Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Severe Paediatric Disorders v1.182 C12orf4 Arina Puzriakova Tag new-gene-name tag was added to gene: C12orf4.
Severe Paediatric Disorders v1.181 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.180 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Severe Paediatric Disorders v1.179 CNBP_CCTG Sarah Leigh STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to Severe Paediatric Disorders. Sources: Expert list,NHS GMS,Expert Review Red
STR, NGS Not Validated tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Severe Paediatric Disorders v1.176 FAM111A Sarah Leigh Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v1.174 SLC12A3 Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3.
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Severe Paediatric Disorders v1.174 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Severe Paediatric Disorders v1.174 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND5.
Severe Paediatric Disorders v1.174 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4L.
Severe Paediatric Disorders v1.174 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
Severe Paediatric Disorders v1.174 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND3.
Severe Paediatric Disorders v1.174 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND2.
Severe Paediatric Disorders v1.174 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Severe Paediatric Disorders v1.174 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Severe Paediatric Disorders v1.174 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Severe Paediatric Disorders v1.174 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Severe Paediatric Disorders v1.174 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Severe Paediatric Disorders v1.174 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Severe Paediatric Disorders v1.174 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Tag refuted tag was added to gene: SLC6A20.
Severe Paediatric Disorders v1.173 CCDC47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC47.
Severe Paediatric Disorders v1.173 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Severe Paediatric Disorders v1.173 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Severe Paediatric Disorders v1.173 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Severe Paediatric Disorders v1.173 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Severe Paediatric Disorders v1.173 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Severe Paediatric Disorders v1.173 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Severe Paediatric Disorders v1.173 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Severe Paediatric Disorders v1.173 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Severe Paediatric Disorders v1.173 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Severe Paediatric Disorders v1.173 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Severe Paediatric Disorders v1.173 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Severe Paediatric Disorders v1.173 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Severe Paediatric Disorders v1.173 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Severe Paediatric Disorders v1.173 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Severe Paediatric Disorders v1.171 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Severe Paediatric Disorders v1.170 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Severe Paediatric Disorders v1.170 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Severe Paediatric Disorders v1.168 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.164 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.162 UCHL1 Sarah Leigh Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.159 DCC Ataf Sabir changed review comment from: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract; to: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract

in relation to the condition HGPPS2 (See OMIM)
there was only 1 report before, but evidence building now
Severe Paediatric Disorders v1.152 SPG7 Sarah Leigh Mode of inheritance for gene: SPG7 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
Severe Paediatric Disorders v1.145 SELENON Achchuthan Shanmugasundram Mode of inheritance for gene: SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.144 EMC1 Achchuthan Shanmugasundram Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.143 EMC1 Achchuthan Shanmugasundram Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.143 EMC1 Achchuthan Shanmugasundram Mode of inheritance for gene: EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.141 STXBP1 Sarah Leigh edited their review of gene: STXBP1: Added comment: PMID: 31855252 reports a homozygous STXBP1 variant (NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)) in two sisters with developmental and epileptic encephalopathy 4 (OMIM:612164). Their mother and unaffected sister were heterozygous for NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)(the father was deceased). Functional studies showed that this variant had a lesser effect on protein stability in comparison with the heterozygous variants previously reported. However, patch clamp recordings demonstrated that p.Leu446Phe causes a 2-fold increase in evoked synaptic transmission, leading to the conclusion that this variant was having a gain-of-function effect. Although the majority of STXBP1 variants are heterozygous, with a loss-of -function effect, the results published in PMID: 31855252, suggest that there maybe further complexity to mechanisms involved in the development of developmental and epileptic encephalopathy 4. PMID: 35190816 used a computational approach, together with biomedical ontologies, to characterize phenotypic features in STXBP1-related disorders, such that groups of HPO terms could be associated with certain STXBP1 variants.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.141 STXBP1 Sarah Leigh Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.140 STXBP1 Sarah Leigh Mode of inheritance for gene: STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.131 ZNF292 Sarah Leigh Mode of inheritance for gene: ZNF292 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v1.129 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
Severe Paediatric Disorders v1.129 SLC12A6 Eleanor Williams Tag for-review was removed from gene: SLC12A6.
Severe Paediatric Disorders v1.127 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Severe Paediatric Disorders v1.127 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Severe Paediatric Disorders v1.127 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Severe Paediatric Disorders v1.127 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Severe Paediatric Disorders v1.125 ACO2 Sarah Leigh Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.121 PAPPA2 Arina Puzriakova Mode of inheritance for gene: PAPPA2 was changed from MITOCHONDRIAL to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.117 ALB Arina Puzriakova Mode of inheritance for gene: ALB was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.88 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Severe Paediatric Disorders v1.86 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Severe Paediatric Disorders v1.84 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Severe Paediatric Disorders v1.84 CSF2RA Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
Severe Paediatric Disorders v1.83 JAG1 Arina Puzriakova Mode of inheritance for gene: JAG1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe Paediatric Disorders v1.62 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Severe Paediatric Disorders v1.62 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Severe Paediatric Disorders v1.62 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Severe Paediatric Disorders v1.62 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Severe Paediatric Disorders v1.62 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Severe Paediatric Disorders v1.62 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Severe Paediatric Disorders v1.60 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Severe Paediatric Disorders v1.48 TOR1A Arina Puzriakova Mode of inheritance for gene: TOR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.31 KCNJ2 Arina Puzriakova Mode of inheritance for gene: KCNJ2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v1.20 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Severe Paediatric Disorders v1.13 MAPRE2 Arina Puzriakova Mode of inheritance for gene: MAPRE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.6 SLC12A6 Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
Severe Paediatric Disorders v1.6 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
Severe Paediatric Disorders v1.6 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Severe Paediatric Disorders v1.1 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
Severe Paediatric Disorders v1.1 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
Severe Paediatric Disorders v1.1 C15orf41 Catherine Snow Tag new-gene-name tag was added to gene: C15orf41.
Severe Paediatric Disorders v0.18 RS1 Louise Daugherty Mode of inheritance for gene: RS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MICU1 Louise Daugherty Mode of inheritance for gene MICU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C19orf70 Louise Daugherty Mode of inheritance for gene C19orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MGP Louise Daugherty Mode of inheritance for gene MGP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MGME1 Louise Daugherty Mode of inheritance for gene MGME1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MGAT2 Louise Daugherty Mode of inheritance for gene MGAT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MFSD8 Louise Daugherty Mode of inheritance for gene MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MFSD2A Louise Daugherty Mode of inheritance for gene MFSD2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MFRP Louise Daugherty Mode of inheritance for gene MFRP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MFN2 Louise Daugherty Mode of inheritance for gene MFN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MFF Louise Daugherty Mode of inheritance for gene MFF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 METTL23 Louise Daugherty Mode of inheritance for gene METTL23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MESP2 Louise Daugherty Mode of inheritance for gene MESP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MEOX1 Louise Daugherty Mode of inheritance for gene MEOX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MEIS2 Louise Daugherty Mode of inheritance for gene MEIS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MEGF8 Louise Daugherty Mode of inheritance for gene MEGF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MEGF10 Louise Daugherty Mode of inheritance for gene MEGF10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MEFV Louise Daugherty Mode of inheritance for gene MEFV was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MEF2C Louise Daugherty Mode of inheritance for gene MEF2C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MED23 Louise Daugherty Mode of inheritance for gene MED23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MED17 Louise Daugherty Mode of inheritance for gene MED17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MED13L Louise Daugherty Mode of inheritance for gene MED13L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MED12 Louise Daugherty Mode of inheritance for gene MED12 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MECR Louise Daugherty Mode of inheritance for gene MECR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MECP2 Louise Daugherty Mode of inheritance for gene MECP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 MECOM Louise Daugherty Mode of inheritance for gene MECOM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MDH2 Louise Daugherty Mode of inheritance for gene MDH2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCPH1 Louise Daugherty Mode of inheritance for gene MCPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCOLN1 Louise Daugherty Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCM4 Louise Daugherty Mode of inheritance for gene MCM4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCM3AP Louise Daugherty Mode of inheritance for gene MCM3AP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCFD2 Louise Daugherty Mode of inheritance for gene MCFD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCEE Louise Daugherty Mode of inheritance for gene MCEE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCCC2 Louise Daugherty Mode of inheritance for gene MCCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MCCC1 Louise Daugherty Mode of inheritance for gene MCCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MC2R Louise Daugherty Mode of inheritance for gene MC2R was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MBTPS2 Louise Daugherty Mode of inheritance for gene MBTPS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MBOAT7 Louise Daugherty Mode of inheritance for gene MBOAT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MBD5 Louise Daugherty Mode of inheritance for gene MBD5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MATR3 Louise Daugherty Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MATN3 Louise Daugherty Mode of inheritance for gene MATN3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAT1A Louise Daugherty Mode of inheritance for gene MAT1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAST1 Louise Daugherty Mode of inheritance for gene MAST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MASP2 Louise Daugherty Mode of inheritance for gene MASP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MASP1 Louise Daugherty Mode of inheritance for gene MASP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MARVELD2 Louise Daugherty Mode of inheritance for gene MARVELD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MARS2 Louise Daugherty Mode of inheritance for gene MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAPT Louise Daugherty Mode of inheritance for gene MAPT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAPRE2 Louise Daugherty Mode of inheritance for gene MAPRE2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAPKBP1 Louise Daugherty Mode of inheritance for gene MAPKBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAPK8IP3 Louise Daugherty Mode of inheritance for gene MAPK8IP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAP3K7 Louise Daugherty Mode of inheritance for gene MAP3K7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAP3K20 Louise Daugherty Mode of inheritance for gene MAP3K20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAP3K1 Louise Daugherty Mode of inheritance for gene MAP3K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAP2K2 Louise Daugherty Mode of inheritance for gene MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAP2K1 Louise Daugherty Mode of inheritance for gene MAP2K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAOA Louise Daugherty Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MANBA Louise Daugherty Mode of inheritance for gene MANBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAN2B1 Louise Daugherty Mode of inheritance for gene MAN2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAN1B1 Louise Daugherty Mode of inheritance for gene MAN1B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MALT1 Louise Daugherty Mode of inheritance for gene MALT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAGT1 Louise Daugherty Mode of inheritance for gene MAGT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 MAGI2 Louise Daugherty Mode of inheritance for gene MAGI2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAGEL2 Louise Daugherty Mode of inheritance for gene MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAFB Louise Daugherty Mode of inheritance for gene MAFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAF Louise Daugherty Mode of inheritance for gene MAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MACF1 Louise Daugherty Mode of inheritance for gene MACF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 MAB21L2 Louise Daugherty Mode of inheritance for gene MAB21L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MAB21L1 Louise Daugherty Mode of inheritance for gene MAB21L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LZTR1 Louise Daugherty Mode of inheritance for gene LZTR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LZTFL1 Louise Daugherty Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LYST Louise Daugherty Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LYRM7 Louise Daugherty Mode of inheritance for gene LYRM7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LTBP4 Louise Daugherty Mode of inheritance for gene LTBP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LTBP3 Louise Daugherty Mode of inheritance for gene LTBP3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LTBP2 Louise Daugherty Mode of inheritance for gene LTBP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRTOMT Louise Daugherty Mode of inheritance for gene LRTOMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRSAM1 Louise Daugherty Mode of inheritance for gene LRSAM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRRK2 Louise Daugherty Mode of inheritance for gene LRRK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LRRC6 Louise Daugherty Mode of inheritance for gene LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRPPRC Louise Daugherty Mode of inheritance for gene LRPPRC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRP5 Louise Daugherty Mode of inheritance for gene LRP5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRP4 Louise Daugherty Mode of inheritance for gene LRP4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRP2 Louise Daugherty Mode of inheritance for gene LRP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRIG2 Louise Daugherty Mode of inheritance for gene LRIG2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LRBA Louise Daugherty Mode of inheritance for gene LRBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LPL Louise Daugherty Mode of inheritance for gene LPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LPIN2 Louise Daugherty Mode of inheritance for gene LPIN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LPIN1 Louise Daugherty Mode of inheritance for gene LPIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LOXHD1 Louise Daugherty Mode of inheritance for gene LOXHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LONP1 Louise Daugherty Mode of inheritance for gene LONP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LNPK Louise Daugherty Mode of inheritance for gene LNPK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LMX1B Louise Daugherty Mode of inheritance for gene LMX1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LMOD3 Louise Daugherty Mode of inheritance for gene LMOD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LMNB1 Louise Daugherty Mode of inheritance for gene LMNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LMNA Louise Daugherty Mode of inheritance for gene LMNA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LMBRD1 Louise Daugherty Mode of inheritance for gene LMBRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LMBR1 Louise Daugherty Mode of inheritance for gene LMBR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LMAN1 Louise Daugherty Mode of inheritance for gene LMAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LITAF Louise Daugherty Mode of inheritance for gene LITAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LIPT2 Louise Daugherty Mode of inheritance for gene LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LIPT1 Louise Daugherty Mode of inheritance for gene LIPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LIPA Louise Daugherty Mode of inheritance for gene LIPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LINS1 Louise Daugherty Mode of inheritance for gene LINS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LIG4 Louise Daugherty Mode of inheritance for gene LIG4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LIFR Louise Daugherty Mode of inheritance for gene LIFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LIAS Louise Daugherty Mode of inheritance for gene LIAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LHX4 Louise Daugherty Mode of inheritance for gene LHX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LHX3 Louise Daugherty Mode of inheritance for gene LHX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LHFPL5 Louise Daugherty Mode of inheritance for gene LHFPL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LGI4 Louise Daugherty Mode of inheritance for gene LGI4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LGI1 Louise Daugherty Mode of inheritance for gene LGI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LFNG Louise Daugherty Mode of inheritance for gene LFNG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LEPR Louise Daugherty Mode of inheritance for gene LEPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LEMD3 Louise Daugherty Mode of inheritance for gene LEMD3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LDLRAP1 Louise Daugherty Mode of inheritance for gene LDLRAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LDLR Louise Daugherty Mode of inheritance for gene LDLR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LDHA Louise Daugherty Mode of inheritance for gene LDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LDB3 Louise Daugherty Mode of inheritance for gene LDB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 LCT Louise Daugherty Mode of inheritance for gene LCT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LCAT Louise Daugherty Mode of inheritance for gene LCAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LBR Louise Daugherty Mode of inheritance for gene LBR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAT Louise Daugherty Mode of inheritance for gene LAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LARS2 Louise Daugherty Mode of inheritance for gene LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LARP7 Louise Daugherty Mode of inheritance for gene LARP7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LARGE1 Louise Daugherty Mode of inheritance for gene LARGE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMTOR2 Louise Daugherty Mode of inheritance for gene LAMTOR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMP2 Louise Daugherty Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 LAMC3 Louise Daugherty Mode of inheritance for gene LAMC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMC2 Louise Daugherty Mode of inheritance for gene LAMC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMB3 Louise Daugherty Mode of inheritance for gene LAMB3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMB2 Louise Daugherty Mode of inheritance for gene LAMB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMB1 Louise Daugherty Mode of inheritance for gene LAMB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMA3 Louise Daugherty Mode of inheritance for gene LAMA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMA2 Louise Daugherty Mode of inheritance for gene LAMA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMA1 Louise Daugherty Mode of inheritance for gene LAMA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAGE3 Louise Daugherty Mode of inheritance for gene LAGE3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 L2HGDH Louise Daugherty Mode of inheritance for gene L2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 L1CAM Louise Daugherty Mode of inheritance for gene L1CAM was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 KYNU Louise Daugherty Mode of inheritance for gene KYNU was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KRT6A Louise Daugherty Mode of inheritance for gene KRT6A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KRT5 Louise Daugherty Mode of inheritance for gene KRT5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KRT17 Louise Daugherty Mode of inheritance for gene KRT17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KRT16 Louise Daugherty Mode of inheritance for gene KRT16 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KRT14 Louise Daugherty Mode of inheritance for gene KRT14 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KRIT1 Louise Daugherty Mode of inheritance for gene KRIT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KRAS Louise Daugherty Mode of inheritance for gene KRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KPTN Louise Daugherty Mode of inheritance for gene KPTN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KNL1 Louise Daugherty Mode of inheritance for gene KNL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KNG1 Louise Daugherty Mode of inheritance for gene KNG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KMT5B Louise Daugherty Mode of inheritance for gene KMT5B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KMT2E Louise Daugherty Mode of inheritance for gene KMT2E was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KMT2D Louise Daugherty Mode of inheritance for gene KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KMT2C Louise Daugherty Mode of inheritance for gene KMT2C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KMT2B Louise Daugherty Mode of inheritance for gene KMT2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KMT2A Louise Daugherty Mode of inheritance for gene KMT2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KLKB1 Louise Daugherty Mode of inheritance for gene KLKB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KLHL7 Louise Daugherty Mode of inheritance for gene KLHL7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KLHL41 Louise Daugherty Mode of inheritance for gene KLHL41 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KLHL40 Louise Daugherty Mode of inheritance for gene KLHL40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KLF1 Louise Daugherty Mode of inheritance for gene KLF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIT Louise Daugherty Mode of inheritance for gene KIT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF1BP Louise Daugherty Mode of inheritance for gene KIF1BP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF7 Louise Daugherty Mode of inheritance for gene KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF5C Louise Daugherty Mode of inheritance for gene KIF5C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF5A Louise Daugherty Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF2A Louise Daugherty Mode of inheritance for gene KIF2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF23 Louise Daugherty Mode of inheritance for gene KIF23 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF22 Louise Daugherty Mode of inheritance for gene KIF22 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF21A Louise Daugherty Mode of inheritance for gene KIF21A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF1C Louise Daugherty Mode of inheritance for gene KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF1A Louise Daugherty Mode of inheritance for gene KIF1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF14 Louise Daugherty Mode of inheritance for gene KIF14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF11 Louise Daugherty Mode of inheritance for gene KIF11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIDINS220 Louise Daugherty Mode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIAA1109 Louise Daugherty Mode of inheritance for gene KIAA1109 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIAA0586 Louise Daugherty Mode of inheritance for gene KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KDSR Louise Daugherty Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KDM6A Louise Daugherty Mode of inheritance for gene KDM6A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 KDM5C Louise Daugherty Mode of inheritance for gene KDM5C was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 KDM5B Louise Daugherty Mode of inheritance for gene KDM5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KDM1A Louise Daugherty Mode of inheritance for gene KDM1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCTD7 Louise Daugherty Mode of inheritance for gene KCTD7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCTD3 Louise Daugherty Mode of inheritance for gene KCTD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCTD1 Louise Daugherty Mode of inheritance for gene KCTD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNT1 Louise Daugherty Mode of inheritance for gene KCNT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNQ5 Louise Daugherty Mode of inheritance for gene KCNQ5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNQ4 Louise Daugherty Mode of inheritance for gene KCNQ4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNQ3 Louise Daugherty Mode of inheritance for gene KCNQ3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNQ2 Louise Daugherty Mode of inheritance for gene KCNQ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNQ1 Louise Daugherty Mode of inheritance for gene KCNQ1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCNMA1 Louise Daugherty Mode of inheritance for gene KCNMA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCNK9 Louise Daugherty Mode of inheritance for gene KCNK9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNK4 Louise Daugherty Mode of inheritance for gene KCNK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNJ6 Louise Daugherty Mode of inheritance for gene KCNJ6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNJ2 Louise Daugherty Mode of inheritance for gene KCNJ2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCNJ11 Louise Daugherty Mode of inheritance for gene KCNJ11 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCNJ10 Louise Daugherty Mode of inheritance for gene KCNJ10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCNJ1 Louise Daugherty Mode of inheritance for gene KCNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCNH1 Louise Daugherty Mode of inheritance for gene KCNH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNE1 Louise Daugherty Mode of inheritance for gene KCNE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KCND3 Louise Daugherty Mode of inheritance for gene KCND3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNC3 Louise Daugherty Mode of inheritance for gene KCNC3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNC1 Louise Daugherty Mode of inheritance for gene KCNC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNB1 Louise Daugherty Mode of inheritance for gene KCNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNA2 Louise Daugherty Mode of inheritance for gene KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KCNA1 Louise Daugherty Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KBTBD13 Louise Daugherty Mode of inheritance for gene KBTBD13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KATNB1 Louise Daugherty Mode of inheritance for gene KATNB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KAT6B Louise Daugherty Mode of inheritance for gene KAT6B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KAT6A Louise Daugherty Mode of inheritance for gene KAT6A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KARS Louise Daugherty Mode of inheritance for gene KARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KANSL1 Louise Daugherty Mode of inheritance for gene KANSL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 JUP Louise Daugherty Mode of inheritance for gene JUP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 JPH3 Louise Daugherty Mode of inheritance for gene JPH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 JPH2 Louise Daugherty Mode of inheritance for gene JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 JAM3 Louise Daugherty Mode of inheritance for gene JAM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 JAK3 Louise Daugherty Mode of inheritance for gene JAK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 JAGN1 Louise Daugherty Mode of inheritance for gene JAGN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 JAG1 Louise Daugherty Mode of inheritance for gene JAG1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IVD Louise Daugherty Mode of inheritance for gene IVD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITSN2 Louise Daugherty Mode of inheritance for gene ITSN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITPR1 Louise Daugherty Mode of inheritance for gene ITPR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITPA Louise Daugherty Mode of inheritance for gene ITPA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITK Louise Daugherty Mode of inheritance for gene ITK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGB4 Louise Daugherty Mode of inheritance for gene ITGB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGB3 Louise Daugherty Mode of inheritance for gene ITGB3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGB2 Louise Daugherty Mode of inheritance for gene ITGB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA8 Louise Daugherty Mode of inheritance for gene ITGA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA7 Louise Daugherty Mode of inheritance for gene ITGA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA6 Louise Daugherty Mode of inheritance for gene ITGA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA3 Louise Daugherty Mode of inheritance for gene ITGA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA2B Louise Daugherty Mode of inheritance for gene ITGA2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITCH Louise Daugherty Mode of inheritance for gene ITCH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ISG15 Louise Daugherty Mode of inheritance for gene ISG15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ISCU Louise Daugherty Mode of inheritance for gene ISCU was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ISCA2 Louise Daugherty Mode of inheritance for gene ISCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ISCA1 Louise Daugherty Mode of inheritance for gene ISCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IRX5 Louise Daugherty Mode of inheritance for gene IRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IRF8 Louise Daugherty Mode of inheritance for gene IRF8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IRF6 Louise Daugherty Mode of inheritance for gene IRF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 IRF2BPL Louise Daugherty Mode of inheritance for gene IRF2BPL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 IRAK4 Louise Daugherty Mode of inheritance for gene IRAK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IQSEC2 Louise Daugherty Mode of inheritance for gene IQSEC2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 IQCB1 Louise Daugherty Mode of inheritance for gene IQCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INVS Louise Daugherty Mode of inheritance for gene INVS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INTU Louise Daugherty Mode of inheritance for gene INTU was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INTS1 Louise Daugherty Mode of inheritance for gene INTS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INSR Louise Daugherty Mode of inheritance for gene INSR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INPPL1 Louise Daugherty Mode of inheritance for gene INPPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INPP5K Louise Daugherty Mode of inheritance for gene INPP5K was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INPP5E Louise Daugherty Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INO80 Louise Daugherty Mode of inheritance for gene INO80 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 INF2 Louise Daugherty Mode of inheritance for gene INF2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IMPAD1 Louise Daugherty Mode of inheritance for gene IMPAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ILDR1 Louise Daugherty Mode of inheritance for gene ILDR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL7R Louise Daugherty Mode of inheritance for gene IL7R was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL36RN Louise Daugherty Mode of inheritance for gene IL36RN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL2RG Louise Daugherty Mode of inheritance for gene IL2RG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IL2RA Louise Daugherty Mode of inheritance for gene IL2RA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL21R Louise Daugherty Mode of inheritance for gene IL21R was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL1RN Louise Daugherty Mode of inheritance for gene IL1RN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL1RAPL1 Louise Daugherty Mode of inheritance for gene IL1RAPL1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IL17RC Louise Daugherty Mode of inheritance for gene IL17RC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL17RA Louise Daugherty Mode of inheritance for gene IL17RA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL12RB1 Louise Daugherty Mode of inheritance for gene IL12RB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL12B Louise Daugherty Mode of inheritance for gene IL12B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL11RA Louise Daugherty Mode of inheritance for gene IL11RA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL10RB Louise Daugherty Mode of inheritance for gene IL10RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IL10RA Louise Daugherty Mode of inheritance for gene IL10RA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IKZF1 Louise Daugherty Mode of inheritance for gene IKZF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 IKBKG Louise Daugherty Mode of inheritance for gene IKBKG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IKBKB Louise Daugherty Mode of inheritance for gene IKBKB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IHH Louise Daugherty Mode of inheritance for gene IHH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGSF1 Louise Daugherty Mode of inheritance for gene IGSF1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IGLL1 Louise Daugherty Mode of inheritance for gene IGLL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGKC Louise Daugherty Mode of inheritance for gene IGKC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGHMBP2 Louise Daugherty Mode of inheritance for gene IGHMBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGHM Louise Daugherty Mode of inheritance for gene IGHM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGFALS Louise Daugherty Mode of inheritance for gene IGFALS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGF2 Louise Daugherty Mode of inheritance for gene IGF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 IGF1R Louise Daugherty Mode of inheritance for gene IGF1R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGF1 Louise Daugherty Mode of inheritance for gene IGF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFT81 Louise Daugherty Mode of inheritance for gene IFT81 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFT80 Louise Daugherty Mode of inheritance for gene IFT80 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFT52 Louise Daugherty Mode of inheritance for gene IFT52 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFT43 Louise Daugherty Mode of inheritance for gene IFT43 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFT172 Louise Daugherty Mode of inheritance for gene IFT172 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFT140 Louise Daugherty Mode of inheritance for gene IFT140 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFT122 Louise Daugherty Mode of inheritance for gene IFT122 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFNGR2 Louise Daugherty Mode of inheritance for gene IFNGR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFNGR1 Louise Daugherty Mode of inheritance for gene IFNGR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IFITM5 Louise Daugherty Mode of inheritance for gene IFITM5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 IFIH1 Louise Daugherty Mode of inheritance for gene IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 IER3IP1 Louise Daugherty Mode of inheritance for gene IER3IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IDUA Louise Daugherty Mode of inheritance for gene IDUA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IDS Louise Daugherty Mode of inheritance for gene IDS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 IDH2 Louise Daugherty Mode of inheritance for gene IDH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ICOS Louise Daugherty Mode of inheritance for gene ICOS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IBA57 Louise Daugherty Mode of inheritance for gene IBA57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IARS2 Louise Daugherty Mode of inheritance for gene IARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IARS Louise Daugherty Mode of inheritance for gene IARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HYLS1 Louise Daugherty Mode of inheritance for gene HYLS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HYDIN Louise Daugherty Mode of inheritance for gene HYDIN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HUWE1 Louise Daugherty Mode of inheritance for gene HUWE1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HTT Louise Daugherty Mode of inheritance for gene HTT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HTRA2 Louise Daugherty Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HTRA1 Louise Daugherty Mode of inheritance for gene HTRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HSPG2 Louise Daugherty Mode of inheritance for gene HSPG2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HSPD1 Louise Daugherty Mode of inheritance for gene HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HSPB8 Louise Daugherty Mode of inheritance for gene HSPB8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HSPB1 Louise Daugherty Mode of inheritance for gene HSPB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HSF4 Louise Daugherty Mode of inheritance for gene HSF4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HSD3B7 Louise Daugherty Mode of inheritance for gene HSD3B7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HSD17B4 Louise Daugherty Mode of inheritance for gene HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HSD17B3 Louise Daugherty Mode of inheritance for gene HSD17B3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HSD17B10 Louise Daugherty Mode of inheritance for gene HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HRAS Louise Daugherty Mode of inheritance for gene HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HR Louise Daugherty Mode of inheritance for gene HR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPSE2 Louise Daugherty Mode of inheritance for gene HPSE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPS6 Louise Daugherty Mode of inheritance for gene HPS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPS5 Louise Daugherty Mode of inheritance for gene HPS5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPS4 Louise Daugherty Mode of inheritance for gene HPS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPS3 Louise Daugherty Mode of inheritance for gene HPS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPS1 Louise Daugherty Mode of inheritance for gene HPS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPRT1 Louise Daugherty Mode of inheritance for gene HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 HPGD Louise Daugherty Mode of inheritance for gene HPGD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPD Louise Daugherty Mode of inheritance for gene HPD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HPCA Louise Daugherty Mode of inheritance for gene HPCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HOXD13 Louise Daugherty Mode of inheritance for gene HOXD13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HOXC13 Louise Daugherty Mode of inheritance for gene HOXC13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HOXA13 Louise Daugherty Mode of inheritance for gene HOXA13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HOXA11 Louise Daugherty Mode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HOXA1 Louise Daugherty Mode of inheritance for gene HOXA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HOGA1 Louise Daugherty Mode of inheritance for gene HOGA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HNRNPU Louise Daugherty Mode of inheritance for gene HNRNPU was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HNRNPK Louise Daugherty Mode of inheritance for gene HNRNPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HNRNPH2 Louise Daugherty Mode of inheritance for gene HNRNPH2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HNRNPH1 Louise Daugherty Mode of inheritance for gene HNRNPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HNF4A Louise Daugherty Mode of inheritance for gene HNF4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HNF1B Louise Daugherty Mode of inheritance for gene HNF1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HMGCS2 Louise Daugherty Mode of inheritance for gene HMGCS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HMGCL Louise Daugherty Mode of inheritance for gene HMGCL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HMBS Louise Daugherty Mode of inheritance for gene HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HLCS Louise Daugherty Mode of inheritance for gene HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HK1 Louise Daugherty Mode of inheritance for gene HK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HFE2 Louise Daugherty Mode of inheritance for gene HFE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HIVEP2 Louise Daugherty Mode of inheritance for gene HIVEP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HINT1 Louise Daugherty Mode of inheritance for gene HINT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HIBCH Louise Daugherty Mode of inheritance for gene HIBCH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HGSNAT Louise Daugherty Mode of inheritance for gene HGSNAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HGD Louise Daugherty Mode of inheritance for gene HGD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HFE Louise Daugherty Mode of inheritance for gene HFE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HEXB Louise Daugherty Mode of inheritance for gene HEXB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HEXA Louise Daugherty Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HESX1 Louise Daugherty Mode of inheritance for gene HESX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HES7 Louise Daugherty Mode of inheritance for gene HES7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HERC1 Louise Daugherty Mode of inheritance for gene HERC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HEPACAM Louise Daugherty Mode of inheritance for gene HEPACAM was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HELLS Louise Daugherty Mode of inheritance for gene HELLS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HECW2 Louise Daugherty Mode of inheritance for gene HECW2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HDAC8 Louise Daugherty Mode of inheritance for gene HDAC8 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HDAC4 Louise Daugherty Mode of inheritance for gene HDAC4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HCN2 Louise Daugherty Mode of inheritance for gene HCN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HCN1 Louise Daugherty Mode of inheritance for gene HCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HCFC1 Louise Daugherty Mode of inheritance for gene HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 HCCS Louise Daugherty Mode of inheritance for gene HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HBB Louise Daugherty Mode of inheritance for gene HBB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HBA2 Louise Daugherty Mode of inheritance for gene HBA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HBA1 Louise Daugherty Mode of inheritance for gene HBA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HAX1 Louise Daugherty Mode of inheritance for gene HAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HAMP Louise Daugherty Mode of inheritance for gene HAMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HADHB Louise Daugherty Mode of inheritance for gene HADHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HADHA Louise Daugherty Mode of inheritance for gene HADHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HADH Louise Daugherty Mode of inheritance for gene HADH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HACE1 Louise Daugherty Mode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HAAO Louise Daugherty Mode of inheritance for gene HAAO was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 H19 Louise Daugherty Mode of inheritance for gene H19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HIST1H1E Louise Daugherty Mode of inheritance for gene HIST1H1E was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GZF1 Louise Daugherty Mode of inheritance for gene GZF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GYS2 Louise Daugherty Mode of inheritance for gene GYS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GYS1 Louise Daugherty Mode of inheritance for gene GYS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GYG1 Louise Daugherty Mode of inheritance for gene GYG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GUSB Louise Daugherty Mode of inheritance for gene GUSB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GUCY2C Louise Daugherty Mode of inheritance for gene GUCY2C was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GTPBP3 Louise Daugherty Mode of inheritance for gene GTPBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GTPBP2 Louise Daugherty Mode of inheritance for gene GTPBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GTF2H5 Louise Daugherty Mode of inheritance for gene GTF2H5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GSS Louise Daugherty Mode of inheritance for gene GSS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DFNA5 Louise Daugherty Mode of inheritance for gene DFNA5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GSC Louise Daugherty Mode of inheritance for gene GSC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRN Louise Daugherty Mode of inheritance for gene GRN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRM6 Louise Daugherty Mode of inheritance for gene GRM6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRM1 Louise Daugherty Mode of inheritance for gene GRM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRIP1 Louise Daugherty Mode of inheritance for gene GRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRIN2D Louise Daugherty Mode of inheritance for gene GRIN2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GRIN2B Louise Daugherty Mode of inheritance for gene GRIN2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GRIN2A Louise Daugherty Mode of inheritance for gene GRIN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GRIN1 Louise Daugherty Mode of inheritance for gene GRIN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRIK2 Louise Daugherty Mode of inheritance for gene GRIK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRID2 Louise Daugherty Mode of inheritance for gene GRID2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRIA4 Louise Daugherty Mode of inheritance for gene GRIA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GRIA3 Louise Daugherty Mode of inheritance for gene GRIA3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 GRIA2 Louise Daugherty Mode of inheritance for gene GRIA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GRHPR Louise Daugherty Mode of inheritance for gene GRHPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GRHL3 Louise Daugherty Mode of inheritance for gene GRHL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GPT2 Louise Daugherty Mode of inheritance for gene GPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPSM2 Louise Daugherty Mode of inheritance for gene GPSM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPR179 Louise Daugherty Mode of inheritance for gene GPR179 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPR143 Louise Daugherty Mode of inheritance for gene GPR143 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GPI Louise Daugherty Mode of inheritance for gene GPI was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPHN Louise Daugherty Mode of inheritance for gene GPHN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPD1 Louise Daugherty Mode of inheritance for gene GPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPC6 Louise Daugherty Mode of inheritance for gene GPC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GPC3 Louise Daugherty Mode of inheritance for gene GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 GPAA1 Louise Daugherty Mode of inheritance for gene GPAA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GP9 Louise Daugherty Mode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GP6 Louise Daugherty Mode of inheritance for gene GP6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GP1BB Louise Daugherty Mode of inheritance for gene GP1BB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GP1BA Louise Daugherty Mode of inheritance for gene GP1BA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GOSR2 Louise Daugherty Mode of inheritance for gene GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GORAB Louise Daugherty Mode of inheritance for gene GORAB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNS Louise Daugherty Mode of inheritance for gene GNS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNPTG Louise Daugherty Mode of inheritance for gene GNPTG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNPTAB Louise Daugherty Mode of inheritance for gene GNPTAB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNPAT Louise Daugherty Mode of inheritance for gene GNPAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNMT Louise Daugherty Mode of inheritance for gene GNMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNE Louise Daugherty Mode of inheritance for gene GNE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNB5 Louise Daugherty Mode of inheritance for gene GNB5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNB1 Louise Daugherty Mode of inheritance for gene GNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GNAS Louise Daugherty Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GNAO1 Louise Daugherty Mode of inheritance for gene GNAO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GNAL Louise Daugherty Mode of inheritance for gene GNAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GNAI3 Louise Daugherty Mode of inheritance for gene GNAI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GNAI1 Louise Daugherty Mode of inheritance for gene GNAI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GMPPB Louise Daugherty Mode of inheritance for gene GMPPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GMPPA Louise Daugherty Mode of inheritance for gene GMPPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GMNN Louise Daugherty Mode of inheritance for gene GMNN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GM2A Louise Daugherty Mode of inheritance for gene GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLYCTK Louise Daugherty Mode of inheritance for gene GLYCTK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLUL Louise Daugherty Mode of inheritance for gene GLUL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLUD1 Louise Daugherty Mode of inheritance for gene GLUD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GLRX5 Louise Daugherty Mode of inheritance for gene GLRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLRB Louise Daugherty Mode of inheritance for gene GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLRA1 Louise Daugherty Mode of inheritance for gene GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLMN Louise Daugherty Mode of inheritance for gene GLMN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GLIS3 Louise Daugherty Mode of inheritance for gene GLIS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLI3 Louise Daugherty Mode of inheritance for gene GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GLI2 Louise Daugherty Mode of inheritance for gene GLI2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GLI1 Louise Daugherty Mode of inheritance for gene GLI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLE1 Louise Daugherty Mode of inheritance for gene GLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLDN Louise Daugherty Mode of inheritance for gene GLDN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLDC Louise Daugherty Mode of inheritance for gene GLDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLB1 Louise Daugherty Mode of inheritance for gene GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GLA Louise Daugherty Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GK Louise Daugherty Mode of inheritance for gene GK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 GJC2 Louise Daugherty Mode of inheritance for gene GJC2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GJB3 Louise Daugherty Mode of inheritance for gene GJB3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GJB2 Louise Daugherty Mode of inheritance for gene GJB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GJB1 Louise Daugherty Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GJA8 Louise Daugherty Mode of inheritance for gene GJA8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GJA3 Louise Daugherty Mode of inheritance for gene GJA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GJA1 Louise Daugherty Mode of inheritance for gene GJA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GIPC3 Louise Daugherty Mode of inheritance for gene GIPC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GINS1 Louise Daugherty Mode of inheritance for gene GINS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GHRHR Louise Daugherty Mode of inheritance for gene GHRHR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GHR Louise Daugherty Mode of inheritance for gene GHR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GH1 Louise Daugherty Mode of inheritance for gene GH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GGCX Louise Daugherty Mode of inheritance for gene GGCX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GFPT1 Louise Daugherty Mode of inheritance for gene GFPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GFM2 Louise Daugherty Mode of inheritance for gene GFM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GFM1 Louise Daugherty Mode of inheritance for gene GFM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GFI1B Louise Daugherty Mode of inheritance for gene GFI1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GFER Louise Daugherty Mode of inheritance for gene GFER was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GFAP Louise Daugherty Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GDI1 Louise Daugherty Mode of inheritance for gene GDI1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GDF6 Louise Daugherty Mode of inheritance for gene GDF6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GDF5 Louise Daugherty Mode of inheritance for gene GDF5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GDAP1 Louise Daugherty Mode of inheritance for gene GDAP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GCLC Louise Daugherty Mode of inheritance for gene GCLC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GCK Louise Daugherty Mode of inheritance for gene GCK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GCH1 Louise Daugherty Mode of inheritance for gene GCH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GCDH Louise Daugherty Mode of inheritance for gene GCDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GBE1 Louise Daugherty Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GBA2 Louise Daugherty Mode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GBA Louise Daugherty Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GATM Louise Daugherty Mode of inheritance for gene GATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GATAD2B Louise Daugherty Mode of inheritance for gene GATAD2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GATA6 Louise Daugherty Mode of inheritance for gene GATA6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GATA4 Louise Daugherty Mode of inheritance for gene GATA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GATA3 Louise Daugherty Mode of inheritance for gene GATA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GATA2 Louise Daugherty Mode of inheritance for gene GATA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GATA1 Louise Daugherty Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 GAS8 Louise Daugherty Mode of inheritance for gene GAS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GARS Louise Daugherty Mode of inheritance for gene GARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GANAB Louise Daugherty Mode of inheritance for gene GANAB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GAN Louise Daugherty Mode of inheritance for gene GAN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GAMT Louise Daugherty Mode of inheritance for gene GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GALT Louise Daugherty Mode of inheritance for gene GALT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GALNT3 Louise Daugherty Mode of inheritance for gene GALNT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GALNS Louise Daugherty Mode of inheritance for gene GALNS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GALK1 Louise Daugherty Mode of inheritance for gene GALK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GALE Louise Daugherty Mode of inheritance for gene GALE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GALC Louise Daugherty Mode of inheritance for gene GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GABRG2 Louise Daugherty Mode of inheritance for gene GABRG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GABRB3 Louise Daugherty Mode of inheritance for gene GABRB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GABRB2 Louise Daugherty Mode of inheritance for gene GABRB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GABRA2 Louise Daugherty Mode of inheritance for gene GABRA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GABRA1 Louise Daugherty Mode of inheritance for gene GABRA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GABBR2 Louise Daugherty Mode of inheritance for gene GABBR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GAA Louise Daugherty Mode of inheritance for gene GAA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 G6PD Louise Daugherty Mode of inheritance for gene G6PD was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 G6PC3 Louise Daugherty Mode of inheritance for gene G6PC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 G6PC Louise Daugherty Mode of inheritance for gene G6PC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FZD6 Louise Daugherty Mode of inheritance for gene FZD6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FZD2 Louise Daugherty Mode of inheritance for gene FZD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FYCO1 Louise Daugherty Mode of inheritance for gene FYCO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FYB1 Louise Daugherty Mode of inheritance for gene FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FXN Louise Daugherty Mode of inheritance for gene FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FUT8 Louise Daugherty Mode of inheritance for gene FUT8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FUCA1 Louise Daugherty Mode of inheritance for gene FUCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FTSJ1 Louise Daugherty Mode of inheritance for gene FTSJ1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FTL Louise Daugherty Mode of inheritance for gene FTL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FTCD Louise Daugherty Mode of inheritance for gene FTCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FRRS1L Louise Daugherty Mode of inheritance for gene FRRS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FRMPD4 Louise Daugherty Mode of inheritance for gene FRMPD4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FRMD7 Louise Daugherty Mode of inheritance for gene FRMD7 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FREM2 Louise Daugherty Mode of inheritance for gene FREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FREM1 Louise Daugherty Mode of inheritance for gene FREM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FRAS1 Louise Daugherty Mode of inheritance for gene FRAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FOXRED1 Louise Daugherty Mode of inheritance for gene FOXRED1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FOXP3 Louise Daugherty Mode of inheritance for gene FOXP3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FOXP2 Louise Daugherty Mode of inheritance for gene FOXP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FOXP1 Louise Daugherty Mode of inheritance for gene FOXP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FOXN1 Louise Daugherty Mode of inheritance for gene FOXN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FOXG1 Louise Daugherty Mode of inheritance for gene FOXG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FOXF1 Louise Daugherty Mode of inheritance for gene FOXF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FOXE3 Louise Daugherty Mode of inheritance for gene FOXE3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FOXE1 Louise Daugherty Mode of inheritance for gene FOXE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FOXC2 Louise Daugherty Mode of inheritance for gene FOXC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FOXC1 Louise Daugherty Mode of inheritance for gene FOXC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FOLR1 Louise Daugherty Mode of inheritance for gene FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FN1 Louise Daugherty Mode of inheritance for gene FN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FMR1 Louise Daugherty Mode of inheritance for gene FMR1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FMO3 Louise Daugherty Mode of inheritance for gene FMO3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FMN2 Louise Daugherty Mode of inheritance for gene FMN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FLVCR2 Louise Daugherty Mode of inheritance for gene FLVCR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FLVCR1 Louise Daugherty Mode of inheritance for gene FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FLT4 Louise Daugherty Mode of inheritance for gene FLT4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FLNC Louise Daugherty Mode of inheritance for gene FLNC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FLNB Louise Daugherty Mode of inheritance for gene FLNB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FLNA Louise Daugherty Mode of inheritance for gene FLNA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FLI1 Louise Daugherty Mode of inheritance for gene FLI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FLCN Louise Daugherty Mode of inheritance for gene FLCN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FLAD1 Louise Daugherty Mode of inheritance for gene FLAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FKTN Louise Daugherty Mode of inheritance for gene FKTN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FKRP Louise Daugherty Mode of inheritance for gene FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FKBP14 Louise Daugherty Mode of inheritance for gene FKBP14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FKBP10 Louise Daugherty Mode of inheritance for gene FKBP10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FIG4 Louise Daugherty Mode of inheritance for gene FIG4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FHL1 Louise Daugherty Mode of inheritance for gene FHL1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FH Louise Daugherty Mode of inheritance for gene FH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGG Louise Daugherty Mode of inheritance for gene FGG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGFR3 Louise Daugherty Mode of inheritance for gene FGFR3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGFR2 Louise Daugherty Mode of inheritance for gene FGFR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FGFR1 Louise Daugherty Mode of inheritance for gene FGFR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FGF8 Louise Daugherty Mode of inheritance for gene FGF8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FGF3 Louise Daugherty Mode of inheritance for gene FGF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGF23 Louise Daugherty Mode of inheritance for gene FGF23 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FGF16 Louise Daugherty Mode of inheritance for gene FGF16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FGF14 Louise Daugherty Mode of inheritance for gene FGF14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FGF12 Louise Daugherty Mode of inheritance for gene FGF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FGF10 Louise Daugherty Mode of inheritance for gene FGF10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FGD4 Louise Daugherty Mode of inheritance for gene FGD4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGD1 Louise Daugherty Mode of inheritance for gene FGD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FGB Louise Daugherty Mode of inheritance for gene FGB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGA Louise Daugherty Mode of inheritance for gene FGA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FERMT3 Louise Daugherty Mode of inheritance for gene FERMT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FECH Louise Daugherty Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FDXR Louise Daugherty Mode of inheritance for gene FDXR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FDX2 Louise Daugherty Mode of inheritance for gene FDX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FCN3 Louise Daugherty Mode of inheritance for gene FCN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FCGR3B Louise Daugherty Mode of inheritance for gene FCGR3B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FCGR3A Louise Daugherty Mode of inheritance for gene FCGR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FBXO7 Louise Daugherty Mode of inheritance for gene FBXO7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FBXO11 Louise Daugherty Mode of inheritance for gene FBXO11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FBXL4 Louise Daugherty Mode of inheritance for gene FBXL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FBXL3 Louise Daugherty Mode of inheritance for gene FBXL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FBP1 Louise Daugherty Mode of inheritance for gene FBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FBN2 Louise Daugherty Mode of inheritance for gene FBN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FBN1 Louise Daugherty Mode of inheritance for gene FBN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FBLN5 Louise Daugherty Mode of inheritance for gene FBLN5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAT4 Louise Daugherty Mode of inheritance for gene FAT4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FASLG Louise Daugherty Mode of inheritance for gene FASLG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FAS Louise Daugherty Mode of inheritance for gene FAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FARS2 Louise Daugherty Mode of inheritance for gene FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAR1 Louise Daugherty Mode of inheritance for gene FAR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCL Louise Daugherty Mode of inheritance for gene FANCL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCI Louise Daugherty Mode of inheritance for gene FANCI was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCG Louise Daugherty Mode of inheritance for gene FANCG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCF Louise Daugherty Mode of inheritance for gene FANCF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCE Louise Daugherty Mode of inheritance for gene FANCE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCD2 Louise Daugherty Mode of inheritance for gene FANCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCC Louise Daugherty Mode of inheritance for gene FANCC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FANCB Louise Daugherty Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FANCA Louise Daugherty Mode of inheritance for gene FANCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAM20C Louise Daugherty Mode of inheritance for gene FAM20C was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAM20A Louise Daugherty Mode of inheritance for gene FAM20A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAM161A Louise Daugherty Mode of inheritance for gene FAM161A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAM126A Louise Daugherty Mode of inheritance for gene FAM126A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAM111B Louise Daugherty Mode of inheritance for gene FAM111B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FAM111A Louise Daugherty Mode of inheritance for gene FAM111A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FAH Louise Daugherty Mode of inheritance for gene FAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FADD Louise Daugherty Mode of inheritance for gene FADD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FA2H Louise Daugherty Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F9 Louise Daugherty Mode of inheritance for gene F9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 F8 Louise Daugherty Mode of inheritance for gene F8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 F7 Louise Daugherty Mode of inheritance for gene F7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F5 Louise Daugherty Mode of inheritance for gene F5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F2 Louise Daugherty Mode of inheritance for gene F2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F13B Louise Daugherty Mode of inheritance for gene F13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F13A1 Louise Daugherty Mode of inheritance for gene F13A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F12 Louise Daugherty Mode of inheritance for gene F12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F11 Louise Daugherty Mode of inheritance for gene F11 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F10 Louise Daugherty Mode of inheritance for gene F10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EZH2 Louise Daugherty Mode of inheritance for gene EZH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EYA4 Louise Daugherty Mode of inheritance for gene EYA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EYA1 Louise Daugherty Mode of inheritance for gene EYA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EXTL3 Louise Daugherty Mode of inheritance for gene EXTL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EXT2 Louise Daugherty Mode of inheritance for gene EXT2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EXT1 Louise Daugherty Mode of inheritance for gene EXT1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EXOSC3 Louise Daugherty Mode of inheritance for gene EXOSC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EVC2 Louise Daugherty Mode of inheritance for gene EVC2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EVC Louise Daugherty Mode of inheritance for gene EVC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETV6 Louise Daugherty Mode of inheritance for gene ETV6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETHE1 Louise Daugherty Mode of inheritance for gene ETHE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETFDH Louise Daugherty Mode of inheritance for gene ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETFB Louise Daugherty Mode of inheritance for gene ETFB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ETFA Louise Daugherty Mode of inheritance for gene ETFA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ESRRB Louise Daugherty Mode of inheritance for gene ESRRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ESCO2 Louise Daugherty Mode of inheritance for gene ESCO2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERLIN2 Louise Daugherty Mode of inheritance for gene ERLIN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERLIN1 Louise Daugherty Mode of inheritance for gene ERLIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERF Louise Daugherty Mode of inheritance for gene ERF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ERCC8 Louise Daugherty Mode of inheritance for gene ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC6L2 Louise Daugherty Mode of inheritance for gene ERCC6L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC6 Louise Daugherty Mode of inheritance for gene ERCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC5 Louise Daugherty Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC4 Louise Daugherty Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC3 Louise Daugherty Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC2 Louise Daugherty Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ERCC1 Louise Daugherty Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EPRS Louise Daugherty Mode of inheritance for gene EPRS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EPM2A Louise Daugherty Mode of inheritance for gene EPM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EPHB4 Louise Daugherty Mode of inheritance for gene EPHB4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EPG5 Louise Daugherty Mode of inheritance for gene EPG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EPB42 Louise Daugherty Mode of inheritance for gene EPB42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EPB41 Louise Daugherty Mode of inheritance for gene EPB41 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EP300 Louise Daugherty Mode of inheritance for gene EP300 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EOGT Louise Daugherty Mode of inheritance for gene EOGT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ENTPD1 Louise Daugherty Mode of inheritance for gene ENTPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ENPP1 Louise Daugherty Mode of inheritance for gene ENPP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ENO3 Louise Daugherty Mode of inheritance for gene ENO3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ENG Louise Daugherty Mode of inheritance for gene ENG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EMX2 Louise Daugherty Mode of inheritance for gene EMX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EML1 Louise Daugherty Mode of inheritance for gene EML1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EMD Louise Daugherty Mode of inheritance for gene EMD was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 EMC1 Louise Daugherty Mode of inheritance for gene EMC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ELP2 Louise Daugherty Mode of inheritance for gene ELP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ELP1 Louise Daugherty Mode of inheritance for gene ELP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ELOVL5 Louise Daugherty Mode of inheritance for gene ELOVL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ELOVL4 Louise Daugherty Mode of inheritance for gene ELOVL4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ELN Louise Daugherty Mode of inheritance for gene ELN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ELANE Louise Daugherty Mode of inheritance for gene ELANE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ELAC2 Louise Daugherty Mode of inheritance for gene ELAC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF4A3 Louise Daugherty Mode of inheritance for gene EIF4A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF3F Louise Daugherty Mode of inheritance for gene EIF3F was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2S3 Louise Daugherty Mode of inheritance for gene EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 EIF2B5 Louise Daugherty Mode of inheritance for gene EIF2B5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B4 Louise Daugherty Mode of inheritance for gene EIF2B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B3 Louise Daugherty Mode of inheritance for gene EIF2B3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B2 Louise Daugherty Mode of inheritance for gene EIF2B2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B1 Louise Daugherty Mode of inheritance for gene EIF2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2AK3 Louise Daugherty Mode of inheritance for gene EIF2AK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EHMT1 Louise Daugherty Mode of inheritance for gene EHMT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EGR2 Louise Daugherty Mode of inheritance for gene EGR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EFTUD2 Louise Daugherty Mode of inheritance for gene EFTUD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EFNB1 Louise Daugherty Mode of inheritance for gene EFNB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 EFHC1 Louise Daugherty Mode of inheritance for gene EFHC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EEF1A2 Louise Daugherty Mode of inheritance for gene EEF1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EED Louise Daugherty Mode of inheritance for gene EED was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EDNRB Louise Daugherty Mode of inheritance for gene EDNRB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EDNRA Louise Daugherty Mode of inheritance for gene EDNRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EDARADD Louise Daugherty Mode of inheritance for gene EDARADD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EDAR Louise Daugherty Mode of inheritance for gene EDAR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EDA Louise Daugherty Mode of inheritance for gene EDA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ECHS1 Louise Daugherty Mode of inheritance for gene ECHS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ECEL1 Louise Daugherty Mode of inheritance for gene ECEL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EBP Louise Daugherty Mode of inheritance for gene EBP was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 EBF3 Louise Daugherty Mode of inheritance for gene EBF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 EARS2 Louise Daugherty Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DZIP1L Louise Daugherty Mode of inheritance for gene DZIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DYSF Louise Daugherty Mode of inheritance for gene DYSF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DYRK1A Louise Daugherty Mode of inheritance for gene DYRK1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DYNC2LI1 Louise Daugherty Mode of inheritance for gene DYNC2LI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DYNC2H1 Louise Daugherty Mode of inheritance for gene DYNC2H1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DYNC1H1 Louise Daugherty Mode of inheritance for gene DYNC1H1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DYM Louise Daugherty Mode of inheritance for gene DYM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DVL3 Louise Daugherty Mode of inheritance for gene DVL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DVL1 Louise Daugherty Mode of inheritance for gene DVL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DUOX2 Louise Daugherty Mode of inheritance for gene DUOX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DTNBP1 Louise Daugherty Mode of inheritance for gene DTNBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DSTYK Louise Daugherty Mode of inheritance for gene DSTYK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DSPP Louise Daugherty Mode of inheritance for gene DSPP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DSP Louise Daugherty Mode of inheritance for gene DSP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPYS Louise Daugherty Mode of inheritance for gene DPYS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPYD Louise Daugherty Mode of inheritance for gene DPYD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPP6 Louise Daugherty Mode of inheritance for gene DPP6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPM3 Louise Daugherty Mode of inheritance for gene DPM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPM2 Louise Daugherty Mode of inheritance for gene DPM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPM1 Louise Daugherty Mode of inheritance for gene DPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPH1 Louise Daugherty Mode of inheritance for gene DPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPF2 Louise Daugherty Mode of inheritance for gene DPF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DPAGT1 Louise Daugherty Mode of inheritance for gene DPAGT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DONSON Louise Daugherty Mode of inheritance for gene DONSON was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DOLK Louise Daugherty Mode of inheritance for gene DOLK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DOK7 Louise Daugherty Mode of inheritance for gene DOK7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DOCK8 Louise Daugherty Mode of inheritance for gene DOCK8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DOCK7 Louise Daugherty Mode of inheritance for gene DOCK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DOCK6 Louise Daugherty Mode of inheritance for gene DOCK6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DOCK3 Louise Daugherty Mode of inheritance for gene DOCK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DOCK2 Louise Daugherty Mode of inheritance for gene DOCK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNMT3B Louise Daugherty Mode of inheritance for gene DNMT3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNMT3A Louise Daugherty Mode of inheritance for gene DNMT3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DNMT1 Louise Daugherty Mode of inheritance for gene DNMT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DNM2 Louise Daugherty Mode of inheritance for gene DNM2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNM1L Louise Daugherty Mode of inheritance for gene DNM1L was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNM1 Louise Daugherty Mode of inheritance for gene DNM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DNASE2 Louise Daugherty Mode of inheritance for gene DNASE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAJC5 Louise Daugherty Mode of inheritance for gene DNAJC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DNAJC21 Louise Daugherty Mode of inheritance for gene DNAJC21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAJC19 Louise Daugherty Mode of inheritance for gene DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAJC12 Louise Daugherty Mode of inheritance for gene DNAJC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAJB6 Louise Daugherty Mode of inheritance for gene DNAJB6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DNAJB11 Louise Daugherty Mode of inheritance for gene DNAJB11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DNAI1 Louise Daugherty Mode of inheritance for gene DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAH9 Louise Daugherty Mode of inheritance for gene DNAH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAH5 Louise Daugherty Mode of inheritance for gene DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAH11 Louise Daugherty Mode of inheritance for gene DNAH11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAAF4 Louise Daugherty Mode of inheritance for gene DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAAF3 Louise Daugherty Mode of inheritance for gene DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNAAF1 Louise Daugherty Mode of inheritance for gene DNAAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DNA2 Louise Daugherty Mode of inheritance for gene DNA2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DMPK Louise Daugherty Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DMP1 Louise Daugherty Mode of inheritance for gene DMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DMD Louise Daugherty Mode of inheritance for gene DMD was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 DLX5 Louise Daugherty Mode of inheritance for gene DLX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DLX3 Louise Daugherty Mode of inheritance for gene DLX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DLL4 Louise Daugherty Mode of inheritance for gene DLL4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DLL3 Louise Daugherty Mode of inheritance for gene DLL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DLG4 Louise Daugherty Mode of inheritance for gene DLG4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DLG3 Louise Daugherty Mode of inheritance for gene DLG3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 DLD Louise Daugherty Mode of inheritance for gene DLD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DLAT Louise Daugherty Mode of inheritance for gene DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DKC1 Louise Daugherty Mode of inheritance for gene DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 DISP1 Louise Daugherty Mode of inheritance for gene DISP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DIS3L2 Louise Daugherty Mode of inheritance for gene DIS3L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DIAPH1 Louise Daugherty Mode of inheritance for gene DIAPH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHX30 Louise Daugherty Mode of inheritance for gene DHX30 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DHTKD1 Louise Daugherty Mode of inheritance for gene DHTKD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHPS Louise Daugherty Mode of inheritance for gene DHPS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHODH Louise Daugherty Mode of inheritance for gene DHODH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHFR Louise Daugherty Mode of inheritance for gene DHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHDDS Louise Daugherty Mode of inheritance for gene DHDDS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHCR7 Louise Daugherty Mode of inheritance for gene DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DHCR24 Louise Daugherty Mode of inheritance for gene DHCR24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DGUOK Louise Daugherty Mode of inheritance for gene DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DGKE Louise Daugherty Mode of inheritance for gene DGKE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DES Louise Daugherty Mode of inheritance for gene DES was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DEPDC5 Louise Daugherty Mode of inheritance for gene DEPDC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DENND5A Louise Daugherty Mode of inheritance for gene DENND5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DEGS1 Louise Daugherty Mode of inheritance for gene DEGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DEAF1 Louise Daugherty Mode of inheritance for gene DEAF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDX59 Louise Daugherty Mode of inheritance for gene DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDX3X Louise Daugherty Mode of inheritance for gene DDX3X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 DDX11 Louise Daugherty Mode of inheritance for gene DDX11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDR2 Louise Daugherty Mode of inheritance for gene DDR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDHD2 Louise Daugherty Mode of inheritance for gene DDHD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDHD1 Louise Daugherty Mode of inheritance for gene DDHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDC Louise Daugherty Mode of inheritance for gene DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDB2 Louise Daugherty Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCX Louise Daugherty Mode of inheritance for gene DCX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 DCTN1 Louise Daugherty Mode of inheritance for gene DCTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 DCPS Louise Daugherty Mode of inheritance for gene DCPS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCLRE1C Louise Daugherty Mode of inheritance for gene DCLRE1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCLRE1B Louise Daugherty Mode of inheritance for gene DCLRE1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCHS1 Louise Daugherty Mode of inheritance for gene DCHS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCDC2 Louise Daugherty Mode of inheritance for gene DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCC Louise Daugherty Mode of inheritance for gene DCC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCAF17 Louise Daugherty Mode of inheritance for gene DCAF17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DBT Louise Daugherty Mode of inheritance for gene DBT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DBH Louise Daugherty Mode of inheritance for gene DBH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DARS2 Louise Daugherty Mode of inheritance for gene DARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DARS Louise Daugherty Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DAG1 Louise Daugherty Mode of inheritance for gene DAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DAB1 Louise Daugherty Mode of inheritance for gene DAB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 D2HGDH Louise Daugherty Mode of inheritance for gene D2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP7B1 Louise Daugherty Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP4F22 Louise Daugherty Mode of inheritance for gene CYP4F22 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP2U1 Louise Daugherty Mode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP27B1 Louise Daugherty Mode of inheritance for gene CYP27B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP27A1 Louise Daugherty Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP21A2 Louise Daugherty Mode of inheritance for gene CYP21A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP1B1 Louise Daugherty Mode of inheritance for gene CYP1B1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP17A1 Louise Daugherty Mode of inheritance for gene CYP17A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP11B1 Louise Daugherty Mode of inheritance for gene CYP11B1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYP11A1 Louise Daugherty Mode of inheritance for gene CYP11A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYFIP2 Louise Daugherty Mode of inheritance for gene CYFIP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CYCS Louise Daugherty Mode of inheritance for gene CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CYC1 Louise Daugherty Mode of inheritance for gene CYC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYBB Louise Daugherty Mode of inheritance for gene CYBB was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CYBA Louise Daugherty Mode of inheritance for gene CYBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CYB5R3 Louise Daugherty Mode of inheritance for gene CYB5R3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CXCR4 Louise Daugherty Mode of inheritance for gene CXCR4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CWF19L1 Louise Daugherty Mode of inheritance for gene CWF19L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CWC27 Louise Daugherty Mode of inheritance for gene CWC27 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CUX2 Louise Daugherty Mode of inheritance for gene CUX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CUX1 Louise Daugherty Mode of inheritance for gene CUX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CUL7 Louise Daugherty Mode of inheritance for gene CUL7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CUL4B Louise Daugherty Mode of inheritance for gene CUL4B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CUBN Louise Daugherty Mode of inheritance for gene CUBN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTSK Louise Daugherty Mode of inheritance for gene CTSK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTSF Louise Daugherty Mode of inheritance for gene CTSF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTSD Louise Daugherty Mode of inheritance for gene CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTSC Louise Daugherty Mode of inheritance for gene CTSC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTSA Louise Daugherty Mode of inheritance for gene CTSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTPS1 Louise Daugherty Mode of inheritance for gene CTPS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTNS Louise Daugherty Mode of inheritance for gene CTNS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTNND1 Louise Daugherty Mode of inheritance for gene CTNND1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CTNNB1 Louise Daugherty Mode of inheritance for gene CTNNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CTNNA2 Louise Daugherty Mode of inheritance for gene CTNNA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTLA4 Louise Daugherty Mode of inheritance for gene CTLA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CTH Louise Daugherty Mode of inheritance for gene CTH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTDP1 Louise Daugherty Mode of inheritance for gene CTDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTCF Louise Daugherty Mode of inheritance for gene CTCF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CTC1 Louise Daugherty Mode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CTBP1 Louise Daugherty Mode of inheritance for gene CTBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CSTB Louise Daugherty Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CSPP1 Louise Daugherty Mode of inheritance for gene CSPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CSNK2B Louise Daugherty Mode of inheritance for gene CSNK2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CSNK2A1 Louise Daugherty Mode of inheritance for gene CSNK2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CSF3R Louise Daugherty Mode of inheritance for gene CSF3R was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CSF2RB Louise Daugherty Mode of inheritance for gene CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CSF2RA Louise Daugherty Mode of inheritance for gene CSF2RA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CSF1R Louise Daugherty Mode of inheritance for gene CSF1R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRYGD Louise Daugherty Mode of inheritance for gene CRYGD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CRYGC Louise Daugherty Mode of inheritance for gene CRYGC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CRYBB3 Louise Daugherty Mode of inheritance for gene CRYBB3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRYBB2 Louise Daugherty Mode of inheritance for gene CRYBB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CRYBB1 Louise Daugherty Mode of inheritance for gene CRYBB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRYBA4 Louise Daugherty Mode of inheritance for gene CRYBA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CRYBA1 Louise Daugherty Mode of inheritance for gene CRYBA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CRYAB Louise Daugherty Mode of inheritance for gene CRYAB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRYAA Louise Daugherty Mode of inheritance for gene CRYAA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRX Louise Daugherty Mode of inheritance for gene CRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRTAP Louise Daugherty Mode of inheritance for gene CRTAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ISPD Louise Daugherty Mode of inheritance for gene ISPD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRLF1 Louise Daugherty Mode of inheritance for gene CRLF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRIPT Louise Daugherty Mode of inheritance for gene CRIPT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CREBBP Louise Daugherty Mode of inheritance for gene CREBBP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRB2 Louise Daugherty Mode of inheritance for gene CRB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRB1 Louise Daugherty Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CRADD Louise Daugherty Mode of inheritance for gene CRADD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CR2 Louise Daugherty Mode of inheritance for gene CR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPT2 Louise Daugherty Mode of inheritance for gene CPT2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPT1A Louise Daugherty Mode of inheritance for gene CPT1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPS1 Louise Daugherty Mode of inheritance for gene CPS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPOX Louise Daugherty Mode of inheritance for gene CPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 C5orf42 Louise Daugherty Mode of inheritance for gene C5orf42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPA6 Louise Daugherty Mode of inheritance for gene CPA6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CP Louise Daugherty Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COX7B Louise Daugherty Mode of inheritance for gene COX7B was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 COX6B1 Louise Daugherty Mode of inheritance for gene COX6B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COX6A1 Louise Daugherty Mode of inheritance for gene COX6A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COX20 Louise Daugherty Mode of inheritance for gene COX20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COX15 Louise Daugherty Mode of inheritance for gene COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COX10 Louise Daugherty Mode of inheritance for gene COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CORO1A Louise Daugherty Mode of inheritance for gene CORO1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COQ9 Louise Daugherty Mode of inheritance for gene COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COQ8B Louise Daugherty Mode of inheritance for gene COQ8B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COQ8A Louise Daugherty Mode of inheritance for gene COQ8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COQ6 Louise Daugherty Mode of inheritance for gene COQ6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COQ4 Louise Daugherty Mode of inheritance for gene COQ4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COQ2 Louise Daugherty Mode of inheritance for gene COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COPA Louise Daugherty Mode of inheritance for gene COPA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COMP Louise Daugherty Mode of inheritance for gene COMP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COLQ Louise Daugherty Mode of inheritance for gene COLQ was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COLEC11 Louise Daugherty Mode of inheritance for gene COLEC11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COLEC10 Louise Daugherty Mode of inheritance for gene COLEC10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL9A3 Louise Daugherty Mode of inheritance for gene COL9A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COL9A2 Louise Daugherty Mode of inheritance for gene COL9A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL9A1 Louise Daugherty Mode of inheritance for gene COL9A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL7A1 Louise Daugherty Mode of inheritance for gene COL7A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL6A3 Louise Daugherty Mode of inheritance for gene COL6A3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL6A2 Louise Daugherty Mode of inheritance for gene COL6A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL6A1 Louise Daugherty Mode of inheritance for gene COL6A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL5A2 Louise Daugherty Mode of inheritance for gene COL5A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COL5A1 Louise Daugherty Mode of inheritance for gene COL5A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COL4A5 Louise Daugherty Mode of inheritance for gene COL4A5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 COL4A4 Louise Daugherty Mode of inheritance for gene COL4A4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL4A3 Louise Daugherty Mode of inheritance for gene COL4A3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL4A2 Louise Daugherty Mode of inheritance for gene COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COL4A1 Louise Daugherty Mode of inheritance for gene COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COL3A1 Louise Daugherty Mode of inheritance for gene COL3A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL2A1 Louise Daugherty Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COL1A2 Louise Daugherty Mode of inheritance for gene COL1A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL1A1 Louise Daugherty Mode of inheritance for gene COL1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COL18A1 Louise Daugherty Mode of inheritance for gene COL18A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL17A1 Louise Daugherty Mode of inheritance for gene COL17A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL13A1 Louise Daugherty Mode of inheritance for gene COL13A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL12A1 Louise Daugherty Mode of inheritance for gene COL12A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL11A2 Louise Daugherty Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL11A1 Louise Daugherty Mode of inheritance for gene COL11A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL10A1 Louise Daugherty Mode of inheritance for gene COL10A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 COG8 Louise Daugherty Mode of inheritance for gene COG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COG7 Louise Daugherty Mode of inheritance for gene COG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COG6 Louise Daugherty Mode of inheritance for gene COG6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COG5 Louise Daugherty Mode of inheritance for gene COG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COG4 Louise Daugherty Mode of inheritance for gene COG4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COG1 Louise Daugherty Mode of inheritance for gene COG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COCH Louise Daugherty Mode of inheritance for gene COCH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COASY Louise Daugherty Mode of inheritance for gene COASY was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 APOPT1 Louise Daugherty Mode of inheritance for gene APOPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COA7 Louise Daugherty Mode of inheritance for gene COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COA6 Louise Daugherty Mode of inheritance for gene COA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CNTNAP2 Louise Daugherty Mode of inheritance for gene CNTNAP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CNTNAP1 Louise Daugherty Mode of inheritance for gene CNTNAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CNPY3 Louise Daugherty Mode of inheritance for gene CNPY3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CNOT3 Louise Daugherty Mode of inheritance for gene CNOT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CNOT1 Louise Daugherty Mode of inheritance for gene CNOT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CNNM2 Louise Daugherty Mode of inheritance for gene CNNM2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CNKSR2 Louise Daugherty Mode of inheritance for gene CNKSR2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CNGB3 Louise Daugherty Mode of inheritance for gene CNGB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CNBP Louise Daugherty Mode of inheritance for gene CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CLTC Louise Daugherty Mode of inheritance for gene CLTC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CLRN1 Louise Daugherty Mode of inheritance for gene CLRN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLPP Louise Daugherty Mode of inheritance for gene CLPP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLPB Louise Daugherty Mode of inheritance for gene CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLP1 Louise Daugherty Mode of inheritance for gene CLP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLN8 Louise Daugherty Mode of inheritance for gene CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLN6 Louise Daugherty Mode of inheritance for gene CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLN5 Louise Daugherty Mode of inheritance for gene CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLN3 Louise Daugherty Mode of inheritance for gene CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLDN19 Louise Daugherty Mode of inheritance for gene CLDN19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLDN16 Louise Daugherty Mode of inheritance for gene CLDN16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLDN14 Louise Daugherty Mode of inheritance for gene CLDN14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLDN1 Louise Daugherty Mode of inheritance for gene CLDN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLCN7 Louise Daugherty Mode of inheritance for gene CLCN7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CLCN5 Louise Daugherty Mode of inheritance for gene CLCN5 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CLCN4 Louise Daugherty Mode of inheritance for gene CLCN4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CLCN2 Louise Daugherty Mode of inheritance for gene CLCN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CKAP2L Louise Daugherty Mode of inheritance for gene CKAP2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CIT Louise Daugherty Mode of inheritance for gene CIT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CISD2 Louise Daugherty Mode of inheritance for gene CISD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ICK Louise Daugherty Mode of inheritance for gene ICK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CIITA Louise Daugherty Mode of inheritance for gene CIITA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CIC Louise Daugherty Mode of inheritance for gene CIC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CIB2 Louise Daugherty Mode of inheritance for gene CIB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHUK Louise Daugherty Mode of inheritance for gene CHUK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHSY1 Louise Daugherty Mode of inheritance for gene CHSY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHST6 Louise Daugherty Mode of inheritance for gene CHST6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHST3 Louise Daugherty Mode of inheritance for gene CHST3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHST14 Louise Daugherty Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNG Louise Daugherty Mode of inheritance for gene CHRNG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNE Louise Daugherty Mode of inheritance for gene CHRNE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRND Louise Daugherty Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNB2 Louise Daugherty Mode of inheritance for gene CHRNB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHRNB1 Louise Daugherty Mode of inheritance for gene CHRNB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNA4 Louise Daugherty Mode of inheritance for gene CHRNA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHRNA2 Louise Daugherty Mode of inheritance for gene CHRNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHRNA1 Louise Daugherty Mode of inheritance for gene CHRNA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRDL1 Louise Daugherty Mode of inheritance for gene CHRDL1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CHMP2B Louise Daugherty Mode of inheritance for gene CHMP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHMP1A Louise Daugherty Mode of inheritance for gene CHMP1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHM Louise Daugherty Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CHKB Louise Daugherty Mode of inheritance for gene CHKB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHD8 Louise Daugherty Mode of inheritance for gene CHD8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHD7 Louise Daugherty Mode of inheritance for gene CHD7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHD4 Louise Daugherty Mode of inheritance for gene CHD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHD3 Louise Daugherty Mode of inheritance for gene CHD3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHD2 Louise Daugherty Mode of inheritance for gene CHD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHCHD10 Louise Daugherty Mode of inheritance for gene CHCHD10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHAT Louise Daugherty Mode of inheritance for gene CHAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHAMP1 Louise Daugherty Mode of inheritance for gene CHAMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CFTR Louise Daugherty Mode of inheritance for gene CFTR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CFP Louise Daugherty Mode of inheritance for gene CFP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CFL2 Louise Daugherty Mode of inheritance for gene CFL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CFI Louise Daugherty Mode of inheritance for gene CFI was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CFHR5 Louise Daugherty Mode of inheritance for gene CFHR5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CFH Louise Daugherty Mode of inheritance for gene CFH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CFD Louise Daugherty Mode of inheritance for gene CFD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CFC1 Louise Daugherty Mode of inheritance for gene CFC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 C21orf2 Louise Daugherty Mode of inheritance for gene C21orf2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C11orf70 Louise Daugherty Mode of inheritance for gene C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL4A3BP Louise Daugherty Mode of inheritance for gene COL4A3BP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CEP83 Louise Daugherty Mode of inheritance for gene CEP83 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP63 Louise Daugherty Mode of inheritance for gene CEP63 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP57 Louise Daugherty Mode of inheritance for gene CEP57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP41 Louise Daugherty Mode of inheritance for gene CEP41 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP290 Louise Daugherty Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP164 Louise Daugherty Mode of inheritance for gene CEP164 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP152 Louise Daugherty Mode of inheritance for gene CEP152 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP135 Louise Daugherty Mode of inheritance for gene CEP135 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP120 Louise Daugherty Mode of inheritance for gene CEP120 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEP104 Louise Daugherty Mode of inheritance for gene CEP104 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CENPJ Louise Daugherty Mode of inheritance for gene CENPJ was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CENPF Louise Daugherty Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CEBPE Louise Daugherty Mode of inheritance for gene CEBPE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDX1 Louise Daugherty Mode of inheritance for gene CDX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDT1 Louise Daugherty Mode of inheritance for gene CDT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDSN Louise Daugherty Mode of inheritance for gene CDSN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDON Louise Daugherty Mode of inheritance for gene CDON was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDKN1C Louise Daugherty Mode of inheritance for gene CDKN1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDKL5 Louise Daugherty Mode of inheritance for gene CDKL5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CDK8 Louise Daugherty Mode of inheritance for gene CDK8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDK5RAP2 Louise Daugherty Mode of inheritance for gene CDK5RAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDK13 Louise Daugherty Mode of inheritance for gene CDK13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDK10 Louise Daugherty Mode of inheritance for gene CDK10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDH3 Louise Daugherty Mode of inheritance for gene CDH3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDH23 Louise Daugherty Mode of inheritance for gene CDH23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDH15 Louise Daugherty Mode of inheritance for gene CDH15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDH11 Louise Daugherty Mode of inheritance for gene CDH11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDH1 Louise Daugherty Mode of inheritance for gene CDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDCA7 Louise Daugherty Mode of inheritance for gene CDCA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDC45 Louise Daugherty Mode of inheritance for gene CDC45 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CDC42 Louise Daugherty Mode of inheritance for gene CDC42 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CDAN1 Louise Daugherty Mode of inheritance for gene CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD8A Louise Daugherty Mode of inheritance for gene CD8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD81 Louise Daugherty Mode of inheritance for gene CD81 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD79B Louise Daugherty Mode of inheritance for gene CD79B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD79A Louise Daugherty Mode of inheritance for gene CD79A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD70 Louise Daugherty Mode of inheritance for gene CD70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD59 Louise Daugherty Mode of inheritance for gene CD59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD55 Louise Daugherty Mode of inheritance for gene CD55 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD40LG Louise Daugherty Mode of inheritance for gene CD40LG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CD40 Louise Daugherty Mode of inheritance for gene CD40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD3G Louise Daugherty Mode of inheritance for gene CD3G was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD3E Louise Daugherty Mode of inheritance for gene CD3E was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD3D Louise Daugherty Mode of inheritance for gene CD3D was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD27 Louise Daugherty Mode of inheritance for gene CD27 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD247 Louise Daugherty Mode of inheritance for gene CD247 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CD19 Louise Daugherty Mode of inheritance for gene CD19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCT5 Louise Daugherty Mode of inheritance for gene CCT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FAM58A Louise Daugherty Mode of inheritance for gene FAM58A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CCNO Louise Daugherty Mode of inheritance for gene CCNO was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCND2 Louise Daugherty Mode of inheritance for gene CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 WISP3 Louise Daugherty Mode of inheritance for gene WISP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC88C Louise Daugherty Mode of inheritance for gene CCDC88C was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC8 Louise Daugherty Mode of inheritance for gene CCDC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC65 Louise Daugherty Mode of inheritance for gene CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC47 Louise Daugherty Mode of inheritance for gene CCDC47 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC40 Louise Daugherty Mode of inheritance for gene CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC39 Louise Daugherty Mode of inheritance for gene CCDC39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC22 Louise Daugherty Mode of inheritance for gene CCDC22 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CCDC115 Louise Daugherty Mode of inheritance for gene CCDC115 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC114 Louise Daugherty Mode of inheritance for gene CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCDC103 Louise Daugherty Mode of inheritance for gene CCDC103 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CCBE1 Louise Daugherty Mode of inheritance for gene CCBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CC2D2A Louise Daugherty Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CC2D1A Louise Daugherty Mode of inheritance for gene CC2D1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CBS Louise Daugherty Mode of inheritance for gene CBS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GIF Louise Daugherty Mode of inheritance for gene GIF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CBL Louise Daugherty Mode of inheritance for gene CBL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CAVIN1 Louise Daugherty Mode of inheritance for gene CAVIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CAV3 Louise Daugherty Mode of inheritance for gene CAV3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CAT Louise Daugherty Mode of inheritance for gene CAT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CASR Louise Daugherty Mode of inheritance for gene CASR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CASQ2 Louise Daugherty Mode of inheritance for gene CASQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CASQ1 Louise Daugherty Mode of inheritance for gene CASQ1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CASP10 Louise Daugherty Mode of inheritance for gene CASP10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CASK Louise Daugherty Mode of inheritance for gene CASK was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CARS2 Louise Daugherty Mode of inheritance for gene CARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CARS Louise Daugherty Mode of inheritance for gene CARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CARMIL2 Louise Daugherty Mode of inheritance for gene CARMIL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CARD9 Louise Daugherty Mode of inheritance for gene CARD9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CARD14 Louise Daugherty Mode of inheritance for gene CARD14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CARD11 Louise Daugherty Mode of inheritance for gene CARD11 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CAPN3 Louise Daugherty Mode of inheritance for gene CAPN3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CAPN1 Louise Daugherty Mode of inheritance for gene CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CANT1 Louise Daugherty Mode of inheritance for gene CANT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CAMTA1 Louise Daugherty Mode of inheritance for gene CAMTA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CAMK2B Louise Daugherty Mode of inheritance for gene CAMK2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CAMK2A Louise Daugherty Mode of inheritance for gene CAMK2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CAD Louise Daugherty Mode of inheritance for gene CAD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CACNB4 Louise Daugherty Mode of inheritance for gene CACNB4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CACNA1S Louise Daugherty Mode of inheritance for gene CACNA1S was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CACNA1G Louise Daugherty Mode of inheritance for gene CACNA1G was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CACNA1F Louise Daugherty Mode of inheritance for gene CACNA1F was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CACNA1E Louise Daugherty Mode of inheritance for gene CACNA1E was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CACNA1D Louise Daugherty Mode of inheritance for gene CACNA1D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CACNA1C Louise Daugherty Mode of inheritance for gene CACNA1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CACNA1B Louise Daugherty Mode of inheritance for gene CACNA1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CACNA1A Louise Daugherty Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CA8 Louise Daugherty Mode of inheritance for gene CA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CA5A Louise Daugherty Mode of inheritance for gene CA5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CA2 Louise Daugherty Mode of inheritance for gene CA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C9orf72 Louise Daugherty Mode of inheritance for gene C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 C9 Louise Daugherty Mode of inheritance for gene C9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C8orf37 Louise Daugherty Mode of inheritance for gene C8orf37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C8G Louise Daugherty Mode of inheritance for gene C8G was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C8B Louise Daugherty Mode of inheritance for gene C8B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C8A Louise Daugherty Mode of inheritance for gene C8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C7 Louise Daugherty Mode of inheritance for gene C7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C6 Louise Daugherty Mode of inheritance for gene C6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C5 Louise Daugherty Mode of inheritance for gene C5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C4B Louise Daugherty Mode of inheritance for gene C4B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C4A Louise Daugherty Mode of inheritance for gene C4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C3 Louise Daugherty Mode of inheritance for gene C3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C2CD3 Louise Daugherty Mode of inheritance for gene C2CD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C2 Louise Daugherty Mode of inheritance for gene C2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C1S Louise Daugherty Mode of inheritance for gene C1S was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C1R Louise Daugherty Mode of inheritance for gene C1R was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 C1QC Louise Daugherty Mode of inheritance for gene C1QC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C1QBP Louise Daugherty Mode of inheritance for gene C1QBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C1QB Louise Daugherty Mode of inheritance for gene C1QB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C1QA Louise Daugherty Mode of inheritance for gene C1QA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C19orf12 Louise Daugherty Mode of inheritance for gene C19orf12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C15orf41 Louise Daugherty Mode of inheritance for gene C15orf41 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C12orf65 Louise Daugherty Mode of inheritance for gene C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C12orf57 Louise Daugherty Mode of inheritance for gene C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C12orf4 Louise Daugherty Mode of inheritance for gene C12orf4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BUB1B Louise Daugherty Mode of inheritance for gene BUB1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BTK Louise Daugherty Mode of inheritance for gene BTK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BTD Louise Daugherty Mode of inheritance for gene BTD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BSND Louise Daugherty Mode of inheritance for gene BSND was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BSCL2 Louise Daugherty Mode of inheritance for gene BSCL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BRWD3 Louise Daugherty Mode of inheritance for gene BRWD3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BRSK2 Louise Daugherty Mode of inheritance for gene BRSK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BRPF1 Louise Daugherty Mode of inheritance for gene BRPF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BRIP1 Louise Daugherty Mode of inheritance for gene BRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BRF1 Louise Daugherty Mode of inheritance for gene BRF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BRD4 Louise Daugherty Mode of inheritance for gene BRD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BRCA2 Louise Daugherty Mode of inheritance for gene BRCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BRCA1 Louise Daugherty Mode of inheritance for gene BRCA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BRAT1 Louise Daugherty Mode of inheritance for gene BRAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BRAF Louise Daugherty Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BPTF Louise Daugherty Mode of inheritance for gene BPTF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BOLA3 Louise Daugherty Mode of inheritance for gene BOLA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BNC2 Louise Daugherty Mode of inheritance for gene BNC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BMPR1B Louise Daugherty Mode of inheritance for gene BMPR1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BMPR1A Louise Daugherty Mode of inheritance for gene BMPR1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BMPER Louise Daugherty Mode of inheritance for gene BMPER was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BMP4 Louise Daugherty Mode of inheritance for gene BMP4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BMP2 Louise Daugherty Mode of inheritance for gene BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BMP1 Louise Daugherty Mode of inheritance for gene BMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BLOC1S6 Louise Daugherty Mode of inheritance for gene BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BLOC1S3 Louise Daugherty Mode of inheritance for gene BLOC1S3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BLM Louise Daugherty Mode of inheritance for gene BLM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BIN1 Louise Daugherty Mode of inheritance for gene BIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BICD2 Louise Daugherty Mode of inheritance for gene BICD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BHLHA9 Louise Daugherty Mode of inheritance for gene BHLHA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BGN Louise Daugherty Mode of inheritance for gene BGN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BFSP2 Louise Daugherty Mode of inheritance for gene BFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BEAN1 Louise Daugherty Mode of inheritance for gene BEAN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BCS1L Louise Daugherty Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BCOR Louise Daugherty Mode of inheritance for gene BCOR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 BCL11B Louise Daugherty Mode of inheritance for gene BCL11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BCL11A Louise Daugherty Mode of inheritance for gene BCL11A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BCKDK Louise Daugherty Mode of inheritance for gene BCKDK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BCKDHB Louise Daugherty Mode of inheritance for gene BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BCKDHA Louise Daugherty Mode of inheritance for gene BCKDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BCAP31 Louise Daugherty Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 BBS9 Louise Daugherty Mode of inheritance for gene BBS9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BBS7 Louise Daugherty Mode of inheritance for gene BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BBS5 Louise Daugherty Mode of inheritance for gene BBS5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BBS4 Louise Daugherty Mode of inheritance for gene BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BBS2 Louise Daugherty Mode of inheritance for gene BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BBS12 Louise Daugherty Mode of inheritance for gene BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BBS10 Louise Daugherty Mode of inheritance for gene BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BBS1 Louise Daugherty Mode of inheritance for gene BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BAG3 Louise Daugherty Mode of inheritance for gene BAG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BACH2 Louise Daugherty Mode of inheritance for gene BACH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 BAAT Louise Daugherty Mode of inheritance for gene BAAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B9D2 Louise Daugherty Mode of inheritance for gene B9D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B4GAT1 Louise Daugherty Mode of inheritance for gene B4GAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B4GALT7 Louise Daugherty Mode of inheritance for gene B4GALT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B4GALT1 Louise Daugherty Mode of inheritance for gene B4GALT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B4GALNT1 Louise Daugherty Mode of inheritance for gene B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B3GLCT Louise Daugherty Mode of inheritance for gene B3GLCT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B3GAT3 Louise Daugherty Mode of inheritance for gene B3GAT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B3GALT6 Louise Daugherty Mode of inheritance for gene B3GALT6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B3GALNT2 Louise Daugherty Mode of inheritance for gene B3GALNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 B2M Louise Daugherty Mode of inheritance for gene B2M was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AVPR2 Louise Daugherty Mode of inheritance for gene AVPR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AUTS2 Louise Daugherty Mode of inheritance for gene AUTS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AUH Louise Daugherty Mode of inheritance for gene AUH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATXN7 Louise Daugherty Mode of inheritance for gene ATXN7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATXN3 Louise Daugherty Mode of inheritance for gene ATXN3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATXN2 Louise Daugherty Mode of inheritance for gene ATXN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATXN10 Louise Daugherty Mode of inheritance for gene ATXN10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATXN1 Louise Daugherty Mode of inheritance for gene ATXN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATRX Louise Daugherty Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ATR Louise Daugherty Mode of inheritance for gene ATR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP8B1 Louise Daugherty Mode of inheritance for gene ATP8B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP7B Louise Daugherty Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP7A Louise Daugherty Mode of inheritance for gene ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ATP6V1B2 Louise Daugherty Mode of inheritance for gene ATP6V1B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATP6V1B1 Louise Daugherty Mode of inheritance for gene ATP6V1B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP6V1A Louise Daugherty Mode of inheritance for gene ATP6V1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP6V0A2 Louise Daugherty Mode of inheritance for gene ATP6V0A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP6AP2 Louise Daugherty Mode of inheritance for gene ATP6AP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ATP6AP1 Louise Daugherty Mode of inheritance for gene ATP6AP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ATP5D Louise Daugherty Mode of inheritance for gene ATP5D was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP2A1 Louise Daugherty Mode of inheritance for gene ATP2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATP1A3 Louise Daugherty Mode of inheritance for gene ATP1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATP1A2 Louise Daugherty Mode of inheritance for gene ATP1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATP1A1 Louise Daugherty Mode of inheritance for gene ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATP13A2 Louise Daugherty Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATN1 Louise Daugherty Mode of inheritance for gene ATN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATM Louise Daugherty Mode of inheritance for gene ATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATL1 Louise Daugherty Mode of inheritance for gene ATL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ATIC Louise Daugherty Mode of inheritance for gene ATIC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATCAY Louise Daugherty Mode of inheritance for gene ATCAY was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATAD3A Louise Daugherty Mode of inheritance for gene ATAD3A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ATAD1 Louise Daugherty Mode of inheritance for gene ATAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ASXL3 Louise Daugherty Mode of inheritance for gene ASXL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ASXL2 Louise Daugherty Mode of inheritance for gene ASXL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ASXL1 Louise Daugherty Mode of inheritance for gene ASXL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ASS1 Louise Daugherty Mode of inheritance for gene ASS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ASPM Louise Daugherty Mode of inheritance for gene ASPM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ASPA Louise Daugherty Mode of inheritance for gene ASPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ASNS Louise Daugherty Mode of inheritance for gene ASNS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ASL Louise Daugherty Mode of inheritance for gene ASL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ASH1L Louise Daugherty Mode of inheritance for gene ASH1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ASCC1 Louise Daugherty Mode of inheritance for gene ASCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ASAH1 Louise Daugherty Mode of inheritance for gene ASAH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARX Louise Daugherty Mode of inheritance for gene ARX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ARV1 Louise Daugherty Mode of inheritance for gene ARV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARSE Louise Daugherty Mode of inheritance for gene ARSE was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ARSB Louise Daugherty Mode of inheritance for gene ARSB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARSA Louise Daugherty Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARPC1B Louise Daugherty Mode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARMC9 Louise Daugherty Mode of inheritance for gene ARMC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARMC4 Louise Daugherty Mode of inheritance for gene ARMC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARL6 Louise Daugherty Mode of inheritance for gene ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARL13B Louise Daugherty Mode of inheritance for gene ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARID2 Louise Daugherty Mode of inheritance for gene ARID2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ARID1B Louise Daugherty Mode of inheritance for gene ARID1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ARID1A Louise Daugherty Mode of inheritance for gene ARID1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ARHGEF9 Louise Daugherty Mode of inheritance for gene ARHGEF9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ARHGDIA Louise Daugherty Mode of inheritance for gene ARHGDIA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARHGAP31 Louise Daugherty Mode of inheritance for gene ARHGAP31 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ARG1 Louise Daugherty Mode of inheritance for gene ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARFGEF2 Louise Daugherty Mode of inheritance for gene ARFGEF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARCN1 Louise Daugherty Mode of inheritance for gene ARCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AR Louise Daugherty Mode of inheritance for gene AR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 APTX Louise Daugherty Mode of inheritance for gene APTX was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 APRT Louise Daugherty Mode of inheritance for gene APRT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 APOE Louise Daugherty Mode of inheritance for gene APOE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 APOC2 Louise Daugherty Mode of inheritance for gene APOC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 APOB Louise Daugherty Mode of inheritance for gene APOB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 APOA5 Louise Daugherty Mode of inheritance for gene APOA5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 APOA1 Louise Daugherty Mode of inheritance for gene APOA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 APC Louise Daugherty Mode of inheritance for gene APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AP5Z1 Louise Daugherty Mode of inheritance for gene AP5Z1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP4S1 Louise Daugherty Mode of inheritance for gene AP4S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP4M1 Louise Daugherty Mode of inheritance for gene AP4M1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP4E1 Louise Daugherty Mode of inheritance for gene AP4E1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP4B1 Louise Daugherty Mode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP3D1 Louise Daugherty Mode of inheritance for gene AP3D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP3B2 Louise Daugherty Mode of inheritance for gene AP3B2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP3B1 Louise Daugherty Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AP2M1 Louise Daugherty Mode of inheritance for gene AP2M1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AP1S2 Louise Daugherty Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AP1S1 Louise Daugherty Mode of inheritance for gene AP1S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ANTXR2 Louise Daugherty Mode of inheritance for gene ANTXR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ANTXR1 Louise Daugherty Mode of inheritance for gene ANTXR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ANOS1 Louise Daugherty Mode of inheritance for gene ANOS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ANO6 Louise Daugherty Mode of inheritance for gene ANO6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ANO5 Louise Daugherty Mode of inheritance for gene ANO5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ANO3 Louise Daugherty Mode of inheritance for gene ANO3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ANO10 Louise Daugherty Mode of inheritance for gene ANO10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ANKS6 Louise Daugherty Mode of inheritance for gene ANKS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ANKRD26 Louise Daugherty Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ANKRD11 Louise Daugherty Mode of inheritance for gene ANKRD11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ANKH Louise Daugherty Mode of inheritance for gene ANKH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ANK1 Louise Daugherty Mode of inheritance for gene ANK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AMT Louise Daugherty Mode of inheritance for gene AMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AMPD2 Louise Daugherty Mode of inheritance for gene AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AMN Louise Daugherty Mode of inheritance for gene AMN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AMMECR1 Louise Daugherty Mode of inheritance for gene AMMECR1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AMER1 Louise Daugherty Mode of inheritance for gene AMER1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 AMELX Louise Daugherty Mode of inheritance for gene AMELX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 AMACR Louise Daugherty Mode of inheritance for gene AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALX4 Louise Daugherty Mode of inheritance for gene ALX4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALX3 Louise Daugherty Mode of inheritance for gene ALX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALX1 Louise Daugherty Mode of inheritance for gene ALX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALS2 Louise Daugherty Mode of inheritance for gene ALS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALPL Louise Daugherty Mode of inheritance for gene ALPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALOXE3 Louise Daugherty Mode of inheritance for gene ALOXE3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALOX12B Louise Daugherty Mode of inheritance for gene ALOX12B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALMS1 Louise Daugherty Mode of inheritance for gene ALMS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALKBH8 Louise Daugherty Mode of inheritance for gene ALKBH8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALG9 Louise Daugherty Mode of inheritance for gene ALG9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALG8 Louise Daugherty Mode of inheritance for gene ALG8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALG6 Louise Daugherty Mode of inheritance for gene ALG6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALG3 Louise Daugherty Mode of inheritance for gene ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALG13 Louise Daugherty Mode of inheritance for gene ALG13 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ALG12 Louise Daugherty Mode of inheritance for gene ALG12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALG11 Louise Daugherty Mode of inheritance for gene ALG11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALG1 Louise Daugherty Mode of inheritance for gene ALG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDOB Louise Daugherty Mode of inheritance for gene ALDOB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDOA Louise Daugherty Mode of inheritance for gene ALDOA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDH7A1 Louise Daugherty Mode of inheritance for gene ALDH7A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDH6A1 Louise Daugherty Mode of inheritance for gene ALDH6A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDH5A1 Louise Daugherty Mode of inheritance for gene ALDH5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDH4A1 Louise Daugherty Mode of inheritance for gene ALDH4A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDH3A2 Louise Daugherty Mode of inheritance for gene ALDH3A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDH1A3 Louise Daugherty Mode of inheritance for gene ALDH1A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALDH18A1 Louise Daugherty Mode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ALB Louise Daugherty Mode of inheritance for gene ALB was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ALAS2 Louise Daugherty Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ALAD Louise Daugherty Mode of inheritance for gene ALAD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AKT3 Louise Daugherty Mode of inheritance for gene AKT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AKT1 Louise Daugherty Mode of inheritance for gene AKT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AKR1D1 Louise Daugherty Mode of inheritance for gene AKR1D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AK2 Louise Daugherty Mode of inheritance for gene AK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AK1 Louise Daugherty Mode of inheritance for gene AK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AIRE Louise Daugherty Mode of inheritance for gene AIRE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AIPL1 Louise Daugherty Mode of inheritance for gene AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AIMP1 Louise Daugherty Mode of inheritance for gene AIMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AIFM1 Louise Daugherty Mode of inheritance for gene AIFM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 AICDA Louise Daugherty Mode of inheritance for gene AICDA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AHI1 Louise Daugherty Mode of inheritance for gene AHI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AHDC1 Louise Daugherty Mode of inheritance for gene AHDC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AGXT Louise Daugherty Mode of inheritance for gene AGXT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGTR1 Louise Daugherty Mode of inheritance for gene AGTR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGT Louise Daugherty Mode of inheritance for gene AGT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGRN Louise Daugherty Mode of inheritance for gene AGRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGPS Louise Daugherty Mode of inheritance for gene AGPS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGL Louise Daugherty Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGK Louise Daugherty Mode of inheritance for gene AGK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGA Louise Daugherty Mode of inheritance for gene AGA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AFG3L2 Louise Daugherty Mode of inheritance for gene AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AFF4 Louise Daugherty Mode of inheritance for gene AFF4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 AFF2 Louise Daugherty Mode of inheritance for gene AFF2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ADSL Louise Daugherty Mode of inheritance for gene ADSL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADPRHL2 Louise Daugherty Mode of inheritance for gene ADPRHL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADNP Louise Daugherty Mode of inheritance for gene ADNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ADK Louise Daugherty Mode of inheritance for gene ADK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADGRV1 Louise Daugherty Mode of inheritance for gene ADGRV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADGRG6 Louise Daugherty Mode of inheritance for gene ADGRG6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADGRG1 Louise Daugherty Mode of inheritance for gene ADGRG1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADD3 Louise Daugherty Mode of inheritance for gene ADD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADCY5 Louise Daugherty Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ADAT3 Louise Daugherty Mode of inheritance for gene ADAT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAR Louise Daugherty Mode of inheritance for gene ADAR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTSL2 Louise Daugherty Mode of inheritance for gene ADAMTSL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTS17 Louise Daugherty Mode of inheritance for gene ADAMTS17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTS13 Louise Daugherty Mode of inheritance for gene ADAMTS13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADAMTS10 Louise Daugherty Mode of inheritance for gene ADAMTS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADA2 Louise Daugherty Mode of inheritance for gene ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ADA Louise Daugherty Mode of inheritance for gene ADA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACY1 Louise Daugherty Mode of inheritance for gene ACY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACVRL1 Louise Daugherty Mode of inheritance for gene ACVRL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACVR2B Louise Daugherty Mode of inheritance for gene ACVR2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACVR1 Louise Daugherty Mode of inheritance for gene ACVR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTN4 Louise Daugherty Mode of inheritance for gene ACTN4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTN1 Louise Daugherty Mode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTL6B Louise Daugherty Mode of inheritance for gene ACTL6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACTG2 Louise Daugherty Mode of inheritance for gene ACTG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTG1 Louise Daugherty Mode of inheritance for gene ACTG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTC1 Louise Daugherty Mode of inheritance for gene ACTC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTB Louise Daugherty Mode of inheritance for gene ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTA2 Louise Daugherty Mode of inheritance for gene ACTA2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACTA1 Louise Daugherty Mode of inheritance for gene ACTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACSL4 Louise Daugherty Mode of inheritance for gene ACSL4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ACSF3 Louise Daugherty Mode of inheritance for gene ACSF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACP5 Louise Daugherty Mode of inheritance for gene ACP5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACOX1 Louise Daugherty Mode of inheritance for gene ACOX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACO2 Louise Daugherty Mode of inheritance for gene ACO2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACE Louise Daugherty Mode of inheritance for gene ACE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACAT1 Louise Daugherty Mode of inheritance for gene ACAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACAN Louise Daugherty Mode of inheritance for gene ACAN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACADVL Louise Daugherty Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACADSB Louise Daugherty Mode of inheritance for gene ACADSB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACADS Louise Daugherty Mode of inheritance for gene ACADS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACADM Louise Daugherty Mode of inheritance for gene ACADM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACAD9 Louise Daugherty Mode of inheritance for gene ACAD9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACAD8 Louise Daugherty Mode of inheritance for gene ACAD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABL1 Louise Daugherty Mode of inheritance for gene ABL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ABHD5 Louise Daugherty Mode of inheritance for gene ABHD5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABHD12 Louise Daugherty Mode of inheritance for gene ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCG8 Louise Daugherty Mode of inheritance for gene ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCG5 Louise Daugherty Mode of inheritance for gene ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCD4 Louise Daugherty Mode of inheritance for gene ABCD4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCD1 Louise Daugherty Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ABCC9 Louise Daugherty Mode of inheritance for gene ABCC9 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCC8 Louise Daugherty Mode of inheritance for gene ABCC8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCC6 Louise Daugherty Mode of inheritance for gene ABCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCC2 Louise Daugherty Mode of inheritance for gene ABCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCB7 Louise Daugherty Mode of inheritance for gene ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 ABCB4 Louise Daugherty Mode of inheritance for gene ABCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCB11 Louise Daugherty Mode of inheritance for gene ABCB11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCA4 Louise Daugherty Mode of inheritance for gene ABCA4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCA3 Louise Daugherty Mode of inheritance for gene ABCA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCA12 Louise Daugherty Mode of inheritance for gene ABCA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCA1 Louise Daugherty Mode of inheritance for gene ABCA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABAT Louise Daugherty Mode of inheritance for gene ABAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AASS Louise Daugherty Mode of inheritance for gene AASS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AARS2 Louise Daugherty Mode of inheritance for gene AARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AARS Louise Daugherty Mode of inheritance for gene AARS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AAAS Louise Daugherty Mode of inheritance for gene AAAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.16 MID1 Louise Daugherty Mode of inheritance for gene: MID1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.15 MKKS Louise Daugherty Mode of inheritance for gene: MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.14 MITF Louise Daugherty Mode of inheritance for gene: MITF was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.13 MIPEP Louise Daugherty Mode of inheritance for gene: MIPEP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 WASF1 Louise Daugherty reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 WAS Louise Daugherty reviewed gene: WAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 WASHC5 Louise Daugherty Publications for gene WASHC5 were updated from to 30847515
Severe Paediatric Disorders v0.11 WASF1 Louise Daugherty Publications for gene WASF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 WAS Louise Daugherty Publications for gene WAS were updated from to 30847515
Severe Paediatric Disorders v0.11 RRM2B Louise Daugherty Mode of inheritance for gene RRM2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RPSA Louise Daugherty Mode of inheritance for gene RPSA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPS7 Louise Daugherty Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPS6KA3 Louise Daugherty Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 RPS26 Louise Daugherty Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPS24 Louise Daugherty Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPS19 Louise Daugherty Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPS17 Louise Daugherty Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPS10 Louise Daugherty Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPL5 Louise Daugherty Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPL35A Louise Daugherty Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPL11 Louise Daugherty Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RPL10 Louise Daugherty Mode of inheritance for gene RPL10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 RPIA Louise Daugherty Mode of inheritance for gene RPIA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RPGRIP1L Louise Daugherty Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RPGRIP1 Louise Daugherty Mode of inheritance for gene RPGRIP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RPGR Louise Daugherty Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 RPE65 Louise Daugherty Mode of inheritance for gene RPE65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RORC Louise Daugherty Mode of inheritance for gene RORC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RORB Louise Daugherty Mode of inheritance for gene RORB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RORA Louise Daugherty Mode of inheritance for gene RORA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 ROR2 Louise Daugherty Mode of inheritance for gene ROR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ROGDI Louise Daugherty Mode of inheritance for gene ROGDI was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ROBO3 Louise Daugherty Mode of inheritance for gene ROBO3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ROBO1 Louise Daugherty Mode of inheritance for gene ROBO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RNU4ATAC Louise Daugherty Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNF216 Louise Daugherty Mode of inheritance for gene RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNF170 Louise Daugherty Mode of inheritance for gene RNF170 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RNF168 Louise Daugherty Mode of inheritance for gene RNF168 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNF125 Louise Daugherty Mode of inheritance for gene RNF125 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RNASET2 Louise Daugherty Mode of inheritance for gene RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNASEH2C Louise Daugherty Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNASEH2B Louise Daugherty Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNASEH2A Louise Daugherty Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNASEH1 Louise Daugherty Mode of inheritance for gene RNASEH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RMRP Louise Daugherty Mode of inheritance for gene RMRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RMND1 Louise Daugherty Mode of inheritance for gene RMND1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RLIM Louise Daugherty Mode of inheritance for gene RLIM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 RIT1 Louise Daugherty Mode of inheritance for gene RIT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RIPK4 Louise Daugherty Mode of inheritance for gene RIPK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RIPK1 Louise Daugherty Mode of inheritance for gene RIPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RHOBTB2 Louise Daugherty Mode of inheritance for gene RHOBTB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RHAG Louise Daugherty Mode of inheritance for gene RHAG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RFXAP Louise Daugherty Mode of inheritance for gene RFXAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RFXANK Louise Daugherty Mode of inheritance for gene RFXANK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RFX6 Louise Daugherty Mode of inheritance for gene RFX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RFX5 Louise Daugherty Mode of inheritance for gene RFX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RFT1 Louise Daugherty Mode of inheritance for gene RFT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RETREG1 Louise Daugherty Mode of inheritance for gene RETREG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RET Louise Daugherty Mode of inheritance for gene RET was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RERE Louise Daugherty Mode of inheritance for gene RERE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 REN Louise Daugherty Mode of inheritance for gene REN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RELN Louise Daugherty Mode of inheritance for gene RELN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 REEP1 Louise Daugherty Mode of inheritance for gene REEP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RECQL4 Louise Daugherty Mode of inheritance for gene RECQL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RBPJ Louise Daugherty Mode of inheritance for gene RBPJ was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RBM8A Louise Daugherty Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RBM10 Louise Daugherty Mode of inheritance for gene RBM10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 RBCK1 Louise Daugherty Mode of inheritance for gene RBCK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RBBP8 Louise Daugherty Mode of inheritance for gene RBBP8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAX Louise Daugherty Mode of inheritance for gene RAX was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RASGRP2 Louise Daugherty Mode of inheritance for gene RASGRP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RASGRP1 Louise Daugherty Mode of inheritance for gene RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RASA1 Louise Daugherty Mode of inheritance for gene RASA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RARS2 Louise Daugherty Mode of inheritance for gene RARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RARS Louise Daugherty Mode of inheritance for gene RARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RARB Louise Daugherty Mode of inheritance for gene RARB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAPSN Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RALA Louise Daugherty Mode of inheritance for gene RALA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RAI1 Louise Daugherty Mode of inheritance for gene RAI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RAG2 Louise Daugherty Mode of inheritance for gene RAG2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAG1 Louise Daugherty Mode of inheritance for gene RAG1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAF1 Louise Daugherty Mode of inheritance for gene RAF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAD21 Louise Daugherty Mode of inheritance for gene RAD21 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAC3 Louise Daugherty Mode of inheritance for gene RAC3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RAC2 Louise Daugherty Mode of inheritance for gene RAC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RAC1 Louise Daugherty Mode of inheritance for gene RAC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RAB7A Louise Daugherty Mode of inheritance for gene RAB7A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RAB3GAP2 Louise Daugherty Mode of inheritance for gene RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAB3GAP1 Louise Daugherty Mode of inheritance for gene RAB3GAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAB39B Louise Daugherty Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 RAB33B Louise Daugherty Mode of inheritance for gene RAB33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAB27A Louise Daugherty Mode of inheritance for gene RAB27A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAB23 Louise Daugherty Mode of inheritance for gene RAB23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAB18 Louise Daugherty Mode of inheritance for gene RAB18 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RAB11B Louise Daugherty Mode of inheritance for gene RAB11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 QRSL1 Louise Daugherty Mode of inheritance for gene QRSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 QRICH1 Louise Daugherty Mode of inheritance for gene QRICH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 QDPR Louise Daugherty Mode of inheritance for gene QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 QARS Louise Daugherty Mode of inheritance for gene QARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PYGM Louise Daugherty Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PYGL Louise Daugherty Mode of inheritance for gene PYGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PYCR2 Louise Daugherty Mode of inheritance for gene PYCR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PYCR1 Louise Daugherty Mode of inheritance for gene PYCR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PUS7 Louise Daugherty Mode of inheritance for gene PUS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PUS3 Louise Daugherty Mode of inheritance for gene PUS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PUS1 Louise Daugherty Mode of inheritance for gene PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PURA Louise Daugherty Mode of inheritance for gene PURA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PUM1 Louise Daugherty Mode of inheritance for gene PUM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PUF60 Louise Daugherty Mode of inheritance for gene PUF60 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PTS Louise Daugherty Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PTPRC Louise Daugherty Mode of inheritance for gene PTPRC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PTPN23 Louise Daugherty Mode of inheritance for gene PTPN23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PTPN11 Louise Daugherty Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PTHLH Louise Daugherty Mode of inheritance for gene PTHLH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PTH1R Louise Daugherty Mode of inheritance for gene PTH1R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PTF1A Louise Daugherty Mode of inheritance for gene PTF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PTEN Louise Daugherty Mode of inheritance for gene PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PTDSS1 Louise Daugherty Mode of inheritance for gene PTDSS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PTCH1 Louise Daugherty Mode of inheritance for gene PTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PSTPIP1 Louise Daugherty Mode of inheritance for gene PSTPIP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PSPH Louise Daugherty Mode of inheritance for gene PSPH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PSMD12 Louise Daugherty Mode of inheritance for gene PSMD12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PSMB8 Louise Daugherty Mode of inheritance for gene PSMB8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PSEN1 Louise Daugherty Mode of inheritance for gene PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PSAT1 Louise Daugherty Mode of inheritance for gene PSAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PSAP Louise Daugherty Mode of inheritance for gene PSAP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRX Louise Daugherty Mode of inheritance for gene PRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRUNE1 Louise Daugherty Mode of inheritance for gene PRUNE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRSS56 Louise Daugherty Mode of inheritance for gene PRSS56 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRSS12 Louise Daugherty Mode of inheritance for gene PRSS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRRT2 Louise Daugherty Mode of inheritance for gene PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRR12 Louise Daugherty Mode of inheritance for gene PRR12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRPS1 Louise Daugherty Mode of inheritance for gene PRPS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PROS1 Louise Daugherty Mode of inheritance for gene PROS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PROP1 Louise Daugherty Mode of inheritance for gene PROP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PROKR2 Louise Daugherty Mode of inheritance for gene PROKR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRODH Louise Daugherty Mode of inheritance for gene PRODH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PROC Louise Daugherty Mode of inheritance for gene PROC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRNP Louise Daugherty Mode of inheritance for gene PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRMT7 Louise Daugherty Mode of inheritance for gene PRMT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRKRA Louise Daugherty Mode of inheritance for gene PRKRA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRKN Louise Daugherty Mode of inheritance for gene PRKN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRKDC Louise Daugherty Mode of inheritance for gene PRKDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRKD1 Louise Daugherty Mode of inheritance for gene PRKD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRKCG Louise Daugherty Mode of inheritance for gene PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRKCD Louise Daugherty Mode of inheritance for gene PRKCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRKAR1A Louise Daugherty Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRKAG2 Louise Daugherty Mode of inheritance for gene PRKAG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PRICKLE1 Louise Daugherty Mode of inheritance for gene PRICKLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRG4 Louise Daugherty Mode of inheritance for gene PRG4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRF1 Louise Daugherty Mode of inheritance for gene PRF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PRDM12 Louise Daugherty Mode of inheritance for gene PRDM12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PQBP1 Louise Daugherty Mode of inheritance for gene PQBP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PPT1 Louise Daugherty Mode of inheritance for gene PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PPP3CA Louise Daugherty Mode of inheritance for gene PPP3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPP2R5D Louise Daugherty Mode of inheritance for gene PPP2R5D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPP2R2B Louise Daugherty Mode of inheritance for gene PPP2R2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPP2R1A Louise Daugherty Mode of inheritance for gene PPP2R1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPP2CA Louise Daugherty Mode of inheritance for gene PPP2CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPP1R21 Louise Daugherty Mode of inheritance for gene PPP1R21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PPP1R15B Louise Daugherty Mode of inheritance for gene PPP1R15B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PPP1CB Louise Daugherty Mode of inheritance for gene PPP1CB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPOX Louise Daugherty Mode of inheritance for gene PPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPM1D Louise Daugherty Mode of inheritance for gene PPM1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PPIB Louise Daugherty Mode of inheritance for gene PPIB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PPA2 Louise Daugherty Mode of inheritance for gene PPA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POU4F3 Louise Daugherty Mode of inheritance for gene POU4F3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 POU3F4 Louise Daugherty Mode of inheritance for gene POU3F4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 POU3F3 Louise Daugherty Mode of inheritance for gene POU3F3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 POU1F1 Louise Daugherty Mode of inheritance for gene POU1F1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PORCN Louise Daugherty Mode of inheritance for gene PORCN was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 POR Louise Daugherty Mode of inheritance for gene POR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POP1 Louise Daugherty Mode of inheritance for gene POP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POMT2 Louise Daugherty Mode of inheritance for gene POMT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POMT1 Louise Daugherty Mode of inheritance for gene POMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POMK Louise Daugherty Mode of inheritance for gene POMK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POMGNT2 Louise Daugherty Mode of inheritance for gene POMGNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POMGNT1 Louise Daugherty Mode of inheritance for gene POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLR3B Louise Daugherty Mode of inheritance for gene POLR3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLR3A Louise Daugherty Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLR2A Louise Daugherty Mode of inheritance for gene POLR2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 POLR1D Louise Daugherty Mode of inheritance for gene POLR1D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLR1C Louise Daugherty Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLR1A Louise Daugherty Mode of inheritance for gene POLR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 POLH Louise Daugherty Mode of inheritance for gene POLH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLG2 Louise Daugherty Mode of inheritance for gene POLG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLG Louise Daugherty Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLE Louise Daugherty Mode of inheritance for gene POLE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POLD1 Louise Daugherty Mode of inheritance for gene POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 POLA1 Louise Daugherty Mode of inheritance for gene POLA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 POGZ Louise Daugherty Mode of inheritance for gene POGZ was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 POC1B Louise Daugherty Mode of inheritance for gene POC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 POC1A Louise Daugherty Mode of inheritance for gene POC1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNPT1 Louise Daugherty Mode of inheritance for gene PNPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNPO Louise Daugherty Mode of inheritance for gene PNPO was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNPLA6 Louise Daugherty Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNP Louise Daugherty Mode of inheritance for gene PNP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNKP Louise Daugherty Mode of inheritance for gene PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNKD Louise Daugherty Mode of inheritance for gene PNKD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PMPCB Louise Daugherty Mode of inheritance for gene PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PMPCA Louise Daugherty Mode of inheritance for gene PMPCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PMP22 Louise Daugherty Mode of inheritance for gene PMP22 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PMM2 Louise Daugherty Mode of inheritance for gene PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLS3 Louise Daugherty Mode of inheritance for gene PLS3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PLPBP Louise Daugherty Mode of inheritance for gene PLPBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLP1 Louise Daugherty Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PLOD2 Louise Daugherty Mode of inheritance for gene PLOD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLOD1 Louise Daugherty Mode of inheritance for gene PLOD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLK4 Louise Daugherty Mode of inheritance for gene PLK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLG Louise Daugherty Mode of inheritance for gene PLG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLEC Louise Daugherty Mode of inheritance for gene PLEC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLCG2 Louise Daugherty Mode of inheritance for gene PLCG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PLCE1 Louise Daugherty Mode of inheritance for gene PLCE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLCB1 Louise Daugherty Mode of inheritance for gene PLCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLAU Louise Daugherty Mode of inheritance for gene PLAU was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PLAA Louise Daugherty Mode of inheritance for gene PLAA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLA2G6 Louise Daugherty Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PLA2G4A Louise Daugherty Mode of inheritance for gene PLA2G4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PKLR Louise Daugherty Mode of inheritance for gene PKLR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PKHD1 Louise Daugherty Mode of inheritance for gene PKHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PKD2 Louise Daugherty Mode of inheritance for gene PKD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PKD1L1 Louise Daugherty Mode of inheritance for gene PKD1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PKD1 Louise Daugherty Mode of inheritance for gene PKD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 DFNB59 Louise Daugherty Mode of inheritance for gene DFNB59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PITX3 Louise Daugherty Mode of inheritance for gene PITX3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PITX2 Louise Daugherty Mode of inheritance for gene PITX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PITX1 Louise Daugherty Mode of inheritance for gene PITX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PITRM1 Louise Daugherty Mode of inheritance for gene PITRM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PINK1 Louise Daugherty Mode of inheritance for gene PINK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIK3R2 Louise Daugherty Mode of inheritance for gene PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PIK3R1 Louise Daugherty Mode of inheritance for gene PIK3R1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIK3CD Louise Daugherty Mode of inheritance for gene PIK3CD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PIK3CA Louise Daugherty Mode of inheritance for gene PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PIGW Louise Daugherty Mode of inheritance for gene PIGW was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGV Louise Daugherty Mode of inheritance for gene PIGV was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGU Louise Daugherty Mode of inheritance for gene PIGU was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGT Louise Daugherty Mode of inheritance for gene PIGT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGQ Louise Daugherty Mode of inheritance for gene PIGQ was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGO Louise Daugherty Mode of inheritance for gene PIGO was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGN Louise Daugherty Mode of inheritance for gene PIGN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGL Louise Daugherty Mode of inheritance for gene PIGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGH Louise Daugherty Mode of inheritance for gene PIGH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGG Louise Daugherty Mode of inheritance for gene PIGG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGC Louise Daugherty Mode of inheritance for gene PIGC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGB Louise Daugherty Mode of inheritance for gene PIGB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIGA Louise Daugherty Mode of inheritance for gene PIGA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PIEZO2 Louise Daugherty Mode of inheritance for gene PIEZO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PIEZO1 Louise Daugherty Mode of inheritance for gene PIEZO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHYH Louise Daugherty Mode of inheritance for gene PHYH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHOX2B Louise Daugherty Mode of inheritance for gene PHOX2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHKG2 Louise Daugherty Mode of inheritance for gene PHKG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHKB Louise Daugherty Mode of inheritance for gene PHKB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHKA2 Louise Daugherty Mode of inheritance for gene PHKA2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHKA1 Louise Daugherty Mode of inheritance for gene PHKA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHIP Louise Daugherty Mode of inheritance for gene PHIP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PHGDH Louise Daugherty Mode of inheritance for gene PHGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHF8 Louise Daugherty Mode of inheritance for gene PHF8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHF6 Louise Daugherty Mode of inheritance for gene PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PHF21A Louise Daugherty Mode of inheritance for gene PHF21A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PHEX Louise Daugherty Mode of inheritance for gene PHEX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PHACTR1 Louise Daugherty Mode of inheritance for gene PHACTR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PGM3 Louise Daugherty Mode of inheritance for gene PGM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PGM1 Louise Daugherty Mode of inheritance for gene PGM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PGK1 Louise Daugherty Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PGAP3 Louise Daugherty Mode of inheritance for gene PGAP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PGAP2 Louise Daugherty Mode of inheritance for gene PGAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PGAP1 Louise Daugherty Mode of inheritance for gene PGAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PGAM2 Louise Daugherty Mode of inheritance for gene PGAM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PFKM Louise Daugherty Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX7 Louise Daugherty Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX6 Louise Daugherty Mode of inheritance for gene PEX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX5 Louise Daugherty Mode of inheritance for gene PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX3 Louise Daugherty Mode of inheritance for gene PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX26 Louise Daugherty Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX2 Louise Daugherty Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX19 Louise Daugherty Mode of inheritance for gene PEX19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX16 Louise Daugherty Mode of inheritance for gene PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX14 Louise Daugherty Mode of inheritance for gene PEX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX13 Louise Daugherty Mode of inheritance for gene PEX13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX12 Louise Daugherty Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX10 Louise Daugherty Mode of inheritance for gene PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEX1 Louise Daugherty Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PET100 Louise Daugherty Mode of inheritance for gene PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PEPD Louise Daugherty Mode of inheritance for gene PEPD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDYN Louise Daugherty Mode of inheritance for gene PDYN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PDSS2 Louise Daugherty Mode of inheritance for gene PDSS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDSS1 Louise Daugherty Mode of inheritance for gene PDSS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDP1 Louise Daugherty Mode of inheritance for gene PDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDHX Louise Daugherty Mode of inheritance for gene PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDHB Louise Daugherty Mode of inheritance for gene PDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDHA1 Louise Daugherty Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PDGFRB Louise Daugherty Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PDGFB Louise Daugherty Mode of inheritance for gene PDGFB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDE6G Louise Daugherty Mode of inheritance for gene PDE6G was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDE4D Louise Daugherty Mode of inheritance for gene PDE4D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PDE3A Louise Daugherty Mode of inheritance for gene PDE3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PDE10A Louise Daugherty Mode of inheritance for gene PDE10A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PDCD10 Louise Daugherty Mode of inheritance for gene PDCD10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PCYT1A Louise Daugherty Mode of inheritance for gene PCYT1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PCSK9 Louise Daugherty Mode of inheritance for gene PCSK9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PCNT Louise Daugherty Mode of inheritance for gene PCNT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PCGF2 Louise Daugherty Mode of inheritance for gene PCGF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PCDH19 Louise Daugherty Mode of inheritance for gene PCDH19 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PCDH15 Louise Daugherty Mode of inheritance for gene PCDH15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PCDH12 Louise Daugherty Mode of inheritance for gene PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PCCB Louise Daugherty Mode of inheritance for gene PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PCCA Louise Daugherty Mode of inheritance for gene PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PCBD1 Louise Daugherty Mode of inheritance for gene PCBD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 C2orf71 Louise Daugherty Mode of inheritance for gene C2orf71 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PC Louise Daugherty Mode of inheritance for gene PC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PBX1 Louise Daugherty Mode of inheritance for gene PBX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PAX9 Louise Daugherty Mode of inheritance for gene PAX9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PAX8 Louise Daugherty Mode of inheritance for gene PAX8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PAX6 Louise Daugherty Mode of inheritance for gene PAX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PAX3 Louise Daugherty Mode of inheritance for gene PAX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PAX2 Louise Daugherty Mode of inheritance for gene PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PARS2 Louise Daugherty Mode of inheritance for gene PARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PARN Louise Daugherty Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PARK7 Louise Daugherty Mode of inheritance for gene PARK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PAPSS2 Louise Daugherty Mode of inheritance for gene PAPSS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PAPPA2 Louise Daugherty Mode of inheritance for gene PAPPA2 was changed from to MITOCHONDRIAL
Severe Paediatric Disorders v0.11 PANK2 Louise Daugherty Mode of inheritance for gene PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PALB2 Louise Daugherty Mode of inheritance for gene PALB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PAK3 Louise Daugherty Mode of inheritance for gene PAK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 PAH Louise Daugherty Mode of inheritance for gene PAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PAFAH1B1 Louise Daugherty Mode of inheritance for gene PAFAH1B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PACS2 Louise Daugherty Mode of inheritance for gene PACS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PACS1 Louise Daugherty Mode of inheritance for gene PACS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 P4HTM Louise Daugherty Mode of inheritance for gene P4HTM was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 P3H1 Louise Daugherty Mode of inheritance for gene P3H1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 P2RY12 Louise Daugherty Mode of inheritance for gene P2RY12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OXCT1 Louise Daugherty Mode of inheritance for gene OXCT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OTX2 Louise Daugherty Mode of inheritance for gene OTX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 OTULIN Louise Daugherty Mode of inheritance for gene OTULIN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OTUD6B Louise Daugherty Mode of inheritance for gene OTUD6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OTOGL Louise Daugherty Mode of inheritance for gene OTOGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OTOF Louise Daugherty Mode of inheritance for gene OTOF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OTOA Louise Daugherty Mode of inheritance for gene OTOA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OTC Louise Daugherty Mode of inheritance for gene OTC was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OSTM1 Louise Daugherty Mode of inheritance for gene OSTM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OSMR Louise Daugherty Mode of inheritance for gene OSMR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 OSGEP Louise Daugherty Mode of inheritance for gene OSGEP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ORC6 Louise Daugherty Mode of inheritance for gene ORC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ORC4 Louise Daugherty Mode of inheritance for gene ORC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ORC1 Louise Daugherty Mode of inheritance for gene ORC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 ORAI1 Louise Daugherty Mode of inheritance for gene ORAI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OPHN1 Louise Daugherty Mode of inheritance for gene OPHN1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OPA3 Louise Daugherty Mode of inheritance for gene OPA3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OPA1 Louise Daugherty Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OGT Louise Daugherty Mode of inheritance for gene OGT was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OFD1 Louise Daugherty Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 ODC1 Louise Daugherty Mode of inheritance for gene ODC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 C4orf26 Louise Daugherty Mode of inheritance for gene C4orf26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OCRL Louise Daugherty Mode of inheritance for gene OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 OCLN Louise Daugherty Mode of inheritance for gene OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OCA2 Louise Daugherty Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OBSL1 Louise Daugherty Mode of inheritance for gene OBSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 OAT Louise Daugherty Mode of inheritance for gene OAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NYX Louise Daugherty Mode of inheritance for gene NYX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NUS1 Louise Daugherty Mode of inheritance for gene NUS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NUP93 Louise Daugherty Mode of inheritance for gene NUP93 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NUP107 Louise Daugherty Mode of inheritance for gene NUP107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NUBPL Louise Daugherty Mode of inheritance for gene NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NTRK2 Louise Daugherty Mode of inheritance for gene NTRK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NTRK1 Louise Daugherty Mode of inheritance for gene NTRK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NT5C3A Louise Daugherty Mode of inheritance for gene NT5C3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NT5C2 Louise Daugherty Mode of inheritance for gene NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NSUN2 Louise Daugherty Mode of inheritance for gene NSUN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NSMCE3 Louise Daugherty Mode of inheritance for gene NSMCE3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NSDHL Louise Daugherty Mode of inheritance for gene NSDHL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NSD2 Louise Daugherty Mode of inheritance for gene NSD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NSD1 Louise Daugherty Mode of inheritance for gene NSD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NRXN1 Louise Daugherty Mode of inheritance for gene NRXN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NRAS Louise Daugherty Mode of inheritance for gene NRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NR5A1 Louise Daugherty Mode of inheritance for gene NR5A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NR2F2 Louise Daugherty Mode of inheritance for gene NR2F2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NR2F1 Louise Daugherty Mode of inheritance for gene NR2F1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NR1H4 Louise Daugherty Mode of inheritance for gene NR1H4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NR0B1 Louise Daugherty Mode of inheritance for gene NR0B1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NPRL3 Louise Daugherty Mode of inheritance for gene NPRL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NPR2 Louise Daugherty Mode of inheritance for gene NPR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NPHS2 Louise Daugherty Mode of inheritance for gene NPHS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NPHS1 Louise Daugherty Mode of inheritance for gene NPHS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NPHP4 Louise Daugherty Mode of inheritance for gene NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NPHP3 Louise Daugherty Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NPHP1 Louise Daugherty Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NPC2 Louise Daugherty Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NPC1 Louise Daugherty Mode of inheritance for gene NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NOTCH3 Louise Daugherty Mode of inheritance for gene NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NOTCH2 Louise Daugherty Mode of inheritance for gene NOTCH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NOTCH1 Louise Daugherty Mode of inheritance for gene NOTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NOP56 Louise Daugherty Mode of inheritance for gene NOP56 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NOP10 Louise Daugherty Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NONO Louise Daugherty Mode of inheritance for gene NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NOG Louise Daugherty Mode of inheritance for gene NOG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NODAL Louise Daugherty Mode of inheritance for gene NODAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NOD2 Louise Daugherty Mode of inheritance for gene NOD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NMNAT1 Louise Daugherty Mode of inheritance for gene NMNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NLRP3 Louise Daugherty Mode of inheritance for gene NLRP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NLRP12 Louise Daugherty Mode of inheritance for gene NLRP12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NLRC4 Louise Daugherty Mode of inheritance for gene NLRC4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NLGN3 Louise Daugherty Mode of inheritance for gene NLGN3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NKX6-2 Louise Daugherty Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NKX3-2 Louise Daugherty Mode of inheritance for gene NKX3-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NKX2-5 Louise Daugherty Mode of inheritance for gene NKX2-5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NKX2-1 Louise Daugherty Mode of inheritance for gene NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NIPBL Louise Daugherty Mode of inheritance for gene NIPBL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NIPAL4 Louise Daugherty Mode of inheritance for gene NIPAL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NIPA1 Louise Daugherty Mode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NHS Louise Daugherty Mode of inheritance for gene NHS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NHP2 Louise Daugherty Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NHLRC1 Louise Daugherty Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NHEJ1 Louise Daugherty Mode of inheritance for gene NHEJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NGLY1 Louise Daugherty Mode of inheritance for gene NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NFU1 Louise Daugherty Mode of inheritance for gene NFU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NFKBIA Louise Daugherty Mode of inheritance for gene NFKBIA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NFKB2 Louise Daugherty Mode of inheritance for gene NFKB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NFKB1 Louise Daugherty Mode of inheritance for gene NFKB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NFIX Louise Daugherty Mode of inheritance for gene NFIX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NFIA Louise Daugherty Mode of inheritance for gene NFIA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NFE2L2 Louise Daugherty Mode of inheritance for gene NFE2L2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NFASC Louise Daugherty Mode of inheritance for gene NFASC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NF2 Louise Daugherty Mode of inheritance for gene NF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NF1 Louise Daugherty Mode of inheritance for gene NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NEXMIF Louise Daugherty Mode of inheritance for gene NEXMIF was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NEU1 Louise Daugherty Mode of inheritance for gene NEU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NEK8 Louise Daugherty Mode of inheritance for gene NEK8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NEK1 Louise Daugherty Mode of inheritance for gene NEK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NEFL Louise Daugherty Mode of inheritance for gene NEFL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NEFH Louise Daugherty Mode of inheritance for gene NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NEDD4L Louise Daugherty Mode of inheritance for gene NEDD4L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NECTIN4 Louise Daugherty Mode of inheritance for gene NECTIN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NECTIN1 Louise Daugherty Mode of inheritance for gene NECTIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NEB Louise Daugherty Mode of inheritance for gene NEB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFV2 Louise Daugherty Mode of inheritance for gene NDUFV2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFV1 Louise Daugherty Mode of inheritance for gene NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFS8 Louise Daugherty Mode of inheritance for gene NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFS7 Louise Daugherty Mode of inheritance for gene NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFS6 Louise Daugherty Mode of inheritance for gene NDUFS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFS4 Louise Daugherty Mode of inheritance for gene NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFS3 Louise Daugherty Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFS2 Louise Daugherty Mode of inheritance for gene NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFS1 Louise Daugherty Mode of inheritance for gene NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFB8 Louise Daugherty Mode of inheritance for gene NDUFB8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFB3 Louise Daugherty Mode of inheritance for gene NDUFB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFB11 Louise Daugherty Mode of inheritance for gene NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NDUFAF8 Louise Daugherty Mode of inheritance for gene NDUFAF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFAF6 Louise Daugherty Mode of inheritance for gene NDUFAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFAF5 Louise Daugherty Mode of inheritance for gene NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFAF4 Louise Daugherty Mode of inheritance for gene NDUFAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFAF3 Louise Daugherty Mode of inheritance for gene NDUFAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFAF2 Louise Daugherty Mode of inheritance for gene NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFAF1 Louise Daugherty Mode of inheritance for gene NDUFAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFA9 Louise Daugherty Mode of inheritance for gene NDUFA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFA6 Louise Daugherty Mode of inheritance for gene NDUFA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFA4 Louise Daugherty Mode of inheritance for gene NDUFA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFA11 Louise Daugherty Mode of inheritance for gene NDUFA11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFA10 Louise Daugherty Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDUFA1 Louise Daugherty Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NDST1 Louise Daugherty Mode of inheritance for gene NDST1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDRG1 Louise Daugherty Mode of inheritance for gene NDRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NDP Louise Daugherty Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NDE1 Louise Daugherty Mode of inheritance for gene NDE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NCF2 Louise Daugherty Mode of inheritance for gene NCF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NCF1 Louise Daugherty Mode of inheritance for gene NCF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NBN Louise Daugherty Mode of inheritance for gene NBN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NBEAL2 Louise Daugherty Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NBEA Louise Daugherty Mode of inheritance for gene NBEA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NBAS Louise Daugherty Mode of inheritance for gene NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NAXE Louise Daugherty Mode of inheritance for gene NAXE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NARS2 Louise Daugherty Mode of inheritance for gene NARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NANS Louise Daugherty Mode of inheritance for gene NANS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NALCN Louise Daugherty Mode of inheritance for gene NALCN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NAGS Louise Daugherty Mode of inheritance for gene NAGS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NAGLU Louise Daugherty Mode of inheritance for gene NAGLU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NAGA Louise Daugherty Mode of inheritance for gene NAGA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NACC1 Louise Daugherty Mode of inheritance for gene NACC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NAA15 Louise Daugherty Mode of inheritance for gene NAA15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NAA10 Louise Daugherty Mode of inheritance for gene NAA10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 MYT1L Louise Daugherty Mode of inheritance for gene MYT1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYT1 Louise Daugherty Mode of inheritance for gene MYT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYSM1 Louise Daugherty Mode of inheritance for gene MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYRF Louise Daugherty Mode of inheritance for gene MYRF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYOT Louise Daugherty Mode of inheritance for gene MYOT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYO7A Louise Daugherty Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO6 Louise Daugherty Mode of inheritance for gene MYO6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO5B Louise Daugherty Mode of inheritance for gene MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO5A Louise Daugherty Mode of inheritance for gene MYO5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO3A Louise Daugherty Mode of inheritance for gene MYO3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO1E Louise Daugherty Mode of inheritance for gene MYO1E was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO18B Louise Daugherty Mode of inheritance for gene MYO18B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYO15A Louise Daugherty Mode of inheritance for gene MYO15A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYMK Louise Daugherty Mode of inheritance for gene MYMK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYL1 Louise Daugherty Mode of inheritance for gene MYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH9 Louise Daugherty Mode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYH8 Louise Daugherty Mode of inheritance for gene MYH8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH7 Louise Daugherty Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH6 Louise Daugherty Mode of inheritance for gene MYH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYH3 Louise Daugherty Mode of inheritance for gene MYH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH2 Louise Daugherty Mode of inheritance for gene MYH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYH14 Louise Daugherty Mode of inheritance for gene MYH14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYH10 Louise Daugherty Mode of inheritance for gene MYH10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYD88 Louise Daugherty Mode of inheritance for gene MYD88 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MYCN Louise Daugherty Mode of inheritance for gene MYCN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MYBPC1 Louise Daugherty Mode of inheritance for gene MYBPC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MVK Louise Daugherty Mode of inheritance for gene MVK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MUSK Louise Daugherty Mode of inheritance for gene MUSK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MUC1 Louise Daugherty Mode of inheritance for gene MUC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MTTP Louise Daugherty Mode of inheritance for gene MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTRR Louise Daugherty Mode of inheritance for gene MTRR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTR Louise Daugherty Mode of inheritance for gene MTR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTOR Louise Daugherty Mode of inheritance for gene MTOR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MTO1 Louise Daugherty Mode of inheritance for gene MTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTMR2 Louise Daugherty Mode of inheritance for gene MTMR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTM1 Louise Daugherty Mode of inheritance for gene MTM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 MTHFR Louise Daugherty Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTHFD1 Louise Daugherty Mode of inheritance for gene MTHFD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MTFMT Louise Daugherty Mode of inheritance for gene MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MSX2 Louise Daugherty Mode of inheritance for gene MSX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MSX1 Louise Daugherty Mode of inheritance for gene MSX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MSTO1 Louise Daugherty Mode of inheritance for gene MSTO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MSN Louise Daugherty Mode of inheritance for gene MSN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 MSMO1 Louise Daugherty Mode of inheritance for gene MSMO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MSL3 Louise Daugherty Mode of inheritance for gene MSL3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 MSH6 Louise Daugherty Mode of inheritance for gene MSH6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MS4A1 Louise Daugherty Mode of inheritance for gene MS4A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MRPS34 Louise Daugherty Mode of inheritance for gene MRPS34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MRPS22 Louise Daugherty Mode of inheritance for gene MRPS22 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MRPS2 Louise Daugherty Mode of inheritance for gene MRPS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MRPL3 Louise Daugherty Mode of inheritance for gene MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MRE11 Louise Daugherty Mode of inheritance for gene MRE11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPZ Louise Daugherty Mode of inheritance for gene MPZ was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPV17 Louise Daugherty Mode of inheritance for gene MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPO Louise Daugherty Mode of inheritance for gene MPO was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPLKIP Louise Daugherty Mode of inheritance for gene MPLKIP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPL Louise Daugherty Mode of inheritance for gene MPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPIG6B Louise Daugherty Mode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPI Louise Daugherty Mode of inheritance for gene MPI was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPDU1 Louise Daugherty Mode of inheritance for gene MPDU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MPC1 Louise Daugherty Mode of inheritance for gene MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MORC2 Louise Daugherty Mode of inheritance for gene MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MOGS Louise Daugherty Mode of inheritance for gene MOGS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MOCS2 Louise Daugherty Mode of inheritance for gene MOCS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MOCS1 Louise Daugherty Mode of inheritance for gene MOCS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MNX1 Louise Daugherty Mode of inheritance for gene MNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 MUT Louise Daugherty Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMP21 Louise Daugherty Mode of inheritance for gene MMP21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMP2 Louise Daugherty Mode of inheritance for gene MMP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMP13 Louise Daugherty Mode of inheritance for gene MMP13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMADHC Louise Daugherty Mode of inheritance for gene MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMACHC Louise Daugherty Mode of inheritance for gene MMACHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMAB Louise Daugherty Mode of inheritance for gene MMAB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MMAA Louise Daugherty Mode of inheritance for gene MMAA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MLYCD Louise Daugherty Mode of inheritance for gene MLYCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MLC1 Louise Daugherty Mode of inheritance for gene MLC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 MKS1 Louise Daugherty Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.10 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.10 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.9 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.9 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.9 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.9 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.9 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.9 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.8 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.8 WASF1 Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.8 WAS Louise Daugherty Added phenotypes Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, intermittent, 313900; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
Severe Paediatric Disorders v0.8 PMS2 Louise Daugherty Mode of inheritance for gene PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Intellectual disability, developmental delay for gene: PMS2
Severe Paediatric Disorders v0.8 VPS35 Louise Daugherty Mode of inheritance for gene VPS35 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Candidiasis, familial, 8, 615527 for gene: VPS35
Severe Paediatric Disorders v0.8 TRAF3IP2 Louise Daugherty Mode of inheritance for gene TRAF3IP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
Severe Paediatric Disorders v0.8 TNFSF12 Louise Daugherty Mode of inheritance for gene TNFSF12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12
Severe Paediatric Disorders v0.8 TNFRSF4 Louise Daugherty Mode of inheritance for gene TNFRSF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707 for gene: TNFRSF4
Severe Paediatric Disorders v0.8 SMO Louise Daugherty Mode of inheritance for gene SMO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.8 SIM1 Louise Daugherty Mode of inheritance for gene SIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Porokeratosis for gene: SIM1
Severe Paediatric Disorders v0.8 SART3 Louise Daugherty Mode of inheritance for gene SART3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.8 RPS15 Louise Daugherty Mode of inheritance for gene RPS15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
Severe Paediatric Disorders v0.8 RNF31 Louise Daugherty Mode of inheritance for gene RNF31 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31
Severe Paediatric Disorders v0.8 RNF135 Louise Daugherty Mode of inheritance for gene RNF135 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.8 PRICKLE2 Louise Daugherty Mode of inheritance for gene PRICKLE2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Autism for gene: PRICKLE2
Severe Paediatric Disorders v0.8 NRXN3 Louise Daugherty Mode of inheritance for gene NRXN3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny for gene: NRXN3
Severe Paediatric Disorders v0.8 NFAT5 Louise Daugherty Mode of inheritance for gene NFAT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Mode of inheritance for gene MUTYH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 MEN1 Louise Daugherty Mode of inheritance for gene MEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes {Chronic infections, due to MBL deficiency}, 614372 for gene: MEN1
Severe Paediatric Disorders v0.8 MBL2 Louise Daugherty Mode of inheritance for gene MBL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mental retardation for gene: MBL2
Severe Paediatric Disorders v0.8 KIRREL3 Louise Daugherty Mode of inheritance for gene KIRREL3 was changed from to Unknown
Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.8 ITGAM Louise Daugherty Mode of inheritance for gene ITGAM was changed from to Unknown
Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.8 IL22 Louise Daugherty Mode of inheritance for gene IL22 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
Severe Paediatric Disorders v0.8 IL17A Louise Daugherty Mode of inheritance for gene IL17A was changed from to Unknown
Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.8 IL10 Louise Daugherty Mode of inheritance for gene IL10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {Glioma, susceptibility to, somatic}, 137800 for gene: IL10
Severe Paediatric Disorders v0.8 IDH1 Louise Daugherty Mode of inheritance for gene IDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leiomyoma, uterine, somatic, 150699 for gene: IDH1
Severe Paediatric Disorders v0.8 HMGA2 Louise Daugherty Mode of inheritance for gene HMGA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.8 GNAQ Louise Daugherty Mode of inheritance for gene GNAQ was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Periodontitis, susceptibility to for gene: GNAQ
Severe Paediatric Disorders v0.8 FPR1 Louise Daugherty Mode of inheritance for gene FPR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.8 EZH1 Louise Daugherty Mode of inheritance for gene EZH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia for gene: EZH1
Severe Paediatric Disorders v0.8 DRD2 Louise Daugherty Mode of inheritance for gene DRD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Pentosuria], 260800 for gene: DRD2
Severe Paediatric Disorders v0.8 DCXR Louise Daugherty Mode of inheritance for gene DCXR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.8 CFHR4 Louise Daugherty Mode of inheritance for gene CFHR4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.8 CFHR3 Louise Daugherty Mode of inheritance for gene CFHR3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.8 CFHR2 Louise Daugherty Mode of inheritance for gene CFHR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.8 CFHR1 Louise Daugherty Mode of inheritance for gene CFHR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.8 CD46 Louise Daugherty Mode of inheritance for gene CD46 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Inflammatory bowel disease (Crohn disease) 10}, 611081 for gene: CD46
Severe Paediatric Disorders v0.8 ATG16L1 Louise Daugherty Mode of inheritance for gene ATG16L1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.8 ACTL6A Louise Daugherty Mode of inheritance for gene ACTL6A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Autism spectrum disorders or developmental disorders for gene: ACTL6A
Severe Paediatric Disorders v0.8 ZNF292 Louise Daugherty Mode of inheritance for gene ZNF292 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Tetra-amelia syndrome 1, 273395 for gene: ZNF292
Severe Paediatric Disorders v0.8 WNT3 Louise Daugherty Mode of inheritance for gene WNT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Wiskott-Aldrich syndrome 2, 614493 for gene: WNT3
Severe Paediatric Disorders v0.8 WIPF1 Louise Daugherty Mode of inheritance for gene WIPF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WIPF1
Severe Paediatric Disorders v0.8 WDPCP Louise Daugherty Mode of inheritance for gene WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Urocanase deficiency, 276880 for gene: WDPCP
Severe Paediatric Disorders v0.8 UROC1 Louise Daugherty Mode of inheritance for gene UROC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency 13, 615518; ?Cone-rod dystrophy for gene: UROC1
Severe Paediatric Disorders v0.8 UNC119 Louise Daugherty Mode of inheritance for gene UNC119 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 for gene: UNC119
Severe Paediatric Disorders v0.8 TSEN34 Louise Daugherty Mode of inheritance for gene TSEN34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
Severe Paediatric Disorders v0.8 TRAF3 Louise Daugherty Mode of inheritance for gene TRAF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.8 TPM4 Louise Daugherty Mode of inheritance for gene TPM4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
Severe Paediatric Disorders v0.8 SNAP25 Louise Daugherty Mode of inheritance for gene SNAP25 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 for gene: SNAP25
Severe Paediatric Disorders v0.8 SLC25A32 Louise Daugherty Mode of inheritance for gene SLC25A32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 for gene: SLC25A32
Severe Paediatric Disorders v0.8 SLC18A2 Louise Daugherty Mode of inheritance for gene SLC18A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.8 SIGMAR1 Louise Daugherty Mode of inheritance for gene SIGMAR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?CHARGE syndrome, 214800 for gene: SIGMAR1
Severe Paediatric Disorders v0.8 SEMA3E Louise Daugherty Mode of inheritance for gene SEMA3E was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
Severe Paediatric Disorders v0.8 SCP2 Louise Daugherty Mode of inheritance for gene SCP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.8 RHOH Louise Daugherty Mode of inheritance for gene RHOH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Mode of inheritance for gene REEP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.8 RB1 Louise Daugherty Mode of inheritance for gene RB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
Severe Paediatric Disorders v0.8 PTCHD1 Louise Daugherty Mode of inheritance for gene PTCHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Bleeding disorder, platelet-type, 19, 616176 for gene: PTCHD1
Severe Paediatric Disorders v0.8 PRKACG Louise Daugherty Mode of inheritance for gene PRKACG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
Severe Paediatric Disorders v0.8 PNPLA8 Louise Daugherty Mode of inheritance for gene PNPLA8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.8 PEX11B Louise Daugherty Mode of inheritance for gene PEX11B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
Severe Paediatric Disorders v0.8 PCK1 Louise Daugherty Mode of inheritance for gene PCK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 for gene: PCK1
Severe Paediatric Disorders v0.8 NIN Louise Daugherty Mode of inheritance for gene NIN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Seckel syndrome 7, 614851 for gene: NIN
Severe Paediatric Disorders v0.8 NDUFA2 Louise Daugherty Mode of inheritance for gene NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial complex I deficiency, nuclear type 13, 618235 for gene: NDUFA2
Severe Paediatric Disorders v0.8 NCF4 Louise Daugherty Mode of inheritance for gene NCF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.8 NADK2 Louise Daugherty Mode of inheritance for gene NADK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?2,4-dienoyl-CoA reductase deficiency, 616034 for gene: NADK2
Severe Paediatric Disorders v0.8 MTPAP Louise Daugherty Mode of inheritance for gene MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.8 MRPL44 Louise Daugherty Mode of inheritance for gene MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44
Severe Paediatric Disorders v0.8 MAP3K14 Louise Daugherty Mode of inheritance for gene MAP3K14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.8 LIG1 Louise Daugherty Mode of inheritance for gene LIG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes DNA ligase I deficiency for gene: LIG1
Severe Paediatric Disorders v0.8 LCK Louise Daugherty Mode of inheritance for gene LCK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency 22, 615758 for gene: LCK
Severe Paediatric Disorders v0.8 KIAA0753 Louise Daugherty Mode of inheritance for gene KIAA0753 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Orofaciodigital syndrome XV, 617127 for gene: KIAA0753
Severe Paediatric Disorders v0.8 KCNT2 Louise Daugherty Mode of inheritance for gene KCNT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
Severe Paediatric Disorders v0.8 IRF7 Louise Daugherty Mode of inheritance for gene IRF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency 39, 616345 for gene: IRF7
Severe Paediatric Disorders v0.8 IL21 Louise Daugherty Mode of inheritance for gene IL21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency, common variable, 11, 615767 for gene: IL21
Severe Paediatric Disorders v0.8 IL17F Louise Daugherty Mode of inheritance for gene IL17F was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Candidiasis, familial, 6, autosomal dominant, 613956 for gene: IL17F
Severe Paediatric Disorders v0.8 HYAL1 Louise Daugherty Mode of inheritance for gene HYAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mucopolysaccharidosis type IX, 601492 for gene: HYAL1
Severe Paediatric Disorders v0.8 HARS2 Louise Daugherty Mode of inheritance for gene HARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Perrault syndrome 2, 614926 for gene: HARS2
Severe Paediatric Disorders v0.8 GFI1 Louise Daugherty Mode of inheritance for gene GFI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
Severe Paediatric Disorders v0.8 GAD1 Louise Daugherty Mode of inheritance for gene GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1
Severe Paediatric Disorders v0.8 FRMD4A Louise Daugherty Mode of inheritance for gene FRMD4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
Severe Paediatric Disorders v0.8 FASTKD2 Louise Daugherty Mode of inheritance for gene FASTKD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: FASTKD2
Severe Paediatric Disorders v0.8 DDOST Louise Daugherty Mode of inheritance for gene DDOST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 for gene: DDOST
Severe Paediatric Disorders v0.8 CPT1C Louise Daugherty Mode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.8 COX14 Louise Daugherty Mode of inheritance for gene COX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: COX14
Severe Paediatric Disorders v0.8 COQ7 Louise Daugherty Mode of inheritance for gene COQ7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Coenzyme Q10 deficiency, primary, 8, 616733 for gene: COQ7
Severe Paediatric Disorders v0.8 CFB Louise Daugherty Mode of inheritance for gene CFB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Complement factor B deficiency, 615561 for gene: CFB
Severe Paediatric Disorders v0.8 CDC6 Louise Daugherty Mode of inheritance for gene CDC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6
Severe Paediatric Disorders v0.8 CASP8 Louise Daugherty Mode of inheritance for gene CASP8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 for gene: CASP8
Severe Paediatric Disorders v0.8 BLNK Louise Daugherty Mode of inheritance for gene BLNK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Agammaglobulinemia 4, 613502 for gene: BLNK
Severe Paediatric Disorders v0.8 BCL10 Louise Daugherty Mode of inheritance for gene BCL10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency 37, 616098 for gene: BCL10
Severe Paediatric Disorders v0.8 ATPAF2 Louise Daugherty Mode of inheritance for gene ATPAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
Severe Paediatric Disorders v0.8 ATP8A2 Louise Daugherty Mode of inheritance for gene ATP8A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 for gene: ATP8A2
Severe Paediatric Disorders v0.8 APOL1 Louise Daugherty Mode of inheritance for gene APOL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551; {End-stage renal disease, nondiabetic, susceptibility to}, 612551 for gene: APOL1
Severe Paediatric Disorders v0.8 ADAM17 Louise Daugherty Mode of inheritance for gene ADAM17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.8 ACD Louise Daugherty Mode of inheritance for gene ACD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD
Severe Paediatric Disorders v0.8 ZSWIM6 Louise Daugherty Mode of inheritance for gene ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
Severe Paediatric Disorders v0.8 ZNF711 Louise Daugherty Mode of inheritance for gene ZNF711 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.8 ZNF469 Louise Daugherty Mode of inheritance for gene ZNF469 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brittle cornea syndrome 1, 229200 for gene: ZNF469
Severe Paediatric Disorders v0.8 ZNF462 Louise Daugherty Mode of inheritance for gene ZNF462 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Weiss-Kruszka syndrome, 618619 for gene: ZNF462
Severe Paediatric Disorders v0.8 ZNF148 Louise Daugherty Mode of inheritance for gene ZNF148 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.8 ZNF142 Louise Daugherty Mode of inheritance for gene ZNF142 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.8 ZMYND11 Louise Daugherty Mode of inheritance for gene ZMYND11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 30, 616083 for gene: ZMYND11
Severe Paediatric Disorders v0.8 ZMPSTE24 Louise Daugherty Mode of inheritance for gene ZMPSTE24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
Severe Paediatric Disorders v0.8 ZMIZ1 Louise Daugherty Mode of inheritance for gene ZMIZ1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.8 ZIC3 Louise Daugherty Mode of inheritance for gene ZIC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes VACTERL association, X-linked, 314390; Heterotaxy, visceral, 1, X-linked, 306955; Congenital heart defects, nonsyndromic, 1, X-linked, 306955 for gene: ZIC3
Severe Paediatric Disorders v0.8 ZIC2 Louise Daugherty Mode of inheritance for gene ZIC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holoprosencephaly 5, 609637 for gene: ZIC2
Severe Paediatric Disorders v0.8 ZIC1 Louise Daugherty Mode of inheritance for gene ZIC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Craniosynostosis 6, 616602 for gene: ZIC1
Severe Paediatric Disorders v0.8 ZFYVE26 Louise Daugherty Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.8 ZFP57 Louise Daugherty Mode of inheritance for gene ZFP57 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
Severe Paediatric Disorders v0.8 ZEB2 Louise Daugherty Mode of inheritance for gene ZEB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mowat-Wilson syndrome, 235730 for gene: ZEB2
Severe Paediatric Disorders v0.8 ZDHHC9 Louise Daugherty Mode of inheritance for gene ZDHHC9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
Severe Paediatric Disorders v0.8 ZC4H2 Louise Daugherty Mode of inheritance for gene ZC4H2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Wieacker-Wolff syndrome, 314580 for gene: ZC4H2
Severe Paediatric Disorders v0.8 ZBTB24 Louise Daugherty Mode of inheritance for gene ZBTB24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 for gene: ZBTB24
Severe Paediatric Disorders v0.8 ZBTB20 Louise Daugherty Mode of inheritance for gene ZBTB20 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Primrose syndrome, 259050 for gene: ZBTB20
Severe Paediatric Disorders v0.8 ZBTB18 Louise Daugherty Mode of inheritance for gene ZBTB18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 22, 612337 for gene: ZBTB18
Severe Paediatric Disorders v0.8 ZAP70 Louise Daugherty Mode of inheritance for gene ZAP70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Autoimmune disease, multisystem, infantile-onset, 2, 617006; Immunodeficiency 48, 269840 for gene: ZAP70
Severe Paediatric Disorders v0.8 YY1 Louise Daugherty Mode of inheritance for gene YY1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Gabriele-de Vries syndrome, 617557 for gene: YY1
Severe Paediatric Disorders v0.8 YWHAG Louise Daugherty Mode of inheritance for gene YWHAG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
Severe Paediatric Disorders v0.8 YARS2 Louise Daugherty Mode of inheritance for gene YARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Severe Paediatric Disorders v0.8 XYLT2 Louise Daugherty Mode of inheritance for gene XYLT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spondyloocular syndrome, 605822 for gene: XYLT2
Severe Paediatric Disorders v0.8 XYLT1 Louise Daugherty Mode of inheritance for gene XYLT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.8 XRCC4 Louise Daugherty Mode of inheritance for gene XRCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 for gene: XRCC4
Severe Paediatric Disorders v0.8 XPR1 Louise Daugherty Mode of inheritance for gene XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.8 XPC Louise Daugherty Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group C, 278720 for gene: XPC
Severe Paediatric Disorders v0.8 XPA Louise Daugherty Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
Severe Paediatric Disorders v0.8 XIAP Louise Daugherty Mode of inheritance for gene XIAP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lymphoproliferative syndrome, X-linked, 2, 300635 for gene: XIAP
Severe Paediatric Disorders v0.8 XDH Louise Daugherty Mode of inheritance for gene XDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
Severe Paediatric Disorders v0.8 WWOX Louise Daugherty Mode of inheritance for gene WWOX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
Severe Paediatric Disorders v0.8 WT1 Louise Daugherty Mode of inheritance for gene WT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.8 WRN Louise Daugherty Mode of inheritance for gene WRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Werner syndrome, 277700 for gene: WRN
Severe Paediatric Disorders v0.8 WRAP53 Louise Daugherty Mode of inheritance for gene WRAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 for gene: WRAP53
Severe Paediatric Disorders v0.8 WNT7A Louise Daugherty Mode of inheritance for gene WNT7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
Severe Paediatric Disorders v0.8 WNT5A Louise Daugherty Mode of inheritance for gene WNT5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Robinow syndrome, autosomal dominant 1, 180700 for gene: WNT5A
Severe Paediatric Disorders v0.8 WNT10B Louise Daugherty Mode of inheritance for gene WNT10B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
Severe Paediatric Disorders v0.8 WNT10A Louise Daugherty Mode of inheritance for gene WNT10A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
Severe Paediatric Disorders v0.8 WNT1 Louise Daugherty Mode of inheritance for gene WNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Severe Paediatric Disorders v0.8 WFS1 Louise Daugherty Mode of inheritance for gene WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41, 116400; Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296 for gene: WFS1
Severe Paediatric Disorders v0.8 WDR81 Louise Daugherty Mode of inheritance for gene WDR81 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
Severe Paediatric Disorders v0.8 WDR73 Louise Daugherty Mode of inheritance for gene WDR73 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Galloway-Mowat syndrome 1, 251300 for gene: WDR73
Severe Paediatric Disorders v0.8 WDR62 Louise Daugherty Mode of inheritance for gene WDR62 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
Severe Paediatric Disorders v0.8 WDR60 Louise Daugherty Mode of inheritance for gene WDR60 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.8 WDR45B Louise Daugherty Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.8 WDR45 Louise Daugherty Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.8 WDR4 Louise Daugherty Mode of inheritance for gene WDR4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
Severe Paediatric Disorders v0.8 WDR37 Louise Daugherty Mode of inheritance for gene WDR37 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurooculocardiogenitourinary syndrome, 618652 for gene: WDR37
Severe Paediatric Disorders v0.8 WDR35 Louise Daugherty Mode of inheritance for gene WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.8 WDR34 Louise Daugherty Mode of inheritance for gene WDR34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.8 WDR26 Louise Daugherty Mode of inheritance for gene WDR26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Skraban-Deardorff syndrome, 617616 for gene: WDR26
Severe Paediatric Disorders v0.8 WDR19 Louise Daugherty Mode of inheritance for gene WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.8 WDR11 Louise Daugherty Mode of inheritance for gene WDR11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
Severe Paediatric Disorders v0.8 WASHC5 Louise Daugherty Mode of inheritance for gene WASHC5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.8 WASF1 Louise Daugherty Mode of inheritance for gene WASF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
Severe Paediatric Disorders v0.8 WAS Louise Daugherty Mode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.8 WARS2 Louise Daugherty Mode of inheritance for gene WARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
Severe Paediatric Disorders v0.8 WAC Louise Daugherty Mode of inheritance for gene WAC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Desanto-Shinawi syndrome, 616708 for gene: WAC
Severe Paediatric Disorders v0.8 VWF Louise Daugherty Mode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes von Willibrand disease, type 3, 277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554; von Willebrand disease, type 1, 193400 for gene: VWF
Severe Paediatric Disorders v0.8 VSX2 Louise Daugherty Mode of inheritance for gene VSX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
Severe Paediatric Disorders v0.8 VRK1 Louise Daugherty Mode of inheritance for gene VRK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia type 1A, 607596 for gene: VRK1
Severe Paediatric Disorders v0.8 VPS53 Louise Daugherty Mode of inheritance for gene VPS53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 for gene: VPS53
Severe Paediatric Disorders v0.8 VPS45 Louise Daugherty Mode of inheritance for gene VPS45 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 for gene: VPS45
Severe Paediatric Disorders v0.8 VPS33B Louise Daugherty Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.8 VPS13D Louise Daugherty Mode of inheritance for gene VPS13D was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D
Severe Paediatric Disorders v0.8 VPS13B Louise Daugherty Mode of inheritance for gene VPS13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cohen syndrome, 216550 for gene: VPS13B
Severe Paediatric Disorders v0.8 VPS13A Louise Daugherty Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.8 VPS11 Louise Daugherty Mode of inheritance for gene VPS11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 for gene: VPS11
Severe Paediatric Disorders v0.8 VMA21 Louise Daugherty Mode of inheritance for gene VMA21 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Severe Paediatric Disorders v0.8 VLDLR Louise Daugherty Mode of inheritance for gene VLDLR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.8 VKORC1 Louise Daugherty Mode of inheritance for gene VKORC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473; Warfarin resistance, 122700 for gene: VKORC1
Severe Paediatric Disorders v0.8 VIPAS39 Louise Daugherty Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.8 VHL Louise Daugherty Mode of inheritance for gene VHL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.8 VDR Louise Daugherty Mode of inheritance for gene VDR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Rickets, vitamin D-resistant, type IIA, 277440 for gene: VDR
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Mode of inheritance for gene VCP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 VCAN Louise Daugherty Mode of inheritance for gene VCAN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Wagner syndrome 1, 143200 for gene: VCAN
Severe Paediatric Disorders v0.8 VARS2 Louise Daugherty Mode of inheritance for gene VARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
Severe Paediatric Disorders v0.8 VARS Louise Daugherty Mode of inheritance for gene VARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
Severe Paediatric Disorders v0.8 VAMP2 Louise Daugherty Mode of inheritance for gene VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Stereotypic behavior; Global developmental delay; Generalized hypotonia; Abnormality of movement; Autistic behavior; Seizures; Cortical visual impairment; Intellectual disability; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2
Severe Paediatric Disorders v0.8 VAMP1 Louise Daugherty Mode of inheritance for gene VAMP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.8 VAC14 Louise Daugherty Mode of inheritance for gene VAC14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Striatonigral degeneration, childhood-onset, 617054 for gene: VAC14
Severe Paediatric Disorders v0.8 UVSSA Louise Daugherty Mode of inheritance for gene UVSSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes UV-sensitive syndrome 3, 614640 for gene: UVSSA
Severe Paediatric Disorders v0.8 USP9X Louise Daugherty Mode of inheritance for gene USP9X was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted, 300968; Mental retardation, X-linked 99, 300919 for gene: USP9X
Severe Paediatric Disorders v0.8 USP18 Louise Daugherty Mode of inheritance for gene USP18 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pseudo-TORCH syndrome 2, 617397 for gene: USP18
Severe Paediatric Disorders v0.8 USH2A Louise Daugherty Mode of inheritance for gene USH2A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809 for gene: USH2A
Severe Paediatric Disorders v0.8 USH1G Louise Daugherty Mode of inheritance for gene USH1G was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1G, 606943 for gene: USH1G
Severe Paediatric Disorders v0.8 USH1C Louise Daugherty Mode of inheritance for gene USH1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1C, 276904; Deafness, autosomal recessive 18A, 602092 for gene: USH1C
Severe Paediatric Disorders v0.8 USB1 Louise Daugherty Mode of inheritance for gene USB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.8 UROD Louise Daugherty Mode of inheritance for gene UROD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.8 UQCRB Louise Daugherty Mode of inheritance for gene UQCRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB
Severe Paediatric Disorders v0.8 UQCC2 Louise Daugherty Mode of inheritance for gene UQCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 for gene: UQCC2
Severe Paediatric Disorders v0.8 UPF3B Louise Daugherty Mode of inheritance for gene UPF3B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B
Severe Paediatric Disorders v0.8 UNG Louise Daugherty Mode of inheritance for gene UNG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.8 UNC93B1 Louise Daugherty Mode of inheritance for gene UNC93B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.8 UNC80 Louise Daugherty Mode of inheritance for gene UNC80 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
Severe Paediatric Disorders v0.8 UNC13D Louise Daugherty Mode of inheritance for gene UNC13D was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 for gene: UNC13D
Severe Paediatric Disorders v0.8 UMPS Louise Daugherty Mode of inheritance for gene UMPS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orotic aciduria, 258900 for gene: UMPS
Severe Paediatric Disorders v0.8 UMOD Louise Daugherty Mode of inheritance for gene UMOD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.8 UGT1A1 Louise Daugherty Mode of inheritance for gene UGT1A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Crigler-Najjar syndrome, type I, 218800; Crigler-Najjar syndrome, type II, 606785; Hyperbilirubinemia, familial transient neonatal, 237900 for gene: UGT1A1
Severe Paediatric Disorders v0.8 UFM1 Louise Daugherty Mode of inheritance for gene UFM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 14, 617899 for gene: UFM1
Severe Paediatric Disorders v0.8 UFC1 Louise Daugherty Mode of inheritance for gene UFC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.8 UCHL1 Louise Daugherty Mode of inheritance for gene UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.8 UBTF Louise Daugherty Mode of inheritance for gene UBTF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
Severe Paediatric Disorders v0.8 UBR1 Louise Daugherty Mode of inheritance for gene UBR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Johanson-Blizzard syndrome, 243800 for gene: UBR1
Severe Paediatric Disorders v0.8 UBE3B Louise Daugherty Mode of inheritance for gene UBE3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kaufman oculocerebrofacial syndrome, 244450 for gene: UBE3B
Severe Paediatric Disorders v0.8 UBE3A Louise Daugherty Mode of inheritance for gene UBE3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Angelman syndrome, 105830 for gene: UBE3A
Severe Paediatric Disorders v0.8 UBE2T Louise Daugherty Mode of inheritance for gene UBE2T was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group T, 616435 for gene: UBE2T
Severe Paediatric Disorders v0.8 UBE2A Louise Daugherty Mode of inheritance for gene UBE2A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked syndromic, Nascimento-type, 300860 for gene: UBE2A
Severe Paediatric Disorders v0.8 UBAP1 Louise Daugherty Mode of inheritance for gene UBAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 80, autosomal dominant, 618418 for gene: UBAP1
Severe Paediatric Disorders v0.8 UBA5 Louise Daugherty Mode of inheritance for gene UBA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
Severe Paediatric Disorders v0.8 UBA1 Louise Daugherty Mode of inheritance for gene UBA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
Severe Paediatric Disorders v0.8 TYRP1 Louise Daugherty Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Severe Paediatric Disorders v0.8 TYROBP Louise Daugherty Mode of inheritance for gene TYROBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.8 TYR Louise Daugherty Mode of inheritance for gene TYR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470 for gene: TYR
Severe Paediatric Disorders v0.8 TYMP Louise Daugherty Mode of inheritance for gene TYMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 for gene: TYMP
Severe Paediatric Disorders v0.8 TYK2 Louise Daugherty Mode of inheritance for gene TYK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 35, 611521 for gene: TYK2
Severe Paediatric Disorders v0.8 TXNL4A Louise Daugherty Mode of inheritance for gene TXNL4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Burn-McKeown syndrome, 608572 for gene: TXNL4A
Severe Paediatric Disorders v0.8 TXNDC15 Louise Daugherty Mode of inheritance for gene TXNDC15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel-Gruber syndrome; MGS for gene: TXNDC15
Severe Paediatric Disorders v0.8 TWNK Louise Daugherty Mode of inheritance for gene TWNK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
Severe Paediatric Disorders v0.8 TWIST2 Louise Daugherty Mode of inheritance for gene TWIST2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2
Severe Paediatric Disorders v0.8 TWIST1 Louise Daugherty Mode of inheritance for gene TWIST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.8 TUSC3 Louise Daugherty Mode of inheritance for gene TUSC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 7, 611093 for gene: TUSC3
Severe Paediatric Disorders v0.8 TUFM Louise Daugherty Mode of inheritance for gene TUFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 4, 610678 for gene: TUFM
Severe Paediatric Disorders v0.8 TUBGCP6 Louise Daugherty Mode of inheritance for gene TUBGCP6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.8 TUBGCP4 Louise Daugherty Mode of inheritance for gene TUBGCP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.8 TUBG1 Louise Daugherty Mode of inheritance for gene TUBG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
Severe Paediatric Disorders v0.8 TUBB4A Louise Daugherty Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Severe Paediatric Disorders v0.8 TUBB3 Louise Daugherty Mode of inheritance for gene TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
Severe Paediatric Disorders v0.8 TUBB2B Louise Daugherty Mode of inheritance for gene TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
Severe Paediatric Disorders v0.8 TUBB2A Louise Daugherty Mode of inheritance for gene TUBB2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
Severe Paediatric Disorders v0.8 TUBB1 Louise Daugherty Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.8 TUBB Louise Daugherty Mode of inheritance for gene TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.8 TUBA8 Louise Daugherty Mode of inheritance for gene TUBA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
Severe Paediatric Disorders v0.8 TUBA1A Louise Daugherty Mode of inheritance for gene TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Severe Paediatric Disorders v0.8 TTR Louise Daugherty Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.8 TTPA Louise Daugherty Mode of inheritance for gene TTPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Severe Paediatric Disorders v0.8 TTN Louise Daugherty Mode of inheritance for gene TTN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.8 TTI2 Louise Daugherty Mode of inheritance for gene TTI2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 39, 615541 for gene: TTI2
Severe Paediatric Disorders v0.8 TTC8 Louise Daugherty Mode of inheritance for gene TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Severe Paediatric Disorders v0.8 TTC7A Louise Daugherty Mode of inheritance for gene TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 for gene: TTC7A
Severe Paediatric Disorders v0.8 TTC37 Louise Daugherty Mode of inheritance for gene TTC37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 1, 222470 for gene: TTC37
Severe Paediatric Disorders v0.8 TTC21B Louise Daugherty Mode of inheritance for gene TTC21B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.8 TTC19 Louise Daugherty Mode of inheritance for gene TTC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 for gene: TTC19
Severe Paediatric Disorders v0.8 TTBK2 Louise Daugherty Mode of inheritance for gene TTBK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spinocerebellar ataxia 11, 604432 for gene: TTBK2
Severe Paediatric Disorders v0.8 TSPAN7 Louise Daugherty Mode of inheritance for gene TSPAN7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 58, 300210 for gene: TSPAN7
Severe Paediatric Disorders v0.8 TSHR Louise Daugherty Mode of inheritance for gene TSHR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.8 TSHB Louise Daugherty Mode of inheritance for gene TSHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
Severe Paediatric Disorders v0.8 TSFM Louise Daugherty Mode of inheritance for gene TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 for gene: TSFM
Severe Paediatric Disorders v0.8 TSEN54 Louise Daugherty Mode of inheritance for gene TSEN54 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204 for gene: TSEN54
Severe Paediatric Disorders v0.8 TSEN2 Louise Daugherty Mode of inheritance for gene TSEN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 for gene: TSEN2
Severe Paediatric Disorders v0.8 TSC2 Louise Daugherty Mode of inheritance for gene TSC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Tuberous sclerosis-2, 613254 for gene: TSC2
Severe Paediatric Disorders v0.8 TSC1 Louise Daugherty Mode of inheritance for gene TSC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Tuberous sclerosis-1, 191100; Lymphangioleiomyomatosis, 606690 for gene: TSC1
Severe Paediatric Disorders v0.8 TRRAP Louise Daugherty Mode of inheritance for gene TRRAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
Severe Paediatric Disorders v0.8 TRPV6 Louise Daugherty Mode of inheritance for gene TRPV6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
Severe Paediatric Disorders v0.8 TRPV4 Louise Daugherty Mode of inheritance for gene TRPV4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.8 TRPS1 Louise Daugherty Mode of inheritance for gene TRPS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Trichorhinophalangeal syndrome, type I, 190350; Trichorhinophalangeal syndrome, type III, 190351 for gene: TRPS1
Severe Paediatric Disorders v0.8 TRPM6 Louise Daugherty Mode of inheritance for gene TRPM6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypomagnesemia 1, intestinal, 602014 for gene: TRPM6
Severe Paediatric Disorders v0.8 TRPM4 Louise Daugherty Mode of inheritance for gene TRPM4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.8 TRPM1 Louise Daugherty Mode of inheritance for gene TRPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
Severe Paediatric Disorders v0.8 TRPC6 Louise Daugherty Mode of inheritance for gene TRPC6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
Severe Paediatric Disorders v0.8 TRNT1 Louise Daugherty Mode of inheritance for gene TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.8 TRMU Louise Daugherty Mode of inheritance for gene TRMU was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Liver failure, transient infantile, 613070 for gene: TRMU
Severe Paediatric Disorders v0.8 TRMT5 Louise Daugherty Mode of inheritance for gene TRMT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 26, 616539 for gene: TRMT5
Severe Paediatric Disorders v0.8 TRMT10C Louise Daugherty Mode of inheritance for gene TRMT10C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Severe Paediatric Disorders v0.8 TRMT10A Louise Daugherty Mode of inheritance for gene TRMT10A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 for gene: TRMT10A
Severe Paediatric Disorders v0.8 TRMT1 Louise Daugherty Mode of inheritance for gene TRMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 68, 618302 for gene: TRMT1
Severe Paediatric Disorders v0.8 TRIT1 Louise Daugherty Mode of inheritance for gene TRIT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.8 TRIP4 Louise Daugherty Mode of inheritance for gene TRIP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
Severe Paediatric Disorders v0.8 TRIP12 Louise Daugherty Mode of inheritance for gene TRIP12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 49, 617752 for gene: TRIP12
Severe Paediatric Disorders v0.8 TRIP11 Louise Daugherty Mode of inheritance for gene TRIP11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600 for gene: TRIP11
Severe Paediatric Disorders v0.8 TRIOBP Louise Daugherty Mode of inheritance for gene TRIOBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
Severe Paediatric Disorders v0.8 TRIO Louise Daugherty Mode of inheritance for gene TRIO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 44, 617061 for gene: TRIO
Severe Paediatric Disorders v0.8 TRIM8 Louise Daugherty Mode of inheritance for gene TRIM8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Seizures; Global developmental delay; Intellectual disability for gene: TRIM8
Severe Paediatric Disorders v0.8 TRIM71 Louise Daugherty Mode of inheritance for gene TRIM71 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Congenital hydrocephalus for gene: TRIM71
Severe Paediatric Disorders v0.8 TRIM37 Louise Daugherty Mode of inheritance for gene TRIM37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mulibrey nanism, 253250 for gene: TRIM37
Severe Paediatric Disorders v0.8 TRIM32 Louise Daugherty Mode of inheritance for gene TRIM32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32
Severe Paediatric Disorders v0.8 TREX1 Louise Daugherty Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
Severe Paediatric Disorders v0.8 TREM2 Louise Daugherty Mode of inheritance for gene TREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
Severe Paediatric Disorders v0.8 TRAPPC9 Louise Daugherty Mode of inheritance for gene TRAPPC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.8 TRAPPC2 Louise Daugherty Mode of inheritance for gene TRAPPC2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
Severe Paediatric Disorders v0.8 TRAPPC12 Louise Daugherty Mode of inheritance for gene TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.8 TRAPPC11 Louise Daugherty Mode of inheritance for gene TRAPPC11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 for gene: TRAPPC11
Severe Paediatric Disorders v0.8 TRAP1 Louise Daugherty Mode of inheritance for gene TRAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CAKUT; VACTERL for gene: TRAP1
Severe Paediatric Disorders v0.8 TRAK1 Louise Daugherty Mode of inheritance for gene TRAK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
Severe Paediatric Disorders v0.8 TRAIP Louise Daugherty Mode of inheritance for gene TRAIP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Seckel syndrome 9, 616777 for gene: TRAIP
Severe Paediatric Disorders v0.8 TRAF7 Louise Daugherty Mode of inheritance for gene TRAF7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
Severe Paediatric Disorders v0.8 TRAF3IP1 Louise Daugherty Mode of inheritance for gene TRAF3IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome 9, 616629 for gene: TRAF3IP1
Severe Paediatric Disorders v0.8 TRAC Louise Daugherty Mode of inheritance for gene TRAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 for gene: TRAC
Severe Paediatric Disorders v0.8 TPRKB Louise Daugherty Mode of inheritance for gene TPRKB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Galloway-Mowat syndrome 5, 617731 for gene: TPRKB
Severe Paediatric Disorders v0.8 TPP2 Louise Daugherty Mode of inheritance for gene TPP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TPP2 deficiency for gene: TPP2
Severe Paediatric Disorders v0.8 TPP1 Louise Daugherty Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1
Severe Paediatric Disorders v0.8 TPO Louise Daugherty Mode of inheritance for gene TPO was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.8 TPM3 Louise Daugherty Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
Severe Paediatric Disorders v0.8 TPM2 Louise Daugherty Mode of inheritance for gene TPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.8 TPK1 Louise Daugherty Mode of inheritance for gene TPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Severe Paediatric Disorders v0.8 TPI1 Louise Daugherty Mode of inheritance for gene TPI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 for gene: TPI1
Severe Paediatric Disorders v0.8 TP63 Louise Daugherty Mode of inheritance for gene TP63 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.8 TP53RK Louise Daugherty Mode of inheritance for gene TP53RK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Galloway-Mowat syndrome 4, 617730 for gene: TP53RK
Severe Paediatric Disorders v0.8 TP53 Louise Daugherty Mode of inheritance for gene TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Bone marrow failure syndrome 5, 618165; Li-Fraumeni syndrome, 151623 for gene: TP53
Severe Paediatric Disorders v0.8 TOR1A Louise Daugherty Mode of inheritance for gene TOR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia-1, torsion, 128100 for gene: TOR1A
Severe Paediatric Disorders v0.8 TOP3A Louise Daugherty Mode of inheritance for gene TOP3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.8 TOE1 Louise Daugherty Mode of inheritance for gene TOE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia, type 7, 614969 for gene: TOE1
Severe Paediatric Disorders v0.8 TNS2 Louise Daugherty Mode of inheritance for gene TNS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes nephrotic syndrome for gene: TNS2
Severe Paediatric Disorders v0.8 TNNT3 Louise Daugherty Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.8 TNNT1 Louise Daugherty Mode of inheritance for gene TNNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
Severe Paediatric Disorders v0.8 TNNI2 Louise Daugherty Mode of inheritance for gene TNNI2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.8 TNFSF11 Louise Daugherty Mode of inheritance for gene TNFSF11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis, autosomal recessive 2, 259710 for gene: TNFSF11
Severe Paediatric Disorders v0.8 TNFRSF1A Louise Daugherty Mode of inheritance for gene TNFRSF1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Periodic fever, familial, 142680 for gene: TNFRSF1A
Severe Paediatric Disorders v0.8 TNFRSF13C Louise Daugherty Mode of inheritance for gene TNFRSF13C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency, common variable, 4, 613494 for gene: TNFRSF13C
Severe Paediatric Disorders v0.8 TNFRSF13B Louise Daugherty Mode of inheritance for gene TNFRSF13B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Immunoglobulin A deficiency 2, 609529; Immunodeficiency, common variable, 2, 240500 for gene: TNFRSF13B
Severe Paediatric Disorders v0.8 TNFRSF11B Louise Daugherty Mode of inheritance for gene TNFRSF11B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Paget disease of bone 5, juvenile-onset, 239000 for gene: TNFRSF11B
Severe Paediatric Disorders v0.8 TNFRSF11A Louise Daugherty Mode of inheritance for gene TNFRSF11A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.8 TNFAIP3 Louise Daugherty Mode of inheritance for gene TNFAIP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Autoinflammatory syndrome, familial, Behcet-like, 616744 for gene: TNFAIP3
Severe Paediatric Disorders v0.8 TMTC3 Louise Daugherty Mode of inheritance for gene TMTC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lissencephaly 8, 617255 for gene: TMTC3
Severe Paediatric Disorders v0.8 TMPRSS6 Louise Daugherty Mode of inheritance for gene TMPRSS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Iron-refractory iron deficiency anemia, 206200 for gene: TMPRSS6
Severe Paediatric Disorders v0.8 TMPRSS3 Louise Daugherty Mode of inheritance for gene TMPRSS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 8/10, 601072 for gene: TMPRSS3
Severe Paediatric Disorders v0.8 TMIE Louise Daugherty Mode of inheritance for gene TMIE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 6, 600971 for gene: TMIE
Severe Paediatric Disorders v0.8 TMEM94 Louise Daugherty Mode of inheritance for gene TMEM94 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.8 TMEM70 Louise Daugherty Mode of inheritance for gene TMEM70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
Severe Paediatric Disorders v0.8 TMEM67 Louise Daugherty Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.8 TMEM43 Louise Daugherty Mode of inheritance for gene TMEM43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
Severe Paediatric Disorders v0.8 TMEM38B Louise Daugherty Mode of inheritance for gene TMEM38B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
Severe Paediatric Disorders v0.8 TMEM240 Louise Daugherty Mode of inheritance for gene TMEM240 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spinocerebellar ataxia 21, 607454 for gene: TMEM240
Severe Paediatric Disorders v0.8 TMEM237 Louise Daugherty Mode of inheritance for gene TMEM237 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 14, 614424 for gene: TMEM237
Severe Paediatric Disorders v0.8 TMEM231 Louise Daugherty Mode of inheritance for gene TMEM231 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231
Severe Paediatric Disorders v0.8 TMEM216 Louise Daugherty Mode of inheritance for gene TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome 2, 603194; Joubert syndrome 2, 608091 for gene: TMEM216
Severe Paediatric Disorders v0.8 TMEM165 Louise Daugherty Mode of inheritance for gene TMEM165 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165
Severe Paediatric Disorders v0.8 TMEM138 Louise Daugherty Mode of inheritance for gene TMEM138 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 16, 614465 for gene: TMEM138
Severe Paediatric Disorders v0.8 TMEM126B Louise Daugherty Mode of inheritance for gene TMEM126B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 for gene: TMEM126B
Severe Paediatric Disorders v0.8 TMEM107 Louise Daugherty Mode of inheritance for gene TMEM107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orofaciodigital syndrome XVI, 617563; ?Joubert syndrome 29, 617562; Meckel syndrome 13, 617562 for gene: TMEM107
Severe Paediatric Disorders v0.8 TMCO1 Louise Daugherty Mode of inheritance for gene TMCO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 for gene: TMCO1
Severe Paediatric Disorders v0.8 TMC8 Louise Daugherty Mode of inheritance for gene TMC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8
Severe Paediatric Disorders v0.8 TMC6 Louise Daugherty Mode of inheritance for gene TMC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Severe Paediatric Disorders v0.8 TMC1 Louise Daugherty Mode of inheritance for gene TMC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal dominant 36, 606705; Deafness, autosomal recessive 7, 600974 for gene: TMC1
Severe Paediatric Disorders v0.8 TLR3 Louise Daugherty Mode of inheritance for gene TLR3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
Severe Paediatric Disorders v0.8 TLK2 Louise Daugherty Mode of inheritance for gene TLK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 57, 618050 for gene: TLK2
Severe Paediatric Disorders v0.8 TK2 Louise Daugherty Mode of inheritance for gene TK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
Severe Paediatric Disorders v0.8 TJP2 Louise Daugherty Mode of inheritance for gene TJP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.8 TINF2 Louise Daugherty Mode of inheritance for gene TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.8 TIMM8A Louise Daugherty Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Severe Paediatric Disorders v0.8 TIMM50 Louise Daugherty Mode of inheritance for gene TIMM50 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
Severe Paediatric Disorders v0.8 TICAM1 Louise Daugherty Mode of inheritance for gene TICAM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
Severe Paediatric Disorders v0.8 TIA1 Louise Daugherty Mode of inheritance for gene TIA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
Severe Paediatric Disorders v0.8 THRB Louise Daugherty Mode of inheritance for gene THRB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.8 THRA Louise Daugherty Mode of inheritance for gene THRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.8 THPO Louise Daugherty Mode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.8 THOC6 Louise Daugherty Mode of inheritance for gene THOC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
Severe Paediatric Disorders v0.8 THOC2 Louise Daugherty Mode of inheritance for gene THOC2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
Severe Paediatric Disorders v0.8 THBD Louise Daugherty Mode of inheritance for gene THBD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
Severe Paediatric Disorders v0.8 THAP1 Louise Daugherty Mode of inheritance for gene THAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
Severe Paediatric Disorders v0.8 TH Louise Daugherty Mode of inheritance for gene TH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
Severe Paediatric Disorders v0.8 TGM6 Louise Daugherty Mode of inheritance for gene TGM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spinocerebellar ataxia 35, 613908 for gene: TGM6
Severe Paediatric Disorders v0.8 TGM5 Louise Daugherty Mode of inheritance for gene TGM5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.8 TGM1 Louise Daugherty Mode of inheritance for gene TGM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.8 TGIF1 Louise Daugherty Mode of inheritance for gene TGIF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.8 TGFBR2 Louise Daugherty Mode of inheritance for gene TGFBR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 2, 610168 for gene: TGFBR2
Severe Paediatric Disorders v0.8 TGFBR1 Louise Daugherty Mode of inheritance for gene TGFBR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 1, 609192 for gene: TGFBR1
Severe Paediatric Disorders v0.8 TGFB3 Louise Daugherty Mode of inheritance for gene TGFB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.8 TGFB2 Louise Daugherty Mode of inheritance for gene TGFB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 4, 614816 for gene: TGFB2
Severe Paediatric Disorders v0.8 TGFB1 Louise Daugherty Mode of inheritance for gene TGFB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.8 TGDS Louise Daugherty Mode of inheritance for gene TGDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Catel-Manzke syndrome, 616145 for gene: TGDS
Severe Paediatric Disorders v0.8 TG Louise Daugherty Mode of inheritance for gene TG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.8 TFR2 Louise Daugherty Mode of inheritance for gene TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.8 TFG Louise Daugherty Mode of inheritance for gene TFG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.8 TFAP2B Louise Daugherty Mode of inheritance for gene TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Patent ductus arteriosus 2, 617035; Char syndrome, 169100 for gene: TFAP2B
Severe Paediatric Disorders v0.8 TFAP2A Louise Daugherty Mode of inheritance for gene TFAP2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Branchiooculofacial syndrome, 113620 for gene: TFAP2A
Severe Paediatric Disorders v0.8 TF Louise Daugherty Mode of inheritance for gene TF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Atransferrinemia, 209300 for gene: TF
Severe Paediatric Disorders v0.8 TERT Louise Daugherty Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.8 TERC Louise Daugherty Mode of inheritance for gene TERC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC
Severe Paediatric Disorders v0.8 TENM3 Louise Daugherty Mode of inheritance for gene TENM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
Severe Paediatric Disorders v0.8 TELO2 Louise Daugherty Mode of inheritance for gene TELO2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes You-Hoover-Fong syndrome, 616954 for gene: TELO2
Severe Paediatric Disorders v0.8 TEK Louise Daugherty Mode of inheritance for gene TEK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glaucoma 3, primary congenital, E, 617272; Venous malformations, multiple cutaneous and mucosal, 600195 for gene: TEK
Severe Paediatric Disorders v0.8 TECTA Louise Daugherty Mode of inheritance for gene TECTA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA
Severe Paediatric Disorders v0.8 TECPR2 Louise Daugherty Mode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.8 TCTN3 Louise Daugherty Mode of inheritance for gene TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 for gene: TCTN3
Severe Paediatric Disorders v0.8 TCTN2 Louise Daugherty Mode of inheritance for gene TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 24, 616654; ?Meckel syndrome 8, 613885 for gene: TCTN2
Severe Paediatric Disorders v0.8 TCTN1 Louise Daugherty Mode of inheritance for gene TCTN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 13, 614173 for gene: TCTN1
Severe Paediatric Disorders v0.8 TCTEX1D2 Louise Daugherty Mode of inheritance for gene TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.8 TCOF1 Louise Daugherty Mode of inheritance for gene TCOF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Treacher Collins syndrome 1, 154500 for gene: TCOF1
Severe Paediatric Disorders v0.8 TCN2 Louise Daugherty Mode of inheritance for gene TCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Transcobalamin II deficiency, 275350 for gene: TCN2
Severe Paediatric Disorders v0.8 TCIRG1 Louise Daugherty Mode of inheritance for gene TCIRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 for gene: TCIRG1
Severe Paediatric Disorders v0.8 TCF4 Louise Daugherty Mode of inheritance for gene TCF4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
Severe Paediatric Disorders v0.8 TCF3 Louise Daugherty Mode of inheritance for gene TCF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Agammaglobulinemia 8, autosomal dominant, 616941 for gene: TCF3
Severe Paediatric Disorders v0.8 TCF20 Louise Daugherty Mode of inheritance for gene TCF20 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
Severe Paediatric Disorders v0.8 TCF12 Louise Daugherty Mode of inheritance for gene TCF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.8 TCAP Louise Daugherty Mode of inheritance for gene TCAP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
Severe Paediatric Disorders v0.8 TBXAS1 Louise Daugherty Mode of inheritance for gene TBXAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ghosal hematodiaphyseal syndrome, 231095 for gene: TBXAS1
Severe Paediatric Disorders v0.8 TBXA2R Louise Daugherty Mode of inheritance for gene TBXA2R was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 for gene: TBXA2R
Severe Paediatric Disorders v0.8 TBX6 Louise Daugherty Mode of inheritance for gene TBX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spondylocostal dysostosis 5, 122600 for gene: TBX6
Severe Paediatric Disorders v0.8 TBX5 Louise Daugherty Mode of inheritance for gene TBX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holt-Oram syndrome, 142900 for gene: TBX5
Severe Paediatric Disorders v0.8 TBX4 Louise Daugherty Mode of inheritance for gene TBX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
Severe Paediatric Disorders v0.8 TBX3 Louise Daugherty Mode of inheritance for gene TBX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ulnar-mammary syndrome, 181450 for gene: TBX3
Severe Paediatric Disorders v0.8 TBX22 Louise Daugherty Mode of inheritance for gene TBX22 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.8 TBX20 Louise Daugherty Mode of inheritance for gene TBX20 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Atrial septal defect 4, 611363 for gene: TBX20
Severe Paediatric Disorders v0.8 TBX18 Louise Daugherty Mode of inheritance for gene TBX18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 for gene: TBX18
Severe Paediatric Disorders v0.8 TBX15 Louise Daugherty Mode of inheritance for gene TBX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cousin syndrome, 260660 for gene: TBX15
Severe Paediatric Disorders v0.8 TBX1 Louise Daugherty Mode of inheritance for gene TBX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1
Severe Paediatric Disorders v0.8 TBR1 Louise Daugherty Mode of inheritance for gene TBR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
Severe Paediatric Disorders v0.8 TBP Louise Daugherty Mode of inheritance for gene TBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spinocerebellar ataxia 17, 607136 for gene: TBP
Severe Paediatric Disorders v0.8 TBL1XR1 Louise Daugherty Mode of inheritance for gene TBL1XR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342 for gene: TBL1XR1
Severe Paediatric Disorders v0.8 TBK1 Louise Daugherty Mode of inheritance for gene TBK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.8 TBCK Louise Daugherty Mode of inheritance for gene TBCK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
Severe Paediatric Disorders v0.8 TBCE Louise Daugherty Mode of inheritance for gene TBCE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.8 TBCD Louise Daugherty Mode of inheritance for gene TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
Severe Paediatric Disorders v0.8 TBC1D24 Louise Daugherty Mode of inheritance for gene TBC1D24 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.8 TBC1D23 Louise Daugherty Mode of inheritance for gene TBC1D23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia, type 11, 617695 for gene: TBC1D23
Severe Paediatric Disorders v0.8 TBC1D20 Louise Daugherty Mode of inheritance for gene TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Warburg micro syndrome 4, 615663 for gene: TBC1D20
Severe Paediatric Disorders v0.8 TAZ Louise Daugherty Mode of inheritance for gene TAZ was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Barth syndrome, 302060 for gene: TAZ
Severe Paediatric Disorders v0.8 TAT Louise Daugherty Mode of inheritance for gene TAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.8 TARDBP Louise Daugherty Mode of inheritance for gene TARDBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.8 TAPT1 Louise Daugherty Mode of inheritance for gene TAPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
Severe Paediatric Disorders v0.8 TAPBP Louise Daugherty Mode of inheritance for gene TAPBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bare lymphocyte syndrome, type I, 604571 for gene: TAPBP
Severe Paediatric Disorders v0.8 TAP2 Louise Daugherty Mode of inheritance for gene TAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 for gene: TAP2
Severe Paediatric Disorders v0.8 TAP1 Louise Daugherty Mode of inheritance for gene TAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bare lymphocyte syndrome, type I, 604571 for gene: TAP1
Severe Paediatric Disorders v0.8 TANGO2 Louise Daugherty Mode of inheritance for gene TANGO2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
Severe Paediatric Disorders v0.8 TALDO1 Louise Daugherty Mode of inheritance for gene TALDO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Transaldolase deficiency, 606003 for gene: TALDO1
Severe Paediatric Disorders v0.8 TAF6 Louise Daugherty Mode of inheritance for gene TAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alazami-Yuan syndrome, 617126 for gene: TAF6
Severe Paediatric Disorders v0.8 TAF1 Louise Daugherty Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Severe Paediatric Disorders v0.8 TACO1 Louise Daugherty Mode of inheritance for gene TACO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: TACO1
Severe Paediatric Disorders v0.8 TAB2 Louise Daugherty Mode of inheritance for gene TAB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Congenital heart defects, nonsyndromic, 2, 614980 for gene: TAB2
Severe Paediatric Disorders v0.8 SZT2 Louise Daugherty Mode of inheritance for gene SZT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
Severe Paediatric Disorders v0.8 SYT1 Louise Daugherty Mode of inheritance for gene SYT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Baker-Gordon syndrome, 618218 for gene: SYT1
Severe Paediatric Disorders v0.8 SYP Louise Daugherty Mode of inheritance for gene SYP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked 96, 300802 for gene: SYP
Severe Paediatric Disorders v0.8 SYNJ1 Louise Daugherty Mode of inheritance for gene SYNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
Severe Paediatric Disorders v0.8 SYNGAP1 Louise Daugherty Mode of inheritance for gene SYNGAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 5, 612621 for gene: SYNGAP1
Severe Paediatric Disorders v0.8 SYNE1 Louise Daugherty Mode of inheritance for gene SYNE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.8 SYN1 Louise Daugherty Mode of inheritance for gene SYN1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.8 SUZ12 Louise Daugherty Mode of inheritance for gene SUZ12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
Severe Paediatric Disorders v0.8 SURF1 Louise Daugherty Mode of inheritance for gene SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
Severe Paediatric Disorders v0.8 SUOX Louise Daugherty Mode of inheritance for gene SUOX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX
Severe Paediatric Disorders v0.8 SUMF1 Louise Daugherty Mode of inheritance for gene SUMF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Multiple sulfatase deficiency, 272200 for gene: SUMF1
Severe Paediatric Disorders v0.8 SUCLG1 Louise Daugherty Mode of inheritance for gene SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
Severe Paediatric Disorders v0.8 SUCLA2 Louise Daugherty Mode of inheritance for gene SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Severe Paediatric Disorders v0.8 STXBP2 Louise Daugherty Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2
Severe Paediatric Disorders v0.8 STXBP1 Louise Daugherty Mode of inheritance for gene STXBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
Severe Paediatric Disorders v0.8 STX1B Louise Daugherty Mode of inheritance for gene STX1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
Severe Paediatric Disorders v0.8 STX11 Louise Daugherty Mode of inheritance for gene STX11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 for gene: STX11
Severe Paediatric Disorders v0.8 STUB1 Louise Daugherty Mode of inheritance for gene STUB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
Severe Paediatric Disorders v0.8 STS Louise Daugherty Mode of inheritance for gene STS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.8 STRC Louise Daugherty Mode of inheritance for gene STRC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 16, 603720 for gene: STRC
Severe Paediatric Disorders v0.8 STRADA Louise Daugherty Mode of inheritance for gene STRADA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.8 STRA6 Louise Daugherty Mode of inheritance for gene STRA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.8 STK4 Louise Daugherty Mode of inheritance for gene STK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 for gene: STK4
Severe Paediatric Disorders v0.8 STK11 Louise Daugherty Mode of inheritance for gene STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Peutz-Jeghers syndrome, 175200 for gene: STK11
Severe Paediatric Disorders v0.8 TMEM173 Louise Daugherty Mode of inheritance for gene TMEM173 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
Severe Paediatric Disorders v0.8 STIM1 Louise Daugherty Mode of inheritance for gene STIM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
Severe Paediatric Disorders v0.8 STIL Louise Daugherty Mode of inheritance for gene STIL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly 7, primary, autosomal recessive, 612703 for gene: STIL
Severe Paediatric Disorders v0.8 STAT5B Louise Daugherty Mode of inheritance for gene STAT5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
Severe Paediatric Disorders v0.8 STAT3 Louise Daugherty Mode of inheritance for gene STAT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hyper-IgE recurrent infection syndrome, 147060; Autoimmune disease, multisystem, infantile-onset, 1, 615952 for gene: STAT3
Severe Paediatric Disorders v0.8 STAT2 Louise Daugherty Mode of inheritance for gene STAT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 44, 616636 for gene: STAT2
Severe Paediatric Disorders v0.8 STAT1 Louise Daugherty Mode of inheritance for gene STAT1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1
Severe Paediatric Disorders v0.8 STAR Louise Daugherty Mode of inheritance for gene STAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lipoid adrenal hyperplasia, 201710 for gene: STAR
Severe Paediatric Disorders v0.8 STAMBP Louise Daugherty Mode of inheritance for gene STAMBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly-capillary malformation syndrome, 614261 for gene: STAMBP
Severe Paediatric Disorders v0.8 STAG2 Louise Daugherty Mode of inheritance for gene STAG2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mullegama-Klein-Martinez syndrome, 301022 for gene: STAG2
Severe Paediatric Disorders v0.8 STAG1 Louise Daugherty Mode of inheritance for gene STAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 47, 617635 for gene: STAG1
Severe Paediatric Disorders v0.8 STAC3 Louise Daugherty Mode of inheritance for gene STAC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
Severe Paediatric Disorders v0.8 ST3GAL5 Louise Daugherty Mode of inheritance for gene ST3GAL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Salt and pepper developmental regression syndrome, 609056 for gene: ST3GAL5
Severe Paediatric Disorders v0.8 ST3GAL3 Louise Daugherty Mode of inheritance for gene ST3GAL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
Severe Paediatric Disorders v0.8 SSR4 Louise Daugherty Mode of inheritance for gene SSR4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
Severe Paediatric Disorders v0.8 SRY Louise Daugherty Mode of inheritance for gene SRY was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes 46XX sex reversal 1, 400045; 46XY sex reversal 1, 400044 for gene: SRY
Severe Paediatric Disorders v0.8 SRD5A3 Louise Daugherty Mode of inheritance for gene SRD5A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379 for gene: SRD5A3
Severe Paediatric Disorders v0.8 SRD5A2 Louise Daugherty Mode of inheritance for gene SRD5A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pseudovaginal perineoscrotal hypospadias, 264600 for gene: SRD5A2
Severe Paediatric Disorders v0.8 SRCAP Louise Daugherty Mode of inheritance for gene SRCAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP
Severe Paediatric Disorders v0.8 SRC Louise Daugherty Mode of inheritance for gene SRC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.8 SQSTM1 Louise Daugherty Mode of inheritance for gene SQSTM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.8 SPTLC2 Louise Daugherty Mode of inheritance for gene SPTLC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Severe Paediatric Disorders v0.8 SPTLC1 Louise Daugherty Mode of inheritance for gene SPTLC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
Severe Paediatric Disorders v0.8 SPTBN4 Louise Daugherty Mode of inheritance for gene SPTBN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
Severe Paediatric Disorders v0.8 SPTBN2 Louise Daugherty Mode of inheritance for gene SPTBN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
Severe Paediatric Disorders v0.8 SPTB Louise Daugherty Mode of inheritance for gene SPTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
Severe Paediatric Disorders v0.8 SPTAN1 Louise Daugherty Mode of inheritance for gene SPTAN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
Severe Paediatric Disorders v0.8 SPTA1 Louise Daugherty Mode of inheritance for gene SPTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1
Severe Paediatric Disorders v0.8 SPRED1 Louise Daugherty Mode of inheritance for gene SPRED1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Legius syndrome, 611431 for gene: SPRED1
Severe Paediatric Disorders v0.8 SPR Louise Daugherty Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR
Severe Paediatric Disorders v0.8 SPPL2A Louise Daugherty Mode of inheritance for gene SPPL2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
Severe Paediatric Disorders v0.8 SPINK5 Louise Daugherty Mode of inheritance for gene SPINK5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
Severe Paediatric Disorders v0.8 SPG7 Louise Daugherty Mode of inheritance for gene SPG7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.8 SPG21 Louise Daugherty Mode of inheritance for gene SPG21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mast syndrome, 248900 for gene: SPG21
Severe Paediatric Disorders v0.8 SPG11 Louise Daugherty Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.8 SPEG Louise Daugherty Mode of inheritance for gene SPEG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
Severe Paediatric Disorders v0.8 SPECC1L Louise Daugherty Mode of inheritance for gene SPECC1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Opitz GBBB syndrome, type II, 145410; ?Facial clefting, oblique, 1, 600251; Hypertelorism, Teebi type, 145420 for gene: SPECC1L
Severe Paediatric Disorders v0.8 SPATA5 Louise Daugherty Mode of inheritance for gene SPATA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 for gene: SPATA5
Severe Paediatric Disorders v0.8 SPAST Louise Daugherty Mode of inheritance for gene SPAST was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
Severe Paediatric Disorders v0.8 SPART Louise Daugherty Mode of inheritance for gene SPART was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Troyer syndrome, 275900 for gene: SPART
Severe Paediatric Disorders v0.8 SPAG1 Louise Daugherty Mode of inheritance for gene SPAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.8 SP110 Louise Daugherty Mode of inheritance for gene SP110 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.8 SOX9 Louise Daugherty Mode of inheritance for gene SOX9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
Severe Paediatric Disorders v0.8 SOX5 Louise Daugherty Mode of inheritance for gene SOX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Lamb-Shaffer syndrome, 616803 for gene: SOX5
Severe Paediatric Disorders v0.8 SOX4 Louise Daugherty Mode of inheritance for gene SOX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Coffin-Siris syndrome 10, 618506 for gene: SOX4
Severe Paediatric Disorders v0.8 SOX3 Louise Daugherty Mode of inheritance for gene SOX3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
Severe Paediatric Disorders v0.8 SOX2 Louise Daugherty Mode of inheritance for gene SOX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
Severe Paediatric Disorders v0.8 SOX17 Louise Daugherty Mode of inheritance for gene SOX17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17
Severe Paediatric Disorders v0.8 SOX11 Louise Daugherty Mode of inheritance for gene SOX11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Coffin-Siris syndrome 9, 615866 for gene: SOX11
Severe Paediatric Disorders v0.8 SOX10 Louise Daugherty Mode of inheritance for gene SOX10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
Severe Paediatric Disorders v0.8 SOST Louise Daugherty Mode of inheritance for gene SOST was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; Van Buchem disease, 239100 for gene: SOST
Severe Paediatric Disorders v0.8 SOS2 Louise Daugherty Mode of inheritance for gene SOS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome 9, 616559 for gene: SOS2
Severe Paediatric Disorders v0.8 SOS1 Louise Daugherty Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome 4, 610733 for gene: SOS1
Severe Paediatric Disorders v0.8 SON Louise Daugherty Mode of inheritance for gene SON was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ZTTK syndrome, 617140 for gene: SON
Severe Paediatric Disorders v0.8 SNX14 Louise Daugherty Mode of inheritance for gene SNX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14
Severe Paediatric Disorders v0.8 SNX10 Louise Daugherty Mode of inheritance for gene SNX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis, autosomal recessive 8, 615085 for gene: SNX10
Severe Paediatric Disorders v0.8 SNRPB Louise Daugherty Mode of inheritance for gene SNRPB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cerebrocostomandibular syndrome, 117650 for gene: SNRPB
Severe Paediatric Disorders v0.8 SNORD118 Louise Daugherty Mode of inheritance for gene SNORD118 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.8 SNCA Louise Daugherty Mode of inheritance for gene SNCA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Parkinson disease 1, 168601; Dementia, Lewy body, 127750; Parkinson disease 4, 605543 for gene: SNCA
Severe Paediatric Disorders v0.8 SNAP29 Louise Daugherty Mode of inheritance for gene SNAP29 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
Severe Paediatric Disorders v0.8 SMS Louise Daugherty Mode of inheritance for gene SMS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
Severe Paediatric Disorders v0.8 SMPX Louise Daugherty Mode of inheritance for gene SMPX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX
Severe Paediatric Disorders v0.8 SMPD1 Louise Daugherty Mode of inheritance for gene SMPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Niemann-Pick disease, type B, 607616; Niemann-Pick disease, type A, 257200 for gene: SMPD1
Severe Paediatric Disorders v0.8 SMOC1 Louise Daugherty Mode of inheritance for gene SMOC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.8 SMN1 Louise Daugherty Mode of inheritance for gene SMN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-1, 253300 for gene: SMN1
Severe Paediatric Disorders v0.8 SMCHD1 Louise Daugherty Mode of inheritance for gene SMCHD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.8 SMC3 Louise Daugherty Mode of inheritance for gene SMC3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cornelia de Lange syndrome 3, 610759 for gene: SMC3
Severe Paediatric Disorders v0.8 SMC1A Louise Daugherty Mode of inheritance for gene SMC1A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A
Severe Paediatric Disorders v0.8 SMARCE1 Louise Daugherty Mode of inheritance for gene SMARCE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Coffin-Siris syndrome 5, 616938 for gene: SMARCE1
Severe Paediatric Disorders v0.8 SMARCD1 Louise Daugherty Mode of inheritance for gene SMARCD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
Severe Paediatric Disorders v0.8 SMARCC2 Louise Daugherty Mode of inheritance for gene SMARCC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Coffin-Siris syndrome 8, 618362 for gene: SMARCC2
Severe Paediatric Disorders v0.8 SMARCB1 Louise Daugherty Mode of inheritance for gene SMARCB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.8 SMARCAL1 Louise Daugherty Mode of inheritance for gene SMARCAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Schimke immunoosseous dysplasia, 242900 for gene: SMARCAL1
Severe Paediatric Disorders v0.8 SMARCA4 Louise Daugherty Mode of inheritance for gene SMARCA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Coffin-Siris syndrome 4, 614609 for gene: SMARCA4
Severe Paediatric Disorders v0.8 SMARCA2 Louise Daugherty Mode of inheritance for gene SMARCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Nicolaides-Baraitser syndrome, 601358 for gene: SMARCA2
Severe Paediatric Disorders v0.8 SMAD4 Louise Daugherty Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.8 SMAD3 Louise Daugherty Mode of inheritance for gene SMAD3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 3, 613795 for gene: SMAD3
Severe Paediatric Disorders v0.8 SLX4 Louise Daugherty Mode of inheritance for gene SLX4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4
Severe Paediatric Disorders v0.8 SLFN14 Louise Daugherty Mode of inheritance for gene SLFN14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
Severe Paediatric Disorders v0.8 SLCO2A1 Louise Daugherty Mode of inheritance for gene SLCO2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Mode of inheritance for gene SLC9A6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.8 SLC7A9 Louise Daugherty Mode of inheritance for gene SLC7A9 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cystinuria, 220100 for gene: SLC7A9
Severe Paediatric Disorders v0.8 SLC7A7 Louise Daugherty Mode of inheritance for gene SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lysinuric protein intolerance, 222700 for gene: SLC7A7
Severe Paediatric Disorders v0.8 SLC6A9 Louise Daugherty Mode of inheritance for gene SLC6A9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
Severe Paediatric Disorders v0.8 SLC6A8 Louise Daugherty Mode of inheritance for gene SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
Severe Paediatric Disorders v0.8 SLC6A5 Louise Daugherty Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Severe Paediatric Disorders v0.8 SLC6A3 Louise Daugherty Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.8 SLC6A20 Louise Daugherty Mode of inheritance for gene SLC6A20 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.8 SLC6A19 Louise Daugherty Mode of inheritance for gene SLC6A19 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.8 SLC6A17 Louise Daugherty Mode of inheritance for gene SLC6A17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
Severe Paediatric Disorders v0.8 SLC6A1 Louise Daugherty Mode of inheritance for gene SLC6A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Myoclonic-atonic epilepsy, 616421 for gene: SLC6A1
Severe Paediatric Disorders v0.8 SLC5A7 Louise Daugherty Mode of inheritance for gene SLC5A7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
Severe Paediatric Disorders v0.8 SLC5A5 Louise Daugherty Mode of inheritance for gene SLC5A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.8 SLC5A2 Louise Daugherty Mode of inheritance for gene SLC5A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Renal glucosuria, 233100 for gene: SLC5A2
Severe Paediatric Disorders v0.8 SLC5A1 Louise Daugherty Mode of inheritance for gene SLC5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glucose/galactose malabsorption, 606824 for gene: SLC5A1
Severe Paediatric Disorders v0.8 SLC52A3 Louise Daugherty Mode of inheritance for gene SLC52A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Fazio-Londe disease, 211500; Brown-Vialetto-Van Laere syndrome 1, 211530 for gene: SLC52A3
Severe Paediatric Disorders v0.8 SLC52A2 Louise Daugherty Mode of inheritance for gene SLC52A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 for gene: SLC52A2
Severe Paediatric Disorders v0.8 SLC4A4 Louise Daugherty Mode of inheritance for gene SLC4A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
Severe Paediatric Disorders v0.8 SLC4A11 Louise Daugherty Mode of inheritance for gene SLC4A11 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
Severe Paediatric Disorders v0.8 SLC4A1 Louise Daugherty Mode of inheritance for gene SLC4A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
Severe Paediatric Disorders v0.8 SLC46A1 Louise Daugherty Mode of inheritance for gene SLC46A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Severe Paediatric Disorders v0.8 SLC45A2 Louise Daugherty Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Albinism, oculocutaneous, type IV, 606574 for gene: SLC45A2
Severe Paediatric Disorders v0.8 SLC40A1 Louise Daugherty Mode of inheritance for gene SLC40A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.8 SLC3A1 Louise Daugherty Mode of inheritance for gene SLC3A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cystinuria, 220100 for gene: SLC3A1
Severe Paediatric Disorders v0.8 SLC39A8 Louise Daugherty Mode of inheritance for gene SLC39A8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIn, 616721 for gene: SLC39A8
Severe Paediatric Disorders v0.8 SLC39A4 Louise Daugherty Mode of inheritance for gene SLC39A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
Severe Paediatric Disorders v0.8 SLC39A14 Louise Daugherty Mode of inheritance for gene SLC39A14 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.8 SLC39A13 Louise Daugherty Mode of inheritance for gene SLC39A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 for gene: SLC39A13
Severe Paediatric Disorders v0.8 SLC37A4 Louise Daugherty Mode of inheritance for gene SLC37A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease Ib, 232220; Glycogen storage disease Ic, 232240 for gene: SLC37A4
Severe Paediatric Disorders v0.8 SLC35D1 Louise Daugherty Mode of inheritance for gene SLC35D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Schneckenbecken dysplasia, 269250 for gene: SLC35D1
Severe Paediatric Disorders v0.8 SLC35C1 Louise Daugherty Mode of inheritance for gene SLC35C1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIc, 266265 for gene: SLC35C1
Severe Paediatric Disorders v0.8 SLC35A2 Louise Daugherty Mode of inheritance for gene SLC35A2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
Severe Paediatric Disorders v0.8 SLC35A1 Louise Daugherty Mode of inheritance for gene SLC35A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIf, 603585 for gene: SLC35A1
Severe Paediatric Disorders v0.8 SLC34A3 Louise Daugherty Mode of inheritance for gene SLC34A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
Severe Paediatric Disorders v0.8 SLC34A2 Louise Daugherty Mode of inheritance for gene SLC34A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
Severe Paediatric Disorders v0.8 SLC33A1 Louise Daugherty Mode of inheritance for gene SLC33A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1
Severe Paediatric Disorders v0.8 SLC30A10 Louise Daugherty Mode of inheritance for gene SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
Severe Paediatric Disorders v0.8 SLC2A2 Louise Daugherty Mode of inheritance for gene SLC2A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi-Bickel syndrome, 227810 for gene: SLC2A2
Severe Paediatric Disorders v0.8 SLC2A10 Louise Daugherty Mode of inheritance for gene SLC2A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10
Severe Paediatric Disorders v0.8 SLC2A1 Louise Daugherty Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
Severe Paediatric Disorders v0.8 SLC29A3 Louise Daugherty Mode of inheritance for gene SLC29A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
Severe Paediatric Disorders v0.8 SLC27A4 Louise Daugherty Mode of inheritance for gene SLC27A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
Severe Paediatric Disorders v0.8 SLC26A4 Louise Daugherty Mode of inheritance for gene SLC26A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
Severe Paediatric Disorders v0.8 SLC26A3 Louise Daugherty Mode of inheritance for gene SLC26A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Diarrhea 1, secretory chloride, congenital, 214700 for gene: SLC26A3
Severe Paediatric Disorders v0.8 SLC26A2 Louise Daugherty Mode of inheritance for gene SLC26A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.8 SLC25A46 Louise Daugherty Mode of inheritance for gene SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Severe Paediatric Disorders v0.8 SLC25A42 Louise Daugherty Mode of inheritance for gene SLC25A42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
Severe Paediatric Disorders v0.8 SLC25A4 Louise Daugherty Mode of inheritance for gene SLC25A4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
Severe Paediatric Disorders v0.8 SLC25A38 Louise Daugherty Mode of inheritance for gene SLC25A38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
Severe Paediatric Disorders v0.8 SLC25A3 Louise Daugherty Mode of inheritance for gene SLC25A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial phosphate carrier deficiency, 610773 for gene: SLC25A3
Severe Paediatric Disorders v0.8 SLC25A26 Louise Daugherty Mode of inheritance for gene SLC25A26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 28, 616794 for gene: SLC25A26
Severe Paediatric Disorders v0.8 SLC25A24 Louise Daugherty Mode of inheritance for gene SLC25A24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Fontaine progeroid syndrome, 612289 for gene: SLC25A24
Severe Paediatric Disorders v0.8 SLC25A22 Louise Daugherty Mode of inheritance for gene SLC25A22 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
Severe Paediatric Disorders v0.8 SLC25A20 Louise Daugherty Mode of inheritance for gene SLC25A20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Carnitine-acylcarnitine translocase deficiency, 212138 for gene: SLC25A20
Severe Paediatric Disorders v0.8 SLC25A19 Louise Daugherty Mode of inheritance for gene SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.8 SLC25A15 Louise Daugherty Mode of inheritance for gene SLC25A15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
Severe Paediatric Disorders v0.8 SLC25A13 Louise Daugherty Mode of inheritance for gene SLC25A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
Severe Paediatric Disorders v0.8 SLC25A12 Louise Daugherty Mode of inheritance for gene SLC25A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
Severe Paediatric Disorders v0.8 SLC25A1 Louise Daugherty Mode of inheritance for gene SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
Severe Paediatric Disorders v0.8 SLC22A5 Louise Daugherty Mode of inheritance for gene SLC22A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Carnitine deficiency, systemic primary, 212140 for gene: SLC22A5
Severe Paediatric Disorders v0.8 SLC20A2 Louise Daugherty Mode of inheritance for gene SLC20A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
Severe Paediatric Disorders v0.8 SLC1A4 Louise Daugherty Mode of inheritance for gene SLC1A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.8 SLC1A3 Louise Daugherty Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Episodic ataxia, type 6, 612656 for gene: SLC1A3
Severe Paediatric Disorders v0.8 SLC1A2 Louise Daugherty Mode of inheritance for gene SLC1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
Severe Paediatric Disorders v0.8 SLC19A3 Louise Daugherty Mode of inheritance for gene SLC19A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.8 SLC19A2 Louise Daugherty Mode of inheritance for gene SLC19A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
Severe Paediatric Disorders v0.8 SLC18A3 Louise Daugherty Mode of inheritance for gene SLC18A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
Severe Paediatric Disorders v0.8 SLC17A5 Louise Daugherty Mode of inheritance for gene SLC17A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sialic acid storage disorder, infantile, 269920; Salla disease, 604369 for gene: SLC17A5
Severe Paediatric Disorders v0.8 SLC16A2 Louise Daugherty Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Severe Paediatric Disorders v0.8 SLC16A1 Louise Daugherty Mode of inheritance for gene SLC16A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.8 SLC13A5 Louise Daugherty Mode of inheritance for gene SLC13A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
Severe Paediatric Disorders v0.8 SLC12A6 Louise Daugherty Mode of inheritance for gene SLC12A6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
Severe Paediatric Disorders v0.8 SLC12A5 Louise Daugherty Mode of inheritance for gene SLC12A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
Severe Paediatric Disorders v0.8 SLC12A3 Louise Daugherty Mode of inheritance for gene SLC12A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Gitelman syndrome, 263800 for gene: SLC12A3
Severe Paediatric Disorders v0.8 SLC12A1 Louise Daugherty Mode of inheritance for gene SLC12A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bartter syndrome, type 1, 601678 for gene: SLC12A1
Severe Paediatric Disorders v0.8 SLC11A2 Louise Daugherty Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Severe Paediatric Disorders v0.8 SLC10A7 Louise Daugherty Mode of inheritance for gene SLC10A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
Severe Paediatric Disorders v0.8 SKIV2L Louise Daugherty Mode of inheritance for gene SKIV2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 2, 614602 for gene: SKIV2L
Severe Paediatric Disorders v0.8 SKI Louise Daugherty Mode of inheritance for gene SKI was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI
Severe Paediatric Disorders v0.8 SIX5 Louise Daugherty Mode of inheritance for gene SIX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
Severe Paediatric Disorders v0.8 SIX3 Louise Daugherty Mode of inheritance for gene SIX3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Holoprosencephaly 2, 157170; Schizencephaly, 269160 for gene: SIX3
Severe Paediatric Disorders v0.8 SIX1 Louise Daugherty Mode of inheritance for gene SIX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Branchiootic syndrome 3, 608389; Deafness, autosomal dominant 23, 605192 for gene: SIX1
Severe Paediatric Disorders v0.8 SIN3A Louise Daugherty Mode of inheritance for gene SIN3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Witteveen-Kolk syndrome, 613406 for gene: SIN3A
Severe Paediatric Disorders v0.8 SIL1 Louise Daugherty Mode of inheritance for gene SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1
Severe Paediatric Disorders v0.8 SIK1 Louise Daugherty Mode of inheritance for gene SIK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
Severe Paediatric Disorders v0.8 SI Louise Daugherty Mode of inheritance for gene SI was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sucrase-isomaltase deficiency, congenital, 222900 for gene: SI
Severe Paediatric Disorders v0.8 SHOX Louise Daugherty Mode of inheritance for gene SHOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
Severe Paediatric Disorders v0.8 SHOC2 Louise Daugherty Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
Severe Paediatric Disorders v0.8 SHH Louise Daugherty Mode of inheritance for gene SHH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
Severe Paediatric Disorders v0.8 SHANK3 Louise Daugherty Mode of inheritance for gene SHANK3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Phelan-McDermid syndrome, 606232 for gene: SHANK3
Severe Paediatric Disorders v0.8 SHANK2 Louise Daugherty Mode of inheritance for gene SHANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes {Autism susceptibility 17}, 613436 for gene: SHANK2
Severe Paediatric Disorders v0.8 SH3TC2 Louise Daugherty Mode of inheritance for gene SH3TC2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
Severe Paediatric Disorders v0.8 SH3PXD2B Louise Daugherty Mode of inheritance for gene SH3PXD2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Frank-ter Haar syndrome, 249420 for gene: SH3PXD2B
Severe Paediatric Disorders v0.8 SH3BP2 Louise Daugherty Mode of inheritance for gene SH3BP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cherubism, 118400 for gene: SH3BP2
Severe Paediatric Disorders v0.8 SH2D1A Louise Daugherty Mode of inheritance for gene SH2D1A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240 for gene: SH2D1A
Severe Paediatric Disorders v0.8 SGSH Louise Daugherty Mode of inheritance for gene SGSH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 for gene: SGSH
Severe Paediatric Disorders v0.8 SGPL1 Louise Daugherty Mode of inheritance for gene SGPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephrotic syndrome, type 14, 617575 for gene: SGPL1
Severe Paediatric Disorders v0.8 SGCG Louise Daugherty Mode of inheritance for gene SGCG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 for gene: SGCG
Severe Paediatric Disorders v0.8 SGCE Louise Daugherty Mode of inheritance for gene SGCE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia-11, myoclonic, 159900 for gene: SGCE
Severe Paediatric Disorders v0.8 SGCD Louise Daugherty Mode of inheritance for gene SGCD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.8 SGCB Louise Daugherty Mode of inheritance for gene SGCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 for gene: SGCB
Severe Paediatric Disorders v0.8 SGCA Louise Daugherty Mode of inheritance for gene SGCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 for gene: SGCA
Severe Paediatric Disorders v0.8 SFXN4 Louise Daugherty Mode of inheritance for gene SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.8 SFTPB Louise Daugherty Mode of inheritance for gene SFTPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 for gene: SFTPB
Severe Paediatric Disorders v0.8 SFRP4 Louise Daugherty Mode of inheritance for gene SFRP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pyle disease, 265900 for gene: SFRP4
Severe Paediatric Disorders v0.8 SF3B4 Louise Daugherty Mode of inheritance for gene SF3B4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
Severe Paediatric Disorders v0.8 SETX Louise Daugherty Mode of inheritance for gene SETX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.8 SETD5 Louise Daugherty Mode of inheritance for gene SETD5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 23, 615761 for gene: SETD5
Severe Paediatric Disorders v0.8 SETD2 Louise Daugherty Mode of inheritance for gene SETD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Luscan-Lumish syndrome, 616831 for gene: SETD2
Severe Paediatric Disorders v0.8 SETD1B Louise Daugherty Mode of inheritance for gene SETD1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B
Severe Paediatric Disorders v0.8 SETBP1 Louise Daugherty Mode of inheritance for gene SETBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.8 SET Louise Daugherty Mode of inheritance for gene SET was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 58, 618106 for gene: SET
Severe Paediatric Disorders v0.8 SERPINH1 Louise Daugherty Mode of inheritance for gene SERPINH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Severe Paediatric Disorders v0.8 SERPING1 Louise Daugherty Mode of inheritance for gene SERPING1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Complement component 4, partial deficiency of, 120790; Angioedema, hereditary, types I and II, 106100 for gene: SERPING1
Severe Paediatric Disorders v0.8 SERPINF2 Louise Daugherty Mode of inheritance for gene SERPINF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 for gene: SERPINF2
Severe Paediatric Disorders v0.8 SERPINF1 Louise Daugherty Mode of inheritance for gene SERPINF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.8 SERPINE1 Louise Daugherty Mode of inheritance for gene SERPINE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 for gene: SERPINE1
Severe Paediatric Disorders v0.8 SERAC1 Louise Daugherty Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Severe Paediatric Disorders v0.8 SEPT9 Louise Daugherty Mode of inheritance for gene SEPT9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.8 SEPSECS Louise Daugherty Mode of inheritance for gene SEPSECS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS
Severe Paediatric Disorders v0.8 SELENON Louise Daugherty Mode of inheritance for gene SELENON was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
Severe Paediatric Disorders v0.8 SEC24D Louise Daugherty Mode of inheritance for gene SEC24D was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cole-Carpenter syndrome 2, 616294 for gene: SEC24D
Severe Paediatric Disorders v0.8 SEC23B Louise Daugherty Mode of inheritance for gene SEC23B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.8 SDHD Louise Daugherty Mode of inheritance for gene SDHD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.8 SDHB Louise Daugherty Mode of inheritance for gene SDHB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.8 SDHAF1 Louise Daugherty Mode of inheritance for gene SDHAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Severe Paediatric Disorders v0.8 SDHA Louise Daugherty Mode of inheritance for gene SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.8 SDCCAG8 Louise Daugherty Mode of inheritance for gene SDCCAG8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Severe Paediatric Disorders v0.8 SCO2 Louise Daugherty Mode of inheritance for gene SCO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
Severe Paediatric Disorders v0.8 SCO1 Louise Daugherty Mode of inheritance for gene SCO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: SCO1
Severe Paediatric Disorders v0.8 SCNN1B Louise Daugherty Mode of inheritance for gene SCNN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
Severe Paediatric Disorders v0.8 SCNN1A Louise Daugherty Mode of inheritance for gene SCNN1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
Severe Paediatric Disorders v0.8 SCN9A Louise Daugherty Mode of inheritance for gene SCN9A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
Severe Paediatric Disorders v0.8 SCN8A Louise Daugherty Mode of inheritance for gene SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
Severe Paediatric Disorders v0.8 SCN4A Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.8 SCN3A Louise Daugherty Mode of inheritance for gene SCN3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
Severe Paediatric Disorders v0.8 SCN2A Louise Daugherty Mode of inheritance for gene SCN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
Severe Paediatric Disorders v0.8 SCN1B Louise Daugherty Mode of inheritance for gene SCN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.8 SCN1A Louise Daugherty Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
Severe Paediatric Disorders v0.8 SCN11A Louise Daugherty Mode of inheritance for gene SCN11A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
Severe Paediatric Disorders v0.8 SCLT1 Louise Daugherty Mode of inheritance for gene SCLT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Oro-facio-digital syndrome type IX for gene: SCLT1
Severe Paediatric Disorders v0.8 SCARF2 Louise Daugherty Mode of inheritance for gene SCARF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Van den Ende-Gupta syndrome, 600920 for gene: SCARF2
Severe Paediatric Disorders v0.8 SCARB2 Louise Daugherty Mode of inheritance for gene SCARB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
Severe Paediatric Disorders v0.8 SCAPER Louise Daugherty Mode of inheritance for gene SCAPER was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Intellectual developmental disorder and retinitis pigmentosa, 618195 for gene: SCAPER
Severe Paediatric Disorders v0.8 SC5D Louise Daugherty Mode of inheritance for gene SC5D was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.8 SBF2 Louise Daugherty Mode of inheritance for gene SBF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.8 SBF1 Louise Daugherty Mode of inheritance for gene SBF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
Severe Paediatric Disorders v0.8 SBDS Louise Daugherty Mode of inheritance for gene SBDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
Severe Paediatric Disorders v0.8 SATB2 Louise Daugherty Mode of inheritance for gene SATB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glass syndrome, 612313 for gene: SATB2
Severe Paediatric Disorders v0.8 SARS2 Louise Daugherty Mode of inheritance for gene SARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 for gene: SARS2
Severe Paediatric Disorders v0.8 SAR1B Louise Daugherty Mode of inheritance for gene SAR1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Chylomicron retention disease, 246700 for gene: SAR1B
Severe Paediatric Disorders v0.8 SAMHD1 Louise Daugherty Mode of inheritance for gene SAMHD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 5, 612952; ?Chilblain lupus 2, 614415 for gene: SAMHD1
Severe Paediatric Disorders v0.8 SAMD9L Louise Daugherty Mode of inheritance for gene SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
Severe Paediatric Disorders v0.8 SAMD9 Louise Daugherty Mode of inheritance for gene SAMD9 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455; MIRAGE syndrome, 617053 for gene: SAMD9
Severe Paediatric Disorders v0.8 SAMD12 Louise Daugherty Mode of inheritance for gene SAMD12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epilepsy, familial adult myoclonic, 1, 601068 for gene: SAMD12
Severe Paediatric Disorders v0.8 SALL4 Louise Daugherty Mode of inheritance for gene SALL4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes IVIC syndrome, 147750; Duane-radial ray syndrome, 607323 for gene: SALL4
Severe Paediatric Disorders v0.8 SALL1 Louise Daugherty Mode of inheritance for gene SALL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome 1, 107480 for gene: SALL1
Severe Paediatric Disorders v0.8 SACS Louise Daugherty Mode of inheritance for gene SACS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Severe Paediatric Disorders v0.8 RYR2 Louise Daugherty Mode of inheritance for gene RYR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
Severe Paediatric Disorders v0.8 RYR1 Louise Daugherty Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
Severe Paediatric Disorders v0.8 TMEM5 Louise Daugherty Mode of inheritance for gene TMEM5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
Severe Paediatric Disorders v0.8 RUNX2 Louise Daugherty Mode of inheritance for gene RUNX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.8 RUNX1 Louise Daugherty Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.8 RTTN Louise Daugherty Mode of inheritance for gene RTTN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
Severe Paediatric Disorders v0.8 RTN4IP1 Louise Daugherty Mode of inheritance for gene RTN4IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
Severe Paediatric Disorders v0.8 RTN2 Louise Daugherty Mode of inheritance for gene RTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Severe Paediatric Disorders v0.8 RTEL1 Louise Daugherty Mode of inheritance for gene RTEL1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.8 RSPO4 Louise Daugherty Mode of inheritance for gene RSPO4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anonychia congenita, 206800 for gene: RSPO4
Severe Paediatric Disorders v0.8 RSPH9 Louise Daugherty Mode of inheritance for gene RSPH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.8 RSPH4A Louise Daugherty Mode of inheritance for gene RSPH4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.8 RSPH3 Louise Daugherty Mode of inheritance for gene RSPH3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.8 RSPH1 Louise Daugherty Mode of inheritance for gene RSPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.7 PMS2 Louise Daugherty Source Next Generation Children Project was added to PMS2.
Severe Paediatric Disorders v0.7 VPS35 Louise Daugherty Source Next Generation Children Project was added to VPS35.
Severe Paediatric Disorders v0.7 TRAF3IP2 Louise Daugherty Source Next Generation Children Project was added to TRAF3IP2.
Severe Paediatric Disorders v0.7 TNFSF12 Louise Daugherty Source Next Generation Children Project was added to TNFSF12.
Severe Paediatric Disorders v0.7 TNFRSF4 Louise Daugherty Source Next Generation Children Project was added to TNFRSF4.
Severe Paediatric Disorders v0.7 SMO Louise Daugherty Source Next Generation Children Project was added to SMO.
Severe Paediatric Disorders v0.7 SIM1 Louise Daugherty Source Next Generation Children Project was added to SIM1.
Severe Paediatric Disorders v0.7 SART3 Louise Daugherty Source Next Generation Children Project was added to SART3.
Severe Paediatric Disorders v0.7 RPS15 Louise Daugherty Source Next Generation Children Project was added to RPS15.
Severe Paediatric Disorders v0.7 RNF31 Louise Daugherty Source Next Generation Children Project was added to RNF31.
Severe Paediatric Disorders v0.7 RNF135 Louise Daugherty Source Next Generation Children Project was added to RNF135.
Severe Paediatric Disorders v0.7 PRICKLE2 Louise Daugherty Source Next Generation Children Project was added to PRICKLE2.
Severe Paediatric Disorders v0.7 NRXN3 Louise Daugherty Source Next Generation Children Project was added to NRXN3.
Severe Paediatric Disorders v0.7 NFAT5 Louise Daugherty Source Next Generation Children Project was added to NFAT5.
Severe Paediatric Disorders v0.7 MUTYH Louise Daugherty Source Next Generation Children Project was added to MUTYH.
Severe Paediatric Disorders v0.7 MEN1 Louise Daugherty Source Next Generation Children Project was added to MEN1.
Severe Paediatric Disorders v0.7 MBL2 Louise Daugherty Source Next Generation Children Project was added to MBL2.
Severe Paediatric Disorders v0.7 KIRREL3 Louise Daugherty Source Next Generation Children Project was added to KIRREL3.
Severe Paediatric Disorders v0.7 ITGAM Louise Daugherty Source Next Generation Children Project was added to ITGAM.
Severe Paediatric Disorders v0.7 IL22 Louise Daugherty Source Next Generation Children Project was added to IL22.
Severe Paediatric Disorders v0.7 IL17A Louise Daugherty Source Next Generation Children Project was added to IL17A.
Severe Paediatric Disorders v0.7 IL10 Louise Daugherty Source Next Generation Children Project was added to IL10.
Severe Paediatric Disorders v0.7 IDH1 Louise Daugherty Source Next Generation Children Project was added to IDH1.
Severe Paediatric Disorders v0.7 HMGA2 Louise Daugherty Source Next Generation Children Project was added to HMGA2.
Severe Paediatric Disorders v0.7 GNAQ Louise Daugherty Source Next Generation Children Project was added to GNAQ.
Severe Paediatric Disorders v0.7 FPR1 Louise Daugherty Source Next Generation Children Project was added to FPR1.
Severe Paediatric Disorders v0.7 EZH1 Louise Daugherty Source Next Generation Children Project was added to EZH1.
Severe Paediatric Disorders v0.7 DRD2 Louise Daugherty Source Next Generation Children Project was added to DRD2.
Severe Paediatric Disorders v0.7 DCXR Louise Daugherty Source Next Generation Children Project was added to DCXR.
Severe Paediatric Disorders v0.7 CFHR4 Louise Daugherty Source Next Generation Children Project was added to CFHR4.
Severe Paediatric Disorders v0.7 CFHR3 Louise Daugherty Source Next Generation Children Project was added to CFHR3.
Severe Paediatric Disorders v0.7 CFHR2 Louise Daugherty Source Next Generation Children Project was added to CFHR2.
Severe Paediatric Disorders v0.7 CFHR1 Louise Daugherty Source Next Generation Children Project was added to CFHR1.
Severe Paediatric Disorders v0.7 CD46 Louise Daugherty Source Next Generation Children Project was added to CD46.
Severe Paediatric Disorders v0.7 ATG16L1 Louise Daugherty Source Next Generation Children Project was added to ATG16L1.
Severe Paediatric Disorders v0.7 ACTL6A Louise Daugherty Source Next Generation Children Project was added to ACTL6A.
Severe Paediatric Disorders v0.7 ZNF292 Louise Daugherty Source Next Generation Children Project was added to ZNF292.
Severe Paediatric Disorders v0.7 WNT3 Louise Daugherty Source Next Generation Children Project was added to WNT3.
Severe Paediatric Disorders v0.7 WIPF1 Louise Daugherty Source Next Generation Children Project was added to WIPF1.
Severe Paediatric Disorders v0.7 WDPCP Louise Daugherty Source Next Generation Children Project was added to WDPCP.
Severe Paediatric Disorders v0.7 UROC1 Louise Daugherty Source Next Generation Children Project was added to UROC1.
Severe Paediatric Disorders v0.7 UNC119 Louise Daugherty Source Next Generation Children Project was added to UNC119.
Severe Paediatric Disorders v0.7 TSEN34 Louise Daugherty Source Next Generation Children Project was added to TSEN34.
Severe Paediatric Disorders v0.7 TRAF3 Louise Daugherty Source Next Generation Children Project was added to TRAF3.
Severe Paediatric Disorders v0.7 TPM4 Louise Daugherty Source Next Generation Children Project was added to TPM4.
Severe Paediatric Disorders v0.7 SNAP25 Louise Daugherty Source Next Generation Children Project was added to SNAP25.
Severe Paediatric Disorders v0.7 SLC25A32 Louise Daugherty Source Next Generation Children Project was added to SLC25A32.
Severe Paediatric Disorders v0.7 SLC18A2 Louise Daugherty Source Next Generation Children Project was added to SLC18A2.
Severe Paediatric Disorders v0.7 SIGMAR1 Louise Daugherty Source Next Generation Children Project was added to SIGMAR1.
Severe Paediatric Disorders v0.7 SEMA3E Louise Daugherty Source Next Generation Children Project was added to SEMA3E.
Severe Paediatric Disorders v0.7 SCP2 Louise Daugherty Source Next Generation Children Project was added to SCP2.
Severe Paediatric Disorders v0.7 RHOH Louise Daugherty Source Next Generation Children Project was added to RHOH.
Severe Paediatric Disorders v0.7 REEP2 Louise Daugherty Source Next Generation Children Project was added to REEP2.
Severe Paediatric Disorders v0.7 RB1 Louise Daugherty Source Next Generation Children Project was added to RB1.
Severe Paediatric Disorders v0.7 PTCHD1 Louise Daugherty Source Next Generation Children Project was added to PTCHD1.
Severe Paediatric Disorders v0.7 PRKACG Louise Daugherty Source Next Generation Children Project was added to PRKACG.
Severe Paediatric Disorders v0.7 PNPLA8 Louise Daugherty Source Next Generation Children Project was added to PNPLA8.
Severe Paediatric Disorders v0.7 PEX11B Louise Daugherty Source Next Generation Children Project was added to PEX11B.
Severe Paediatric Disorders v0.7 PCK1 Louise Daugherty Source Next Generation Children Project was added to PCK1.
Severe Paediatric Disorders v0.7 NIN Louise Daugherty Source Next Generation Children Project was added to NIN.
Severe Paediatric Disorders v0.7 NDUFA2 Louise Daugherty Source Next Generation Children Project was added to NDUFA2.
Severe Paediatric Disorders v0.7 NCF4 Louise Daugherty Source Next Generation Children Project was added to NCF4.
Severe Paediatric Disorders v0.7 NADK2 Louise Daugherty Source Next Generation Children Project was added to NADK2.
Severe Paediatric Disorders v0.7 MTPAP Louise Daugherty Source Next Generation Children Project was added to MTPAP.
Severe Paediatric Disorders v0.7 MRPL44 Louise Daugherty Source Next Generation Children Project was added to MRPL44.
Severe Paediatric Disorders v0.7 MAP3K14 Louise Daugherty Source Next Generation Children Project was added to MAP3K14.
Severe Paediatric Disorders v0.7 LIG1 Louise Daugherty Source Next Generation Children Project was added to LIG1.
Severe Paediatric Disorders v0.7 LCK Louise Daugherty Source Next Generation Children Project was added to LCK.
Severe Paediatric Disorders v0.7 KIAA0753 Louise Daugherty Source Next Generation Children Project was added to KIAA0753.
Severe Paediatric Disorders v0.7 KCNT2 Louise Daugherty Source Next Generation Children Project was added to KCNT2.
Severe Paediatric Disorders v0.7 IRF7 Louise Daugherty Source Next Generation Children Project was added to IRF7.
Severe Paediatric Disorders v0.7 IL21 Louise Daugherty Source Next Generation Children Project was added to IL21.
Severe Paediatric Disorders v0.7 IL17F Louise Daugherty Source Next Generation Children Project was added to IL17F.
Severe Paediatric Disorders v0.7 HYAL1 Louise Daugherty Source Next Generation Children Project was added to HYAL1.
Severe Paediatric Disorders v0.7 HARS2 Louise Daugherty Source Next Generation Children Project was added to HARS2.
Severe Paediatric Disorders v0.7 GFI1 Louise Daugherty Source Next Generation Children Project was added to GFI1.
Severe Paediatric Disorders v0.7 GAD1 Louise Daugherty Source Next Generation Children Project was added to GAD1.
Severe Paediatric Disorders v0.7 FRMD4A Louise Daugherty Source Next Generation Children Project was added to FRMD4A.
Severe Paediatric Disorders v0.7 FASTKD2 Louise Daugherty Source Next Generation Children Project was added to FASTKD2.
Severe Paediatric Disorders v0.7 DDOST Louise Daugherty Source Next Generation Children Project was added to DDOST.
Severe Paediatric Disorders v0.7 CPT1C Louise Daugherty Source Next Generation Children Project was added to CPT1C.
Severe Paediatric Disorders v0.7 COX14 Louise Daugherty Source Next Generation Children Project was added to COX14.
Severe Paediatric Disorders v0.7 COQ7 Louise Daugherty Source Next Generation Children Project was added to COQ7.
Severe Paediatric Disorders v0.7 CFB Louise Daugherty Source Next Generation Children Project was added to CFB.
Severe Paediatric Disorders v0.7 CDC6 Louise Daugherty Source Next Generation Children Project was added to CDC6.
Severe Paediatric Disorders v0.7 CASP8 Louise Daugherty Source Next Generation Children Project was added to CASP8.
Severe Paediatric Disorders v0.7 BLNK Louise Daugherty Source Next Generation Children Project was added to BLNK.
Severe Paediatric Disorders v0.7 BCL10 Louise Daugherty Source Next Generation Children Project was added to BCL10.
Severe Paediatric Disorders v0.7 ATPAF2 Louise Daugherty Source Next Generation Children Project was added to ATPAF2.
Severe Paediatric Disorders v0.7 ATP8A2 Louise Daugherty Source Next Generation Children Project was added to ATP8A2.
Severe Paediatric Disorders v0.7 APOL1 Louise Daugherty Source Next Generation Children Project was added to APOL1.
Severe Paediatric Disorders v0.7 ADAM17 Louise Daugherty Source Next Generation Children Project was added to ADAM17.
Severe Paediatric Disorders v0.7 ACD Louise Daugherty Source Next Generation Children Project was added to ACD.
Severe Paediatric Disorders v0.7 ZSWIM6 Louise Daugherty Source Next Generation Children Project was added to ZSWIM6.
Severe Paediatric Disorders v0.7 ZNF711 Louise Daugherty Source Next Generation Children Project was added to ZNF711.
Severe Paediatric Disorders v0.7 ZNF469 Louise Daugherty Source Next Generation Children Project was added to ZNF469.
Severe Paediatric Disorders v0.7 ZNF462 Louise Daugherty Source Next Generation Children Project was added to ZNF462.
Severe Paediatric Disorders v0.7 ZNF148 Louise Daugherty Source Next Generation Children Project was added to ZNF148.
Severe Paediatric Disorders v0.7 ZNF142 Louise Daugherty Source Next Generation Children Project was added to ZNF142.
Severe Paediatric Disorders v0.7 ZMYND11 Louise Daugherty Source Next Generation Children Project was added to ZMYND11.
Severe Paediatric Disorders v0.7 ZMPSTE24 Louise Daugherty Source Next Generation Children Project was added to ZMPSTE24.
Severe Paediatric Disorders v0.7 ZMIZ1 Louise Daugherty Source Next Generation Children Project was added to ZMIZ1.
Severe Paediatric Disorders v0.7 ZIC3 Louise Daugherty Source Next Generation Children Project was added to ZIC3.
Severe Paediatric Disorders v0.7 ZIC2 Louise Daugherty Source Next Generation Children Project was added to ZIC2.
Severe Paediatric Disorders v0.7 ZIC1 Louise Daugherty Source Next Generation Children Project was added to ZIC1.
Severe Paediatric Disorders v0.7 ZFYVE26 Louise Daugherty Source Next Generation Children Project was added to ZFYVE26.
Severe Paediatric Disorders v0.7 ZFP57 Louise Daugherty Source Next Generation Children Project was added to ZFP57.
Severe Paediatric Disorders v0.7 ZEB2 Louise Daugherty Source Next Generation Children Project was added to ZEB2.
Severe Paediatric Disorders v0.7 ZDHHC9 Louise Daugherty Source Next Generation Children Project was added to ZDHHC9.
Severe Paediatric Disorders v0.7 ZC4H2 Louise Daugherty Source Next Generation Children Project was added to ZC4H2.
Severe Paediatric Disorders v0.7 ZBTB24 Louise Daugherty Source Next Generation Children Project was added to ZBTB24.
Severe Paediatric Disorders v0.7 ZBTB20 Louise Daugherty Source Next Generation Children Project was added to ZBTB20.
Severe Paediatric Disorders v0.7 ZBTB18 Louise Daugherty Source Next Generation Children Project was added to ZBTB18.
Severe Paediatric Disorders v0.7 ZAP70 Louise Daugherty Source Next Generation Children Project was added to ZAP70.
Severe Paediatric Disorders v0.7 YY1 Louise Daugherty Source Next Generation Children Project was added to YY1.
Severe Paediatric Disorders v0.7 YWHAG Louise Daugherty Source Next Generation Children Project was added to YWHAG.
Severe Paediatric Disorders v0.7 YARS2 Louise Daugherty Source Next Generation Children Project was added to YARS2.
Severe Paediatric Disorders v0.7 XYLT2 Louise Daugherty Source Next Generation Children Project was added to XYLT2.
Severe Paediatric Disorders v0.7 XYLT1 Louise Daugherty Source Next Generation Children Project was added to XYLT1.
Severe Paediatric Disorders v0.7 XRCC4 Louise Daugherty Source Next Generation Children Project was added to XRCC4.
Severe Paediatric Disorders v0.7 XPR1 Louise Daugherty Source Next Generation Children Project was added to XPR1.
Severe Paediatric Disorders v0.7 XPC Louise Daugherty Source Next Generation Children Project was added to XPC.
Severe Paediatric Disorders v0.7 XPA Louise Daugherty Source Next Generation Children Project was added to XPA.
Severe Paediatric Disorders v0.7 XIAP Louise Daugherty Source Next Generation Children Project was added to XIAP.
Severe Paediatric Disorders v0.7 XDH Louise Daugherty Source Next Generation Children Project was added to XDH.
Severe Paediatric Disorders v0.7 WWOX Louise Daugherty Source Next Generation Children Project was added to WWOX.
Severe Paediatric Disorders v0.7 WT1 Louise Daugherty Source Next Generation Children Project was added to WT1.
Severe Paediatric Disorders v0.7 WRN Louise Daugherty Source Next Generation Children Project was added to WRN.
Severe Paediatric Disorders v0.7 WRAP53 Louise Daugherty Source Next Generation Children Project was added to WRAP53.
Severe Paediatric Disorders v0.7 WNT7A Louise Daugherty Source Next Generation Children Project was added to WNT7A.
Severe Paediatric Disorders v0.7 WNT5A Louise Daugherty Source Next Generation Children Project was added to WNT5A.
Severe Paediatric Disorders v0.7 WNT10B Louise Daugherty Source Next Generation Children Project was added to WNT10B.
Severe Paediatric Disorders v0.7 WNT10A Louise Daugherty Source Next Generation Children Project was added to WNT10A.
Severe Paediatric Disorders v0.7 WNT1 Louise Daugherty Source Next Generation Children Project was added to WNT1.
Severe Paediatric Disorders v0.7 WFS1 Louise Daugherty Source Next Generation Children Project was added to WFS1.
Severe Paediatric Disorders v0.7 WDR81 Louise Daugherty Source Next Generation Children Project was added to WDR81.
Severe Paediatric Disorders v0.7 WDR73 Louise Daugherty Source Next Generation Children Project was added to WDR73.
Severe Paediatric Disorders v0.7 WDR62 Louise Daugherty Source Next Generation Children Project was added to WDR62.
Severe Paediatric Disorders v0.7 WDR60 Louise Daugherty Source Next Generation Children Project was added to WDR60.
Severe Paediatric Disorders v0.7 WDR45B Louise Daugherty Source Next Generation Children Project was added to WDR45B.
Severe Paediatric Disorders v0.7 WDR45 Louise Daugherty Source Next Generation Children Project was added to WDR45.
Severe Paediatric Disorders v0.7 WDR4 Louise Daugherty Source Next Generation Children Project was added to WDR4.
Severe Paediatric Disorders v0.7 WDR37 Louise Daugherty Source Next Generation Children Project was added to WDR37.
Severe Paediatric Disorders v0.7 WDR35 Louise Daugherty Source Next Generation Children Project was added to WDR35.
Severe Paediatric Disorders v0.7 WDR34 Louise Daugherty Source Next Generation Children Project was added to WDR34.
Severe Paediatric Disorders v0.7 WDR26 Louise Daugherty Source Next Generation Children Project was added to WDR26.
Severe Paediatric Disorders v0.7 WDR19 Louise Daugherty Source Next Generation Children Project was added to WDR19.
Severe Paediatric Disorders v0.7 WDR11 Louise Daugherty Source Next Generation Children Project was added to WDR11.
Severe Paediatric Disorders v0.7 WASHC5 Louise Daugherty Source Next Generation Children Project was added to WASHC5.
Severe Paediatric Disorders v0.7 WASF1 Louise Daugherty Source Next Generation Children Project was added to WASF1.
Severe Paediatric Disorders v0.7 WAS Louise Daugherty Source Next Generation Children Project was added to WAS.
Severe Paediatric Disorders v0.7 WARS2 Louise Daugherty Source Next Generation Children Project was added to WARS2.
Severe Paediatric Disorders v0.7 WAC Louise Daugherty Source Next Generation Children Project was added to WAC.
Severe Paediatric Disorders v0.7 VWF Louise Daugherty Source Next Generation Children Project was added to VWF.
Severe Paediatric Disorders v0.7 VSX2 Louise Daugherty Source Next Generation Children Project was added to VSX2.
Severe Paediatric Disorders v0.7 VRK1 Louise Daugherty Source Next Generation Children Project was added to VRK1.
Severe Paediatric Disorders v0.7 VPS53 Louise Daugherty Source Next Generation Children Project was added to VPS53.
Severe Paediatric Disorders v0.7 VPS45 Louise Daugherty Source Next Generation Children Project was added to VPS45.
Severe Paediatric Disorders v0.7 VPS33B Louise Daugherty Source Next Generation Children Project was added to VPS33B.
Severe Paediatric Disorders v0.7 VPS13D Louise Daugherty Source Next Generation Children Project was added to VPS13D.
Severe Paediatric Disorders v0.7 VPS13B Louise Daugherty Source Next Generation Children Project was added to VPS13B.
Severe Paediatric Disorders v0.7 VPS13A Louise Daugherty Source Next Generation Children Project was added to VPS13A.
Severe Paediatric Disorders v0.7 VPS11 Louise Daugherty Source Next Generation Children Project was added to VPS11.
Severe Paediatric Disorders v0.7 VMA21 Louise Daugherty Source Next Generation Children Project was added to VMA21.
Severe Paediatric Disorders v0.7 VLDLR Louise Daugherty Source Next Generation Children Project was added to VLDLR.
Severe Paediatric Disorders v0.7 VKORC1 Louise Daugherty Source Next Generation Children Project was added to VKORC1.
Severe Paediatric Disorders v0.7 VIPAS39 Louise Daugherty Source Next Generation Children Project was added to VIPAS39.
Severe Paediatric Disorders v0.7 VHL Louise Daugherty Source Next Generation Children Project was added to VHL.
Severe Paediatric Disorders v0.7 VDR Louise Daugherty Source Next Generation Children Project was added to VDR.
Severe Paediatric Disorders v0.7 VCP Louise Daugherty Source Next Generation Children Project was added to VCP.
Severe Paediatric Disorders v0.7 VCAN Louise Daugherty Source Next Generation Children Project was added to VCAN.
Severe Paediatric Disorders v0.7 VARS2 Louise Daugherty Source Next Generation Children Project was added to VARS2.
Severe Paediatric Disorders v0.7 VARS Louise Daugherty Source Next Generation Children Project was added to VARS.
Severe Paediatric Disorders v0.7 VAMP2 Louise Daugherty Source Next Generation Children Project was added to VAMP2.
Severe Paediatric Disorders v0.7 VAMP1 Louise Daugherty Source Next Generation Children Project was added to VAMP1.
Severe Paediatric Disorders v0.7 VAC14 Louise Daugherty Source Next Generation Children Project was added to VAC14.
Severe Paediatric Disorders v0.7 UVSSA Louise Daugherty Source Next Generation Children Project was added to UVSSA.
Severe Paediatric Disorders v0.7 USP9X Louise Daugherty Source Next Generation Children Project was added to USP9X.
Severe Paediatric Disorders v0.7 USP18 Louise Daugherty Source Next Generation Children Project was added to USP18.
Severe Paediatric Disorders v0.7 USH2A Louise Daugherty Source Next Generation Children Project was added to USH2A.
Severe Paediatric Disorders v0.7 USH1G Louise Daugherty Source Next Generation Children Project was added to USH1G.
Severe Paediatric Disorders v0.7 USH1C Louise Daugherty Source Next Generation Children Project was added to USH1C.
Severe Paediatric Disorders v0.7 USB1 Louise Daugherty Source Next Generation Children Project was added to USB1.
Severe Paediatric Disorders v0.7 UROS Louise Daugherty Source Next Generation Children Project was added to UROS.
Severe Paediatric Disorders v0.7 UROD Louise Daugherty Source Next Generation Children Project was added to UROD.
Severe Paediatric Disorders v0.7 UQCRB Louise Daugherty Source Next Generation Children Project was added to UQCRB.
Severe Paediatric Disorders v0.7 UQCC2 Louise Daugherty Source Next Generation Children Project was added to UQCC2.
Severe Paediatric Disorders v0.7 UPF3B Louise Daugherty Source Next Generation Children Project was added to UPF3B.
Severe Paediatric Disorders v0.7 UNG Louise Daugherty Source Next Generation Children Project was added to UNG.
Severe Paediatric Disorders v0.7 UNC93B1 Louise Daugherty Source Next Generation Children Project was added to UNC93B1.
Severe Paediatric Disorders v0.7 UNC80 Louise Daugherty Source Next Generation Children Project was added to UNC80.
Severe Paediatric Disorders v0.7 UNC13D Louise Daugherty Source Next Generation Children Project was added to UNC13D.
Severe Paediatric Disorders v0.7 UMPS Louise Daugherty Source Next Generation Children Project was added to UMPS.
Severe Paediatric Disorders v0.7 UMOD Louise Daugherty Source Next Generation Children Project was added to UMOD.
Severe Paediatric Disorders v0.7 UGT1A1 Louise Daugherty Source Next Generation Children Project was added to UGT1A1.
Severe Paediatric Disorders v0.7 UFM1 Louise Daugherty Source Next Generation Children Project was added to UFM1.
Severe Paediatric Disorders v0.7 UFC1 Louise Daugherty Source Next Generation Children Project was added to UFC1.
Severe Paediatric Disorders v0.7 UCHL1 Louise Daugherty Source Next Generation Children Project was added to UCHL1.
Severe Paediatric Disorders v0.7 UBTF Louise Daugherty Source Next Generation Children Project was added to UBTF.
Severe Paediatric Disorders v0.7 UBR1 Louise Daugherty Source Next Generation Children Project was added to UBR1.
Severe Paediatric Disorders v0.7 UBE3B Louise Daugherty Source Next Generation Children Project was added to UBE3B.
Severe Paediatric Disorders v0.7 UBE3A Louise Daugherty Source Next Generation Children Project was added to UBE3A.
Severe Paediatric Disorders v0.7 UBE2T Louise Daugherty Source Next Generation Children Project was added to UBE2T.
Severe Paediatric Disorders v0.7 UBE2A Louise Daugherty Source Next Generation Children Project was added to UBE2A.
Severe Paediatric Disorders v0.7 UBAP1 Louise Daugherty Source Next Generation Children Project was added to UBAP1.
Severe Paediatric Disorders v0.7 UBA5 Louise Daugherty Source Next Generation Children Project was added to UBA5.
Severe Paediatric Disorders v0.7 UBA1 Louise Daugherty Source Next Generation Children Project was added to UBA1.
Severe Paediatric Disorders v0.7 TYRP1 Louise Daugherty Source Next Generation Children Project was added to TYRP1.
Severe Paediatric Disorders v0.7 TYROBP Louise Daugherty Source Next Generation Children Project was added to TYROBP.
Severe Paediatric Disorders v0.7 TYR Louise Daugherty Source Next Generation Children Project was added to TYR.
Severe Paediatric Disorders v0.7 TYMP Louise Daugherty Source Next Generation Children Project was added to TYMP.
Severe Paediatric Disorders v0.7 TYK2 Louise Daugherty Source Next Generation Children Project was added to TYK2.
Severe Paediatric Disorders v0.7 TXNL4A Louise Daugherty Source Next Generation Children Project was added to TXNL4A.
Severe Paediatric Disorders v0.7 TXNDC15 Louise Daugherty Source Next Generation Children Project was added to TXNDC15.
Severe Paediatric Disorders v0.7 TWNK Louise Daugherty Source Next Generation Children Project was added to TWNK.
Severe Paediatric Disorders v0.7 TWIST2 Louise Daugherty Source Next Generation Children Project was added to TWIST2.
Severe Paediatric Disorders v0.7 TWIST1 Louise Daugherty Source Next Generation Children Project was added to TWIST1.
Severe Paediatric Disorders v0.7 TUSC3 Louise Daugherty Source Next Generation Children Project was added to TUSC3.
Severe Paediatric Disorders v0.7 TUFM Louise Daugherty Source Next Generation Children Project was added to TUFM.
Severe Paediatric Disorders v0.7 TUBGCP6 Louise Daugherty Source Next Generation Children Project was added to TUBGCP6.
Severe Paediatric Disorders v0.7 TUBGCP4 Louise Daugherty Source Next Generation Children Project was added to TUBGCP4.
Severe Paediatric Disorders v0.7 TUBG1 Louise Daugherty Source Next Generation Children Project was added to TUBG1.
Severe Paediatric Disorders v0.7 TUBB4A Louise Daugherty Source Next Generation Children Project was added to TUBB4A.
Severe Paediatric Disorders v0.7 TUBB3 Louise Daugherty Source Next Generation Children Project was added to TUBB3.
Severe Paediatric Disorders v0.7 TUBB2B Louise Daugherty Source Next Generation Children Project was added to TUBB2B.
Severe Paediatric Disorders v0.7 TUBB2A Louise Daugherty Source Next Generation Children Project was added to TUBB2A.
Severe Paediatric Disorders v0.7 TUBB1 Louise Daugherty Source Next Generation Children Project was added to TUBB1.
Severe Paediatric Disorders v0.7 TUBB Louise Daugherty Source Next Generation Children Project was added to TUBB.
Severe Paediatric Disorders v0.7 TUBA8 Louise Daugherty Source Next Generation Children Project was added to TUBA8.
Severe Paediatric Disorders v0.7 TUBA1A Louise Daugherty Source Next Generation Children Project was added to TUBA1A.
Severe Paediatric Disorders v0.7 TTR Louise Daugherty Source Next Generation Children Project was added to TTR.
Severe Paediatric Disorders v0.7 TTPA Louise Daugherty Source Next Generation Children Project was added to TTPA.
Severe Paediatric Disorders v0.7 TTN Louise Daugherty Source Next Generation Children Project was added to TTN.
Severe Paediatric Disorders v0.7 TTI2 Louise Daugherty Source Next Generation Children Project was added to TTI2.
Severe Paediatric Disorders v0.7 TTC8 Louise Daugherty Source Next Generation Children Project was added to TTC8.
Severe Paediatric Disorders v0.7 TTC7A Louise Daugherty Source Next Generation Children Project was added to TTC7A.
Severe Paediatric Disorders v0.7 TTC37 Louise Daugherty Source Next Generation Children Project was added to TTC37.
Severe Paediatric Disorders v0.7 TTC21B Louise Daugherty Source Next Generation Children Project was added to TTC21B.
Severe Paediatric Disorders v0.7 TTC19 Louise Daugherty Source Next Generation Children Project was added to TTC19.
Severe Paediatric Disorders v0.7 TTBK2 Louise Daugherty Source Next Generation Children Project was added to TTBK2.
Severe Paediatric Disorders v0.7 TSPAN7 Louise Daugherty Source Next Generation Children Project was added to TSPAN7.
Severe Paediatric Disorders v0.7 TSHR Louise Daugherty Source Next Generation Children Project was added to TSHR.
Severe Paediatric Disorders v0.7 TSHB Louise Daugherty Source Next Generation Children Project was added to TSHB.