| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 500+ v0.0 | ZNF711 |
Seb Lunke gene: ZNF711 was added gene: ZNF711 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3) |
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| Prepair 500+ v0.0 | ZDHHC9 |
Seb Lunke gene: ZDHHC9 was added gene: ZDHHC9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3) |
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| Prepair 500+ v0.0 | XIAP |
Seb Lunke gene: XIAP was added gene: XIAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3) |
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| Prepair 500+ v0.0 | WAS |
Seb Lunke gene: WAS was added gene: WAS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3) |
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| Prepair 500+ v0.0 | USP9X |
Seb Lunke gene: USP9X was added gene: USP9X was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3) |
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| Prepair 500+ v0.0 | UPF3B |
Seb Lunke gene: UPF3B was added gene: UPF3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3) |
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| Prepair 500+ v0.0 | THOC2 |
Seb Lunke gene: THOC2 was added gene: THOC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive |
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| Prepair 500+ v0.0 | TAZ |
Seb Lunke gene: TAZ was added gene: TAZ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3) |
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| Prepair 500+ v0.0 | SYN1 |
Seb Lunke gene: SYN1 was added gene: SYN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) |
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| Prepair 500+ v0.0 | SLC6A8 |
Seb Lunke gene: SLC6A8 was added gene: SLC6A8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3) |
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| Prepair 500+ v0.0 | SLC16A2 |
Seb Lunke gene: SLC16A2 was added gene: SLC16A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome |
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| Prepair 500+ v0.0 | RPS6KA3 |
Seb Lunke gene: RPS6KA3 was added gene: RPS6KA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome |
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| Prepair 500+ v0.0 | RP2 |
Seb Lunke gene: RP2 was added gene: RP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3) |
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| Prepair 500+ v0.0 | PRPS1 |
Seb Lunke gene: PRPS1 was added gene: PRPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3) |
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| Prepair 500+ v0.0 | PQBP1 |
Seb Lunke gene: PQBP1 was added gene: PQBP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3) |
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| Prepair 500+ v0.0 | PLP1 |
Seb Lunke gene: PLP1 was added gene: PLP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3) |
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| Prepair 500+ v0.0 | PHF8 |
Seb Lunke gene: PHF8 was added gene: PHF8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3) |
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| Prepair 500+ v0.0 | PGK1 |
Seb Lunke gene: PGK1 was added gene: PGK1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 28580215; 16567715; 22348148; 30887539 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3) |
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| Prepair 500+ v0.0 | PDHA1 |
Seb Lunke gene: PDHA1 was added gene: PDHA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PDHA1 were set to 28584645; 22142326 Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) |
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| Prepair 500+ v0.0 | PCDH19 |
Seb Lunke gene: PCDH19 was added gene: PCDH19 was added to Prepair 500+. Sources: Literature,Expert Review Green Mode of inheritance for gene: PCDH19 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: PCDH19 were set to 18469813; 30287595 Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088) |
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| Prepair 500+ v0.0 | PAK3 |
Seb Lunke gene: PAK3 was added gene: PAK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3) |
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| Prepair 500+ v0.0 | OTC |
Seb Lunke gene: OTC was added gene: OTC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3) |
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| Prepair 500+ v0.0 | OPHN1 |
Seb Lunke gene: OPHN1 was added gene: OPHN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) |
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| Prepair 500+ v0.0 | OFD1 |
Seb Lunke gene: OFD1 was added gene: OFD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3) |
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| Prepair 500+ v0.0 | OCRL |
Seb Lunke gene: OCRL was added gene: OCRL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3) |
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| Prepair 500+ v0.0 | NR0B1 |
Seb Lunke gene: NR0B1 was added gene: NR0B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3) |
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| Prepair 500+ v0.0 | NDP |
Seb Lunke gene: NDP was added gene: NDP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDP were set to Norrie disease, 310600 (3) |
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| Prepair 500+ v0.0 | MUT |
Seb Lunke gene: MUT was added gene: MUT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3) |
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| Prepair 500+ v0.0 | MTM1 |
Seb Lunke gene: MTM1 was added gene: MTM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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 |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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 |
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| 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) |
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| 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) |
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| 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 |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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 |
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| 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) |
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| 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) |
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| 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 |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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