18 Apr 2024
Severe Paediatric Disorders v1.184
PRNP
Tracy Lester reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
10 Apr 2024
Severe Paediatric Disorders v1.184
CNTNAP2
Tracy Lester reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2024
Severe Paediatric Disorders v1.182
MSTO1
Sarah Leigh Publications for gene: MSTO1 were set to 30847515
20 Feb 2024
Severe Paediatric Disorders v1.180
MSTO1
Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Jan 2024
Severe Paediatric Disorders v1.179
CNBP_CCTG
Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
28 Nov 2023
Severe Paediatric Disorders v1.176
CPA6
Sarah Leigh reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Nov 2023
Severe Paediatric Disorders v1.176
CSF1R
Tracy Lester reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
21 Nov 2023
Severe Paediatric Disorders v1.176
SQSTM1
Tracy Lester reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, ataxia, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Nov 2023
Severe Paediatric Disorders v1.175
FAM111A
Sarah Leigh Publications for gene: FAM111A were set to 30847515
17 Oct 2023
Severe Paediatric Disorders v1.173
SLC6A20
Sarah Leigh reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
11 Sep 2023
Severe Paediatric Disorders v1.173
C9orf72
Dmitrijs Rots reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
10 Aug 2023
Severe Paediatric Disorders v1.171
SLC12A3
Sarah Leigh Publications for gene: SLC12A3 were set to 30847515
10 Aug 2023
Severe Paediatric Disorders v1.169
SLC12A1
Sarah Leigh Publications for gene: SLC12A1 were set to 30847515
01 Aug 2023
Severe Paediatric Disorders v1.167
SLC25A24
Sarah Leigh Publications for gene: SLC25A24 were set to 30847515
01 Aug 2023
Severe Paediatric Disorders v1.165
SLC22A5
Sarah Leigh Publications for gene: SLC22A5 were set to 30847515
28 Jul 2023
Severe Paediatric Disorders v1.161
UCHL1
Sarah Leigh reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Jul 2023
Severe Paediatric Disorders v1.160
UCHL1
Sarah Leigh Publications for gene: UCHL1 were set to 30847515
21 Jul 2023
Severe Paediatric Disorders v1.159
SLC6A19
Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 32644502; Phenotypes: pellagra, cerebellar ataxia, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
30 May 2023
Severe Paediatric Disorders v1.159
ETFB
Sarah Leigh Publications for gene: ETFB were set to 30847515; 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139
30 May 2023
Severe Paediatric Disorders v1.158
ETFB
Sarah Leigh Publications for gene: ETFB were set to 30847515
30 May 2023
Severe Paediatric Disorders v1.157
ETFB
Sarah Leigh Added comment: Comment on publications: 7912128;12815589;25929793;27604308;30847515;32550677
30 May 2023
Severe Paediatric Disorders v1.157
ETFB
Sarah Leigh Publications for gene: ETFB were set to 30847515
30 May 2023
Severe Paediatric Disorders v1.154
COASY
Sarah Leigh Publications for gene: COASY were set to 30847515
16 May 2023
Severe Paediatric Disorders v1.153
CPA6
Ian Berry reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023
Severe Paediatric Disorders v1.153
SPG7
Sarah Leigh Publications for gene: SPG7 were set to 30847515
08 Mar 2023
Severe Paediatric Disorders v1.147
DEPDC5
Achchuthan Shanmugasundram reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32848577, 36067010; Phenotypes: Epilepsy, familial focal, with variable foci 1, OMIM:604364, epilepsy, MONDO:0005027, Macrocephaly, HP:0000256, polymicrogyria, MONDO:0000087, cerebral cortical dysplasia, MONDO:0017094, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Mar 2023
Severe Paediatric Disorders v1.146
SELENON
Achchuthan Shanmugasundram Publications for gene: SELENON were set to 30847515
07 Mar 2023
Severe Paediatric Disorders v1.144
SELENON
Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642275, 32796131; Phenotypes: Congenital myopathy 3 with rigid spine, OMIM:602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Mar 2023
Severe Paediatric Disorders v1.142
EMC1
Achchuthan Shanmugasundram reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35234901; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Mar 2023
Severe Paediatric Disorders v1.142
EMC1
Achchuthan Shanmugasundram Publications for gene: EMC1 were set to 30847515
28 Feb 2023
Severe Paediatric Disorders v1.138
STXBP1
Sarah Leigh Publications for gene: STXBP1 were set to 30847515; 31855252; 18469812; 19557857
28 Feb 2023
Severe Paediatric Disorders v1.137
STXBP1
Sarah Leigh Publications for gene: STXBP1 were set to 30847515
23 Feb 2023
Severe Paediatric Disorders v1.136
GRIA2
Sarah Leigh Publications for gene: GRIA2 were set to 30847515
10 Jan 2023
Severe Paediatric Disorders v1.133
ZNF292
Sarah Leigh Publications for gene: ZNF292 were set to 30847515
10 Jan 2023
Severe Paediatric Disorders v1.131
ZNF292
Sarah Leigh reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
13 Sep 2022
Severe Paediatric Disorders v1.128
STUB1
Sarah Leigh Publications for gene: STUB1 were set to 30847515
26 May 2022
Severe Paediatric Disorders v1.124
ACO2
Sarah Leigh Publications for gene: ACO2 were set to 30847515
19 May 2022
Severe Paediatric Disorders v1.123
PRODH
Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).
07 Apr 2022
Severe Paediatric Disorders v1.120
C19orf12
Sarah Leigh Publications for gene: C19orf12 were set to 30847515
21 Jan 2022
Severe Paediatric Disorders v1.114
CSNK2B
Sarah Leigh Publications for gene: CSNK2B were set to 30847515
15 Nov 2021
Severe Paediatric Disorders v1.92
CLPB
Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
09 Nov 2021
Severe Paediatric Disorders v1.86
DMPK
Arina Puzriakova changed review comment from: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: Genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. Should be demoted to Red due to disease mechanism however as this is a research panel based on a publication the Green rating will be maintained.
26 Oct 2021
Severe Paediatric Disorders v1.84
IFT122
Sarah Leigh reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Sep 2021
Severe Paediatric Disorders v1.84
ATXN7
Dmitrijs Rots reviewed gene: ATXN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Sep 2021
Severe Paediatric Disorders v1.84
ATXN3
Dmitrijs Rots reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Sep 2021
Severe Paediatric Disorders v1.84
ATXN2
Dmitrijs Rots reviewed gene: ATXN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Sep 2021
Severe Paediatric Disorders v1.84
ATXN10
Dmitrijs Rots reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
23 Sep 2021
Severe Paediatric Disorders v1.84
ATXN1
Dmitrijs Rots reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Jul 2021
Severe Paediatric Disorders v1.81
DMPK
Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
30 Jun 2021
Severe Paediatric Disorders v1.78
DMPK
Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Apr 2021
Severe Paediatric Disorders v1.67
ADPRHL2
Sarah Leigh Publications for gene: ADPRHL2 were set to 30847515
18 Feb 2021
Severe Paediatric Disorders v1.62
CLP1
Sarah Leigh Publications for gene: CLP1 were set to 30847515
18 Feb 2021
Severe Paediatric Disorders v1.61
CLP1
Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766810, 24766809, 29307788; Phenotypes: ; Mode of inheritance: None
29 Jan 2021
Severe Paediatric Disorders v1.57
MSMO1
Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
14 Jan 2021
Severe Paediatric Disorders v1.41
B9D2
Arina Puzriakova Publications for gene: B9D2 were set to 30847515
04 Jan 2021
Severe Paediatric Disorders v1.34
TRIP4
Arina Puzriakova Publications for gene: TRIP4 were set to 30847515
24 Dec 2020
Severe Paediatric Disorders v1.29
MPI
Arina Puzriakova Publications for gene: MPI were set to 30847515
23 Dec 2020
Severe Paediatric Disorders v1.27
KCNMA1
Arina Puzriakova Publications for gene: KCNMA1 were set to 30847515
16 Nov 2020
Severe Paediatric Disorders v1.17
COX6B1
Arina Puzriakova Publications for gene: COX6B1 were set to 30847515
16 Nov 2020
Severe Paediatric Disorders v1.16
SCO1
Arina Puzriakova Publications for gene: SCO1 were set to 30847515
11 Nov 2020
Severe Paediatric Disorders v1.14
MAPRE2
Arina Puzriakova Publications for gene: MAPRE2 were set to 30847515
30 Jul 2020
Severe Paediatric Disorders v1.10
TUBB2A
Arina Puzriakova reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Jul 2020
Severe Paediatric Disorders v1.10
NGLY1
Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None
13 Jul 2020
Severe Paediatric Disorders v1.7
SLC12A6
Sarah Leigh Publications for gene: SLC12A6 were set to 30847515
30 Jun 2020
Severe Paediatric Disorders v1.6
MCM3AP
Eleanor Williams reviewed gene: MCM3AP: Rating: ; Mode of pathogenicity: None; Publications: 32202298; Phenotypes: peripheral neuropathy with or without impaired intellectual development, 618124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Apr 2020
Severe Paediatric Disorders v1.1
AP3D1
Zornitza Stark reviewed gene: AP3D1: Rating: RED; Mode of pathogenicity: None; Publications: 26744459, 9697856; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050, Oculocutaneous albinism, Severe neutropaenia, Recurrent infections, Seizures, Hearing loss, Neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Mar 2020
Severe Paediatric Disorders v1.1
TUBA8
Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: None
21 Feb 2020
Severe Paediatric Disorders v0.17
LCAT
Louise Daugherty Mode of inheritance for gene LCAT was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2020
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
21 Feb 2020
Severe Paediatric Disorders v0.17
ACAT1
Louise Daugherty Mode of inheritance for gene ACAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.12
PMS2
Louise Daugherty reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS35
Louise Daugherty reviewed gene: VPS35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAF3IP2
Louise Daugherty reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFSF12
Louise Daugherty reviewed gene: TNFSF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFRSF4
Louise Daugherty reviewed gene: TNFRSF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMO
Louise Daugherty reviewed gene: SMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIM1
Louise Daugherty reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SART3
Louise Daugherty reviewed gene: SART3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS15
Louise Daugherty reviewed gene: RPS15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNF31
Louise Daugherty reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNF135
Louise Daugherty reviewed gene: RNF135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRICKLE2
Louise Daugherty reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NRXN3
Louise Daugherty reviewed gene: NRXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFAT5
Louise Daugherty reviewed gene: NFAT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MUTYH
Louise Daugherty reviewed gene: MUTYH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MEN1
Louise Daugherty reviewed gene: MEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MBL2
Louise Daugherty reviewed gene: MBL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIRREL3
Louise Daugherty reviewed gene: KIRREL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGAM
Louise Daugherty reviewed gene: ITGAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL22
Louise Daugherty reviewed gene: IL22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL17A
Louise Daugherty reviewed gene: IL17A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL10
Louise Daugherty reviewed gene: IL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IDH1
Louise Daugherty reviewed gene: IDH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HMGA2
Louise Daugherty reviewed gene: HMGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNAQ
Louise Daugherty reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FPR1
Louise Daugherty reviewed gene: FPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EZH1
Louise Daugherty reviewed gene: EZH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DRD2
Louise Daugherty reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCXR
Louise Daugherty reviewed gene: DCXR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFHR4
Louise Daugherty reviewed gene: CFHR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFHR3
Louise Daugherty reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFHR2
Louise Daugherty reviewed gene: CFHR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFHR1
Louise Daugherty reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD46
Louise Daugherty reviewed gene: CD46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATG16L1
Louise Daugherty reviewed gene: ATG16L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTL6A
Louise Daugherty reviewed gene: ACTL6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZNF292
Louise Daugherty reviewed gene: ZNF292: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WNT3
Louise Daugherty reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WIPF1
Louise Daugherty reviewed gene: WIPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDPCP
Louise Daugherty reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UROC1
Louise Daugherty reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UNC119
Louise Daugherty reviewed gene: UNC119: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSEN34
Louise Daugherty reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAF3
Louise Daugherty reviewed gene: TRAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPM4
Louise Daugherty reviewed gene: TPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SNAP25
Louise Daugherty reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A32
Louise Daugherty reviewed gene: SLC25A32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC18A2
Louise Daugherty reviewed gene: SLC18A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIGMAR1
Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SEMA3E
Louise Daugherty reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCP2
Louise Daugherty reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RHOH
Louise Daugherty reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
REEP2
Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RB1
Louise Daugherty reviewed gene: RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTCHD1
Louise Daugherty reviewed gene: PTCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKACG
Louise Daugherty reviewed gene: PRKACG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PNPLA8
Louise Daugherty reviewed gene: PNPLA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX11B
Louise Daugherty reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCK1
Louise Daugherty reviewed gene: PCK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NIN
Louise Daugherty reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFA2
Louise Daugherty reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NCF4
Louise Daugherty reviewed gene: NCF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NADK2
Louise Daugherty reviewed gene: NADK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTPAP
Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MRPL44
Louise Daugherty reviewed gene: MRPL44: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAP3K14
Louise Daugherty reviewed gene: MAP3K14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LIG1
Louise Daugherty reviewed gene: LIG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LCK
Louise Daugherty reviewed gene: LCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIAA0753
Louise Daugherty reviewed gene: KIAA0753: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNT2
Louise Daugherty reviewed gene: KCNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IRF7
Louise Daugherty reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL21
Louise Daugherty reviewed gene: IL21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL17F
Louise Daugherty reviewed gene: IL17F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HYAL1
Louise Daugherty reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HARS2
Louise Daugherty reviewed gene: HARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GFI1
Louise Daugherty reviewed gene: GFI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GAD1
Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FRMD4A
Louise Daugherty reviewed gene: FRMD4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FASTKD2
Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDOST
Louise Daugherty reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CPT1C
Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COX14
Louise Daugherty reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COQ7
Louise Daugherty reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFB
Louise Daugherty reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDC6
Louise Daugherty reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CASP8
Louise Daugherty reviewed gene: CASP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BLNK
Louise Daugherty reviewed gene: BLNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCL10
Louise Daugherty reviewed gene: BCL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATPAF2
Louise Daugherty reviewed gene: ATPAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP8A2
Louise Daugherty reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APOL1
Louise Daugherty reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADAM17
Louise Daugherty reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACD
Louise Daugherty reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZSWIM6
Louise Daugherty reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZNF711
Louise Daugherty reviewed gene: ZNF711: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZNF469
Louise Daugherty reviewed gene: ZNF469: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZNF462
Louise Daugherty reviewed gene: ZNF462: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZNF148
Louise Daugherty reviewed gene: ZNF148: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZNF142
Louise Daugherty reviewed gene: ZNF142: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZMYND11
Louise Daugherty reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZMPSTE24
Louise Daugherty reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZMIZ1
Louise Daugherty reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZIC3
Louise Daugherty reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZIC2
Louise Daugherty reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZIC1
Louise Daugherty reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZFYVE26
Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZFP57
Louise Daugherty reviewed gene: ZFP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZEB2
Louise Daugherty reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZDHHC9
Louise Daugherty reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZC4H2
Louise Daugherty reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZBTB24
Louise Daugherty reviewed gene: ZBTB24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZBTB20
Louise Daugherty reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZBTB18
Louise Daugherty reviewed gene: ZBTB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ZAP70
Louise Daugherty reviewed gene: ZAP70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
YY1
Louise Daugherty reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
YWHAG
Louise Daugherty reviewed gene: YWHAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
YARS2
Louise Daugherty reviewed gene: YARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XYLT2
Louise Daugherty reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XYLT1
Louise Daugherty reviewed gene: XYLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XRCC4
Louise Daugherty reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XPR1
Louise Daugherty reviewed gene: XPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XPC
Louise Daugherty reviewed gene: XPC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XPA
Louise Daugherty reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XIAP
Louise Daugherty reviewed gene: XIAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
XDH
Louise Daugherty reviewed gene: XDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WWOX
Louise Daugherty reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WT1
Louise Daugherty reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WRN
Louise Daugherty reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WRAP53
Louise Daugherty reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WNT7A
Louise Daugherty reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WNT5A
Louise Daugherty reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WNT10B
Louise Daugherty reviewed gene: WNT10B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WNT10A
Louise Daugherty reviewed gene: WNT10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WNT1
Louise Daugherty reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WFS1
Louise Daugherty reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR81
Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR73
Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR62
Louise Daugherty reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR60
Louise Daugherty reviewed gene: WDR60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR45B
Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR45
Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR4
Louise Daugherty reviewed gene: WDR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR37
Louise Daugherty reviewed gene: WDR37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR35
Louise Daugherty reviewed gene: WDR35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR34
Louise Daugherty reviewed gene: WDR34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR26
Louise Daugherty reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR19
Louise Daugherty reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WDR11
Louise Daugherty reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WASHC5
Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WASF1
Louise Daugherty reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WAS
Louise Daugherty reviewed gene: WAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WARS2
Louise Daugherty reviewed gene: WARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
WAC
Louise Daugherty reviewed gene: WAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VWF
Louise Daugherty reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VSX2
Louise Daugherty reviewed gene: VSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VRK1
Louise Daugherty reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS53
Louise Daugherty reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS45
Louise Daugherty reviewed gene: VPS45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS33B
Louise Daugherty reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS13D
Louise Daugherty reviewed gene: VPS13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS13B
Louise Daugherty reviewed gene: VPS13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS13A
Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VPS11
Louise Daugherty reviewed gene: VPS11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VMA21
Louise Daugherty reviewed gene: VMA21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VLDLR
Louise Daugherty reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VKORC1
Louise Daugherty reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VIPAS39
Louise Daugherty reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VHL
Louise Daugherty reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VDR
Louise Daugherty reviewed gene: VDR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VCP
Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VCAN
Louise Daugherty reviewed gene: VCAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VARS2
Louise Daugherty reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VAMP2
Louise Daugherty reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VAMP1
Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
VAC14
Louise Daugherty reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UVSSA
Louise Daugherty reviewed gene: UVSSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
USP9X
Louise Daugherty reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
USP18
Louise Daugherty reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
USH2A
Louise Daugherty reviewed gene: USH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
USH1G
Louise Daugherty reviewed gene: USH1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
USH1C
Louise Daugherty reviewed gene: USH1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
USB1
Louise Daugherty reviewed gene: USB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UROS
Louise Daugherty reviewed gene: UROS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UROD
Louise Daugherty reviewed gene: UROD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UQCRB
Louise Daugherty reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UQCC2
Louise Daugherty reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UPF3B
Louise Daugherty reviewed gene: UPF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UNG
Louise Daugherty reviewed gene: UNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UNC93B1
Louise Daugherty reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UNC80
Louise Daugherty reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UNC13D
Louise Daugherty reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UMPS
Louise Daugherty reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UMOD
Louise Daugherty reviewed gene: UMOD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UGT1A1
Louise Daugherty reviewed gene: UGT1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UFM1
Louise Daugherty reviewed gene: UFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UFC1
Louise Daugherty reviewed gene: UFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UCHL1
Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBTF
Louise Daugherty reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBR1
Louise Daugherty reviewed gene: UBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBE3B
Louise Daugherty reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBE3A
Louise Daugherty reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBE2T
Louise Daugherty reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBE2A
Louise Daugherty reviewed gene: UBE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBAP1
Louise Daugherty reviewed gene: UBAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBA5
Louise Daugherty reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
UBA1
Louise Daugherty reviewed gene: UBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TYRP1
Louise Daugherty reviewed gene: TYRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TYROBP
Louise Daugherty reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TYR
Louise Daugherty reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TYMP
Louise Daugherty reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TYK2
Louise Daugherty reviewed gene: TYK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TXNL4A
Louise Daugherty reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TXNDC15
Louise Daugherty reviewed gene: TXNDC15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TWNK
Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TWIST2
Louise Daugherty reviewed gene: TWIST2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TWIST1
Louise Daugherty reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUSC3
Louise Daugherty reviewed gene: TUSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUFM
Louise Daugherty reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBGCP6
Louise Daugherty reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBGCP4
Louise Daugherty reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBG1
Louise Daugherty reviewed gene: TUBG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBB4A
Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBB3
Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBB2B
Louise Daugherty reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBB2A
Louise Daugherty reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBB1
Louise Daugherty reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBB
Louise Daugherty reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBA8
Louise Daugherty reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TUBA1A
Louise Daugherty reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTR
Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTPA
Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTN
Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTI2
Louise Daugherty reviewed gene: TTI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTC8
Louise Daugherty reviewed gene: TTC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTC7A
Louise Daugherty reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTC37
Louise Daugherty reviewed gene: TTC37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTC21B
Louise Daugherty reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTC19
Louise Daugherty reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TTBK2
Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSPAN7
Louise Daugherty reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSHR
Louise Daugherty reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSHB
Louise Daugherty reviewed gene: TSHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSFM
Louise Daugherty reviewed gene: TSFM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSEN54
Louise Daugherty reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSEN2
Louise Daugherty reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSC2
Louise Daugherty reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TSC1
Louise Daugherty reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRRAP
Louise Daugherty reviewed gene: TRRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRPV6
Louise Daugherty reviewed gene: TRPV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRPV4
Louise Daugherty reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRPS1
Louise Daugherty reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRPM6
Louise Daugherty reviewed gene: TRPM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRPM4
Louise Daugherty reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRPM1
Louise Daugherty reviewed gene: TRPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRPC6
Louise Daugherty reviewed gene: TRPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRNT1
Louise Daugherty reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRMU
Louise Daugherty reviewed gene: TRMU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRMT5
Louise Daugherty reviewed gene: TRMT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRMT10C
Louise Daugherty reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRMT10A
Louise Daugherty reviewed gene: TRMT10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRMT1
Louise Daugherty reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIT1
Louise Daugherty reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIP4
Louise Daugherty reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIP12
Louise Daugherty reviewed gene: TRIP12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIP11
Louise Daugherty reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIOBP
Louise Daugherty reviewed gene: TRIOBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIO
Louise Daugherty reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIM8
Louise Daugherty reviewed gene: TRIM8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIM71
Louise Daugherty reviewed gene: TRIM71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIM37
Louise Daugherty reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRIM32
Louise Daugherty reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TREX1
Louise Daugherty reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TREM2
Louise Daugherty reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAPPC9
Louise Daugherty reviewed gene: TRAPPC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAPPC2
Louise Daugherty reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAPPC12
Louise Daugherty reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAPPC11
Louise Daugherty reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAP1
Louise Daugherty reviewed gene: TRAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAK1
Louise Daugherty reviewed gene: TRAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAIP
Louise Daugherty reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAF7
Louise Daugherty reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAF3IP1
Louise Daugherty reviewed gene: TRAF3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TRAC
Louise Daugherty reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPRKB
Louise Daugherty reviewed gene: TPRKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPP2
Louise Daugherty reviewed gene: TPP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPP1
Louise Daugherty reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPO
Louise Daugherty reviewed gene: TPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPM3
Louise Daugherty reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPM2
Louise Daugherty reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPK1
Louise Daugherty reviewed gene: TPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TPI1
Louise Daugherty reviewed gene: TPI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TP63
Louise Daugherty reviewed gene: TP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TP53RK
Louise Daugherty reviewed gene: TP53RK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TP53
Louise Daugherty reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TOR1A
Louise Daugherty reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TOP3A
Louise Daugherty reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TOE1
Louise Daugherty reviewed gene: TOE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNS2
Louise Daugherty reviewed gene: TNS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNNT3
Louise Daugherty reviewed gene: TNNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNNT1
Louise Daugherty reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNNI2
Louise Daugherty reviewed gene: TNNI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFSF11
Louise Daugherty reviewed gene: TNFSF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFRSF1A
Louise Daugherty reviewed gene: TNFRSF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFRSF13C
Louise Daugherty reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFRSF13B
Louise Daugherty reviewed gene: TNFRSF13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFRSF11B
Louise Daugherty reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFRSF11A
Louise Daugherty reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TNFAIP3
Louise Daugherty reviewed gene: TNFAIP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMTC3
Louise Daugherty reviewed gene: TMTC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMPRSS6
Louise Daugherty reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMPRSS3
Louise Daugherty reviewed gene: TMPRSS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMIE
Louise Daugherty reviewed gene: TMIE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM94
Louise Daugherty reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM70
Louise Daugherty reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM67
Louise Daugherty reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM43
Louise Daugherty reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM38B
Louise Daugherty reviewed gene: TMEM38B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM240
Louise Daugherty reviewed gene: TMEM240: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM237
Louise Daugherty reviewed gene: TMEM237: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM231
Louise Daugherty reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM216
Louise Daugherty reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM165
Louise Daugherty reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM138
Louise Daugherty reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM126B
Louise Daugherty reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMEM107
Louise Daugherty reviewed gene: TMEM107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMCO1
Louise Daugherty reviewed gene: TMCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMC8
Louise Daugherty reviewed gene: TMC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMC6
Louise Daugherty reviewed gene: TMC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TMC1
Louise Daugherty reviewed gene: TMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TLR3
Louise Daugherty reviewed gene: TLR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TLK2
Louise Daugherty reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TK2
Louise Daugherty reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TJP2
Louise Daugherty reviewed gene: TJP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TINF2
Louise Daugherty reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TIMM8A
Louise Daugherty reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TIMM50
Louise Daugherty reviewed gene: TIMM50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TICAM1
Louise Daugherty reviewed gene: TICAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TIA1
Louise Daugherty reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
THRB
Louise Daugherty reviewed gene: THRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
THRA
Louise Daugherty reviewed gene: THRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
THPO
Louise Daugherty reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
THOC6
Louise Daugherty reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
THOC2
Louise Daugherty reviewed gene: THOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
THBD
Louise Daugherty reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
THAP1
Louise Daugherty reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TH
Louise Daugherty reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGM6
Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGM5
Louise Daugherty reviewed gene: TGM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGM1
Louise Daugherty reviewed gene: TGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGIF1
Louise Daugherty reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGFBR2
Louise Daugherty reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGFBR1
Louise Daugherty reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGFB3
Louise Daugherty reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGFB2
Louise Daugherty reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGFB1
Louise Daugherty reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TGDS
Louise Daugherty reviewed gene: TGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TG
Louise Daugherty reviewed gene: TG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TFR2
Louise Daugherty reviewed gene: TFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TFG
Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TFAP2B
Louise Daugherty reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TFAP2A
Louise Daugherty reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TF
Louise Daugherty reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TERT
Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TERC
Louise Daugherty reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TENM3
Louise Daugherty reviewed gene: TENM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TELO2
Louise Daugherty reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TEK
Louise Daugherty reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TECTA
Louise Daugherty reviewed gene: TECTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TECPR2
Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCTN3
Louise Daugherty reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCTN2
Louise Daugherty reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCTN1
Louise Daugherty reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCTEX1D2
Louise Daugherty reviewed gene: TCTEX1D2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCOF1
Louise Daugherty reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCN2
Louise Daugherty reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCIRG1
Louise Daugherty reviewed gene: TCIRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCF4
Louise Daugherty reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCF3
Louise Daugherty reviewed gene: TCF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCF20
Louise Daugherty reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCF12
Louise Daugherty reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TCAP
Louise Daugherty reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBXAS1
Louise Daugherty reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBXA2R
Louise Daugherty reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX6
Louise Daugherty reviewed gene: TBX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX5
Louise Daugherty reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX4
Louise Daugherty reviewed gene: TBX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX3
Louise Daugherty reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX22
Louise Daugherty reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX20
Louise Daugherty reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX18
Louise Daugherty reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX15
Louise Daugherty reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBX1
Louise Daugherty reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBR1
Louise Daugherty reviewed gene: TBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBP
Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBL1XR1
Louise Daugherty reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBK1
Louise Daugherty reviewed gene: TBK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBCK
Louise Daugherty reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBCE
Louise Daugherty reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBCD
Louise Daugherty reviewed gene: TBCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBC1D24
Louise Daugherty reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBC1D23
Louise Daugherty reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TBC1D20
Louise Daugherty reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAZ
Louise Daugherty reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAT
Louise Daugherty reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TARDBP
Louise Daugherty reviewed gene: TARDBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAPT1
Louise Daugherty reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAPBP
Louise Daugherty reviewed gene: TAPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAP2
Louise Daugherty reviewed gene: TAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAP1
Louise Daugherty reviewed gene: TAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TANGO2
Louise Daugherty reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TALDO1
Louise Daugherty reviewed gene: TALDO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAF6
Louise Daugherty reviewed gene: TAF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAF1
Louise Daugherty reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TACO1
Louise Daugherty reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
TAB2
Louise Daugherty reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SZT2
Louise Daugherty reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SYT1
Louise Daugherty reviewed gene: SYT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SYP
Louise Daugherty reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SYNJ1
Louise Daugherty reviewed gene: SYNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SYNGAP1
Louise Daugherty reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SYNE1
Louise Daugherty reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SYN1
Louise Daugherty reviewed gene: SYN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SUZ12
Louise Daugherty reviewed gene: SUZ12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SURF1
Louise Daugherty reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SUOX
Louise Daugherty reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SUMF1
Louise Daugherty reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SUCLG1
Louise Daugherty reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SUCLA2
Louise Daugherty reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STXBP2
Louise Daugherty reviewed gene: STXBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STXBP1
Louise Daugherty reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STX1B
Louise Daugherty reviewed gene: STX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STX11
Louise Daugherty reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STUB1
Louise Daugherty reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STS
Louise Daugherty reviewed gene: STS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STRC
Louise Daugherty reviewed gene: STRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STRADA
Louise Daugherty reviewed gene: STRADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STRA6
Louise Daugherty reviewed gene: STRA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STK4
Louise Daugherty reviewed gene: STK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STK11
Louise Daugherty reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STIM1
Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STIL
Louise Daugherty reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAT5B
Louise Daugherty reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAT3
Louise Daugherty reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAT2
Louise Daugherty reviewed gene: STAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAT1
Louise Daugherty reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAR
Louise Daugherty reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAMBP
Louise Daugherty reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAG2
Louise Daugherty reviewed gene: STAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAG1
Louise Daugherty reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
STAC3
Louise Daugherty reviewed gene: STAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ST3GAL5
Louise Daugherty reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ST3GAL3
Louise Daugherty reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SSR4
Louise Daugherty reviewed gene: SSR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SRY
Louise Daugherty reviewed gene: SRY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SRD5A3
Louise Daugherty reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SRD5A2
Louise Daugherty reviewed gene: SRD5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SRCAP
Louise Daugherty reviewed gene: SRCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SRC
Louise Daugherty reviewed gene: SRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SQSTM1
Louise Daugherty reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPTLC2
Louise Daugherty reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPTLC1
Louise Daugherty reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPTBN4
Louise Daugherty reviewed gene: SPTBN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPTBN2
Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPTB
Louise Daugherty reviewed gene: SPTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPTAN1
Louise Daugherty reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPTA1
Louise Daugherty reviewed gene: SPTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPRED1
Louise Daugherty reviewed gene: SPRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPR
Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPPL2A
Louise Daugherty reviewed gene: SPPL2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPINK5
Louise Daugherty reviewed gene: SPINK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPG7
Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPG21
Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPG11
Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPEG
Louise Daugherty reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPECC1L
Louise Daugherty reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPATA5
Louise Daugherty reviewed gene: SPATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPAST
Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPART
Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SPAG1
Louise Daugherty reviewed gene: SPAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SP110
Louise Daugherty reviewed gene: SP110: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX9
Louise Daugherty reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX5
Louise Daugherty reviewed gene: SOX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX4
Louise Daugherty reviewed gene: SOX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX3
Louise Daugherty reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX2
Louise Daugherty reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX17
Louise Daugherty reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX11
Louise Daugherty reviewed gene: SOX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOX10
Louise Daugherty reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOST
Louise Daugherty reviewed gene: SOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOS2
Louise Daugherty reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SOS1
Louise Daugherty reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SON
Louise Daugherty reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SNX14
Louise Daugherty reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SNX10
Louise Daugherty reviewed gene: SNX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SNRPB
Louise Daugherty reviewed gene: SNRPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SNORD118
Louise Daugherty reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SNCA
Louise Daugherty reviewed gene: SNCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SNAP29
Louise Daugherty reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMS
Louise Daugherty reviewed gene: SMS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMPX
Louise Daugherty reviewed gene: SMPX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMPD1
Louise Daugherty reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMOC1
Louise Daugherty reviewed gene: SMOC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMN1
Louise Daugherty reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMCHD1
Louise Daugherty reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMC3
Louise Daugherty reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMC1A
Louise Daugherty reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMARCE1
Louise Daugherty reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMARCD1
Louise Daugherty reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMARCC2
Louise Daugherty reviewed gene: SMARCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMARCB1
Louise Daugherty reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMARCAL1
Louise Daugherty reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMARCA4
Louise Daugherty reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMARCA2
Louise Daugherty reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMAD4
Louise Daugherty reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SMAD3
Louise Daugherty reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLX4
Louise Daugherty reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLFN14
Louise Daugherty reviewed gene: SLFN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLCO2A1
Louise Daugherty reviewed gene: SLCO2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC9A6
Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC7A9
Louise Daugherty reviewed gene: SLC7A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC7A7
Louise Daugherty reviewed gene: SLC7A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A9
Louise Daugherty reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A8
Louise Daugherty reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A5
Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A3
Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A20
Louise Daugherty reviewed gene: SLC6A20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A19
Louise Daugherty reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A17
Louise Daugherty reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC6A1
Louise Daugherty reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC5A7
Louise Daugherty reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC5A5
Louise Daugherty reviewed gene: SLC5A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC5A2
Louise Daugherty reviewed gene: SLC5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC5A1
Louise Daugherty reviewed gene: SLC5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC52A3
Louise Daugherty reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC52A2
Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC4A4
Louise Daugherty reviewed gene: SLC4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC4A11
Louise Daugherty reviewed gene: SLC4A11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC4A1
Louise Daugherty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC46A1
Louise Daugherty reviewed gene: SLC46A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC45A2
Louise Daugherty reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC40A1
Louise Daugherty reviewed gene: SLC40A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC3A1
Louise Daugherty reviewed gene: SLC3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC39A8
Louise Daugherty reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC39A4
Louise Daugherty reviewed gene: SLC39A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC39A14
Louise Daugherty reviewed gene: SLC39A14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC39A13
Louise Daugherty reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC37A4
Louise Daugherty reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC35D1
Louise Daugherty reviewed gene: SLC35D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC35C1
Louise Daugherty reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC35A2
Louise Daugherty reviewed gene: SLC35A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC35A1
Louise Daugherty reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC34A3
Louise Daugherty reviewed gene: SLC34A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC34A2
Louise Daugherty reviewed gene: SLC34A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC33A1
Louise Daugherty reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC30A10
Louise Daugherty reviewed gene: SLC30A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC2A2
Louise Daugherty reviewed gene: SLC2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC2A10
Louise Daugherty reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC2A1
Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC29A3
Louise Daugherty reviewed gene: SLC29A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC27A4
Louise Daugherty reviewed gene: SLC27A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC26A4
Louise Daugherty reviewed gene: SLC26A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC26A3
Louise Daugherty reviewed gene: SLC26A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC26A2
Louise Daugherty reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A46
Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A42
Louise Daugherty reviewed gene: SLC25A42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A4
Louise Daugherty reviewed gene: SLC25A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A38
Louise Daugherty reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A3
Louise Daugherty reviewed gene: SLC25A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A26
Louise Daugherty reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A24
Louise Daugherty reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A22
Louise Daugherty reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A20
Louise Daugherty reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A19
Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A15
Louise Daugherty reviewed gene: SLC25A15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A13
Louise Daugherty reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A12
Louise Daugherty reviewed gene: SLC25A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC25A1
Louise Daugherty reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC22A5
Louise Daugherty reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC20A2
Louise Daugherty reviewed gene: SLC20A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC1A4
Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC1A3
Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC1A2
Louise Daugherty reviewed gene: SLC1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC19A3
Louise Daugherty reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC19A2
Louise Daugherty reviewed gene: SLC19A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC18A3
Louise Daugherty reviewed gene: SLC18A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC17A5
Louise Daugherty reviewed gene: SLC17A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC16A2
Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC16A1
Louise Daugherty reviewed gene: SLC16A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC13A5
Louise Daugherty reviewed gene: SLC13A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC12A6
Louise Daugherty reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC12A5
Louise Daugherty reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC12A3
Louise Daugherty reviewed gene: SLC12A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC12A1
Louise Daugherty reviewed gene: SLC12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC11A2
Louise Daugherty reviewed gene: SLC11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SLC10A7
Louise Daugherty reviewed gene: SLC10A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SKIV2L
Louise Daugherty reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SKI
Louise Daugherty reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIX5
Louise Daugherty reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIX3
Louise Daugherty reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIX1
Louise Daugherty reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIN3A
Louise Daugherty reviewed gene: SIN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIL1
Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SIK1
Louise Daugherty reviewed gene: SIK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SI
Louise Daugherty reviewed gene: SI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SHOX
Louise Daugherty reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SHOC2
Louise Daugherty reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SHH
Louise Daugherty reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SHANK3
Louise Daugherty reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SHANK2
Louise Daugherty reviewed gene: SHANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SH3TC2
Louise Daugherty reviewed gene: SH3TC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SH3PXD2B
Louise Daugherty reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SH3BP2
Louise Daugherty reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SH2D1A
Louise Daugherty reviewed gene: SH2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SGSH
Louise Daugherty reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SGPL1
Louise Daugherty reviewed gene: SGPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SGCG
Louise Daugherty reviewed gene: SGCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SGCE
Louise Daugherty reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SGCD
Louise Daugherty reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SGCB
Louise Daugherty reviewed gene: SGCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SGCA
Louise Daugherty reviewed gene: SGCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SFXN4
Louise Daugherty reviewed gene: SFXN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SFTPB
Louise Daugherty reviewed gene: SFTPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SFRP4
Louise Daugherty reviewed gene: SFRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SF3B4
Louise Daugherty reviewed gene: SF3B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SETX
Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SETD5
Louise Daugherty reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SETD2
Louise Daugherty reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SETD1B
Louise Daugherty reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SETBP1
Louise Daugherty reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SET
Louise Daugherty reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SERPINH1
Louise Daugherty reviewed gene: SERPINH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SERPING1
Louise Daugherty reviewed gene: SERPING1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SERPINF2
Louise Daugherty reviewed gene: SERPINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SERPINF1
Louise Daugherty reviewed gene: SERPINF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SERPINE1
Louise Daugherty reviewed gene: SERPINE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SERAC1
Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SEPSECS
Louise Daugherty reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SELENON
Louise Daugherty reviewed gene: SELENON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SEC24D
Louise Daugherty reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SEC23B
Louise Daugherty reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SDHD
Louise Daugherty reviewed gene: SDHD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SDHB
Louise Daugherty reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SDHAF1
Louise Daugherty reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SDHA
Louise Daugherty reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SDCCAG8
Louise Daugherty reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCO2
Louise Daugherty reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCO1
Louise Daugherty reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCNN1B
Louise Daugherty reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCNN1A
Louise Daugherty reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN9A
Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN8A
Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN4A
Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN3A
Louise Daugherty reviewed gene: SCN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN2A
Louise Daugherty reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN1B
Louise Daugherty reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN1A
Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCN11A
Louise Daugherty reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCLT1
Louise Daugherty reviewed gene: SCLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCARF2
Louise Daugherty reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCARB2
Louise Daugherty reviewed gene: SCARB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SCAPER
Louise Daugherty reviewed gene: SCAPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SC5D
Louise Daugherty reviewed gene: SC5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SBF2
Louise Daugherty reviewed gene: SBF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SBF1
Louise Daugherty reviewed gene: SBF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SBDS
Louise Daugherty reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SATB2
Louise Daugherty reviewed gene: SATB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SARS2
Louise Daugherty reviewed gene: SARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SAR1B
Louise Daugherty reviewed gene: SAR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SAMHD1
Louise Daugherty reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SAMD9L
Louise Daugherty reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SAMD9
Louise Daugherty reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SAMD12
Louise Daugherty reviewed gene: SAMD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SALL4
Louise Daugherty reviewed gene: SALL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SALL1
Louise Daugherty reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
SACS
Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RYR2
Louise Daugherty reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RYR1
Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RUNX2
Louise Daugherty reviewed gene: RUNX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RUNX1
Louise Daugherty reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RTTN
Louise Daugherty reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RTN4IP1
Louise Daugherty reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RTN2
Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RTEL1
Louise Daugherty reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RSPO4
Louise Daugherty reviewed gene: RSPO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RSPH9
Louise Daugherty reviewed gene: RSPH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RSPH4A
Louise Daugherty reviewed gene: RSPH4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RSPH3
Louise Daugherty reviewed gene: RSPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RSPH1
Louise Daugherty reviewed gene: RSPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RS1
Louise Daugherty reviewed gene: RS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RRM2B
Louise Daugherty reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPSA
Louise Daugherty reviewed gene: RPSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS7
Louise Daugherty reviewed gene: RPS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS6KA3
Louise Daugherty reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS26
Louise Daugherty reviewed gene: RPS26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS24
Louise Daugherty reviewed gene: RPS24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS19
Louise Daugherty reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS17
Louise Daugherty reviewed gene: RPS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPS10
Louise Daugherty reviewed gene: RPS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPL5
Louise Daugherty reviewed gene: RPL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPL35A
Louise Daugherty reviewed gene: RPL35A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPL11
Louise Daugherty reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPL10
Louise Daugherty reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPIA
Louise Daugherty reviewed gene: RPIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPGRIP1L
Louise Daugherty reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPGRIP1
Louise Daugherty reviewed gene: RPGRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPGR
Louise Daugherty reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RPE65
Louise Daugherty reviewed gene: RPE65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RORC
Louise Daugherty reviewed gene: RORC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RORB
Louise Daugherty reviewed gene: RORB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RORA
Louise Daugherty reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ROR2
Louise Daugherty reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ROGDI
Louise Daugherty reviewed gene: ROGDI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ROBO3
Louise Daugherty reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ROBO1
Louise Daugherty reviewed gene: ROBO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNU4ATAC
Louise Daugherty reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNF216
Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNF170
Louise Daugherty reviewed gene: RNF170: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNF168
Louise Daugherty reviewed gene: RNF168: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNF125
Louise Daugherty reviewed gene: RNF125: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNASET2
Louise Daugherty reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNASEH2C
Louise Daugherty reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNASEH2B
Louise Daugherty reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNASEH2A
Louise Daugherty reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RNASEH1
Louise Daugherty reviewed gene: RNASEH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RMRP
Louise Daugherty reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RMND1
Louise Daugherty reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RLIM
Louise Daugherty reviewed gene: RLIM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RIT1
Louise Daugherty reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RIPK4
Louise Daugherty reviewed gene: RIPK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RIPK1
Louise Daugherty reviewed gene: RIPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RHOBTB2
Louise Daugherty reviewed gene: RHOBTB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RHAG
Louise Daugherty reviewed gene: RHAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RFXAP
Louise Daugherty reviewed gene: RFXAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RFXANK
Louise Daugherty reviewed gene: RFXANK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RFX6
Louise Daugherty reviewed gene: RFX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RFX5
Louise Daugherty reviewed gene: RFX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RFT1
Louise Daugherty reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RETREG1
Louise Daugherty reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RET
Louise Daugherty reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RERE
Louise Daugherty reviewed gene: RERE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
REN
Louise Daugherty reviewed gene: REN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RELN
Louise Daugherty reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
REEP1
Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RECQL4
Louise Daugherty reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RBPJ
Louise Daugherty reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RBM8A
Louise Daugherty reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RBM10
Louise Daugherty reviewed gene: RBM10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RBCK1
Louise Daugherty reviewed gene: RBCK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RBBP8
Louise Daugherty reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAX
Louise Daugherty reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RASGRP2
Louise Daugherty reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RASGRP1
Louise Daugherty reviewed gene: RASGRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RASA1
Louise Daugherty reviewed gene: RASA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RARS2
Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RARB
Louise Daugherty reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAPSN
Louise Daugherty reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RALA
Louise Daugherty reviewed gene: RALA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAI1
Louise Daugherty reviewed gene: RAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAG2
Louise Daugherty reviewed gene: RAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAG1
Louise Daugherty reviewed gene: RAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAF1
Louise Daugherty reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAD21
Louise Daugherty reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAC3
Louise Daugherty reviewed gene: RAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAC2
Louise Daugherty reviewed gene: RAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAC1
Louise Daugherty reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB7A
Louise Daugherty reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB3GAP2
Louise Daugherty reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB3GAP1
Louise Daugherty reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB39B
Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB33B
Louise Daugherty reviewed gene: RAB33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB27A
Louise Daugherty reviewed gene: RAB27A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB23
Louise Daugherty reviewed gene: RAB23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB18
Louise Daugherty reviewed gene: RAB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
RAB11B
Louise Daugherty reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
QRSL1
Louise Daugherty reviewed gene: QRSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
QRICH1
Louise Daugherty reviewed gene: QRICH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
QDPR
Louise Daugherty reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PYGM
Louise Daugherty reviewed gene: PYGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PYGL
Louise Daugherty reviewed gene: PYGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PYCR2
Louise Daugherty reviewed gene: PYCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PYCR1
Louise Daugherty reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PUS7
Louise Daugherty reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PUS3
Louise Daugherty reviewed gene: PUS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PUS1
Louise Daugherty reviewed gene: PUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PURA
Louise Daugherty reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PUM1
Louise Daugherty reviewed gene: PUM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PUF60
Louise Daugherty reviewed gene: PUF60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTS
Louise Daugherty reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTPRC
Louise Daugherty reviewed gene: PTPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTPN23
Louise Daugherty reviewed gene: PTPN23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTPN11
Louise Daugherty reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTHLH
Louise Daugherty reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTH1R
Louise Daugherty reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTF1A
Louise Daugherty reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTEN
Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTDSS1
Louise Daugherty reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PTCH1
Louise Daugherty reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PSTPIP1
Louise Daugherty reviewed gene: PSTPIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PSPH
Louise Daugherty reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PSMD12
Louise Daugherty reviewed gene: PSMD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PSMB8
Louise Daugherty reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PSEN1
Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PSAT1
Louise Daugherty reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PSAP
Louise Daugherty reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRX
Louise Daugherty reviewed gene: PRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRUNE1
Louise Daugherty reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRSS56
Louise Daugherty reviewed gene: PRSS56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRSS12
Louise Daugherty reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRRT2
Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRR12
Louise Daugherty reviewed gene: PRR12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRPS1
Louise Daugherty reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PROS1
Louise Daugherty reviewed gene: PROS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PROP1
Louise Daugherty reviewed gene: PROP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PROKR2
Louise Daugherty reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRODH
Louise Daugherty reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PROC
Louise Daugherty reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRNP
Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRMT7
Louise Daugherty reviewed gene: PRMT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKRA
Louise Daugherty reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKN
Louise Daugherty reviewed gene: PRKN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKDC
Louise Daugherty reviewed gene: PRKDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKD1
Louise Daugherty reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKCG
Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKCD
Louise Daugherty reviewed gene: PRKCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKAR1A
Louise Daugherty reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRKAG2
Louise Daugherty reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRICKLE1
Louise Daugherty reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRG4
Louise Daugherty reviewed gene: PRG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRF1
Louise Daugherty reviewed gene: PRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PRDM12
Louise Daugherty reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PQBP1
Louise Daugherty reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPT1
Louise Daugherty reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP3CA
Louise Daugherty reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP2R5D
Louise Daugherty reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP2R2B
Louise Daugherty reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP2R1A
Louise Daugherty reviewed gene: PPP2R1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP2CA
Louise Daugherty reviewed gene: PPP2CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP1R21
Louise Daugherty reviewed gene: PPP1R21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP1R15B
Louise Daugherty reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPP1CB
Louise Daugherty reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPOX
Louise Daugherty reviewed gene: PPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPM1D
Louise Daugherty reviewed gene: PPM1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPIB
Louise Daugherty reviewed gene: PPIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PPA2
Louise Daugherty reviewed gene: PPA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POU4F3
Louise Daugherty reviewed gene: POU4F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POU3F4
Louise Daugherty reviewed gene: POU3F4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POU3F3
Louise Daugherty reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POU1F1
Louise Daugherty reviewed gene: POU1F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PORCN
Louise Daugherty reviewed gene: PORCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POR
Louise Daugherty reviewed gene: POR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POP1
Louise Daugherty reviewed gene: POP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POMT2
Louise Daugherty reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POMT1
Louise Daugherty reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POMK
Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POMGNT2
Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POMGNT1
Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLR3B
Louise Daugherty reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLR3A
Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLR2A
Louise Daugherty reviewed gene: POLR2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLR1D
Louise Daugherty reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLR1C
Louise Daugherty reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLR1A
Louise Daugherty reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLH
Louise Daugherty reviewed gene: POLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLG2
Louise Daugherty reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLG
Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLE
Louise Daugherty reviewed gene: POLE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLD1
Louise Daugherty reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POLA1
Louise Daugherty reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POGZ
Louise Daugherty reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POC1B
Louise Daugherty reviewed gene: POC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
POC1A
Louise Daugherty reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PNPT1
Louise Daugherty reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PNPO
Louise Daugherty reviewed gene: PNPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PNPLA6
Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PNP
Louise Daugherty reviewed gene: PNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PNKP
Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PNKD
Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PMPCB
Louise Daugherty reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PMPCA
Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PMP22
Louise Daugherty reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PMM2
Louise Daugherty reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLS3
Louise Daugherty reviewed gene: PLS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLPBP
Louise Daugherty reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLP1
Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLOD2
Louise Daugherty reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLOD1
Louise Daugherty reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLK4
Louise Daugherty reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLG
Louise Daugherty reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLEC
Louise Daugherty reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLCG2
Louise Daugherty reviewed gene: PLCG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLCE1
Louise Daugherty reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLCB1
Louise Daugherty reviewed gene: PLCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLAU
Louise Daugherty reviewed gene: PLAU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLAA
Louise Daugherty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLA2G6
Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PLA2G4A
Louise Daugherty reviewed gene: PLA2G4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PKLR
Louise Daugherty reviewed gene: PKLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PKHD1
Louise Daugherty reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PKD2
Louise Daugherty reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PKD1L1
Louise Daugherty reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PKD1
Louise Daugherty reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PITX3
Louise Daugherty reviewed gene: PITX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PITX2
Louise Daugherty reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PITX1
Louise Daugherty reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PITRM1
Louise Daugherty reviewed gene: PITRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PINK1
Louise Daugherty reviewed gene: PINK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIK3R2
Louise Daugherty reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIK3R1
Louise Daugherty reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIK3CD
Louise Daugherty reviewed gene: PIK3CD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIK3CA
Louise Daugherty reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGW
Louise Daugherty reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGV
Louise Daugherty reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGU
Louise Daugherty reviewed gene: PIGU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGT
Louise Daugherty reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGQ
Louise Daugherty reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGO
Louise Daugherty reviewed gene: PIGO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGN
Louise Daugherty reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGL
Louise Daugherty reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGH
Louise Daugherty reviewed gene: PIGH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGG
Louise Daugherty reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGC
Louise Daugherty reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGB
Louise Daugherty reviewed gene: PIGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIGA
Louise Daugherty reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIEZO2
Louise Daugherty reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PIEZO1
Louise Daugherty reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHYH
Louise Daugherty reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHOX2B
Louise Daugherty reviewed gene: PHOX2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHKG2
Louise Daugherty reviewed gene: PHKG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHKB
Louise Daugherty reviewed gene: PHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHKA2
Louise Daugherty reviewed gene: PHKA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHKA1
Louise Daugherty reviewed gene: PHKA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHIP
Louise Daugherty reviewed gene: PHIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHGDH
Louise Daugherty reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHF8
Louise Daugherty reviewed gene: PHF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHF6
Louise Daugherty reviewed gene: PHF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHF21A
Louise Daugherty reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHEX
Louise Daugherty reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PHACTR1
Louise Daugherty reviewed gene: PHACTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PGM3
Louise Daugherty reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PGM1
Louise Daugherty reviewed gene: PGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PGK1
Louise Daugherty reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PGAP3
Louise Daugherty reviewed gene: PGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PGAP2
Louise Daugherty reviewed gene: PGAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PGAP1
Louise Daugherty reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PGAM2
Louise Daugherty reviewed gene: PGAM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PFKM
Louise Daugherty reviewed gene: PFKM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX7
Louise Daugherty reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX6
Louise Daugherty reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX5
Louise Daugherty reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX3
Louise Daugherty reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX26
Louise Daugherty reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX2
Louise Daugherty reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX19
Louise Daugherty reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX16
Louise Daugherty reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX14
Louise Daugherty reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX13
Louise Daugherty reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX12
Louise Daugherty reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX10
Louise Daugherty reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEX1
Louise Daugherty reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PET100
Louise Daugherty reviewed gene: PET100: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PEPD
Louise Daugherty reviewed gene: PEPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDYN
Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDSS2
Louise Daugherty reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDSS1
Louise Daugherty reviewed gene: PDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDP1
Louise Daugherty reviewed gene: PDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDHX
Louise Daugherty reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDHB
Louise Daugherty reviewed gene: PDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDHA1
Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDGFRB
Louise Daugherty reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDGFB
Louise Daugherty reviewed gene: PDGFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDE6G
Louise Daugherty reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDE4D
Louise Daugherty reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDE3A
Louise Daugherty reviewed gene: PDE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDE10A
Louise Daugherty reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PDCD10
Louise Daugherty reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCYT1A
Louise Daugherty reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCSK9
Louise Daugherty reviewed gene: PCSK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCNT
Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCGF2
Louise Daugherty reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCDH19
Louise Daugherty reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCDH15
Louise Daugherty reviewed gene: PCDH15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCDH12
Louise Daugherty reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCCB
Louise Daugherty reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCCA
Louise Daugherty reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PCBD1
Louise Daugherty reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PC
Louise Daugherty reviewed gene: PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PBX1
Louise Daugherty reviewed gene: PBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAX9
Louise Daugherty reviewed gene: PAX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAX8
Louise Daugherty reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAX6
Louise Daugherty reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAX3
Louise Daugherty reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAX2
Louise Daugherty reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PARS2
Louise Daugherty reviewed gene: PARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PARN
Louise Daugherty reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PARK7
Louise Daugherty reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAPSS2
Louise Daugherty reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAPPA2
Louise Daugherty reviewed gene: PAPPA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PANK2
Louise Daugherty reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PALB2
Louise Daugherty reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAK3
Louise Daugherty reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAH
Louise Daugherty reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PAFAH1B1
Louise Daugherty reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PACS2
Louise Daugherty reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
PACS1
Louise Daugherty reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
P4HTM
Louise Daugherty reviewed gene: P4HTM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
P3H1
Louise Daugherty reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
P2RY12
Louise Daugherty reviewed gene: P2RY12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OXCT1
Louise Daugherty reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OTX2
Louise Daugherty reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OTULIN
Louise Daugherty reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OTUD6B
Louise Daugherty reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OTOGL
Louise Daugherty reviewed gene: OTOGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OTOF
Louise Daugherty reviewed gene: OTOF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OTOA
Louise Daugherty reviewed gene: OTOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OTC
Louise Daugherty reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OSTM1
Louise Daugherty reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OSMR
Louise Daugherty reviewed gene: OSMR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OSGEP
Louise Daugherty reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ORC6
Louise Daugherty reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ORC4
Louise Daugherty reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ORC1
Louise Daugherty reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ORAI1
Louise Daugherty reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OPHN1
Louise Daugherty reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OPA3
Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OPA1
Louise Daugherty reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OGT
Louise Daugherty reviewed gene: OGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OFD1
Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ODC1
Louise Daugherty reviewed gene: ODC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OCRL
Louise Daugherty reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OCLN
Louise Daugherty reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OCA2
Louise Daugherty reviewed gene: OCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OBSL1
Louise Daugherty reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
OAT
Louise Daugherty reviewed gene: OAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NYX
Louise Daugherty reviewed gene: NYX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NUS1
Louise Daugherty reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NUP93
Louise Daugherty reviewed gene: NUP93: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NUP107
Louise Daugherty reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NUBPL
Louise Daugherty reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NTRK2
Louise Daugherty reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NTRK1
Louise Daugherty reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NT5C3A
Louise Daugherty reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NT5C2
Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NSUN2
Louise Daugherty reviewed gene: NSUN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NSMCE3
Louise Daugherty reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NSDHL
Louise Daugherty reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NSD2
Louise Daugherty reviewed gene: NSD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NSD1
Louise Daugherty reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NRXN1
Louise Daugherty reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NRAS
Louise Daugherty reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NR5A1
Louise Daugherty reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NR2F2
Louise Daugherty reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NR2F1
Louise Daugherty reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NR1H4
Louise Daugherty reviewed gene: NR1H4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NR0B1
Louise Daugherty reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPRL3
Louise Daugherty reviewed gene: NPRL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPR2
Louise Daugherty reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPHS2
Louise Daugherty reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPHS1
Louise Daugherty reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPHP4
Louise Daugherty reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPHP3
Louise Daugherty reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPHP1
Louise Daugherty reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPC2
Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NPC1
Louise Daugherty reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NOTCH3
Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NOTCH2
Louise Daugherty reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NOTCH1
Louise Daugherty reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NOP56
Louise Daugherty reviewed gene: NOP56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NOP10
Louise Daugherty reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NONO
Louise Daugherty reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NOG
Louise Daugherty reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NODAL
Louise Daugherty reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NOD2
Louise Daugherty reviewed gene: NOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NMNAT1
Louise Daugherty reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NLRP3
Louise Daugherty reviewed gene: NLRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NLRP12
Louise Daugherty reviewed gene: NLRP12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NLRC4
Louise Daugherty reviewed gene: NLRC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NLGN3
Louise Daugherty reviewed gene: NLGN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NKX6-2
Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NKX3-2
Louise Daugherty reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NKX2-5
Louise Daugherty reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NKX2-1
Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NIPBL
Louise Daugherty reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NIPAL4
Louise Daugherty reviewed gene: NIPAL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NIPA1
Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NHS
Louise Daugherty reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NHP2
Louise Daugherty reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NHLRC1
Louise Daugherty reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NHEJ1
Louise Daugherty reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NGLY1
Louise Daugherty reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFU1
Louise Daugherty reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFKBIA
Louise Daugherty reviewed gene: NFKBIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFKB2
Louise Daugherty reviewed gene: NFKB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFKB1
Louise Daugherty reviewed gene: NFKB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFIX
Louise Daugherty reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFIA
Louise Daugherty reviewed gene: NFIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFE2L2
Louise Daugherty reviewed gene: NFE2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NFASC
Louise Daugherty reviewed gene: NFASC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NF2
Louise Daugherty reviewed gene: NF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NF1
Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEXMIF
Louise Daugherty reviewed gene: NEXMIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEU1
Louise Daugherty reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEK8
Louise Daugherty reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEK1
Louise Daugherty reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEFL
Louise Daugherty reviewed gene: NEFL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEFH
Louise Daugherty reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEDD4L
Louise Daugherty reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NECTIN4
Louise Daugherty reviewed gene: NECTIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NECTIN1
Louise Daugherty reviewed gene: NECTIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NEB
Louise Daugherty reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFV2
Louise Daugherty reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFV1
Louise Daugherty reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFS8
Louise Daugherty reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFS7
Louise Daugherty reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFS6
Louise Daugherty reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFS4
Louise Daugherty reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFS3
Louise Daugherty reviewed gene: NDUFS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFS2
Louise Daugherty reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFS1
Louise Daugherty reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFB8
Louise Daugherty reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFB3
Louise Daugherty reviewed gene: NDUFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFB11
Louise Daugherty reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFAF8
Louise Daugherty reviewed gene: NDUFAF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFAF6
Louise Daugherty reviewed gene: NDUFAF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFAF5
Louise Daugherty reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFAF4
Louise Daugherty reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFAF3
Louise Daugherty reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFAF2
Louise Daugherty reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFAF1
Louise Daugherty reviewed gene: NDUFAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFA9
Louise Daugherty reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFA6
Louise Daugherty reviewed gene: NDUFA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFA4
Louise Daugherty reviewed gene: NDUFA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFA11
Louise Daugherty reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFA10
Louise Daugherty reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDUFA1
Louise Daugherty reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDST1
Louise Daugherty reviewed gene: NDST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDRG1
Louise Daugherty reviewed gene: NDRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDP
Louise Daugherty reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NDE1
Louise Daugherty reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NCF2
Louise Daugherty reviewed gene: NCF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NCF1
Louise Daugherty reviewed gene: NCF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NBN
Louise Daugherty reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NBEAL2
Louise Daugherty reviewed gene: NBEAL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NBEA
Louise Daugherty reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NBAS
Louise Daugherty reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NAXE
Louise Daugherty reviewed gene: NAXE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NARS2
Louise Daugherty reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NANS
Louise Daugherty reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NALCN
Louise Daugherty reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NAGS
Louise Daugherty reviewed gene: NAGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NAGLU
Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NAGA
Louise Daugherty reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NACC1
Louise Daugherty reviewed gene: NACC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NAA15
Louise Daugherty reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
NAA10
Louise Daugherty reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYT1L
Louise Daugherty reviewed gene: MYT1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYT1
Louise Daugherty reviewed gene: MYT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYSM1
Louise Daugherty reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYRF
Louise Daugherty reviewed gene: MYRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYOT
Louise Daugherty reviewed gene: MYOT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO7A
Louise Daugherty reviewed gene: MYO7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO6
Louise Daugherty reviewed gene: MYO6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO5B
Louise Daugherty reviewed gene: MYO5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO5A
Louise Daugherty reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO3A
Louise Daugherty reviewed gene: MYO3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO1E
Louise Daugherty reviewed gene: MYO1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO18B
Louise Daugherty reviewed gene: MYO18B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYO15A
Louise Daugherty reviewed gene: MYO15A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYMK
Louise Daugherty reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYL1
Louise Daugherty reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH9
Louise Daugherty reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH8
Louise Daugherty reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH7
Louise Daugherty reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH6
Louise Daugherty reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH3
Louise Daugherty reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH2
Louise Daugherty reviewed gene: MYH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH14
Louise Daugherty reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYH10
Louise Daugherty reviewed gene: MYH10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYD88
Louise Daugherty reviewed gene: MYD88: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYCN
Louise Daugherty reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MYBPC1
Louise Daugherty reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MVK
Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MUSK
Louise Daugherty reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MUC1
Louise Daugherty reviewed gene: MUC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTTP
Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTRR
Louise Daugherty reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTR
Louise Daugherty reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTOR
Louise Daugherty reviewed gene: MTOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTO1
Louise Daugherty reviewed gene: MTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTMR2
Louise Daugherty reviewed gene: MTMR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTM1
Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTHFR
Louise Daugherty reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTHFD1
Louise Daugherty reviewed gene: MTHFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MTFMT
Louise Daugherty reviewed gene: MTFMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TY
Louise Daugherty reviewed gene: MT-TY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TW
Louise Daugherty reviewed gene: MT-TW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TV
Louise Daugherty reviewed gene: MT-TV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TS2
Louise Daugherty reviewed gene: MT-TS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TS1
Louise Daugherty reviewed gene: MT-TS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TR
Louise Daugherty reviewed gene: MT-TR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TQ
Louise Daugherty reviewed gene: MT-TQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TP
Louise Daugherty reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TN
Louise Daugherty reviewed gene: MT-TN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TM
Louise Daugherty reviewed gene: MT-TM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TL2
Louise Daugherty reviewed gene: MT-TL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TL1
Louise Daugherty reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TK
Louise Daugherty reviewed gene: MT-TK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TI
Louise Daugherty reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TH
Louise Daugherty reviewed gene: MT-TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TG
Louise Daugherty reviewed gene: MT-TG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TF
Louise Daugherty reviewed gene: MT-TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TE
Louise Daugherty reviewed gene: MT-TE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TD
Louise Daugherty reviewed gene: MT-TD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TC
Louise Daugherty reviewed gene: MT-TC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-TA
Louise Daugherty reviewed gene: MT-TA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-RNR1
Louise Daugherty reviewed gene: MT-RNR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ND6
Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ND5
Louise Daugherty reviewed gene: MT-ND5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ND4L
Louise Daugherty reviewed gene: MT-ND4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ND4
Louise Daugherty reviewed gene: MT-ND4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ND3
Louise Daugherty reviewed gene: MT-ND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ND2
Louise Daugherty reviewed gene: MT-ND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ND1
Louise Daugherty reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-CYB
Louise Daugherty reviewed gene: MT-CYB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-CO3
Louise Daugherty reviewed gene: MT-CO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-CO2
Louise Daugherty reviewed gene: MT-CO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-CO1
Louise Daugherty reviewed gene: MT-CO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ATP8
Louise Daugherty reviewed gene: MT-ATP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MT-ATP6
Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MSX2
Louise Daugherty reviewed gene: MSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MSX1
Louise Daugherty reviewed gene: MSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MSTO1
Louise Daugherty reviewed gene: MSTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MSN
Louise Daugherty reviewed gene: MSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MSMO1
Louise Daugherty reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MSL3
Louise Daugherty reviewed gene: MSL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MSH6
Louise Daugherty reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MS4A1
Louise Daugherty reviewed gene: MS4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MRPS34
Louise Daugherty reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MRPS22
Louise Daugherty reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MRPS2
Louise Daugherty reviewed gene: MRPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MRPL3
Louise Daugherty reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MRE11
Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPZ
Louise Daugherty reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPV17
Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPO
Louise Daugherty reviewed gene: MPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPLKIP
Louise Daugherty reviewed gene: MPLKIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPL
Louise Daugherty reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPIG6B
Louise Daugherty reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPI
Louise Daugherty reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPDU1
Louise Daugherty reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MPC1
Louise Daugherty reviewed gene: MPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MORC2
Louise Daugherty reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MOGS
Louise Daugherty reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MOCS2
Louise Daugherty reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MOCS1
Louise Daugherty reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MNX1
Louise Daugherty reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MMP21
Louise Daugherty reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MMP2
Louise Daugherty reviewed gene: MMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MMP13
Louise Daugherty reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MMADHC
Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MMACHC
Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MMAB
Louise Daugherty reviewed gene: MMAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MMAA
Louise Daugherty reviewed gene: MMAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MLYCD
Louise Daugherty reviewed gene: MLYCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MLC1
Louise Daugherty reviewed gene: MLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MKS1
Louise Daugherty reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MKKS
Louise Daugherty reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MITF
Louise Daugherty reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MIPEP
Louise Daugherty reviewed gene: MIPEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MID1
Louise Daugherty reviewed gene: MID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MICU1
Louise Daugherty reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MGP
Louise Daugherty reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MGME1
Louise Daugherty reviewed gene: MGME1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MGAT2
Louise Daugherty reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MFSD8
Louise Daugherty reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MFSD2A
Louise Daugherty reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MFRP
Louise Daugherty reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MFN2
Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MFF
Louise Daugherty reviewed gene: MFF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
METTL23
Louise Daugherty reviewed gene: METTL23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MESP2
Louise Daugherty reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MEOX1
Louise Daugherty reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MEIS2
Louise Daugherty reviewed gene: MEIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MEGF8
Louise Daugherty reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MEGF10
Louise Daugherty reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MEFV
Louise Daugherty reviewed gene: MEFV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MEF2C
Louise Daugherty reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MED23
Louise Daugherty reviewed gene: MED23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MED17
Louise Daugherty reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MED13L
Louise Daugherty reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MED12
Louise Daugherty reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MECR
Louise Daugherty reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MECP2
Louise Daugherty reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MECOM
Louise Daugherty reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MDH2
Louise Daugherty reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCPH1
Louise Daugherty reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCOLN1
Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCM4
Louise Daugherty reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCM3AP
Louise Daugherty reviewed gene: MCM3AP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCFD2
Louise Daugherty reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCEE
Louise Daugherty reviewed gene: MCEE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCCC2
Louise Daugherty reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MCCC1
Louise Daugherty reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MC2R
Louise Daugherty reviewed gene: MC2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MBTPS2
Louise Daugherty reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MBOAT7
Louise Daugherty reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MBD5
Louise Daugherty reviewed gene: MBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MATR3
Louise Daugherty reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MATN3
Louise Daugherty reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAT1A
Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAST1
Louise Daugherty reviewed gene: MAST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MASP2
Louise Daugherty reviewed gene: MASP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MASP1
Louise Daugherty reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MARVELD2
Louise Daugherty reviewed gene: MARVELD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MARS2
Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAPT
Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAPRE2
Louise Daugherty reviewed gene: MAPRE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAPKBP1
Louise Daugherty reviewed gene: MAPKBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAPK8IP3
Louise Daugherty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAP3K7
Louise Daugherty reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAP3K20
Louise Daugherty reviewed gene: MAP3K20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAP3K1
Louise Daugherty reviewed gene: MAP3K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAP2K2
Louise Daugherty reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAP2K1
Louise Daugherty reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAOA
Louise Daugherty reviewed gene: MAOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MANBA
Louise Daugherty reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAN2B1
Louise Daugherty reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAN1B1
Louise Daugherty reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MALT1
Louise Daugherty reviewed gene: MALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAGT1
Louise Daugherty reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAGI2
Louise Daugherty reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAGEL2
Louise Daugherty reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAFB
Louise Daugherty reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAF
Louise Daugherty reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MACF1
Louise Daugherty reviewed gene: MACF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAB21L2
Louise Daugherty reviewed gene: MAB21L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
MAB21L1
Louise Daugherty reviewed gene: MAB21L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LZTR1
Louise Daugherty reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LZTFL1
Louise Daugherty reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LYST
Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LYRM7
Louise Daugherty reviewed gene: LYRM7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LTBP4
Louise Daugherty reviewed gene: LTBP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LTBP3
Louise Daugherty reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LTBP2
Louise Daugherty reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRTOMT
Louise Daugherty reviewed gene: LRTOMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRSAM1
Louise Daugherty reviewed gene: LRSAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRRK2
Louise Daugherty reviewed gene: LRRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRRC6
Louise Daugherty reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRPPRC
Louise Daugherty reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRP5
Louise Daugherty reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRP4
Louise Daugherty reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRP2
Louise Daugherty reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRIG2
Louise Daugherty reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LRBA
Louise Daugherty reviewed gene: LRBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LPL
Louise Daugherty reviewed gene: LPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LPIN2
Louise Daugherty reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LPIN1
Louise Daugherty reviewed gene: LPIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LOXHD1
Louise Daugherty reviewed gene: LOXHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LONP1
Louise Daugherty reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LNPK
Louise Daugherty reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LMX1B
Louise Daugherty reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LMOD3
Louise Daugherty reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LMNB1
Louise Daugherty reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LMNA
Louise Daugherty reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LMBRD1
Louise Daugherty reviewed gene: LMBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LMBR1
Louise Daugherty reviewed gene: LMBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LMAN1
Louise Daugherty reviewed gene: LMAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LITAF
Louise Daugherty reviewed gene: LITAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LIPT2
Louise Daugherty reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LIPT1
Louise Daugherty reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LIPA
Louise Daugherty reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LINS1
Louise Daugherty reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LIG4
Louise Daugherty reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LIFR
Louise Daugherty reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LIAS
Louise Daugherty reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LHX4
Louise Daugherty reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LHX3
Louise Daugherty reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LHFPL5
Louise Daugherty reviewed gene: LHFPL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LGI4
Louise Daugherty reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LGI1
Louise Daugherty reviewed gene: LGI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LFNG
Louise Daugherty reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LEPR
Louise Daugherty reviewed gene: LEPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LEMD3
Louise Daugherty reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LDLRAP1
Louise Daugherty reviewed gene: LDLRAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LDLR
Louise Daugherty reviewed gene: LDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LDHA
Louise Daugherty reviewed gene: LDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LDB3
Louise Daugherty reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LCT
Louise Daugherty reviewed gene: LCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LCAT
Louise Daugherty reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LBR
Louise Daugherty reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAT
Louise Daugherty reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LARS2
Louise Daugherty reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LARP7
Louise Daugherty reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LARGE1
Louise Daugherty reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMTOR2
Louise Daugherty reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMP2
Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMC3
Louise Daugherty reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMC2
Louise Daugherty reviewed gene: LAMC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMB3
Louise Daugherty reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMB2
Louise Daugherty reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMB1
Louise Daugherty reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMA3
Louise Daugherty reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMA2
Louise Daugherty reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAMA1
Louise Daugherty reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
LAGE3
Louise Daugherty reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
L2HGDH
Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
L1CAM
Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KYNU
Louise Daugherty reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KRT6A
Louise Daugherty reviewed gene: KRT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KRT5
Louise Daugherty reviewed gene: KRT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KRT17
Louise Daugherty reviewed gene: KRT17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KRT16
Louise Daugherty reviewed gene: KRT16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KRT14
Louise Daugherty reviewed gene: KRT14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KRIT1
Louise Daugherty reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KRAS
Louise Daugherty reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KPTN
Louise Daugherty reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KNL1
Louise Daugherty reviewed gene: KNL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KNG1
Louise Daugherty reviewed gene: KNG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KMT5B
Louise Daugherty reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KMT2E
Louise Daugherty reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KMT2D
Louise Daugherty reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KMT2C
Louise Daugherty reviewed gene: KMT2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KMT2B
Louise Daugherty reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KMT2A
Louise Daugherty reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KLKB1
Louise Daugherty reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KLHL7
Louise Daugherty reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KLHL41
Louise Daugherty reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KLHL40
Louise Daugherty reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KLF1
Louise Daugherty reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIT
Louise Daugherty reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF7
Louise Daugherty reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF5C
Louise Daugherty reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF5A
Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF2A
Louise Daugherty reviewed gene: KIF2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF23
Louise Daugherty reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF22
Louise Daugherty reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF21A
Louise Daugherty reviewed gene: KIF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF1C
Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF1A
Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF14
Louise Daugherty reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIF11
Louise Daugherty reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIDINS220
Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIAA1109
Louise Daugherty reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KIAA0586
Louise Daugherty reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KDSR
Louise Daugherty reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KDM6A
Louise Daugherty reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KDM5C
Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KDM5B
Louise Daugherty reviewed gene: KDM5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KDM1A
Louise Daugherty reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCTD7
Louise Daugherty reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCTD3
Louise Daugherty reviewed gene: KCTD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCTD1
Louise Daugherty reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNT1
Louise Daugherty reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNQ5
Louise Daugherty reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNQ4
Louise Daugherty reviewed gene: KCNQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNQ3
Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNQ2
Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNQ1
Louise Daugherty reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNMA1
Louise Daugherty reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNK9
Louise Daugherty reviewed gene: KCNK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNK4
Louise Daugherty reviewed gene: KCNK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNJ6
Louise Daugherty reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNJ2
Louise Daugherty reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNJ11
Louise Daugherty reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNJ10
Louise Daugherty reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNJ1
Louise Daugherty reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNH1
Louise Daugherty reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNE1
Louise Daugherty reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCND3
Louise Daugherty reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNC3
Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNC1
Louise Daugherty reviewed gene: KCNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNB1
Louise Daugherty reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNA2
Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KCNA1
Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KBTBD13
Louise Daugherty reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KATNB1
Louise Daugherty reviewed gene: KATNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KAT6B
Louise Daugherty reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KAT6A
Louise Daugherty reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
KANSL1
Louise Daugherty reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
JUP
Louise Daugherty reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
JPH3
Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
JPH2
Louise Daugherty reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
JAM3
Louise Daugherty reviewed gene: JAM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
JAK3
Louise Daugherty reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
JAGN1
Louise Daugherty reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
JAG1
Louise Daugherty reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IVD
Louise Daugherty reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITSN2
Louise Daugherty reviewed gene: ITSN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITPR1
Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITPA
Louise Daugherty reviewed gene: ITPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITK
Louise Daugherty reviewed gene: ITK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGB4
Louise Daugherty reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGB3
Louise Daugherty reviewed gene: ITGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGB2
Louise Daugherty reviewed gene: ITGB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGA8
Louise Daugherty reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGA7
Louise Daugherty reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGA6
Louise Daugherty reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGA3
Louise Daugherty reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITGA2B
Louise Daugherty reviewed gene: ITGA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ITCH
Louise Daugherty reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ISG15
Louise Daugherty reviewed gene: ISG15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ISCU
Louise Daugherty reviewed gene: ISCU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ISCA2
Louise Daugherty reviewed gene: ISCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ISCA1
Louise Daugherty reviewed gene: ISCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IRX5
Louise Daugherty reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IRF8
Louise Daugherty reviewed gene: IRF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IRF6
Louise Daugherty reviewed gene: IRF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IRF2BPL
Louise Daugherty reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IRAK4
Louise Daugherty reviewed gene: IRAK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IQSEC2
Louise Daugherty reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IQCB1
Louise Daugherty reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INVS
Louise Daugherty reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INTU
Louise Daugherty reviewed gene: INTU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INTS1
Louise Daugherty reviewed gene: INTS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INSR
Louise Daugherty reviewed gene: INSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INPPL1
Louise Daugherty reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INPP5K
Louise Daugherty reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INPP5E
Louise Daugherty reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INO80
Louise Daugherty reviewed gene: INO80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
INF2
Louise Daugherty reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IMPAD1
Louise Daugherty reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ILDR1
Louise Daugherty reviewed gene: ILDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL7R
Louise Daugherty reviewed gene: IL7R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL36RN
Louise Daugherty reviewed gene: IL36RN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL2RG
Louise Daugherty reviewed gene: IL2RG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL2RA
Louise Daugherty reviewed gene: IL2RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL21R
Louise Daugherty reviewed gene: IL21R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL1RN
Louise Daugherty reviewed gene: IL1RN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL1RAPL1
Louise Daugherty reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL17RC
Louise Daugherty reviewed gene: IL17RC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL17RA
Louise Daugherty reviewed gene: IL17RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL12RB1
Louise Daugherty reviewed gene: IL12RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL12B
Louise Daugherty reviewed gene: IL12B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL11RA
Louise Daugherty reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL10RB
Louise Daugherty reviewed gene: IL10RB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IL10RA
Louise Daugherty reviewed gene: IL10RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IKZF1
Louise Daugherty reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IKBKG
Louise Daugherty reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IKBKB
Louise Daugherty reviewed gene: IKBKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IHH
Louise Daugherty reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGSF1
Louise Daugherty reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGLL1
Louise Daugherty reviewed gene: IGLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGKC
Louise Daugherty reviewed gene: IGKC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGHMBP2
Louise Daugherty reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGHM
Louise Daugherty reviewed gene: IGHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGFALS
Louise Daugherty reviewed gene: IGFALS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGF2
Louise Daugherty reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGF1R
Louise Daugherty reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IGF1
Louise Daugherty reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFT81
Louise Daugherty reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFT80
Louise Daugherty reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFT52
Louise Daugherty reviewed gene: IFT52: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFT43
Louise Daugherty reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFT172
Louise Daugherty reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFT140
Louise Daugherty reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFT122
Louise Daugherty reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFNGR2
Louise Daugherty reviewed gene: IFNGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFNGR1
Louise Daugherty reviewed gene: IFNGR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFITM5
Louise Daugherty reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IFIH1
Louise Daugherty reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IER3IP1
Louise Daugherty reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IDUA
Louise Daugherty reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IDS
Louise Daugherty reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IDH2
Louise Daugherty reviewed gene: IDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ICOS
Louise Daugherty reviewed gene: ICOS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IBA57
Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
IARS2
Louise Daugherty reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HYLS1
Louise Daugherty reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HYDIN
Louise Daugherty reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HUWE1
Louise Daugherty reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HTT
Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HTRA2
Louise Daugherty reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HTRA1
Louise Daugherty reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSPG2
Louise Daugherty reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSPD1
Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSPB8
Louise Daugherty reviewed gene: HSPB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSPB1
Louise Daugherty reviewed gene: HSPB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSF4
Louise Daugherty reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSD3B7
Louise Daugherty reviewed gene: HSD3B7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSD17B4
Louise Daugherty reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSD17B3
Louise Daugherty reviewed gene: HSD17B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HSD17B10
Louise Daugherty reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HRAS
Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HR
Louise Daugherty reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPSE2
Louise Daugherty reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPS6
Louise Daugherty reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPS5
Louise Daugherty reviewed gene: HPS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPS4
Louise Daugherty reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPS3
Louise Daugherty reviewed gene: HPS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPS1
Louise Daugherty reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPRT1
Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPGD
Louise Daugherty reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPD
Louise Daugherty reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HPCA
Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HOXD13
Louise Daugherty reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HOXC13
Louise Daugherty reviewed gene: HOXC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HOXA13
Louise Daugherty reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HOXA11
Louise Daugherty reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HOXA1
Louise Daugherty reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HOGA1
Louise Daugherty reviewed gene: HOGA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HNRNPU
Louise Daugherty reviewed gene: HNRNPU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HNRNPK
Louise Daugherty reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HNRNPH2
Louise Daugherty reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HNRNPH1
Louise Daugherty reviewed gene: HNRNPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HNF4A
Louise Daugherty reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HNF1B
Louise Daugherty reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HMGCS2
Louise Daugherty reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HMGCL
Louise Daugherty reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HMBS
Louise Daugherty reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HLCS
Louise Daugherty reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HK1
Louise Daugherty reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HIVEP2
Louise Daugherty reviewed gene: HIVEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HINT1
Louise Daugherty reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HIBCH
Louise Daugherty reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HGSNAT
Louise Daugherty reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HGD
Louise Daugherty reviewed gene: HGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HFE
Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HEXB
Louise Daugherty reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HEXA
Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HESX1
Louise Daugherty reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HES7
Louise Daugherty reviewed gene: HES7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HERC1
Louise Daugherty reviewed gene: HERC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HEPACAM
Louise Daugherty reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HELLS
Louise Daugherty reviewed gene: HELLS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HECW2
Louise Daugherty reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HDAC8
Louise Daugherty reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HDAC4
Louise Daugherty reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HCN2
Louise Daugherty reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HCN1
Louise Daugherty reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HCFC1
Louise Daugherty reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HCCS
Louise Daugherty reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HBB
Louise Daugherty reviewed gene: HBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HBA2
Louise Daugherty reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HBA1
Louise Daugherty reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HAX1
Louise Daugherty reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HAMP
Louise Daugherty reviewed gene: HAMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HADHB
Louise Daugherty reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HADHA
Louise Daugherty reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HADH
Louise Daugherty reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HACE1
Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
HAAO
Louise Daugherty reviewed gene: HAAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
H19
Louise Daugherty reviewed gene: H19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GZF1
Louise Daugherty reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GYS2
Louise Daugherty reviewed gene: GYS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GYS1
Louise Daugherty reviewed gene: GYS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GYG1
Louise Daugherty reviewed gene: GYG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GUSB
Louise Daugherty reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GUCY2C
Louise Daugherty reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GTPBP3
Louise Daugherty reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GTPBP2
Louise Daugherty reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GTF2H5
Louise Daugherty reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GSS
Louise Daugherty reviewed gene: GSS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GSC
Louise Daugherty reviewed gene: GSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRN
Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRM6
Louise Daugherty reviewed gene: GRM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRM1
Louise Daugherty reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIP1
Louise Daugherty reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIN2D
Louise Daugherty reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIN2B
Louise Daugherty reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIN2A
Louise Daugherty reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIN1
Louise Daugherty reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIK2
Louise Daugherty reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRID2
Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIA4
Louise Daugherty reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIA3
Louise Daugherty reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRIA2
Louise Daugherty reviewed gene: GRIA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRHPR
Louise Daugherty reviewed gene: GRHPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GRHL3
Louise Daugherty reviewed gene: GRHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPT2
Louise Daugherty reviewed gene: GPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPSM2
Louise Daugherty reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPR179
Louise Daugherty reviewed gene: GPR179: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPR143
Louise Daugherty reviewed gene: GPR143: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPI
Louise Daugherty reviewed gene: GPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPHN
Louise Daugherty reviewed gene: GPHN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPD1
Louise Daugherty reviewed gene: GPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPC6
Louise Daugherty reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPC3
Louise Daugherty reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GPAA1
Louise Daugherty reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GP9
Louise Daugherty reviewed gene: GP9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GP6
Louise Daugherty reviewed gene: GP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GP1BB
Louise Daugherty reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GP1BA
Louise Daugherty reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GOSR2
Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GORAB
Louise Daugherty reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNS
Louise Daugherty reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNPTG
Louise Daugherty reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNPTAB
Louise Daugherty reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNPAT
Louise Daugherty reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNMT
Louise Daugherty reviewed gene: GNMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNE
Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNB5
Louise Daugherty reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNB1
Louise Daugherty reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNAS
Louise Daugherty reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNAO1
Louise Daugherty reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNAL
Louise Daugherty reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNAI3
Louise Daugherty reviewed gene: GNAI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GNAI1
Louise Daugherty reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GMPPB
Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GMPPA
Louise Daugherty reviewed gene: GMPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GMNN
Louise Daugherty reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GM2A
Louise Daugherty reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLYCTK
Louise Daugherty reviewed gene: GLYCTK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLUL
Louise Daugherty reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLUD1
Louise Daugherty reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLRX5
Louise Daugherty reviewed gene: GLRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLRB
Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLRA1
Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLMN
Louise Daugherty reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLIS3
Louise Daugherty reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLI3
Louise Daugherty reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLI2
Louise Daugherty reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLI1
Louise Daugherty reviewed gene: GLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLE1
Louise Daugherty reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLDN
Louise Daugherty reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLDC
Louise Daugherty reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLB1
Louise Daugherty reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GLA
Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GK
Louise Daugherty reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GJC2
Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GJB3
Louise Daugherty reviewed gene: GJB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GJB2
Louise Daugherty reviewed gene: GJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GJB1
Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GJA8
Louise Daugherty reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GJA3
Louise Daugherty reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GJA1
Louise Daugherty reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GIPC3
Louise Daugherty reviewed gene: GIPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GINS1
Louise Daugherty reviewed gene: GINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GHRHR
Louise Daugherty reviewed gene: GHRHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GHR
Louise Daugherty reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GH1
Louise Daugherty reviewed gene: GH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GGCX
Louise Daugherty reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GFPT1
Louise Daugherty reviewed gene: GFPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GFM2
Louise Daugherty reviewed gene: GFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GFM1
Louise Daugherty reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GFI1B
Louise Daugherty reviewed gene: GFI1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GFER
Louise Daugherty reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GFAP
Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GDI1
Louise Daugherty reviewed gene: GDI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GDF6
Louise Daugherty reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GDF5
Louise Daugherty reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GDAP1
Louise Daugherty reviewed gene: GDAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GCLC
Louise Daugherty reviewed gene: GCLC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GCK
Louise Daugherty reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GCH1
Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GCDH
Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GBE1
Louise Daugherty reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GBA2
Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GBA
Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GATM
Louise Daugherty reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GATAD2B
Louise Daugherty reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GATA6
Louise Daugherty reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GATA4
Louise Daugherty reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GATA3
Louise Daugherty reviewed gene: GATA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GATA2
Louise Daugherty reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GATA1
Louise Daugherty reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GAS8
Louise Daugherty reviewed gene: GAS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GANAB
Louise Daugherty reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GAN
Louise Daugherty reviewed gene: GAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GAMT
Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GALT
Louise Daugherty reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GALNT3
Louise Daugherty reviewed gene: GALNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GALNS
Louise Daugherty reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GALK1
Louise Daugherty reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GALE
Louise Daugherty reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GALC
Louise Daugherty reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GABRG2
Louise Daugherty reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GABRB3
Louise Daugherty reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GABRB2
Louise Daugherty reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GABRA2
Louise Daugherty reviewed gene: GABRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GABRA1
Louise Daugherty reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GABBR2
Louise Daugherty reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
GAA
Louise Daugherty reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
G6PD
Louise Daugherty reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
G6PC3
Louise Daugherty reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
G6PC
Louise Daugherty reviewed gene: G6PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FZD6
Louise Daugherty reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FZD2
Louise Daugherty reviewed gene: FZD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FYCO1
Louise Daugherty reviewed gene: FYCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FYB1
Louise Daugherty reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FXN
Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FUT8
Louise Daugherty reviewed gene: FUT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FUCA1
Louise Daugherty reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FTSJ1
Louise Daugherty reviewed gene: FTSJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FTL
Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FTCD
Louise Daugherty reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FRRS1L
Louise Daugherty reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FRMPD4
Louise Daugherty reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FRMD7
Louise Daugherty reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FREM2
Louise Daugherty reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FREM1
Louise Daugherty reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FRAS1
Louise Daugherty reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXRED1
Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXP3
Louise Daugherty reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXP2
Louise Daugherty reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXP1
Louise Daugherty reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXN1
Louise Daugherty reviewed gene: FOXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXG1
Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXF1
Louise Daugherty reviewed gene: FOXF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXE3
Louise Daugherty reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXE1
Louise Daugherty reviewed gene: FOXE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXC2
Louise Daugherty reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOXC1
Louise Daugherty reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FOLR1
Louise Daugherty reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FN1
Louise Daugherty reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FMR1
Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FMO3
Louise Daugherty reviewed gene: FMO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FMN2
Louise Daugherty reviewed gene: FMN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLVCR2
Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLVCR1
Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLT4
Louise Daugherty reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLNC
Louise Daugherty reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLNB
Louise Daugherty reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLNA
Louise Daugherty reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLI1
Louise Daugherty reviewed gene: FLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLCN
Louise Daugherty reviewed gene: FLCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FLAD1
Louise Daugherty reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FKTN
Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FKRP
Louise Daugherty reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FKBP14
Louise Daugherty reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FKBP10
Louise Daugherty reviewed gene: FKBP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FIG4
Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FHL1
Louise Daugherty reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FH
Louise Daugherty reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGG
Louise Daugherty reviewed gene: FGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGFR3
Louise Daugherty reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGFR2
Louise Daugherty reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGFR1
Louise Daugherty reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGF8
Louise Daugherty reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGF3
Louise Daugherty reviewed gene: FGF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGF23
Louise Daugherty reviewed gene: FGF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGF16
Louise Daugherty reviewed gene: FGF16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGF14
Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGF12
Louise Daugherty reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGF10
Louise Daugherty reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGD4
Louise Daugherty reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGD1
Louise Daugherty reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGB
Louise Daugherty reviewed gene: FGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FGA
Louise Daugherty reviewed gene: FGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FERMT3
Louise Daugherty reviewed gene: FERMT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FECH
Louise Daugherty reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FDXR
Louise Daugherty reviewed gene: FDXR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FDX2
Louise Daugherty reviewed gene: FDX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FCN3
Louise Daugherty reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FCGR3B
Louise Daugherty reviewed gene: FCGR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FCGR3A
Louise Daugherty reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBXO7
Louise Daugherty reviewed gene: FBXO7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBXO11
Louise Daugherty reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBXL4
Louise Daugherty reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBXL3
Louise Daugherty reviewed gene: FBXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBP1
Louise Daugherty reviewed gene: FBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBN2
Louise Daugherty reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBN1
Louise Daugherty reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FBLN5
Louise Daugherty reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAT4
Louise Daugherty reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FASLG
Louise Daugherty reviewed gene: FASLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAS
Louise Daugherty reviewed gene: FAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FARS2
Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAR1
Louise Daugherty reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCL
Louise Daugherty reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCI
Louise Daugherty reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCG
Louise Daugherty reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCF
Louise Daugherty reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCE
Louise Daugherty reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCD2
Louise Daugherty reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCC
Louise Daugherty reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCB
Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FANCA
Louise Daugherty reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAM20C
Louise Daugherty reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAM20A
Louise Daugherty reviewed gene: FAM20A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAM161A
Louise Daugherty reviewed gene: FAM161A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAM126A
Louise Daugherty reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAM111B
Louise Daugherty reviewed gene: FAM111B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAM111A
Louise Daugherty reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FAH
Louise Daugherty reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FADD
Louise Daugherty reviewed gene: FADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
FA2H
Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F9
Louise Daugherty reviewed gene: F9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F8
Louise Daugherty reviewed gene: F8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F7
Louise Daugherty reviewed gene: F7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F5
Louise Daugherty reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F2
Louise Daugherty reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F13B
Louise Daugherty reviewed gene: F13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F13A1
Louise Daugherty reviewed gene: F13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F12
Louise Daugherty reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F11
Louise Daugherty reviewed gene: F11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
F10
Louise Daugherty reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EZH2
Louise Daugherty reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EYA4
Louise Daugherty reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EYA1
Louise Daugherty reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EXTL3
Louise Daugherty reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EXT2
Louise Daugherty reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EXT1
Louise Daugherty reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EXOSC3
Louise Daugherty reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EVC2
Louise Daugherty reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EVC
Louise Daugherty reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ETV6
Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ETHE1
Louise Daugherty reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ETFDH
Louise Daugherty reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ETFB
Louise Daugherty reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ETFA
Louise Daugherty reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ESRRB
Louise Daugherty reviewed gene: ESRRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ESCO2
Louise Daugherty reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERLIN2
Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERLIN1
Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERF
Louise Daugherty reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC8
Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC6L2
Louise Daugherty reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC6
Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC5
Louise Daugherty reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC4
Louise Daugherty reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC3
Louise Daugherty reviewed gene: ERCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC2
Louise Daugherty reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ERCC1
Louise Daugherty reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EPM2A
Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EPHB4
Louise Daugherty reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EPG5
Louise Daugherty reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EPB42
Louise Daugherty reviewed gene: EPB42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EPB41
Louise Daugherty reviewed gene: EPB41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EP300
Louise Daugherty reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EOGT
Louise Daugherty reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ENTPD1
Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ENPP1
Louise Daugherty reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ENO3
Louise Daugherty reviewed gene: ENO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ENG
Louise Daugherty reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EMX2
Louise Daugherty reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EML1
Louise Daugherty reviewed gene: EML1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EMD
Louise Daugherty reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EMC1
Louise Daugherty reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ELP2
Louise Daugherty reviewed gene: ELP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ELP1
Louise Daugherty reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ELOVL5
Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ELOVL4
Louise Daugherty reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ELN
Louise Daugherty reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ELANE
Louise Daugherty reviewed gene: ELANE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ELAC2
Louise Daugherty reviewed gene: ELAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF4A3
Louise Daugherty reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF3F
Louise Daugherty reviewed gene: EIF3F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF2S3
Louise Daugherty reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF2B5
Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF2B4
Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF2B3
Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF2B2
Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF2B1
Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EIF2AK3
Louise Daugherty reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EHMT1
Louise Daugherty reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EGR2
Louise Daugherty reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EFTUD2
Louise Daugherty reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EFNB1
Louise Daugherty reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EFHC1
Louise Daugherty reviewed gene: EFHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EEF1A2
Louise Daugherty reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EED
Louise Daugherty reviewed gene: EED: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EDNRB
Louise Daugherty reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EDNRA
Louise Daugherty reviewed gene: EDNRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EDARADD
Louise Daugherty reviewed gene: EDARADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EDAR
Louise Daugherty reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EDA
Louise Daugherty reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ECHS1
Louise Daugherty reviewed gene: ECHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ECEL1
Louise Daugherty reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EBP
Louise Daugherty reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EBF3
Louise Daugherty reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
EARS2
Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DZIP1L
Louise Daugherty reviewed gene: DZIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DYSF
Louise Daugherty reviewed gene: DYSF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DYRK1A
Louise Daugherty reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DYNC2LI1
Louise Daugherty reviewed gene: DYNC2LI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DYNC2H1
Louise Daugherty reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DYNC1H1
Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DYM
Louise Daugherty reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DVL3
Louise Daugherty reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DVL1
Louise Daugherty reviewed gene: DVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DUOX2
Louise Daugherty reviewed gene: DUOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DTNBP1
Louise Daugherty reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DSTYK
Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DSPP
Louise Daugherty reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DSP
Louise Daugherty reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPYS
Louise Daugherty reviewed gene: DPYS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPYD
Louise Daugherty reviewed gene: DPYD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPP6
Louise Daugherty reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPM3
Louise Daugherty reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPM2
Louise Daugherty reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPM1
Louise Daugherty reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPH1
Louise Daugherty reviewed gene: DPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPF2
Louise Daugherty reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DPAGT1
Louise Daugherty reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DONSON
Louise Daugherty reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DOLK
Louise Daugherty reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DOK7
Louise Daugherty reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DOCK8
Louise Daugherty reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DOCK7
Louise Daugherty reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DOCK6
Louise Daugherty reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DOCK3
Louise Daugherty reviewed gene: DOCK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DOCK2
Louise Daugherty reviewed gene: DOCK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNMT3B
Louise Daugherty reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNMT3A
Louise Daugherty reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNMT1
Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNM2
Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNM1L
Louise Daugherty reviewed gene: DNM1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNM1
Louise Daugherty reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNASE2
Louise Daugherty reviewed gene: DNASE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAJC5
Louise Daugherty reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAJC21
Louise Daugherty reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAJC19
Louise Daugherty reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAJC12
Louise Daugherty reviewed gene: DNAJC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAJB6
Louise Daugherty reviewed gene: DNAJB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAJB11
Louise Daugherty reviewed gene: DNAJB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAI1
Louise Daugherty reviewed gene: DNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAH9
Louise Daugherty reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAH5
Louise Daugherty reviewed gene: DNAH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAH11
Louise Daugherty reviewed gene: DNAH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAAF4
Louise Daugherty reviewed gene: DNAAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAAF3
Louise Daugherty reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNAAF1
Louise Daugherty reviewed gene: DNAAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DNA2
Louise Daugherty reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DMPK
Louise Daugherty reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DMP1
Louise Daugherty reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DMD
Louise Daugherty reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLX5
Louise Daugherty reviewed gene: DLX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLX3
Louise Daugherty reviewed gene: DLX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLL4
Louise Daugherty reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLL3
Louise Daugherty reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLG4
Louise Daugherty reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLG3
Louise Daugherty reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLD
Louise Daugherty reviewed gene: DLD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DLAT
Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DKC1
Louise Daugherty reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DISP1
Louise Daugherty reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DIS3L2
Louise Daugherty reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DIAPH1
Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHX30
Louise Daugherty reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHTKD1
Louise Daugherty reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHPS
Louise Daugherty reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHODH
Louise Daugherty reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHFR
Louise Daugherty reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHDDS
Louise Daugherty reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHCR7
Louise Daugherty reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DHCR24
Louise Daugherty reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DGUOK
Louise Daugherty reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DGKE
Louise Daugherty reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DES
Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DEPDC5
Louise Daugherty reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DENND5A
Louise Daugherty reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DEGS1
Louise Daugherty reviewed gene: DEGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DEAF1
Louise Daugherty reviewed gene: DEAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDX59
Louise Daugherty reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDX3X
Louise Daugherty reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDX11
Louise Daugherty reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDR2
Louise Daugherty reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDHD2
Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDHD1
Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDC
Louise Daugherty reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DDB2
Louise Daugherty reviewed gene: DDB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCX
Louise Daugherty reviewed gene: DCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCTN1
Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCPS
Louise Daugherty reviewed gene: DCPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCLRE1C
Louise Daugherty reviewed gene: DCLRE1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCLRE1B
Louise Daugherty reviewed gene: DCLRE1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCHS1
Louise Daugherty reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCDC2
Louise Daugherty reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCC
Louise Daugherty reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DCAF17
Louise Daugherty reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DBT
Louise Daugherty reviewed gene: DBT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DBH
Louise Daugherty reviewed gene: DBH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DARS2
Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DAG1
Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
DAB1
Louise Daugherty reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
D2HGDH
Louise Daugherty reviewed gene: D2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP7B1
Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP4F22
Louise Daugherty reviewed gene: CYP4F22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP2U1
Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP27B1
Louise Daugherty reviewed gene: CYP27B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP27A1
Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP21A2
Louise Daugherty reviewed gene: CYP21A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP1B1
Louise Daugherty reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP17A1
Louise Daugherty reviewed gene: CYP17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP11B1
Louise Daugherty reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYP11A1
Louise Daugherty reviewed gene: CYP11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYFIP2
Louise Daugherty reviewed gene: CYFIP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYCS
Louise Daugherty reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYC1
Louise Daugherty reviewed gene: CYC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYBB
Louise Daugherty reviewed gene: CYBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYBA
Louise Daugherty reviewed gene: CYBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CYB5R3
Louise Daugherty reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CXCR4
Louise Daugherty reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CWF19L1
Louise Daugherty reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CWC27
Louise Daugherty reviewed gene: CWC27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CUX2
Louise Daugherty reviewed gene: CUX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CUX1
Louise Daugherty reviewed gene: CUX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CUL7
Louise Daugherty reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CUL4B
Louise Daugherty reviewed gene: CUL4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CUBN
Louise Daugherty reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTSK
Louise Daugherty reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTSF
Louise Daugherty reviewed gene: CTSF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTSD
Louise Daugherty reviewed gene: CTSD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTSC
Louise Daugherty reviewed gene: CTSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTSA
Louise Daugherty reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTPS1
Louise Daugherty reviewed gene: CTPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTNS
Louise Daugherty reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTNND1
Louise Daugherty reviewed gene: CTNND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTNNB1
Louise Daugherty reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTNNA2
Louise Daugherty reviewed gene: CTNNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTLA4
Louise Daugherty reviewed gene: CTLA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTH
Louise Daugherty reviewed gene: CTH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTDP1
Louise Daugherty reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTCF
Louise Daugherty reviewed gene: CTCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTC1
Louise Daugherty reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CTBP1
Louise Daugherty reviewed gene: CTBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSTB
Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSPP1
Louise Daugherty reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSNK2B
Louise Daugherty reviewed gene: CSNK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSNK2A1
Louise Daugherty reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSF3R
Louise Daugherty reviewed gene: CSF3R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSF2RB
Louise Daugherty reviewed gene: CSF2RB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSF2RA
Louise Daugherty reviewed gene: CSF2RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CSF1R
Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYGD
Louise Daugherty reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYGC
Louise Daugherty reviewed gene: CRYGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYBB3
Louise Daugherty reviewed gene: CRYBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYBB2
Louise Daugherty reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYBB1
Louise Daugherty reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYBA4
Louise Daugherty reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYBA1
Louise Daugherty reviewed gene: CRYBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYAB
Louise Daugherty reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRYAA
Louise Daugherty reviewed gene: CRYAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRX
Louise Daugherty reviewed gene: CRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRTAP
Louise Daugherty reviewed gene: CRTAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRLF1
Louise Daugherty reviewed gene: CRLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRIPT
Louise Daugherty reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CREBBP
Louise Daugherty reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRB2
Louise Daugherty reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRB1
Louise Daugherty reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CRADD
Louise Daugherty reviewed gene: CRADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CR2
Louise Daugherty reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CPT2
Louise Daugherty reviewed gene: CPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CPT1A
Louise Daugherty reviewed gene: CPT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CPS1
Louise Daugherty reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CPOX
Louise Daugherty reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CPA6
Louise Daugherty reviewed gene: CPA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CP
Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COX7B
Louise Daugherty reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COX6B1
Louise Daugherty reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COX6A1
Louise Daugherty reviewed gene: COX6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COX20
Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COX15
Louise Daugherty reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COX10
Louise Daugherty reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CORO1A
Louise Daugherty reviewed gene: CORO1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COQ9
Louise Daugherty reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COQ8B
Louise Daugherty reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COQ8A
Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COQ6
Louise Daugherty reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COQ4
Louise Daugherty reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COQ2
Louise Daugherty reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COPA
Louise Daugherty reviewed gene: COPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COMP
Louise Daugherty reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COLQ
Louise Daugherty reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COLEC11
Louise Daugherty reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COLEC10
Louise Daugherty reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL9A3
Louise Daugherty reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL9A2
Louise Daugherty reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL9A1
Louise Daugherty reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL7A1
Louise Daugherty reviewed gene: COL7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL6A3
Louise Daugherty reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL6A2
Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL6A1
Louise Daugherty reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL5A2
Louise Daugherty reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL5A1
Louise Daugherty reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL4A5
Louise Daugherty reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL4A4
Louise Daugherty reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL4A3
Louise Daugherty reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL4A2
Louise Daugherty reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL4A1
Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL3A1
Louise Daugherty reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL2A1
Louise Daugherty reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL1A2
Louise Daugherty reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL1A1
Louise Daugherty reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL18A1
Louise Daugherty reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL17A1
Louise Daugherty reviewed gene: COL17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL13A1
Louise Daugherty reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL12A1
Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL11A2
Louise Daugherty reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL11A1
Louise Daugherty reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COL10A1
Louise Daugherty reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COG8
Louise Daugherty reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COG7
Louise Daugherty reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COG6
Louise Daugherty reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COG5
Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COG4
Louise Daugherty reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COG1
Louise Daugherty reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COCH
Louise Daugherty reviewed gene: COCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COASY
Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COA7
Louise Daugherty reviewed gene: COA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
COA6
Louise Daugherty reviewed gene: COA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNTNAP2
Louise Daugherty reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNTNAP1
Louise Daugherty reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNPY3
Louise Daugherty reviewed gene: CNPY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNOT3
Louise Daugherty reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNOT1
Louise Daugherty reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNNM2
Louise Daugherty reviewed gene: CNNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNKSR2
Louise Daugherty reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNGB3
Louise Daugherty reviewed gene: CNGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CNBP
Louise Daugherty reviewed gene: CNBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLTC
Louise Daugherty reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLRN1
Louise Daugherty reviewed gene: CLRN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLPP
Louise Daugherty reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLPB
Louise Daugherty reviewed gene: CLPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLP1
Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLN8
Louise Daugherty reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLN6
Louise Daugherty reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLN5
Louise Daugherty reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLN3
Louise Daugherty reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLDN19
Louise Daugherty reviewed gene: CLDN19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLDN16
Louise Daugherty reviewed gene: CLDN16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLDN14
Louise Daugherty reviewed gene: CLDN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLDN1
Louise Daugherty reviewed gene: CLDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLCN7
Louise Daugherty reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLCN5
Louise Daugherty reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLCN4
Louise Daugherty reviewed gene: CLCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CLCN2
Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CKAP2L
Louise Daugherty reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CIT
Louise Daugherty reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CISD2
Louise Daugherty reviewed gene: CISD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CIITA
Louise Daugherty reviewed gene: CIITA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CIC
Louise Daugherty reviewed gene: CIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CIB2
Louise Daugherty reviewed gene: CIB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHUK
Louise Daugherty reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHSY1
Louise Daugherty reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHST6
Louise Daugherty reviewed gene: CHST6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHST3
Louise Daugherty reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHST14
Louise Daugherty reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRNG
Louise Daugherty reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRNE
Louise Daugherty reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRND
Louise Daugherty reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRNB2
Louise Daugherty reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRNB1
Louise Daugherty reviewed gene: CHRNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRNA4
Louise Daugherty reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRNA2
Louise Daugherty reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRNA1
Louise Daugherty reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHRDL1
Louise Daugherty reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHMP2B
Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHMP1A
Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHM
Louise Daugherty reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHKB
Louise Daugherty reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHD8
Louise Daugherty reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHD7
Louise Daugherty reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHD4
Louise Daugherty reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHD3
Louise Daugherty reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHD2
Louise Daugherty reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHCHD10
Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHAT
Louise Daugherty reviewed gene: CHAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CHAMP1
Louise Daugherty reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFTR
Louise Daugherty reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFP
Louise Daugherty reviewed gene: CFP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFL2
Louise Daugherty reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFI
Louise Daugherty reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFHR5
Louise Daugherty reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFH
Louise Daugherty reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFD
Louise Daugherty reviewed gene: CFD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CFC1
Louise Daugherty reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP83
Louise Daugherty reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP63
Louise Daugherty reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP57
Louise Daugherty reviewed gene: CEP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP41
Louise Daugherty reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP290
Louise Daugherty reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP164
Louise Daugherty reviewed gene: CEP164: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP152
Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP135
Louise Daugherty reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP120
Louise Daugherty reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEP104
Louise Daugherty reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CENPJ
Louise Daugherty reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CENPF
Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CEBPE
Louise Daugherty reviewed gene: CEBPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDX1
Louise Daugherty reviewed gene: CDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDT1
Louise Daugherty reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDSN
Louise Daugherty reviewed gene: CDSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDON
Louise Daugherty reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDKN1C
Louise Daugherty reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDKL5
Louise Daugherty reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDK8
Louise Daugherty reviewed gene: CDK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDK5RAP2
Louise Daugherty reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDK13
Louise Daugherty reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDK10
Louise Daugherty reviewed gene: CDK10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDH3
Louise Daugherty reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDH23
Louise Daugherty reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDH15
Louise Daugherty reviewed gene: CDH15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDH11
Louise Daugherty reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDH1
Louise Daugherty reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDCA7
Louise Daugherty reviewed gene: CDCA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDC45
Louise Daugherty reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDC42
Louise Daugherty reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CDAN1
Louise Daugherty reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD8A
Louise Daugherty reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD81
Louise Daugherty reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD79B
Louise Daugherty reviewed gene: CD79B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD79A
Louise Daugherty reviewed gene: CD79A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD70
Louise Daugherty reviewed gene: CD70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD59
Louise Daugherty reviewed gene: CD59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD55
Louise Daugherty reviewed gene: CD55: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD40LG
Louise Daugherty reviewed gene: CD40LG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD40
Louise Daugherty reviewed gene: CD40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD3G
Louise Daugherty reviewed gene: CD3G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD3E
Louise Daugherty reviewed gene: CD3E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD3D
Louise Daugherty reviewed gene: CD3D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD27
Louise Daugherty reviewed gene: CD27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD247
Louise Daugherty reviewed gene: CD247: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CD19
Louise Daugherty reviewed gene: CD19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCT5
Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCNO
Louise Daugherty reviewed gene: CCNO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCND2
Louise Daugherty reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC88C
Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC8
Louise Daugherty reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC65
Louise Daugherty reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC47
Louise Daugherty reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC40
Louise Daugherty reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC39
Louise Daugherty reviewed gene: CCDC39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC22
Louise Daugherty reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC115
Louise Daugherty reviewed gene: CCDC115: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC114
Louise Daugherty reviewed gene: CCDC114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCDC103
Louise Daugherty reviewed gene: CCDC103: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CCBE1
Louise Daugherty reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CC2D2A
Louise Daugherty reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CC2D1A
Louise Daugherty reviewed gene: CC2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CBS
Louise Daugherty reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CBL
Louise Daugherty reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAVIN1
Louise Daugherty reviewed gene: CAVIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAV3
Louise Daugherty reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAT
Louise Daugherty reviewed gene: CAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CASR
Louise Daugherty reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CASQ2
Louise Daugherty reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CASQ1
Louise Daugherty reviewed gene: CASQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CASP10
Louise Daugherty reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CASK
Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CARS2
Louise Daugherty reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CARMIL2
Louise Daugherty reviewed gene: CARMIL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CARD9
Louise Daugherty reviewed gene: CARD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CARD14
Louise Daugherty reviewed gene: CARD14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CARD11
Louise Daugherty reviewed gene: CARD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAPN3
Louise Daugherty reviewed gene: CAPN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAPN1
Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CANT1
Louise Daugherty reviewed gene: CANT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAMTA1
Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAMK2B
Louise Daugherty reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAMK2A
Louise Daugherty reviewed gene: CAMK2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CAD
Louise Daugherty reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNB4
Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1S
Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1G
Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1F
Louise Daugherty reviewed gene: CACNA1F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1E
Louise Daugherty reviewed gene: CACNA1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1D
Louise Daugherty reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1C
Louise Daugherty reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1B
Louise Daugherty reviewed gene: CACNA1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CACNA1A
Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CA8
Louise Daugherty reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CA5A
Louise Daugherty reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
CA2
Louise Daugherty reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C9orf72
Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C9
Louise Daugherty reviewed gene: C9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C8orf37
Louise Daugherty reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C8G
Louise Daugherty reviewed gene: C8G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C8B
Louise Daugherty reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C8A
Louise Daugherty reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C7
Louise Daugherty reviewed gene: C7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C6
Louise Daugherty reviewed gene: C6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C5
Louise Daugherty reviewed gene: C5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C4B
Louise Daugherty reviewed gene: C4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C4A
Louise Daugherty reviewed gene: C4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C3
Louise Daugherty reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C2CD3
Louise Daugherty reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C2
Louise Daugherty reviewed gene: C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C1S
Louise Daugherty reviewed gene: C1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C1R
Louise Daugherty reviewed gene: C1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C1QC
Louise Daugherty reviewed gene: C1QC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C1QBP
Louise Daugherty reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C1QB
Louise Daugherty reviewed gene: C1QB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C1QA
Louise Daugherty reviewed gene: C1QA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C19orf12
Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C15orf41
Louise Daugherty reviewed gene: C15orf41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C12orf65
Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C12orf57
Louise Daugherty reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
C12orf4
Louise Daugherty reviewed gene: C12orf4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BUB1B
Louise Daugherty reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BTK
Louise Daugherty reviewed gene: BTK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BTD
Louise Daugherty reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BSND
Louise Daugherty reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BSCL2
Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRWD3
Louise Daugherty reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRSK2
Louise Daugherty reviewed gene: BRSK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRPF1
Louise Daugherty reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRIP1
Louise Daugherty reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRF1
Louise Daugherty reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRD4
Louise Daugherty reviewed gene: BRD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRCA2
Louise Daugherty reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRCA1
Louise Daugherty reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRAT1
Louise Daugherty reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BRAF
Louise Daugherty reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BPTF
Louise Daugherty reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BOLA3
Louise Daugherty reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BNC2
Louise Daugherty reviewed gene: BNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BMPR1B
Louise Daugherty reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BMPR1A
Louise Daugherty reviewed gene: BMPR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BMPER
Louise Daugherty reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BMP4
Louise Daugherty reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BMP2
Louise Daugherty reviewed gene: BMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BMP1
Louise Daugherty reviewed gene: BMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BLOC1S6
Louise Daugherty reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BLOC1S3
Louise Daugherty reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BLM
Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BIN1
Louise Daugherty reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BICD2
Louise Daugherty reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BHLHA9
Louise Daugherty reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BGN
Louise Daugherty reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BFSP2
Louise Daugherty reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BEAN1
Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCS1L
Louise Daugherty reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCOR
Louise Daugherty reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCL11B
Louise Daugherty reviewed gene: BCL11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCL11A
Louise Daugherty reviewed gene: BCL11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCKDK
Louise Daugherty reviewed gene: BCKDK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCKDHB
Louise Daugherty reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCKDHA
Louise Daugherty reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BCAP31
Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS9
Louise Daugherty reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS7
Louise Daugherty reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS5
Louise Daugherty reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS4
Louise Daugherty reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS2
Louise Daugherty reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS12
Louise Daugherty reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS10
Louise Daugherty reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BBS1
Louise Daugherty reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BAG3
Louise Daugherty reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BACH2
Louise Daugherty reviewed gene: BACH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
BAAT
Louise Daugherty reviewed gene: BAAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B9D2
Louise Daugherty reviewed gene: B9D2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B4GAT1
Louise Daugherty reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B4GALT7
Louise Daugherty reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B4GALT1
Louise Daugherty reviewed gene: B4GALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B4GALNT1
Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B3GLCT
Louise Daugherty reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B3GAT3
Louise Daugherty reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B3GALT6
Louise Daugherty reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B3GALNT2
Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
B2M
Louise Daugherty reviewed gene: B2M: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AVPR2
Louise Daugherty reviewed gene: AVPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AUTS2
Louise Daugherty reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AUH
Louise Daugherty reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATXN7
Louise Daugherty reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATXN3
Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATXN2
Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATXN10
Louise Daugherty reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATXN1
Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATRX
Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATR
Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP8B1
Louise Daugherty reviewed gene: ATP8B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP7B
Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP7A
Louise Daugherty reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP6V1B2
Louise Daugherty reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP6V1B1
Louise Daugherty reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP6V1A
Louise Daugherty reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP6V0A2
Louise Daugherty reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP6AP2
Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP6AP1
Louise Daugherty reviewed gene: ATP6AP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP2A1
Louise Daugherty reviewed gene: ATP2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP1A3
Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP1A2
Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP1A1
Louise Daugherty reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATP13A2
Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATN1
Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATM
Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATL1
Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATIC
Louise Daugherty reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATCAY
Louise Daugherty reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATAD3A
Louise Daugherty reviewed gene: ATAD3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ATAD1
Louise Daugherty reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASXL3
Louise Daugherty reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASXL2
Louise Daugherty reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASXL1
Louise Daugherty reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASS1
Louise Daugherty reviewed gene: ASS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASPM
Louise Daugherty reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASPA
Louise Daugherty reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASNS
Louise Daugherty reviewed gene: ASNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASL
Louise Daugherty reviewed gene: ASL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASH1L
Louise Daugherty reviewed gene: ASH1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASCC1
Louise Daugherty reviewed gene: ASCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ASAH1
Louise Daugherty reviewed gene: ASAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARX
Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARV1
Louise Daugherty reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARSB
Louise Daugherty reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARSA
Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARPC1B
Louise Daugherty reviewed gene: ARPC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARMC9
Louise Daugherty reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARMC4
Louise Daugherty reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARL6
Louise Daugherty reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARL13B
Louise Daugherty reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARID2
Louise Daugherty reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARID1B
Louise Daugherty reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARID1A
Louise Daugherty reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARHGEF9
Louise Daugherty reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARHGDIA
Louise Daugherty reviewed gene: ARHGDIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARHGAP31
Louise Daugherty reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARG1
Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARFGEF2
Louise Daugherty reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ARCN1
Louise Daugherty reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AR
Louise Daugherty reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APTX
Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APRT
Louise Daugherty reviewed gene: APRT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APOE
Louise Daugherty reviewed gene: APOE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APOC2
Louise Daugherty reviewed gene: APOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APOB
Louise Daugherty reviewed gene: APOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APOA5
Louise Daugherty reviewed gene: APOA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APOA1
Louise Daugherty reviewed gene: APOA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
APC
Louise Daugherty reviewed gene: APC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP5Z1
Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP4S1
Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP4M1
Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP4E1
Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP4B1
Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP3D1
Louise Daugherty reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP3B2
Louise Daugherty reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP3B1
Louise Daugherty reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP2M1
Louise Daugherty reviewed gene: AP2M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP1S2
Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AP1S1
Louise Daugherty reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANTXR2
Louise Daugherty reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANTXR1
Louise Daugherty reviewed gene: ANTXR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANOS1
Louise Daugherty reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANO6
Louise Daugherty reviewed gene: ANO6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANO5
Louise Daugherty reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANO3
Louise Daugherty reviewed gene: ANO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANO10
Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANKS6
Louise Daugherty reviewed gene: ANKS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANKRD26
Louise Daugherty reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANKRD11
Louise Daugherty reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANKH
Louise Daugherty reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ANK1
Louise Daugherty reviewed gene: ANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AMT
Louise Daugherty reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AMPD2
Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AMN
Louise Daugherty reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AMMECR1
Louise Daugherty reviewed gene: AMMECR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AMER1
Louise Daugherty reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AMELX
Louise Daugherty reviewed gene: AMELX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AMACR
Louise Daugherty reviewed gene: AMACR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALX4
Louise Daugherty reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALX3
Louise Daugherty reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALX1
Louise Daugherty reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALS2
Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALPL
Louise Daugherty reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALOXE3
Louise Daugherty reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALOX12B
Louise Daugherty reviewed gene: ALOX12B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALMS1
Louise Daugherty reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALKBH8
Louise Daugherty reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG9
Louise Daugherty reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG8
Louise Daugherty reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG6
Louise Daugherty reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG3
Louise Daugherty reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG13
Louise Daugherty reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG12
Louise Daugherty reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG11
Louise Daugherty reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALG1
Louise Daugherty reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDOB
Louise Daugherty reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDOA
Louise Daugherty reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDH7A1
Louise Daugherty reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDH6A1
Louise Daugherty reviewed gene: ALDH6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDH5A1
Louise Daugherty reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDH4A1
Louise Daugherty reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDH3A2
Louise Daugherty reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDH1A3
Louise Daugherty reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALDH18A1
Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALB
Louise Daugherty reviewed gene: ALB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALAS2
Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ALAD
Louise Daugherty reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AKT3
Louise Daugherty reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AKT1
Louise Daugherty reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AKR1D1
Louise Daugherty reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AK2
Louise Daugherty reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AK1
Louise Daugherty reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AIRE
Louise Daugherty reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AIPL1
Louise Daugherty reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AIMP1
Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AIFM1
Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AICDA
Louise Daugherty reviewed gene: AICDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AHI1
Louise Daugherty reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AHDC1
Louise Daugherty reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGXT
Louise Daugherty reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGTR1
Louise Daugherty reviewed gene: AGTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGT
Louise Daugherty reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGRN
Louise Daugherty reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGPS
Louise Daugherty reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGL
Louise Daugherty reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGK
Louise Daugherty reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AGA
Louise Daugherty reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AFG3L2
Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AFF4
Louise Daugherty reviewed gene: AFF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AFF2
Louise Daugherty reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADSL
Louise Daugherty reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADNP
Louise Daugherty reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADK
Louise Daugherty reviewed gene: ADK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADGRV1
Louise Daugherty reviewed gene: ADGRV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADGRG6
Louise Daugherty reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADGRG1
Louise Daugherty reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADD3
Louise Daugherty reviewed gene: ADD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADCY5
Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADAT3
Louise Daugherty reviewed gene: ADAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADAR
Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADAMTSL2
Louise Daugherty reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADAMTS17
Louise Daugherty reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADAMTS13
Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADAMTS10
Louise Daugherty reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADA2
Louise Daugherty reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ADA
Louise Daugherty reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACY1
Louise Daugherty reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACVRL1
Louise Daugherty reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACVR2B
Louise Daugherty reviewed gene: ACVR2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACVR1
Louise Daugherty reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTN4
Louise Daugherty reviewed gene: ACTN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTN1
Louise Daugherty reviewed gene: ACTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTL6B
Louise Daugherty reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTG2
Louise Daugherty reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTG1
Louise Daugherty reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTC1
Louise Daugherty reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTB
Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTA2
Louise Daugherty reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACTA1
Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACSL4
Louise Daugherty reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACSF3
Louise Daugherty reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACP5
Louise Daugherty reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACOX1
Louise Daugherty reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACO2
Louise Daugherty reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACE
Louise Daugherty reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACAT1
Louise Daugherty reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACAN
Louise Daugherty reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACADVL
Louise Daugherty reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACADSB
Louise Daugherty reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACADS
Louise Daugherty reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACADM
Louise Daugherty reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACAD9
Louise Daugherty reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ACAD8
Louise Daugherty reviewed gene: ACAD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABL1
Louise Daugherty reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABHD5
Louise Daugherty reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABHD12
Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCG8
Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCG5
Louise Daugherty reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCD4
Louise Daugherty reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCD1
Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCC9
Louise Daugherty reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCC8
Louise Daugherty reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCC6
Louise Daugherty reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCC2
Louise Daugherty reviewed gene: ABCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCB7
Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCB4
Louise Daugherty reviewed gene: ABCB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCB11
Louise Daugherty reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCA4
Louise Daugherty reviewed gene: ABCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCA3
Louise Daugherty reviewed gene: ABCA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCA12
Louise Daugherty reviewed gene: ABCA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABCA1
Louise Daugherty reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
ABAT
Louise Daugherty reviewed gene: ABAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AASS
Louise Daugherty reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AARS2
Louise Daugherty reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.12
AAAS
Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2020
Severe Paediatric Disorders v0.11
PMS2
Louise Daugherty Publications for gene PMS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS35
Louise Daugherty Publications for gene VPS35 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRAF3IP2
Louise Daugherty Publications for gene TRAF3IP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TNFSF12
Louise Daugherty Publications for gene TNFSF12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TNFRSF4
Louise Daugherty Publications for gene TNFRSF4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SMO
Louise Daugherty Publications for gene SMO were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SIM1
Louise Daugherty Publications for gene SIM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SART3
Louise Daugherty Publications for gene SART3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS15
Louise Daugherty Publications for gene RPS15 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
RNF31
Louise Daugherty Publications for gene RNF31 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
RNF135
Louise Daugherty Publications for gene RNF135 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PRICKLE2
Louise Daugherty Publications for gene PRICKLE2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
NRXN3
Louise Daugherty Publications for gene NRXN3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
NFAT5
Louise Daugherty Publications for gene NFAT5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MUTYH
Louise Daugherty Publications for gene MUTYH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MEN1
Louise Daugherty Publications for gene MEN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MBL2
Louise Daugherty Publications for gene MBL2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
KIRREL3
Louise Daugherty Publications for gene KIRREL3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ITGAM
Louise Daugherty Publications for gene ITGAM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IL22
Louise Daugherty Publications for gene IL22 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IL17A
Louise Daugherty Publications for gene IL17A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IL10
Louise Daugherty Publications for gene IL10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IDH1
Louise Daugherty Publications for gene IDH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HMGA2
Louise Daugherty Publications for gene HMGA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNAQ
Louise Daugherty Publications for gene GNAQ were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FPR1
Louise Daugherty Publications for gene FPR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EZH1
Louise Daugherty Publications for gene EZH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DRD2
Louise Daugherty Publications for gene DRD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCXR
Louise Daugherty Publications for gene DCXR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFHR4
Louise Daugherty Publications for gene CFHR4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFHR3
Louise Daugherty Publications for gene CFHR3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFHR2
Louise Daugherty Publications for gene CFHR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFHR1
Louise Daugherty Publications for gene CFHR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD46
Louise Daugherty Publications for gene CD46 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATG16L1
Louise Daugherty Publications for gene ATG16L1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTL6A
Louise Daugherty Publications for gene ACTL6A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZNF292
Louise Daugherty Publications for gene ZNF292 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WNT3
Louise Daugherty Publications for gene WNT3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WIPF1
Louise Daugherty Publications for gene WIPF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDPCP
Louise Daugherty Publications for gene WDPCP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UROC1
Louise Daugherty Publications for gene UROC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UNC119
Louise Daugherty Publications for gene UNC119 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSEN34
Louise Daugherty Publications for gene TSEN34 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRAF3
Louise Daugherty Publications for gene TRAF3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TPM4
Louise Daugherty Publications for gene TPM4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SNAP25
Louise Daugherty Publications for gene SNAP25 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SLC25A32
Louise Daugherty Publications for gene SLC25A32 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SLC18A2
Louise Daugherty Publications for gene SLC18A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SIGMAR1
Louise Daugherty Publications for gene SIGMAR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SEMA3E
Louise Daugherty Publications for gene SEMA3E were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
SCP2
Louise Daugherty Publications for gene SCP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
RHOH
Louise Daugherty Publications for gene RHOH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
REEP2
Louise Daugherty Publications for gene REEP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
RB1
Louise Daugherty Publications for gene RB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PTCHD1
Louise Daugherty Publications for gene PTCHD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKACG
Louise Daugherty Publications for gene PRKACG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PNPLA8
Louise Daugherty Publications for gene PNPLA8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX11B
Louise Daugherty Publications for gene PEX11B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PCK1
Louise Daugherty Publications for gene PCK1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
NIN
Louise Daugherty Publications for gene NIN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFA2
Louise Daugherty Publications for gene NDUFA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
NCF4
Louise Daugherty Publications for gene NCF4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
NADK2
Louise Daugherty Publications for gene NADK2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MTPAP
Louise Daugherty Publications for gene MTPAP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MRPL44
Louise Daugherty Publications for gene MRPL44 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MAP3K14
Louise Daugherty Publications for gene MAP3K14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
LIG1
Louise Daugherty Publications for gene LIG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
LCK
Louise Daugherty Publications for gene LCK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
KIAA0753
Louise Daugherty Publications for gene KIAA0753 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
KCNT2
Louise Daugherty Publications for gene KCNT2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IRF7
Louise Daugherty Publications for gene IRF7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IL21
Louise Daugherty Publications for gene IL21 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IL17F
Louise Daugherty Publications for gene IL17F were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HYAL1
Louise Daugherty Publications for gene HYAL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HARS2
Louise Daugherty Publications for gene HARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GFI1
Louise Daugherty Publications for gene GFI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GAD1
Louise Daugherty Publications for gene GAD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FRMD4A
Louise Daugherty Publications for gene FRMD4A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FASTKD2
Louise Daugherty Publications for gene FASTKD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDOST
Louise Daugherty Publications for gene DDOST were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CPT1C
Louise Daugherty Publications for gene CPT1C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COX14
Louise Daugherty Publications for gene COX14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COQ7
Louise Daugherty Publications for gene COQ7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFB
Louise Daugherty Publications for gene CFB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDC6
Louise Daugherty Publications for gene CDC6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CASP8
Louise Daugherty Publications for gene CASP8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BLNK
Louise Daugherty Publications for gene BLNK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCL10
Louise Daugherty Publications for gene BCL10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATPAF2
Louise Daugherty Publications for gene ATPAF2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP8A2
Louise Daugherty Publications for gene ATP8A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APOL1
Louise Daugherty Publications for gene APOL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADAM17
Louise Daugherty Publications for gene ADAM17 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACD
Louise Daugherty Publications for gene ACD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZSWIM6
Louise Daugherty Publications for gene ZSWIM6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZNF711
Louise Daugherty Publications for gene ZNF711 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZNF469
Louise Daugherty Publications for gene ZNF469 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZNF462
Louise Daugherty Publications for gene ZNF462 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZNF148
Louise Daugherty Publications for gene ZNF148 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZNF142
Louise Daugherty Publications for gene ZNF142 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZMYND11
Louise Daugherty Publications for gene ZMYND11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZMPSTE24
Louise Daugherty Publications for gene ZMPSTE24 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZMIZ1
Louise Daugherty Publications for gene ZMIZ1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZIC3
Louise Daugherty Publications for gene ZIC3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZIC2
Louise Daugherty Publications for gene ZIC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZIC1
Louise Daugherty Publications for gene ZIC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZFYVE26
Louise Daugherty Publications for gene ZFYVE26 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZFP57
Louise Daugherty Publications for gene ZFP57 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZEB2
Louise Daugherty Publications for gene ZEB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZDHHC9
Louise Daugherty Publications for gene ZDHHC9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZC4H2
Louise Daugherty Publications for gene ZC4H2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZBTB24
Louise Daugherty Publications for gene ZBTB24 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZBTB20
Louise Daugherty Publications for gene ZBTB20 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZBTB18
Louise Daugherty Publications for gene ZBTB18 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ZAP70
Louise Daugherty Publications for gene ZAP70 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
YY1
Louise Daugherty Publications for gene YY1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
YWHAG
Louise Daugherty Publications for gene YWHAG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
YARS2
Louise Daugherty Publications for gene YARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XYLT2
Louise Daugherty Publications for gene XYLT2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XYLT1
Louise Daugherty Publications for gene XYLT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XRCC4
Louise Daugherty Publications for gene XRCC4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XPR1
Louise Daugherty Publications for gene XPR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XPC
Louise Daugherty Publications for gene XPC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XPA
Louise Daugherty Publications for gene XPA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XIAP
Louise Daugherty Publications for gene XIAP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
XDH
Louise Daugherty Publications for gene XDH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WWOX
Louise Daugherty Publications for gene WWOX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WT1
Louise Daugherty Publications for gene WT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WRN
Louise Daugherty Publications for gene WRN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WRAP53
Louise Daugherty Publications for gene WRAP53 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WNT7A
Louise Daugherty Publications for gene WNT7A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WNT5A
Louise Daugherty Publications for gene WNT5A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WNT10B
Louise Daugherty Publications for gene WNT10B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WNT10A
Louise Daugherty Publications for gene WNT10A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WNT1
Louise Daugherty Publications for gene WNT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WFS1
Louise Daugherty Publications for gene WFS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR81
Louise Daugherty Publications for gene WDR81 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR73
Louise Daugherty Publications for gene WDR73 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR62
Louise Daugherty Publications for gene WDR62 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR60
Louise Daugherty Publications for gene WDR60 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR45B
Louise Daugherty Publications for gene WDR45B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR45
Louise Daugherty Publications for gene WDR45 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR4
Louise Daugherty Publications for gene WDR4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR37
Louise Daugherty Publications for gene WDR37 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR35
Louise Daugherty Publications for gene WDR35 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR34
Louise Daugherty Publications for gene WDR34 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR26
Louise Daugherty Publications for gene WDR26 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR19
Louise Daugherty Publications for gene WDR19 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WDR11
Louise Daugherty Publications for gene WDR11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WASHC5
Louise Daugherty Publications for gene WASHC5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WASF1
Louise Daugherty Publications for gene WASF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WAS
Louise Daugherty Publications for gene WAS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WARS2
Louise Daugherty Publications for gene WARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WAC
Louise Daugherty Publications for gene WAC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VWF
Louise Daugherty Publications for gene VWF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VSX2
Louise Daugherty Publications for gene VSX2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VRK1
Louise Daugherty Publications for gene VRK1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS53
Louise Daugherty Publications for gene VPS53 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS45
Louise Daugherty Publications for gene VPS45 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS33B
Louise Daugherty Publications for gene VPS33B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS13D
Louise Daugherty Publications for gene VPS13D were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS13B
Louise Daugherty Publications for gene VPS13B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS13A
Louise Daugherty Publications for gene VPS13A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VPS11
Louise Daugherty Publications for gene VPS11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VMA21
Louise Daugherty Publications for gene VMA21 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VLDLR
Louise Daugherty Publications for gene VLDLR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VKORC1
Louise Daugherty Publications for gene VKORC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VIPAS39
Louise Daugherty Publications for gene VIPAS39 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VHL
Louise Daugherty Publications for gene VHL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VDR
Louise Daugherty Publications for gene VDR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VCP
Louise Daugherty Publications for gene VCP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VCAN
Louise Daugherty Publications for gene VCAN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VARS2
Louise Daugherty Publications for gene VARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VARS
Louise Daugherty Publications for gene VARS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VAMP2
Louise Daugherty Publications for gene VAMP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VAMP1
Louise Daugherty Publications for gene VAMP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
VAC14
Louise Daugherty Publications for gene VAC14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UVSSA
Louise Daugherty Publications for gene UVSSA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
USP9X
Louise Daugherty Publications for gene USP9X were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
USP18
Louise Daugherty Publications for gene USP18 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
USH2A
Louise Daugherty Publications for gene USH2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
USH1G
Louise Daugherty Publications for gene USH1G were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
USH1C
Louise Daugherty Publications for gene USH1C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
USB1
Louise Daugherty Publications for gene USB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UROS
Louise Daugherty Publications for gene UROS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UROD
Louise Daugherty Publications for gene UROD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UQCRB
Louise Daugherty Publications for gene UQCRB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UQCC2
Louise Daugherty Publications for gene UQCC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UPF3B
Louise Daugherty Publications for gene UPF3B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UNG
Louise Daugherty Publications for gene UNG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UNC93B1
Louise Daugherty Publications for gene UNC93B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UNC80
Louise Daugherty Publications for gene UNC80 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UNC13D
Louise Daugherty Publications for gene UNC13D were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UMPS
Louise Daugherty Publications for gene UMPS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UMOD
Louise Daugherty Publications for gene UMOD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UGT1A1
Louise Daugherty Publications for gene UGT1A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UFM1
Louise Daugherty Publications for gene UFM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UFC1
Louise Daugherty Publications for gene UFC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UCHL1
Louise Daugherty Publications for gene UCHL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBTF
Louise Daugherty Publications for gene UBTF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBR1
Louise Daugherty Publications for gene UBR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBE3B
Louise Daugherty Publications for gene UBE3B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBE3A
Louise Daugherty Publications for gene UBE3A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBE2T
Louise Daugherty Publications for gene UBE2T were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBE2A
Louise Daugherty Publications for gene UBE2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBAP1
Louise Daugherty Publications for gene UBAP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBA5
Louise Daugherty Publications for gene UBA5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
UBA1
Louise Daugherty Publications for gene UBA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TYRP1
Louise Daugherty Publications for gene TYRP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TYROBP
Louise Daugherty Publications for gene TYROBP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TYR
Louise Daugherty Publications for gene TYR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TYMP
Louise Daugherty Publications for gene TYMP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TYK2
Louise Daugherty Publications for gene TYK2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TXNL4A
Louise Daugherty Publications for gene TXNL4A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TXNDC15
Louise Daugherty Publications for gene TXNDC15 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TWNK
Louise Daugherty Publications for gene TWNK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TWIST2
Louise Daugherty Publications for gene TWIST2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TWIST1
Louise Daugherty Publications for gene TWIST1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUSC3
Louise Daugherty Publications for gene TUSC3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUFM
Louise Daugherty Publications for gene TUFM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBGCP6
Louise Daugherty Publications for gene TUBGCP6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBGCP4
Louise Daugherty Publications for gene TUBGCP4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBG1
Louise Daugherty Publications for gene TUBG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBB4A
Louise Daugherty Publications for gene TUBB4A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBB3
Louise Daugherty Publications for gene TUBB3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBB2B
Louise Daugherty Publications for gene TUBB2B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBB2A
Louise Daugherty Publications for gene TUBB2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBB1
Louise Daugherty Publications for gene TUBB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBB
Louise Daugherty Publications for gene TUBB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBA8
Louise Daugherty Publications for gene TUBA8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TUBA1A
Louise Daugherty Publications for gene TUBA1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTR
Louise Daugherty Publications for gene TTR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTPA
Louise Daugherty Publications for gene TTPA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTN
Louise Daugherty Publications for gene TTN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTI2
Louise Daugherty Publications for gene TTI2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTC8
Louise Daugherty Publications for gene TTC8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTC7A
Louise Daugherty Publications for gene TTC7A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTC37
Louise Daugherty Publications for gene TTC37 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTC21B
Louise Daugherty Publications for gene TTC21B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTC19
Louise Daugherty Publications for gene TTC19 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TTBK2
Louise Daugherty Publications for gene TTBK2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSPAN7
Louise Daugherty Publications for gene TSPAN7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSHR
Louise Daugherty Publications for gene TSHR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSHB
Louise Daugherty Publications for gene TSHB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSFM
Louise Daugherty Publications for gene TSFM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSEN54
Louise Daugherty Publications for gene TSEN54 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSEN2
Louise Daugherty Publications for gene TSEN2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSC2
Louise Daugherty Publications for gene TSC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TSC1
Louise Daugherty Publications for gene TSC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRRAP
Louise Daugherty Publications for gene TRRAP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRPV6
Louise Daugherty Publications for gene TRPV6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRPV4
Louise Daugherty Publications for gene TRPV4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRPS1
Louise Daugherty Publications for gene TRPS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRPM6
Louise Daugherty Publications for gene TRPM6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRPM4
Louise Daugherty Publications for gene TRPM4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRPM1
Louise Daugherty Publications for gene TRPM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRPC6
Louise Daugherty Publications for gene TRPC6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRNT1
Louise Daugherty Publications for gene TRNT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRMU
Louise Daugherty Publications for gene TRMU were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRMT5
Louise Daugherty Publications for gene TRMT5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRMT10C
Louise Daugherty Publications for gene TRMT10C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRMT10A
Louise Daugherty Publications for gene TRMT10A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRMT1
Louise Daugherty Publications for gene TRMT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIT1
Louise Daugherty Publications for gene TRIT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIP4
Louise Daugherty Publications for gene TRIP4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIP12
Louise Daugherty Publications for gene TRIP12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIP11
Louise Daugherty Publications for gene TRIP11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIOBP
Louise Daugherty Publications for gene TRIOBP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIO
Louise Daugherty Publications for gene TRIO were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIM8
Louise Daugherty Publications for gene TRIM8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIM71
Louise Daugherty Publications for gene TRIM71 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIM37
Louise Daugherty Publications for gene TRIM37 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TRIM32
Louise Daugherty Publications for gene TRIM32 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TREX1
Louise Daugherty Publications for gene TREX1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TREM2
Louise Daugherty Publications for gene TREM2 were updated from to 30847515