-related
Mendeliome v1.1208 CAPZA2 Zornitza Stark Phenotypes for gene: CAPZA2 were changed from intellectual disability to Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related
Mendeliome v1.1207 CACNB1 Zornitza Stark Phenotypes for gene: CACNB1 were changed from Malignant hyperthermia susceptibility to Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related
Mendeliome v1.1206 CACNB1 Zornitza Stark edited their review of gene: CACNB1: Changed rating: RED; Changed phenotypes: Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related
Mendeliome v1.1206 C1orf194 Zornitza Stark Phenotypes for gene: C1orf194 were changed from Charcot-Marie-Tooth disease, intermediate or demyelinating to Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194-related
Mendeliome v1.1205 C1orf194 Zornitza Stark edited their review of gene: C1orf194: Changed rating: AMBER; Changed phenotypes: Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5482 BLOC1S1 Zornitza Stark Phenotypes for gene: BLOC1S1 were changed from severe intellectual disability; severe global developmental delay; epilepsy to Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related
Intellectual disability syndromic and non-syndromic v0.5481 BLOC1S1 Zornitza Stark edited their review of gene: BLOC1S1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related
Mendeliome v1.1205 BLOC1S1 Zornitza Stark Phenotypes for gene: BLOC1S1 were changed from severe intellectual disability; severe global developmental delay; epilepsy to Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related
Mendeliome v1.1204 BLOC1S1 Zornitza Stark edited their review of gene: BLOC1S1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related
Mendeliome v1.1204 BET1 Zornitza Stark Phenotypes for gene: BET1 were changed from Muscular dystrophy; Epilepsy to Muscular dystrophy, MONDO:0019950, BET1-related; Epilepsy
Mendeliome v1.1203 BCL9L Zornitza Stark Phenotypes for gene: BCL9L were changed from Heterotaxy; Congenital Heart Disease to Heterotaxy syndrome, MONDO:0018677, BCL9L-related
Mendeliome v1.1202 BCL9L Zornitza Stark edited their review of gene: BCL9L: Changed phenotypes: Heterotaxy syndrome, MONDO:0018677, BCL9L
Mendeliome v1.1202 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy to Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related
Mendeliome v1.1201 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related
Mendeliome v1.1201 AXL Zornitza Stark Phenotypes for gene: AXL were changed from Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism to Kallman syndrome, MONDO:0018800, AXL-related; normosmic idiopathic hypogonadotropic hypogonadism
Mendeliome v1.1200 ATXN2L Zornitza Stark Phenotypes for gene: ATXN2L were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ATXN2L-related
Mendeliome v1.1199 ATRIP Zornitza Stark Phenotypes for gene: ATRIP were changed from Seckel Syndrome to Seckel Syndrome, MONDO:0019342, ATRIP-related
Mendeliome v1.1198 ATP2B4 Zornitza Stark Phenotypes for gene: ATP2B4 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related
Intellectual disability syndromic and non-syndromic v0.5481 ASTN2 Zornitza Stark Marked gene: ASTN2 as ready
Intellectual disability syndromic and non-syndromic v0.5481 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5481 ASTN2 Zornitza Stark Classified gene: ASTN2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5481 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1197 ASTN2 Zornitza Stark Mode of inheritance for gene: ASTN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5480 ASTN2 Zornitza Stark gene: ASTN2 was added
gene: ASTN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ASTN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ASTN2 were set to 28940097; 34412080; 27138430
Phenotypes for gene: ASTN2 were set to Neurodevelopmental disorder, MONDO:0700092, ASTN2-related
Review for gene: ASTN2 was set to AMBER
Added comment: Candidate gene reported by Anazi et al; rare CNVs also reported; other circumstantial evidence.
Sources: Literature
Mendeliome v1.1196 ASTN2 Zornitza Stark edited their review of gene: ASTN2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1196 ASTN2 Zornitza Stark edited their review of gene: ASTN2: Changed publications: 28940097, 34412080, 27138430
Mendeliome v1.1196 ASTN2 Zornitza Stark edited their review of gene: ASTN2: Added comment: Rare CNVs also reported.; Changed publications: 28940097, 34412080
Mendeliome v1.1196 ASTN2 Zornitza Stark edited their review of gene: ASTN2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ASTN2-related
Mendeliome v1.1196 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from Polymicrogyria; hypoplastic corpus callosum to Cerebral malformation, MONDO:0016054, ASTN1-related
Mendeliome v1.1195 ASTN1 Zornitza Stark edited their review of gene: ASTN1: Changed phenotypes: Cerebral malformation, MONDO:0016054, ASTN1-related
Intellectual disability syndromic and non-syndromic v0.5479 TTC37 Kaitlyn Dianna Weldon reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334452; Phenotypes: trichohepatoenteric syndrome 1 MONDO:0024541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Marked gene: GYG1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Gene: gyg1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Classified gene: GYG1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Gene: gyg1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.25 GYG1 Bryony Thompson gene: GYG1 was added
gene: GYG1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYG1 were set to 29422440; 32477874; 32528171
Phenotypes for gene: GYG1 were set to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507
Review for gene: GYG1 was set to GREEN
gene: GYG1 was marked as current diagnostic
Added comment: Limb-girdle muscle weakness can be a feature of this myopathy.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.79 ARIH1 Zornitza Stark Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related
Mendeliome v1.1195 ARIH1 Zornitza Stark Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related
Fetal anomalies v1.145 ARHGAP29 Zornitza Stark Phenotypes for gene: ARHGAP29 were changed from Cleft palate; cleft lip with or without cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related
Clefting disorders v0.241 ARHGAP29 Zornitza Stark Phenotypes for gene: ARHGAP29 were changed from cleft lip with or without cleft palate; Cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related
Mendeliome v1.1194 ARHGAP29 Zornitza Stark Phenotypes for gene: ARHGAP29 were changed from Cleft palate; cleft lip with or without cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related
Mendeliome v1.1193 ARHGAP29 Zornitza Stark edited their review of gene: ARHGAP29: Changed phenotypes: Clefting disorder, MONDO:0000358, ARHGAP29-related
Proteinuria v0.221 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from FSGS to FSGS, MONDO:0005363, ARHGAP24-related
Proteinuria v0.220 ARHGAP24 Zornitza Stark edited their review of gene: ARHGAP24: Changed phenotypes: FSGS, MONDO:0005363, ARHGAP24-related
Mendeliome v1.1193 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from FSGS to FSGS, MONDO:0005363, ARHGAP24-related
Mendeliome v1.1192 ARHGAP24 Zornitza Stark edited their review of gene: ARHGAP24: Changed phenotypes: FSGS, MONDO:0005363, ARHGAP24-related
Mendeliome v1.1192 ARFGEF3 Zornitza Stark Phenotypes for gene: ARFGEF3 were changed from Dystonia to Dystonia, MONDO:0044807, ARFGEF3-related
Mendeliome v1.1191 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder, MONDO:0700092, ARF3-related
Mendeliome v1.1190 ARAP3 Zornitza Stark Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297, ARAP3-related
Mendeliome v1.1189 ARAP3 Zornitza Stark edited their review of gene: ARAP3: Changed phenotypes: Lymphoedema, MONDO:0019297, ARAP3-related
Intellectual disability syndromic and non-syndromic v0.5479 MCCC1 Bryony Thompson Marked gene: MCCC1 as ready
Intellectual disability syndromic and non-syndromic v0.5479 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5479 MCCC1 Bryony Thompson Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias
Mendeliome v1.1189 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to 27604308; 11170888; 31730530
Intellectual disability syndromic and non-syndromic v0.5478 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to
Aminoacidopathy v1.5 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to 29152456; 31730530; 27604308; 11170888
Miscellaneous Metabolic Disorders v1.31 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to 27604308; 11170888
Miscellaneous Metabolic Disorders v1.30 MCCC1 Bryony Thompson reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5477 MCCC1 Bryony Thompson Mode of inheritance for gene: MCCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.4 MCCC1 Bryony Thompson reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5476 MCCC1 Bryony Thompson Classified gene: MCCC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5476 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5475 MCCC1 Bryony Thompson reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1188 MCCC1 Bryony Thompson reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.4 MCCC1 Bryony Thompson Deleted their review
Miscellaneous Metabolic Disorders v1.30 MCCC1 Bryony Thompson Deleted their review
Mendeliome v1.1188 MCCC1 Bryony Thompson Deleted their review
Mendeliome v1.1188 AP1B1 Zornitza Stark Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150
Mendeliome v1.1187 AP1B1 Zornitza Stark edited their review of gene: AP1B1: Changed phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150
Mendeliome v1.1187 ANKZF1 Zornitza Stark Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related
Inflammatory bowel disease v0.109 ANKZF1 Zornitza Stark Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.315 ANKRD31 Zornitza Stark Phenotypes for gene: ANKRD31 were changed from Premature ovarian failure to Premature ovarian failure, MONDO:0019852, ANKDR31-related
Mendeliome v1.1186 ANKRD31 Zornitza Stark Phenotypes for gene: ANKRD31 were changed from Premature ovarian failure to Premature ovarian failure, MONDO:0019852, ANKRD31-related
Mendeliome v1.1185 AMBRA1 Zornitza Stark Phenotypes for gene: AMBRA1 were changed from Neural tube defects to Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related
Mendeliome v1.1184 ALPI Zornitza Stark Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related
Mendeliome v1.1183 ALPI Zornitza Stark edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related
Inflammatory bowel disease v0.108 ALPI Zornitza Stark Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related
Inflammatory bowel disease v0.107 ALPI Zornitza Stark edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related
Genetic Epilepsy v0.1919 ALG10 Zornitza Stark Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Genetic Epilepsy v0.1918 ALG10 Zornitza Stark edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Congenital Disorders of Glycosylation v1.36 ALG10 Zornitza Stark Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Mendeliome v1.1183 ALG10 Zornitza Stark Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Mendeliome v1.1182 ALG10 Zornitza Stark edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Mendeliome v1.1182 AKR1E2 Zornitza Stark Phenotypes for gene: AKR1E2 were changed from congenital cataracts to Cataract, MONDO:0005129, AKR1E2-related
Mendeliome v1.1181 AKR1E2 Zornitza Stark edited their review of gene: AKR1E2: Changed phenotypes: Cataract, MONDO:0005129, AKR1E2-related
Cataract v0.357 AKR1E2 Zornitza Stark Phenotypes for gene: AKR1E2 were changed from congenital cararact to Cataract, MONDO:0005129, AKR1E2-related
Cataract v0.356 AKR1E2 Zornitza Stark reviewed gene: AKR1E2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract, MONDO:0005129, AKR1E2-related; Mode of inheritance: None
Mendeliome v1.1181 AKNA Zornitza Stark Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related
Mendeliome v1.1180 AKNA Zornitza Stark reviewed gene: AKNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, MONDO:0016575, AKNA-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.35 AKNA Zornitza Stark Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related
Ciliary Dyskinesia v1.34 AKNA Zornitza Stark edited their review of gene: AKNA: Changed phenotypes: Primary ciliary dyskinesia, MONDO:0016575, AKNA-related
Intellectual disability syndromic and non-syndromic v0.5475 AKAP6 Zornitza Stark Phenotypes for gene: AKAP6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AKAP6-related
Intellectual disability syndromic and non-syndromic v0.5474 AKAP6 Zornitza Stark edited their review of gene: AKAP6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, AKAP6-related
Mendeliome v1.1180 AKAP6 Zornitza Stark Phenotypes for gene: AKAP6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AKAP6-related
Mendeliome v1.1179 AKAP6 Zornitza Stark edited their review of gene: AKAP6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, AKAP6-related
Mendeliome v1.1179 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AGO3-related
Microcephaly v1.231 AGMO Zornitza Stark Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related
Genetic Epilepsy v0.1918 AGMO Zornitza Stark Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related
Intellectual disability syndromic and non-syndromic v0.5474 AGMO Zornitza Stark Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related
Mendeliome v1.1178 AGMO Zornitza Stark Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related
Mendeliome v1.1177 AGMO Zornitza Stark reviewed gene: AGMO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, AGMO-related; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5473 ACTL6A Zornitza Stark Phenotypes for gene: ACTL6A were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related
Intellectual disability syndromic and non-syndromic v0.5472 ACTL6A Zornitza Stark edited their review of gene: ACTL6A: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related
Mendeliome v1.1177 ACTL6A Zornitza Stark Phenotypes for gene: ACTL6A were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related
Mendeliome v1.1176 ACTL6A Zornitza Stark edited their review of gene: ACTL6A: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related
Mendeliome v1.1176 ACER3 Zornitza Stark Classified gene: ACER3 as Green List (high evidence)
Mendeliome v1.1176 ACER3 Zornitza Stark Gene: acer3 has been classified as Green List (High Evidence).
Mendeliome v1.1175 ACADL Zornitza Stark Phenotypes for gene: ACADL were changed from Pulmonary surfactant dysfunction to Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related
Mendeliome v1.1174 ACADL Zornitza Stark edited their review of gene: ACADL: Changed phenotypes: Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related
Mendeliome v1.1174 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029
Paroxysmal Dyskinesia v0.125 ABAT Zornitza Stark Marked gene: ABAT as ready
Paroxysmal Dyskinesia v0.125 ABAT Zornitza Stark Gene: abat has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.125 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia to GABA-transaminase deficiency, MIM# 613163; intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia
Paroxysmal Dyskinesia v0.124 ABAT Zornitza Stark Classified gene: ABAT as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.124 ABAT Zornitza Stark Gene: abat has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.123 PDE2A Zornitza Stark Publications for gene: PDE2A were set to 32467598; 32196122; 29392776
Paroxysmal Dyskinesia v0.122 XPR1 Zornitza Stark Marked gene: XPR1 as ready
Paroxysmal Dyskinesia v0.122 XPR1 Zornitza Stark Gene: xpr1 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.122 XPR1 Zornitza Stark Phenotypes for gene: XPR1 were changed from brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE to Basal ganglia calcification, idiopathic, 6, MIM# 616413; brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE
Paroxysmal Dyskinesia v0.121 XPR1 Zornitza Stark Classified gene: XPR1 as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.121 XPR1 Zornitza Stark Gene: xpr1 has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Paroxysmal Dyskinesia v0.120 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.119 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy to Syndromic disorder, MONDO:0002254, CLDN5-related; familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy
Paroxysmal Dyskinesia v0.119 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Paroxysmal Dyskinesia v0.119 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.118 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Paroxysmal Dyskinesia v0.118 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.118 KIAA1161 Zornitza Stark Phenotypes for gene: KIAA1161 were changed from paroxysmal dyskinesia; brain calcification; episodic hemiparesis to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317; paroxysmal dyskinesia; brain calcification; episodic hemiparesis
Paroxysmal Dyskinesia v0.117 KIAA1161 Zornitza Stark Classified gene: KIAA1161 as Green List (high evidence)
Paroxysmal Dyskinesia v0.117 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.116 PRKN Zornitza Stark Marked gene: PRKN as ready
Paroxysmal Dyskinesia v0.116 PRKN Zornitza Stark Gene: prkn has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.116 PRKN Zornitza Stark Phenotypes for gene: PRKN were changed from paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism to Parkinson disease, juvenile, type 2 MIM#600116; paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism
Paroxysmal Dyskinesia v0.115 PRKN Zornitza Stark Classified gene: PRKN as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.115 PRKN Zornitza Stark Gene: prkn has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.114 NBEA Zornitza Stark Marked gene: NBEA as ready
Paroxysmal Dyskinesia v0.114 NBEA Zornitza Stark Gene: nbea has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.114 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability
Paroxysmal Dyskinesia v0.113 NBEA Zornitza Stark Classified gene: NBEA as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.113 NBEA Zornitza Stark Gene: nbea has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5472 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Intellectual disability syndromic and non-syndromic v0.5472 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5472 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to complex cortical dysplasia with other brain malformations 1 MONDO:0013541
Intellectual disability syndromic and non-syndromic v0.5471 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Intellectual disability syndromic and non-syndromic v0.5470 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5469 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Intellectual disability syndromic and non-syndromic v0.5469 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5469 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from to hypomyelinating leukodystrophy 6 MONDO:0012905
Intellectual disability syndromic and non-syndromic v0.5468 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Intellectual disability syndromic and non-syndromic v0.5467 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5466 TH Zornitza Stark Marked gene: TH as ready
Intellectual disability syndromic and non-syndromic v0.5466 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5466 TH Zornitza Stark Phenotypes for gene: TH were changed from to Segawa syndrome, recessive MIM#605407
Intellectual disability syndromic and non-syndromic v0.5465 TH Zornitza Stark Publications for gene: TH were set to
Intellectual disability syndromic and non-syndromic v0.5464 TH Zornitza Stark Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5463 TH Zornitza Stark Tag treatable tag was added to gene: TH.
Intellectual disability syndromic and non-syndromic v0.5463 PTEN Zornitza Stark Marked gene: PTEN as ready
Intellectual disability syndromic and non-syndromic v0.5463 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5463 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1 MIM#158350; Macrocephaly/autism syndrome MIM#605309
Intellectual disability syndromic and non-syndromic v0.5462 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5461 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Intellectual disability syndromic and non-syndromic v0.5461 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5461 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to complex cortical dysplasia with other brain malformations 4 MONDO:0014171
Intellectual disability syndromic and non-syndromic v0.5460 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Intellectual disability syndromic and non-syndromic v0.5459 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5458 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Intellectual disability syndromic and non-syndromic v0.5458 TWIST1 Zornitza Stark Gene: twist1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5458 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from to Saethre-Chotzen syndrome MONDO:0007042
Intellectual disability syndromic and non-syndromic v0.5457 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Intellectual disability syndromic and non-syndromic v0.5456 TWIST1 Zornitza Stark Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5455 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Intellectual disability syndromic and non-syndromic v0.5455 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5455 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Intellectual disability syndromic and non-syndromic v0.5454 UBA5 Zornitza Stark Publications for gene: UBA5 were set to 33811063
Intellectual disability syndromic and non-syndromic v0.5453 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Intellectual disability syndromic and non-syndromic v0.5452 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5451 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Intellectual disability syndromic and non-syndromic v0.5451 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5451 UBE3A Zornitza Stark Phenotypes for gene: UBE3A were changed from to Angelman syndrome MONDO:0007113
Intellectual disability syndromic and non-syndromic v0.5450 UBE3A Zornitza Stark Publications for gene: UBE3A were set to
Intellectual disability syndromic and non-syndromic v0.5449 UBE3A Zornitza Stark Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.5448 SDHA Zornitza Stark Marked gene: SDHA as ready
Intellectual disability syndromic and non-syndromic v0.5448 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5448 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1 MIM#252011
Intellectual disability syndromic and non-syndromic v0.5447 SDHA Zornitza Stark Publications for gene: SDHA were set to
Intellectual disability syndromic and non-syndromic v0.5446 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5445 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Intellectual disability syndromic and non-syndromic v0.5445 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5445 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542
Intellectual disability syndromic and non-syndromic v0.5444 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Intellectual disability syndromic and non-syndromic v0.5443 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5442 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Intellectual disability syndromic and non-syndromic v0.5442 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5442 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from to Cohen syndrome MONDO:0008999
Intellectual disability syndromic and non-syndromic v0.5441 VPS13B Zornitza Stark Publications for gene: VPS13B were set to
Intellectual disability syndromic and non-syndromic v0.5440 VPS13B Zornitza Stark Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1173 SEMA3E Lucy Spencer reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029, 35628442, 32441320; Phenotypes: CHARGE syndrome MONDO:0008965, SEMA3E-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.144 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Neurodevelopmental disorder MONDO#0700092, SCAF4-related to Fliedner-Zweier syndrome, MIM#620511
Fetal anomalies v1.143 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5439 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Mild intellectual disability; seizures; behavioral abnormalities to Fliedner-Zweier syndrome, MIM#620511
Intellectual disability syndromic and non-syndromic v0.5438 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1917 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Mild intellectual disability; seizures; behavioral abnormalities to Fliedner-Zweier syndrome, MIM#620511
Genetic Epilepsy v0.1916 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1173 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Mild intellectual disability; seizures; behavioral abnormalities to Fliedner-Zweier syndrome, MIM#620511
Mendeliome v1.1172 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5438 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Intellectual disability syndromic and non-syndromic v0.5438 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5438 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to pontocerebellar hypoplasia type 1A MONDO:0011866
Intellectual disability syndromic and non-syndromic v0.5437 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Intellectual disability syndromic and non-syndromic v0.5436 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; neurodegeneration with brain iron accumulation 5 MONDO:0010476
Intellectual disability syndromic and non-syndromic v0.5434 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Intellectual disability syndromic and non-syndromic v0.5433 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5432 WDR73 Zornitza Stark Marked gene: WDR73 as ready
Intellectual disability syndromic and non-syndromic v0.5432 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5432 WDR73 Zornitza Stark Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MONDO:0033005
Intellectual disability syndromic and non-syndromic v0.5431 WDR73 Zornitza Stark Publications for gene: WDR73 were set to
Intellectual disability syndromic and non-syndromic v0.5430 WDR73 Zornitza Stark Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5429 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Intellectual disability syndromic and non-syndromic v0.5429 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5429 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Myhre syndrome MIM#139210
Intellectual disability syndromic and non-syndromic v0.5428 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Intellectual disability syndromic and non-syndromic v0.5427 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5426 WWOX Zornitza Stark Marked gene: WWOX as ready
Intellectual disability syndromic and non-syndromic v0.5426 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5426 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from to developmental and epileptic encephalopathy, 28 MONDO:0014533; autosomal recessive spinocerebellar ataxia 12 MONDO:0013687
Intellectual disability syndromic and non-syndromic v0.5425 WWOX Zornitza Stark Publications for gene: WWOX were set to
Intellectual disability syndromic and non-syndromic v0.5424 WWOX Zornitza Stark Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5423 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Intellectual disability syndromic and non-syndromic v0.5423 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5423 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction MIM#616541, MONDO:0014686
Intellectual disability syndromic and non-syndromic v0.5422 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to
Intellectual disability syndromic and non-syndromic v0.5421 XRCC4 Zornitza Stark Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5420 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Intellectual disability syndromic and non-syndromic v0.5420 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5420 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7 MIM#610031
Intellectual disability syndromic and non-syndromic v0.5419 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Intellectual disability syndromic and non-syndromic v0.5418 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5417 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Intellectual disability syndromic and non-syndromic v0.5417 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5417 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from to Syndromic X-linked intellectual disability Raymond type MONDO:0010427
Intellectual disability syndromic and non-syndromic v0.5416 ZDHHC9 Zornitza Stark Publications for gene: ZDHHC9 were set to
Intellectual disability syndromic and non-syndromic v0.5415 ZDHHC9 Zornitza Stark Mode of inheritance for gene: ZDHHC9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5414 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Intellectual disability syndromic and non-syndromic v0.5414 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5414 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from to Spastic paraplegia 15, autosomal recessive, MIM# 270700; hereditary spastic paraplegia 15, MONDO:0010044
Intellectual disability syndromic and non-syndromic v0.5413 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Intellectual disability syndromic and non-syndromic v0.5412 ZFYVE26 Zornitza Stark Mode of inheritance for gene: ZFYVE26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5411 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Intellectual disability syndromic and non-syndromic v0.5411 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5411 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5 MONDO:0012322
Intellectual disability syndromic and non-syndromic v0.5410 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Intellectual disability syndromic and non-syndromic v0.5409 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5408 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Intellectual disability syndromic and non-syndromic v0.5408 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5408 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis MIM#191100
Intellectual disability syndromic and non-syndromic v0.5407 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
Intellectual disability syndromic and non-syndromic v0.5406 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5405 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Intellectual disability syndromic and non-syndromic v0.5405 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5405 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis MIM#613254
Intellectual disability syndromic and non-syndromic v0.5404 TSC2 Zornitza Stark Publications for gene: TSC2 were set to
Intellectual disability syndromic and non-syndromic v0.5403 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1172 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 to Krithika Murali (Victorian Clinical Genetics Services) 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Current 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Edit; 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779
Mendeliome v1.1171 NR2F2 Zornitza Stark Publications for gene: NR2F2 were set to 24702954; 29478779; 31687637; 27363585; 29222010; 29663647
Mendeliome v1.1170 NR2F2 Zornitza Stark reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37500725; Phenotypes: Syndromic disease, MONDO:0002254, NR2F2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.283 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46XX sex reversal 5, MIM# 618901
Differences of Sex Development v0.282 NR2F2 Zornitza Stark edited their review of gene: NR2F2: Changed phenotypes: 46XX sex reversal 5, MIM# 618901
Intellectual disability syndromic and non-syndromic v0.5402 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Intellectual disability syndromic and non-syndromic v0.5402 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5402 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features to Syndromic disease, MONDO:0002254, NR2F2-related
Intellectual disability syndromic and non-syndromic v0.5401 NR2F2 Zornitza Stark Publications for gene: NR2F2 were set to 29478779; 29663647
Intellectual disability syndromic and non-syndromic v0.5400 NR2F2 Zornitza Stark Classified gene: NR2F2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5400 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Mendeliome v1.1170 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Ichthyosis (MONDO#0019269), DBR1-related to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510
Ichthyosis and Porokeratosis v1.9 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from Ichthyosis (MONDO#0019269), DBR1-related to Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510
Ichthyosis and Porokeratosis v1.8 DBR1 Zornitza Stark reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark Marked gene: TRAC as ready
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark Gene: trac has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to BabyScreen+ newborn screening. Sources: Expert Review
founder, technically challenging tags were added to gene: TRAC.
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to RED
Added comment: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001)

Also note annotation issues in certain variant curation and annotation tools.
Sources: Expert Review
Mendeliome v1.1169 TRAC Zornitza Stark Tag technically challenging tag was added to gene: TRAC.
Genomic newborn screening: BabyScreen+ v1.22 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.22 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.21 NCF1 Zornitza Stark edited their review of gene: NCF1: Changed rating: AMBER
Paroxysmal Dyskinesia v0.112 ABAT Shekeeb Mohammad gene: ABAT was added
gene: ABAT was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 30617166
Phenotypes for gene: ABAT were set to intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia
Review for gene: ABAT was set to AMBER
gene: ABAT was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 PDE2A Shekeeb Mohammad reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37317634; Phenotypes: paroxysmal dyskinesia, intellectual disability, drug resistant epilepsy, progressive neurological decline, chorea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal Dyskinesia v0.112 XPR1 Shekeeb Mohammad gene: XPR1 was added
gene: XPR1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: XPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPR1 were set to 33433330
Phenotypes for gene: XPR1 were set to brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE
Review for gene: XPR1 was set to AMBER
gene: XPR1 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 CLDN5 Shekeeb Mohammad gene: CLDN5 was added
gene: CLDN5 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to 35714222; 36825455
Phenotypes for gene: CLDN5 were set to familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy
Penetrance for gene: CLDN5 were set to Incomplete
Review for gene: CLDN5 was set to GREEN
gene: CLDN5 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 KIAA1161 Shekeeb Mohammad gene: KIAA1161 was added
gene: KIAA1161 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 34346093; 34783389; 32303062
Phenotypes for gene: KIAA1161 were set to paroxysmal dyskinesia; brain calcification; episodic hemiparesis
Penetrance for gene: KIAA1161 were set to Complete
Review for gene: KIAA1161 was set to GREEN
gene: KIAA1161 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 PRKN Shekeeb Mohammad gene: PRKN was added
gene: PRKN was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to 37205242
Phenotypes for gene: PRKN were set to paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism
Penetrance for gene: PRKN were set to Incomplete
Review for gene: PRKN was set to AMBER
Added comment: Only a single report but the phenotypic description and accompanying parkinsonism make this a likely robust finding.
Sources: Literature
Paroxysmal Dyskinesia v0.112 NBEA Shekeeb Mohammad gene: NBEA was added
gene: NBEA was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 33692494
Phenotypes for gene: NBEA were set to Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to AMBER
Added comment: only one report and I have seen a poster from an independent group (not published yet)
Sources: Literature
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Tag treatable tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Tag technically challenging tag was added to gene: HBA2.
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag technically challenging tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 IKBKG Zornitza Stark Tag technically challenging tag was added to gene: IKBKG.
Genomic newborn screening: BabyScreen+ v1.21 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.21 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.20 IGHM Zornitza Stark changed review comment from: RefSeq annotation issues.; to: RefSeq annotation issues. Specific rescue loop built to capture variants.
Genomic newborn screening: BabyScreen+ v1.20 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.5399 TUBB3 Kaitlyn Dianna Weldon reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227; Phenotypes: complex cortical dysplasia with other brain malformations 1 MONDO:0013541; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TUBB4A Kaitlyn Dianna Weldon reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37529938, 35661708, 27538619, 24526230; Phenotypes: hypomyelinating leukodystrophy 6 MONDO:0012905, torsion dystonia 4 MONDO:0007493; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5399 TH Claire Fryer-Smith reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 22815559, 11196107, 10585338; Phenotypes: Segawa syndrome, recessive MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 PTEN Claire Fryer-Smith reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194675, 1859181, 23470840; Phenotypes: Cowden syndrome 1 MIM#158350, Lhermitte-Duclos disease MIM#158350, Macrocephaly/autism syndrome MIM#605309, Prostate cancer, somatic MIM#176807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TUBG1 Kaitlyn Dianna Weldon reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706637, 23603762; Phenotypes: complex cortical dysplasia with other brain malformations 4 MONDO:0014171, lissencephaly spectrum disorders MONDO:0018838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TWIST1 Kaitlyn Dianna Weldon reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301368; Phenotypes: Saethre-Chotzen syndrome MONDO:0007042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 UBA5 Kaitlyn Dianna Weldon reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811063; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 UBE3A Kaitlyn Dianna Weldon reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301323; Phenotypes: Angelman syndrome MONDO:0007113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.5399 SDHA Claire Fryer-Smith reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1492653, 23322652; Phenotypes: Cardiomyopathy, dilated, 1GG MIM#613642, Mitochondrial complex II deficiency, nuclear type 1 MIM#252011, Neurodegeneration with ataxia and late-onset optic atrophy MIM#619259, Paragangliomas MIM#614165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1169 KLK11 Zornitza Stark Marked gene: KLK11 as ready
Mendeliome v1.1169 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Mendeliome v1.1169 KLK11 Zornitza Stark Classified gene: KLK11 as Green List (high evidence)
Mendeliome v1.1169 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Mendeliome v1.1168 KLK11 Zornitza Stark gene: KLK11 was added
gene: KLK11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLK11 were set to 36689511; 37212630
Phenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507
Review for gene: KLK11 was set to GREEN
Added comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants.
Sources: Literature
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Marked gene: KLK11 as ready
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Classified gene: KLK11 as Green List (high evidence)
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.7 KLK11 Zornitza Stark gene: KLK11 was added
gene: KLK11 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLK11 were set to 36689511; 37212630
Phenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507
Review for gene: KLK11 was set to GREEN
Added comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5399 VLDLR Kaitlyn Dianna Weldon reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301729; Phenotypes: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 VPS13B Kaitlyn Dianna Weldon reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301655; Phenotypes: Cohen syndrome MONDO:0008999; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 VRK1 Kaitlyn Dianna Weldon reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678; Phenotypes: pontocerebellar hypoplasia type 1A MONDO:0011866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 WDR45 Kaitlyn Dianna Weldon reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148, neurodegeneration with brain iron accumulation 5 MONDO:0010476; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5399 WDR73 Kaitlyn Dianna Weldon reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 26123727; Phenotypes: Galloway-Mowat syndrome 1 MONDO:0033005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 SMAD4 Claire Fryer-Smith reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843046, 22243968, 7296942, 8261650; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050, Myhre syndrome MIM#139210, Pancreatic cancer, somatic MIM#260350, Polyposis, juvenile intestinal MIM#174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 WWOX Kaitlyn Dianna Weldon reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 25411445, 24369382; Phenotypes: developmental and epileptic encephalopathy, 28 MONDO:0014533, autosomal recessive spinocerebellar ataxia 12 MONDO:0013687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 XRCC4 Claire Fryer-Smith reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25872942, 25839420, 18695064; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 XRCC4 Kaitlyn Dianna Weldon reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25728776; Phenotypes: short stature, microcephaly, and endocrine dysfunction MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 TUBB2B Claire Fryer-Smith reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11425694, 23001566, 19465910, 22333901; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7 MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 ZDHHC9 Kaitlyn Dianna Weldon reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436253; Phenotypes: Syndromic X-linked intellectual disability Raymond type MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5399 ZFYVE26 Kaitlyn Dianna Weldon reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682; Phenotypes: hereditary spastic paraplegia 15 MONDO:0010044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 ZIC2 Kaitlyn Dianna Weldon reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21940735; Phenotypes: holoprosencephaly 5 MONDO:0012322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rhabdomyolysis and Metabolic Myopathy v1.1 HMBS Bryony Thompson Classified gene: HMBS as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v1.1 HMBS Bryony Thompson Gene: hmbs has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.0 HMBS Bryony Thompson reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113461, 25389600, 18647325, 36335232, 34187794, 30778035, 18816221, 15298749; Phenotypes: Porphyria, acute intermittent MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rhabdomyolysis and Metabolic Myopathy v1.0 HMBS Bryony Thompson Deleted their review
Intellectual disability syndromic and non-syndromic v0.5399 TSC1 Claire Fryer-Smith reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10533067, 18830229, 15798777, 17304050; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TSC2 Claire Fryer-Smith reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985384, 10533067, 10205261, 17304050; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 NR2F2 Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.20 NCF1 Zornitza Stark Classified gene: NCF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.20 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark edited their review of gene: NCF1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.18 NCF1 Zornitza Stark Tag technically challenging tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v1.18 NCF1 Zornitza Stark edited their review of gene: NCF1: Added comment: Mappability issues.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.18 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.18 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.17 CYP21A2 Zornitza Stark Tag treatable tag was added to gene: CYP21A2.
Tag endocrine tag was added to gene: CYP21A2.
Tag technically challenging tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v1.17 CYP21A2 Zornitza Stark edited their review of gene: CYP21A2: Added comment: Part of Victorian sNBS, therefore include, although technically challenging.; Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.17 CORO1A Zornitza Stark Tag technically challenging tag was added to gene: CORO1A.
Genomic newborn screening: BabyScreen+ v1.17 F8 Zornitza Stark Tag for review was removed from gene: F8.
Tag technically challenging tag was added to gene: F8.
Genomic newborn screening: BabyScreen+ v1.17 GBA Zornitza Stark Tag technically challenging tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v1.17 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.17 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.16 PMS2 Zornitza Stark Tag technically challenging tag was added to gene: PMS2.
Genomic newborn screening: BabyScreen+ v1.16 PMS2 Zornitza Stark edited their review of gene: PMS2: Added comment: Mappability issues.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.16 IGHM Zornitza Stark Classified gene: IGHM as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.16 IGHM Zornitza Stark Gene: ighm has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark Tag technically challenging tag was added to gene: IGHM.
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark commented on gene: IGHM: RefSeq annotation issues.
Genomic newborn screening: BabyScreen+ v1.15 STRC Zornitza Stark Classified gene: STRC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.15 STRC Zornitza Stark Gene: strc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.14 STRC Zornitza Stark Tag technically challenging tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v1.14 STRC Zornitza Stark edited their review of gene: STRC: Added comment: Technical issues with multi-mapping, therefore exclude for now.; Changed rating: AMBER
Genetic Epilepsy v0.1916 GABBR1 Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Intellectual disability syndromic and non-syndromic v0.5399 GABBR1 Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Mendeliome v1.1167 GABBR1 Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Mendeliome v1.1166 GABBR1 Zornitza Stark edited their review of gene: GABBR1: Changed phenotypes: Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Classified gene: TAB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Motor Neurone Disease v1.7 MATR3 Bryony Thompson Publications for gene: MATR3 were set to
Motor Neurone Disease v1.6 MATR3 Bryony Thompson Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v1.43 REL Peter McNaughton reviewed gene: REL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34623332; Phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Marked gene: KCNA5 as ready
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Phenotypes for gene: KCNA5 were changed from Atrial fibrillation to Atrial fibrillation, familial, 7, MIM# 612240
Genomic newborn screening: BabyScreen+ v1.13 KCNA5 Zornitza Stark Classified gene: KCNA5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.13 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 KCNA5 Zornitza Stark reviewed gene: KCNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Classified gene: GABRG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Classified gene: GABRG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.11 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Gene: dkc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, MIM# 305000; Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM# 305000
Genomic newborn screening: BabyScreen+ v1.10 DKC1 Zornitza Stark Classified gene: DKC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.10 DKC1 Zornitza Stark Gene: dkc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.9 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Phenotypes for gene: CDKN2A were changed from Melanoma to {Melanoma, cutaneous malignant, 2}, MIM# 155601
Genomic newborn screening: BabyScreen+ v1.8 CDKN2A Zornitza Stark Classified gene: CDKN2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.8 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.7 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2}, MIM# 155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Phenotypes for gene: BMPR2 were changed from Pulmonary hypertension, familial primary to Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600
Genomic newborn screening: BabyScreen+ v1.6 BMPR2 Zornitza Stark Classified gene: BMPR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.6 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.5 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.5 AIP Zornitza Stark Classified gene: AIP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.5 AIP Zornitza Stark Gene: aip has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.4 AIP Zornitza Stark edited their review of gene: AIP: Changed rating: RED
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Marked gene: PHOX2B as ready
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Gene: phox2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Phenotypes for gene: PHOX2B were changed from Central hypoventilation syndrome to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880
Genomic newborn screening: BabyScreen+ v1.3 PHOX2B Zornitza Stark Classified gene: PHOX2B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.3 PHOX2B Zornitza Stark Gene: phox2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.2 PHOX2B Zornitza Stark reviewed gene: PHOX2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Marked gene: AIP as ready
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Gene: aip has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Phenotypes for gene: AIP were changed from Pituitary adenoma to Pituitary adenoma predisposition, MIM# 102200
Genomic newborn screening: BabyScreen+ v1.1 AIP Zornitza Stark reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary adenoma predisposition, MIM# 102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Miscellaneous Metabolic Disorders v1.30 FTCD Bryony Thompson Publications for gene: FTCD were set to 27604308; 12815595
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: None; Publications: http://iembase.com/disorder/47; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: None
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson Deleted their review
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47).
Intellectual disability syndromic and non-syndromic v0.5397 FTCD Bryony Thompson Marked gene: FTCD as ready
Intellectual disability syndromic and non-syndromic v0.5397 FTCD Bryony Thompson Gene: ftcd has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5397 FTCD Bryony Thompson Phenotypes for gene: FTCD were changed from to Glutamate formiminotransferase deficiency MIM#229100
Intellectual disability syndromic and non-syndromic v0.5396 FTCD Bryony Thompson Publications for gene: FTCD were set to
Intellectual disability syndromic and non-syndromic v0.5395 FTCD Bryony Thompson Mode of inheritance for gene: FTCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1166 FTCD Bryony Thompson Publications for gene: FTCD were set to 27604308; 12815595
Mendeliome v1.1165 FTCD Bryony Thompson edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47
Mendeliome v1.1165 FTCD Bryony Thompson changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47).
Intellectual disability syndromic and non-syndromic v0.5394 FTCD Bryony Thompson Classified gene: FTCD as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5394 FTCD Bryony Thompson Added comment: Comment on list classification: According to IEMbase this gene is associated with a benign form of disorder of folate metabolism with no clinical significance
Intellectual disability syndromic and non-syndromic v0.5394 FTCD Bryony Thompson Gene: ftcd has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1165 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918 to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918; Deafness, autosomal dominant 83, MIM# 619808
Mendeliome v1.1164 MAP1B Zornitza Stark edited their review of gene: MAP1B: Added comment: At least 3 families reported with isolated deafness and mono-allelic variants.; Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918, Deafness, autosomal dominant 83, MIM# 619808
Deafness_IsolatedAndComplex v1.161 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss to Deafness, autosomal dominant 83, MIM# 619808
Deafness_IsolatedAndComplex v1.160 MAP1B Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 83, MIM# 619808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.264 WDR45 Kaitlyn Dianna Weldon reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: neurodegeneration with brain iron accumulation 5 MONDO:0010476, X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early-onset Parkinson disease v0.264 VPS13A Kaitlyn Dianna Weldon reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301561, 37636221; Phenotypes: chorea-acanthocytosis MONDO:0008695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.264 TUBB4A Kaitlyn Dianna Weldon reviewed gene: TUBB4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.264 TH Kaitlyn Dianna Weldon reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301334, 20301610; Phenotypes: TH-deficient dopa-responsive dystonia MONDO:0011551, tyrosine hydroxylase deficiency MONDO:0100064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.264 SPR Claire Fryer-Smith reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 22522443, 11920285, 14663042, 16443856, 21782285, 32813147; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (MIM# 612716); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1914 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIP5K1C were set to 37451268
Phenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Review for gene: PIP5K1C was set to GREEN
Added comment: Three de novo heterozygous missense variants in PIP5K1C (p.Glu146Lys, p.Tyr205Cys & p.Tyr221Cys) were identified in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. Intellectual disability was reported in all nine children and seizures were present in seven children, of which three had developmental and epileptic encephalopathy. In addition, there is functional evidence available, which includes an in vivo zebrafish model that recapitulates the human phenotype (developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities) (PMID:37451268).
Sources: Expert Review
Mendeliome v1.1164 GJA4 Zornitza Stark Marked gene: GJA4 as ready
Mendeliome v1.1164 GJA4 Zornitza Stark Gene: gja4 has been classified as Green List (High Evidence).
Mendeliome v1.1164 GJA4 Zornitza Stark Classified gene: GJA4 as Green List (high evidence)
Mendeliome v1.1164 GJA4 Zornitza Stark Gene: gja4 has been classified as Green List (High Evidence).
Mendeliome v1.1163 GJA4 Zornitza Stark gene: GJA4 was added
gene: GJA4 was added to Mendeliome. Sources: Expert Review
somatic tags were added to gene: GJA4.
Mode of inheritance for gene: GJA4 was set to Other
Publications for gene: GJA4 were set to 33912852
Phenotypes for gene: GJA4 were set to Cavernous hemangioma, MONDO:0003155, GJA4-related
Review for gene: GJA4 was set to GREEN
Added comment: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=3) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Expert Review
Ataxia v1.11 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Ataxia v1.11 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Ataxia v1.11 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Ataxia v1.11 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Ataxia v1.10 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six.
Sources: Expert Review
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Classified gene: MAB21L2 as Green List (high evidence)
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.252 MAB21L2 Zornitza Stark gene: MAB21L2 was added
gene: MAB21L2 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: MAB21L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAB21L2 were set to 24906020; 25719200; 31037784; 30375740; 30073347; 26116559
Phenotypes for gene: MAB21L2 were set to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Review for gene: MAB21L2 was set to GREEN
Added comment: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.
Sources: Expert Review
Early-onset Parkinson disease v0.264 SPG11 Claire Fryer-Smith reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 35036589, 23121729, 21381113, 27217339; Phenotypes: Amyotrophic lateral sclerosis 5, juvenile (MIM# 602099), Charcot-Marie-Tooth disease, axonal, type 2X (MIM# 616668), Spastic paraplegia 11, autosomal recessive (MIM# 604360); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.166 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350 to Cowden syndrome 1, MIM# 158350; PTEN hamartoma tumour syndrome (MONDO#0017623)
Additional findings_Adult v0.165 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Marked gene: CAP2 as ready
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5393 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Intellectual developmental disorder 34 (MIM#616351)
Intellectual disability syndromic and non-syndromic v0.5392 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to 25533962
Intellectual disability syndromic and non-syndromic v0.5391 COL4A3BP Zornitza Stark Mode of pathogenicity for gene: COL4A3BP was changed from to Other
Mendeliome v1.1162 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Intellectual developmental disorder 34 (MIM#616351)
Mendeliome v1.1161 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to 25533962
Mendeliome v1.1160 COL4A3BP Zornitza Stark Mode of pathogenicity for gene: COL4A3BP was changed from to Other
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Green List (high evidence)
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Classified gene: GABRB3 as Green List (high evidence)
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Mendeliome v1.1159 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Ichthyosis (MONDO#0019269), DBR1-related
Mendeliome v1.1158 DBR1 Zornitza Stark edited their review of gene: DBR1: Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed publications: 29474921, 37656279; Changed phenotypes: {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441, Viral infections of the brainstem, Ichthyosis (MONDO#0019269), DBR1-related
Fetal anomalies v1.143 DBR1 Zornitza Stark Tag founder tag was added to gene: DBR1.
Ichthyosis and Porokeratosis v1.6 DBR1 Zornitza Stark Tag founder tag was added to gene: DBR1.
Microcephaly v1.230 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Microcephaly v1.230 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Microcephaly v1.230 GABRB3 Zornitza Stark Classified gene: GABRB3 as Green List (high evidence)
Microcephaly v1.230 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Mendeliome v1.1158 APOO Zornitza Stark Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Mendeliome v1.1157 APOO Zornitza Stark Publications for gene: APOO were set to 32439808
Mendeliome v1.1156 APOO Zornitza Stark edited their review of gene: APOO: Added comment: PMID: 37649161
1 family, 2 individuals (male & female) with same NMD variant c.532G>T (p.E178*), maternally inherited (mother unaffected).

Both died before 18 months of age with partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies.
Other phenotypes included partial syndactyly of the 2nd and 3rd toes, wrinkled palm, and sole skin.

Functional studies included site directed mutagenesis. This mutation resulted in a highly unstable and degradation
prone MIC26 protein, yet the remaining minute amounts of mutant MIC26 correctly localized to mitochondria and
interacted physically with other MICOS subunits. MIC26 KO cells expressing MIC26 harboring the respective APOO/MIC26 mutation showed mitochondria with perturbed cristae architecture and fragmented morphology resembling MIC26 KO cells.; Changed publications: 37649161; Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour
Mitochondrial disease v0.891 APOO Zornitza Stark Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Mitochondrial disease v0.890 APOO Zornitza Stark Publications for gene: APOO were set to 32439808
Mitochondrial disease v0.889 APOO Zornitza Stark edited their review of gene: APOO: Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour
Ciliopathies v1.45 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Ciliopathies v1.45 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Ciliopathies v1.45 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Ciliopathies v1.45 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.264 SLC30A10 Claire Fryer-Smith reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22341971, 22341972; Phenotypes: Hypermanganesemia with dystonia 1 (MIM# 613280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Green List (high evidence)
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.178 COL4A3BP Zornitza Stark Tag new gene name tag was added to gene: COL4A3BP.
Early-onset Parkinson disease v0.264 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Early-onset Parkinson disease v0.264 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.264 SLC39A14 Zornitza Stark Phenotypes for gene: SLC39A14 were changed from to Hypermanganesemia with dystonia 2 (MIM# 617013)
Early-onset Parkinson disease v0.263 SLC39A14 Zornitza Stark Publications for gene: SLC39A14 were set to
Early-onset Parkinson disease v0.262 SLC39A14 Zornitza Stark Mode of inheritance for gene: SLC39A14 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.261 SLC39A14 Zornitza Stark Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.260 SLC39A14 Claire Fryer-Smith reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231142, 32626807, 29685658, 30232769; Phenotypes: Hypermanganesemia with dystonia 2 (MIM# 617013); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.178 COL4A3BP Ee Ming Wong gene: COL4A3BP was added
gene: COL4A3BP was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A3BP were set to PMID: 36976648
Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)
Mode of pathogenicity for gene: COL4A3BP was set to Other
Review for gene: COL4A3BP was set to GREEN
gene: COL4A3BP was marked as current diagnostic
Added comment: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Sources: Literature
Skeletal Ciliopathies v1.9 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Mitochondrial disease v0.889 APOO Karina Sandoval reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37649161; Phenotypes: agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, severe immune deficiencies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.205 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Cataract v0.356 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Cataract v0.356 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Cataract v0.356 COL4A2 Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence)
Cataract v0.356 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1156 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Microcephaly v1.229 GABRB3 Michelle Torres gene: GABRB3 was added
gene: GABRB3 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Review for gene: GABRB3 was set to GREEN
Added comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.

Gain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.

LoF variants have not been associated with microcephaly and movement disorders either.
Sources: Literature
Macrocephaly_Megalencephaly v0.132 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Genetic Epilepsy v0.1912 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Ciliopathies v1.44 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.7 DHX16 Seb Lunke Publications for gene: DHX16 were set to 36211162
Ichthyosis and Porokeratosis v1.6 DBR1 Seb Lunke Marked gene: DBR1 as ready
Ichthyosis and Porokeratosis v1.6 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.143 DBR1 Seb Lunke Marked gene: DBR1 as ready
Fetal anomalies v1.143 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1156 DBR1 Chern Lim reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279; Phenotypes: Ichthyosis (MONDO#0019269), DBR1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ichthyosis and Porokeratosis v1.6 DBR1 Seb Lunke Phenotypes for gene: DBR1 were changed from Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life to Ichthyosis (MONDO#0019269), DBR1-related
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Marked gene: RAB5C as ready
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.111 GABRB3 Michelle Torres gene: GABRB3 was added
gene: GABRB3 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Review for gene: GABRB3 was set to GREEN
Added comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.

Gain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.

LoF variants have not been associated with microcephaly and movement disorders either.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.6 DHX16 Seb Lunke Classified gene: DHX16 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.6 DHX16 Seb Lunke Gene: dhx16 has been classified as Green List (High Evidence).
Fetal anomalies v1.143 DBR1 Seb Lunke Phenotypes for gene: DBR1 were changed from Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life to Ichthyosis (MONDO#0019269), DBR1-related
Fetal anomalies v1.142 DBR1 Chern Lim Deleted their comment
Genetic Epilepsy v0.1911 COL4A3BP Ee Ming Wong gene: COL4A3BP was added
gene: COL4A3BP was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A3BP were set to PMID: 36976648
Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)
Mode of pathogenicity for gene: COL4A3BP was set to Other
Review for gene: COL4A3BP was set to GREEN
gene: COL4A3BP was marked as current diagnostic
Added comment: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Sources: Literature
Fetal anomalies v1.142 DBR1 Chern Lim edited their review of gene: DBR1: Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related
Mendeliome v1.1156 CAP2 Zornitza Stark Phenotypes for gene: CAP2 were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 2I (MIM#620462)
Ichthyosis and Porokeratosis v1.5 DBR1 Chern Lim Deleted their comment
Mendeliome v1.1155 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT; to: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Ichthyosis and Porokeratosis v1.5 DBR1 Chern Lim edited their review of gene: DBR1: Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT; to: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Mendeliome v1.1155 CAP2 Zornitza Stark Publications for gene: CAP2 were set to 30518548
Genetic Epilepsy v0.1911 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Cardiomyopathy_Paediatric v0.168 CAP2 Daniel Flanagan gene: CAP2 was added
gene: CAP2 was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Expert list
Mendeliome v1.1154 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Mendeliome v1.1154 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Marked gene: RAB5C as ready
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 CAP2 Zornitza Stark reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30518548, 33083013, 34862840; Phenotypes: Cardiomyopathy, dilated, 2I (MIM#620462); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.131 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Macrocephaly_Megalencephaly v0.131 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Marked gene: CAP2 as ready
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Mendeliome v1.1153 COL4A3BP Ee Ming Wong reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36976648; Phenotypes: Intellectual developmental disorder 34 (MIM#616351); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Macrocephaly_Megalencephaly v0.130 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,
which was corrected by pharmacological inhibition of CERT; to: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,
which was corrected by pharmacological inhibition of CERT; to: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,
which was corrected by pharmacological inhibition of CERT
Dilated Cardiomyopathy v1.22 CAP2 Daniel Flanagan gene: CAP2 was added
gene: CAP2 was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36976648; Phenotypes: Intellectual developmental disorder 34 (MIM#616351); Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v1.142 LNPK Zornitza Stark Marked gene: LNPK as ready
Fetal anomalies v1.142 LNPK Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.5 DHX16 Belinda Chong reviewed gene: DHX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 37664979, 37574199; Phenotypes: Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733, MONDO:0032890); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.142 LNPK Zornitza Stark Classified gene: LNPK as Green List (high evidence)
Fetal anomalies v1.142 LNPK Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.5 DBR1 Seb Lunke Classified gene: DBR1 as Amber List (moderate evidence)
Ichthyosis and Porokeratosis v1.5 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild to severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Marked gene: RAB5C as ready
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 RAB5C Ain Roesley Marked gene: RAB5C as ready
Mendeliome v1.1153 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Mendeliome v1.1153 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Mendeliome v1.1153 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.130 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.130 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Mendeliome v1.1152 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Mendeliome v1.1152 AXIN1 Elena Savva Phenotypes for gene: AXIN1 were changed from Caudal duplication anomaly, MIM# 607864 to Caudal duplication anomaly, MIM# 607864; Syndromic disease, (MONDO:0002254), AXIN1-related
Mendeliome v1.1152 AXIN1 Elena Savva Publications for gene: AXIN1 were set to 9335612
Fetal anomalies v1.141 DBR1 Seb Lunke Classified gene: DBR1 as Amber List (moderate evidence)