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
ADPRHL2
Louise Daugherty edited their review of gene: ADPRHL2: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ADPRS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
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
AARS
Louise Daugherty edited their review of gene: AARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) | Epileptic encephalopathy, early infantile, 29, 616339 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive; Changed rating: AMBER
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
THRB
Louise Daugherty Publications for gene THRB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
THRA
Louise Daugherty Publications for gene THRA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
THPO
Louise Daugherty Publications for gene THPO were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
THOC6
Louise Daugherty Publications for gene THOC6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
THOC2
Louise Daugherty Publications for gene THOC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
THBD
Louise Daugherty Publications for gene THBD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
THAP1
Louise Daugherty Publications for gene THAP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
TH
Louise Daugherty Publications for gene TH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PTHLH
Louise Daugherty Publications for gene PTHLH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
PTH1R
Louise Daugherty Publications for gene PTH1R were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MTHFR
Louise Daugherty Publications for gene MTHFR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MTHFD1
Louise Daugherty Publications for gene MTHFD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
MT-TH
Louise Daugherty Publications for gene MT-TH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ETHE1
Louise Daugherty Publications for gene ETHE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTH
Louise Daugherty Publications for gene CTH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
RRM2B
Louise Daugherty Mode of inheritance for gene RRM2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS6KA3
Louise Daugherty Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
RPGRIP1
Louise Daugherty Mode of inheritance for gene RPGRIP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ROR2
Louise Daugherty Mode of inheritance for gene ROR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RLIM
Louise Daugherty Mode of inheritance for gene RLIM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
REN
Louise Daugherty Mode of inheritance for gene REN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RBBP8
Louise Daugherty Mode of inheritance for gene RBBP8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RARB
Louise Daugherty Mode of inheritance for gene RARB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAPSN
Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAG1
Louise Daugherty Mode of inheritance for gene RAG1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAF1
Louise Daugherty Mode of inheritance for gene RAF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAD21
Louise Daugherty Mode of inheritance for gene RAD21 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PYCR1
Louise Daugherty Mode of inheritance for gene PYCR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PTHLH
Louise Daugherty Mode of inheritance for gene PTHLH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PTH1R
Louise Daugherty Mode of inheritance for gene PTH1R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PSAP
Louise Daugherty Mode of inheritance for gene PSAP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRX
Louise Daugherty Mode of inheritance for gene PRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PROS1
Louise Daugherty Mode of inheritance for gene PROS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PROC
Louise Daugherty Mode of inheritance for gene PROC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POU1F1
Louise Daugherty Mode of inheritance for gene POU1F1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PORCN
Louise Daugherty Mode of inheritance for gene PORCN was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
POR
Louise Daugherty Mode of inheritance for gene POR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLR1D
Louise Daugherty Mode of inheritance for gene POLR1D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLG2
Louise Daugherty Mode of inheritance for gene POLG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLG
Louise Daugherty Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PMP22
Louise Daugherty Mode of inheritance for gene PMP22 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLS3
Louise Daugherty Mode of inheritance for gene PLS3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PLEC
Louise Daugherty Mode of inheritance for gene PLEC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PKLR
Louise Daugherty Mode of inheritance for gene PKLR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PITX3
Louise Daugherty Mode of inheritance for gene PITX3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIK3R1
Louise Daugherty Mode of inheritance for gene PIK3R1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGT
Louise Daugherty Mode of inheritance for gene PIGT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIEZO2
Louise Daugherty Mode of inheritance for gene PIEZO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIEZO1
Louise Daugherty Mode of inheritance for gene PIEZO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHOX2B
Louise Daugherty Mode of inheritance for gene PHOX2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHKG2
Louise Daugherty Mode of inheritance for gene PHKG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHEX
Louise Daugherty Mode of inheritance for gene PHEX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX6
Louise Daugherty Mode of inheritance for gene PEX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDHA1
Louise Daugherty Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PDGFB
Louise Daugherty Mode of inheritance for gene PDGFB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDE10A
Louise Daugherty Mode of inheritance for gene PDE10A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PCDH19
Louise Daugherty Mode of inheritance for gene PCDH19 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PAX6
Louise Daugherty Mode of inheritance for gene PAX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PARN
Louise Daugherty Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PALB2
Louise Daugherty Mode of inheritance for gene PALB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ORAI1
Louise Daugherty Mode of inheritance for gene ORAI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OPA3
Louise Daugherty Mode of inheritance for gene OPA3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OPA1
Louise Daugherty Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OFD1
Louise Daugherty Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NUS1
Louise Daugherty Mode of inheritance for gene NUS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NTRK1
Louise Daugherty Mode of inheritance for gene NTRK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NSDHL
Louise Daugherty Mode of inheritance for gene NSDHL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NPR2
Louise Daugherty Mode of inheritance for gene NPR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NONO
Louise Daugherty Mode of inheritance for gene NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NLGN3
Louise Daugherty Mode of inheritance for gene NLGN3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NKX2-5
Louise Daugherty Mode of inheritance for gene NKX2-5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NHS
Louise Daugherty Mode of inheritance for gene NHS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NEXMIF
Louise Daugherty Mode of inheritance for gene NEXMIF was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NEK8
Louise Daugherty Mode of inheritance for gene NEK8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NEFL
Louise Daugherty Mode of inheritance for gene NEFL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFB11
Louise Daugherty Mode of inheritance for gene NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NALCN
Louise Daugherty Mode of inheritance for gene NALCN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NAGLU
Louise Daugherty Mode of inheritance for gene NAGLU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NAA10
Louise Daugherty Mode of inheritance for gene NAA10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO7A
Louise Daugherty Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO6
Louise Daugherty Mode of inheritance for gene MYO6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH8
Louise Daugherty Mode of inheritance for gene MYH8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH7
Louise Daugherty Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH3
Louise Daugherty Mode of inheritance for gene MYH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH2
Louise Daugherty Mode of inheritance for gene MYH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYBPC1
Louise Daugherty Mode of inheritance for gene MYBPC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MVK
Louise Daugherty Mode of inheritance for gene MVK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTHFR
Louise Daugherty Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTHFD1
Louise Daugherty Mode of inheritance for gene MTHFD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MSX1
Louise Daugherty Mode of inheritance for gene MSX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MSTO1
Louise Daugherty Mode of inheritance for gene MSTO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MSL3
Louise Daugherty Mode of inheritance for gene MSL3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
MSH6
Louise Daugherty Mode of inheritance for gene MSH6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPZ
Louise Daugherty Mode of inheritance for gene MPZ was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPL
Louise Daugherty Mode of inheritance for gene MPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMP13
Louise Daugherty Mode of inheritance for gene MMP13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.10
MIPEP
Louise Daugherty Deleted their review
20 Feb 2020
Severe Paediatric Disorders v0.10
MIPEP
Louise Daugherty reviewed gene: MIPEP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAF3IP2
Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
20 Feb 2020
Severe Paediatric Disorders v0.10
SMO
Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS15
Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
20 Feb 2020
Severe Paediatric Disorders v0.10
NFAT5
Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
20 Feb 2020
Severe Paediatric Disorders v0.10
MUTYH
Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
20 Feb 2020
Severe Paediatric Disorders v0.10
KIRREL3
Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
20 Feb 2020
Severe Paediatric Disorders v0.10
IL22
Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
20 Feb 2020
Severe Paediatric Disorders v0.10
IL17A
Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
20 Feb 2020
Severe Paediatric Disorders v0.10
TSEN34
Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
20 Feb 2020
Severe Paediatric Disorders v0.10
TPM4
Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
20 Feb 2020
Severe Paediatric Disorders v0.10
SEMA3E
Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
20 Feb 2020
Severe Paediatric Disorders v0.10
REEP2
Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKACG
Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNT2
Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
20 Feb 2020
Severe Paediatric Disorders v0.10
GFI1
Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
20 Feb 2020
Severe Paediatric Disorders v0.10
FRMD4A
Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
20 Feb 2020
Severe Paediatric Disorders v0.10
ATPAF2
Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
20 Feb 2020
Severe Paediatric Disorders v0.10
ZSWIM6
Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
20 Feb 2020
Severe Paediatric Disorders v0.10
ZNF142
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
20 Feb 2020
Severe Paediatric Disorders v0.10
ZMPSTE24
Louise Daugherty Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
20 Feb 2020
Severe Paediatric Disorders v0.10
ZMIZ1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
20 Feb 2020
Severe Paediatric Disorders v0.10
YWHAG
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
20 Feb 2020
Severe Paediatric Disorders v0.10
YARS2
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
XPR1
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
20 Feb 2020
Severe Paediatric Disorders v0.10
XDH
Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
20 Feb 2020
Severe Paediatric Disorders v0.10
WWOX
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT7A
Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT10B
Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT10A
Louise Daugherty Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR81
Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR62
Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR60
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR45B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR45
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR4
Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR35
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR34
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR19
Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR11
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
20 Feb 2020
Severe Paediatric Disorders v0.10
WASF1
Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
20 Feb 2020
Severe Paediatric Disorders v0.10
WAS
Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
20 Feb 2020
Severe Paediatric Disorders v0.10
WARS2
Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
VSX2
Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS33B
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS13A
Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
20 Feb 2020
Severe Paediatric Disorders v0.10
VMA21
Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
20 Feb 2020
Severe Paediatric Disorders v0.10
VLDLR
Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
20 Feb 2020
Severe Paediatric Disorders v0.10
VIPAS39
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
20 Feb 2020
Severe Paediatric Disorders v0.10
VHL
Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
20 Feb 2020
Severe Paediatric Disorders v0.10
VCP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
20 Feb 2020
Severe Paediatric Disorders v0.10
VARS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
20 Feb 2020
Severe Paediatric Disorders v0.10
VAMP1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
20 Feb 2020
Severe Paediatric Disorders v0.10
USB1
Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
20 Feb 2020
Severe Paediatric Disorders v0.10
UROS
Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
20 Feb 2020
Severe Paediatric Disorders v0.10
UROD
Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
20 Feb 2020
Severe Paediatric Disorders v0.10
UNG
Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
20 Feb 2020
Severe Paediatric Disorders v0.10
UNC93B1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
20 Feb 2020
Severe Paediatric Disorders v0.10
UNC80
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
20 Feb 2020
Severe Paediatric Disorders v0.10
UMOD
Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
20 Feb 2020
Severe Paediatric Disorders v0.10
UFC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
20 Feb 2020
Severe Paediatric Disorders v0.10
UBTF
Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
20 Feb 2020
Severe Paediatric Disorders v0.10
UBA5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
20 Feb 2020
Severe Paediatric Disorders v0.10
TYROBP
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
20 Feb 2020
Severe Paediatric Disorders v0.10
TWNK
Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
20 Feb 2020
Severe Paediatric Disorders v0.10
TWIST1
Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBGCP6
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBGCP4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBG1
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB3
Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB2B
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB2A
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB1
Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB
Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBA8
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
20 Feb 2020
Severe Paediatric Disorders v0.10
TTR
Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
20 Feb 2020
Severe Paediatric Disorders v0.10
TTPA
Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
20 Feb 2020
Severe Paediatric Disorders v0.10
TTN
Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
20 Feb 2020
Severe Paediatric Disorders v0.10
TTC21B
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
20 Feb 2020
Severe Paediatric Disorders v0.10
TSHR
Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
20 Feb 2020
Severe Paediatric Disorders v0.10
TSHB
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
20 Feb 2020
Severe Paediatric Disorders v0.10
TRRAP
Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPV6
Louise Daugherty Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPV4
Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPM4
Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
20 Feb 2020
Severe Paediatric Disorders v0.10
TRNT1
Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIP4
Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
20 Feb 2020
Severe Paediatric Disorders v0.10
TREX1
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
20 Feb 2020
Severe Paediatric Disorders v0.10
TREM2
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAPPC12
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAF7
Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
20 Feb 2020
Severe Paediatric Disorders v0.10
TPO
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
20 Feb 2020
Severe Paediatric Disorders v0.10
TPM3
Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
20 Feb 2020
Severe Paediatric Disorders v0.10
TPM2
Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
20 Feb 2020
Severe Paediatric Disorders v0.10
TPK1
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
20 Feb 2020
Severe Paediatric Disorders v0.10
TOP3A
Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
20 Feb 2020
Severe Paediatric Disorders v0.10
TNNT3
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
20 Feb 2020
Severe Paediatric Disorders v0.10
TNNT1
Louise Daugherty Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TNNI2
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM94
Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM70
Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM67
Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM43
Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
20 Feb 2020
Severe Paediatric Disorders v0.10
TLR3
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
20 Feb 2020
Severe Paediatric Disorders v0.10
TK2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
20 Feb 2020
Severe Paediatric Disorders v0.10
TIMM50
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
20 Feb 2020
Severe Paediatric Disorders v0.10
TICAM1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
20 Feb 2020
Severe Paediatric Disorders v0.10
TIA1
Louise Daugherty Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
20 Feb 2020
Severe Paediatric Disorders v0.10
THRB
Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
20 Feb 2020
Severe Paediatric Disorders v0.10
THRA
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
20 Feb 2020
Severe Paediatric Disorders v0.10
THPO
Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
20 Feb 2020
Severe Paediatric Disorders v0.10
THOC6
Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
20 Feb 2020
Severe Paediatric Disorders v0.10
THOC2
Louise Daugherty Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
20 Feb 2020
Severe Paediatric Disorders v0.10
THBD
Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
20 Feb 2020
Severe Paediatric Disorders v0.10
THAP1
Louise Daugherty Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
TH
Louise Daugherty Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
20 Feb 2020
Severe Paediatric Disorders v0.10
TGM1
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
20 Feb 2020
Severe Paediatric Disorders v0.10
TGFB3
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
20 Feb 2020
Severe Paediatric Disorders v0.10
TGFB1
Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
20 Feb 2020
Severe Paediatric Disorders v0.10
TG
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
20 Feb 2020
Severe Paediatric Disorders v0.10
TFG
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
20 Feb 2020
Severe Paediatric Disorders v0.10
TENM3
Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
20 Feb 2020
Severe Paediatric Disorders v0.10
TCTEX1D2
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
20 Feb 2020
Severe Paediatric Disorders v0.10
TCF4
Louise Daugherty Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
20 Feb 2020
Severe Paediatric Disorders v0.10
TCF20
Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
20 Feb 2020
Severe Paediatric Disorders v0.10
TCAP
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX4
Louise Daugherty Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX22
Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
20 Feb 2020
Severe Paediatric Disorders v0.10
TBR1
Louise Daugherty Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
20 Feb 2020
Severe Paediatric Disorders v0.10
TBCK
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
20 Feb 2020
Severe Paediatric Disorders v0.10
TBCE
Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
20 Feb 2020
Severe Paediatric Disorders v0.10
TBCD
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
20 Feb 2020
Severe Paediatric Disorders v0.10
TBC1D24
Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
20 Feb 2020
Severe Paediatric Disorders v0.10
TAZ
Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
20 Feb 2020
Severe Paediatric Disorders v0.10
TARDBP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
20 Feb 2020
Severe Paediatric Disorders v0.10
TAPT1
Louise Daugherty Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TANGO2
Louise Daugherty Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
20 Feb 2020
Severe Paediatric Disorders v0.10
SZT2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
20 Feb 2020
Severe Paediatric Disorders v0.10
SYNJ1
Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
20 Feb 2020
Severe Paediatric Disorders v0.10
SYNE1
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
20 Feb 2020
Severe Paediatric Disorders v0.10
SYN1
Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
20 Feb 2020
Severe Paediatric Disorders v0.10
SUZ12
Louise Daugherty Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
20 Feb 2020
Severe Paediatric Disorders v0.10
SURF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
20 Feb 2020
Severe Paediatric Disorders v0.10
SUCLG1
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
20 Feb 2020
Severe Paediatric Disorders v0.10
SUCLA2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
20 Feb 2020
Severe Paediatric Disorders v0.10
STXBP1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
20 Feb 2020
Severe Paediatric Disorders v0.10
STX1B
Louise Daugherty Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
20 Feb 2020
Severe Paediatric Disorders v0.10
STS
Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
20 Feb 2020
Severe Paediatric Disorders v0.10
STRA6
Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM173
Louise Daugherty Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
20 Feb 2020
Severe Paediatric Disorders v0.10
STIM1
Louise Daugherty Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
20 Feb 2020
Severe Paediatric Disorders v0.10
STAT5B
Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
20 Feb 2020
Severe Paediatric Disorders v0.10
STAC3
Louise Daugherty Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
20 Feb 2020
Severe Paediatric Disorders v0.10
ST3GAL3
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
20 Feb 2020
Severe Paediatric Disorders v0.10
SRC
Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
20 Feb 2020
Severe Paediatric Disorders v0.10
SQSTM1
Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTLC2
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTLC1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTBN4
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTAN1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPPL2A
Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
20 Feb 2020
Severe Paediatric Disorders v0.10
SPINK5
Louise Daugherty Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
20 Feb 2020
Severe Paediatric Disorders v0.10
SPG11
Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
20 Feb 2020
Severe Paediatric Disorders v0.10
SPEG
Louise Daugherty Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
20 Feb 2020
Severe Paediatric Disorders v0.10
SP110
Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX9
Louise Daugherty Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX3
Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX10
Louise Daugherty Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
20 Feb 2020
Severe Paediatric Disorders v0.10
SNORD118
Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
20 Feb 2020
Severe Paediatric Disorders v0.10
SNAP29
Louise Daugherty Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
20 Feb 2020
Severe Paediatric Disorders v0.10
SMOC1
Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMCHD1
Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCD1
Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLCO2A1
Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A9
Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC5A7
Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC5A5
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC4A4
Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC4A11
Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC39A4
Louise Daugherty Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC39A14
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC34A3
Louise Daugherty Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC34A2
Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC30A10
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC2A1
Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC29A3
Louise Daugherty Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC27A4
Louise Daugherty Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC26A4
Louise Daugherty Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A46
Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A42
Louise Daugherty Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A4
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A22
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A19
Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A15
Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A12
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A1
Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC20A2
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC1A4
Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC1A2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC19A3
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC19A2
Louise Daugherty Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC18A3
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC16A1
Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC13A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC12A6
Louise Daugherty Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC12A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC11A2
Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC10A7
Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
20 Feb 2020
Severe Paediatric Disorders v0.10
SIK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
20 Feb 2020
Severe Paediatric Disorders v0.10
SHOX
Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
20 Feb 2020
Severe Paediatric Disorders v0.10
SHOC2
Louise Daugherty Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
20 Feb 2020
Severe Paediatric Disorders v0.10
SHH
Louise Daugherty Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
20 Feb 2020
Severe Paediatric Disorders v0.10
SH3TC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
20 Feb 2020
Severe Paediatric Disorders v0.10
SGCD
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
20 Feb 2020
Severe Paediatric Disorders v0.10
SETX
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
20 Feb 2020
Severe Paediatric Disorders v0.10
SERAC1
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
20 Feb 2020
Severe Paediatric Disorders v0.10
SEPT9
Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
20 Feb 2020
Severe Paediatric Disorders v0.10
SELENON
Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
20 Feb 2020
Severe Paediatric Disorders v0.10
SEC23B
Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
20 Feb 2020
Severe Paediatric Disorders v0.10
SDHD
Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
20 Feb 2020
Severe Paediatric Disorders v0.10
SDHA
Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
20 Feb 2020
Severe Paediatric Disorders v0.10
SCO2
Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
20 Feb 2020
Severe Paediatric Disorders v0.10
SCNN1B
Louise Daugherty Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
20 Feb 2020
Severe Paediatric Disorders v0.10
SCNN1A
Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN9A
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN8A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN4A
Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN3A
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN2A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN1B
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN1A
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN11A
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCARB2
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
20 Feb 2020
Severe Paediatric Disorders v0.10
SC5D
Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
20 Feb 2020
Severe Paediatric Disorders v0.10
SBF2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
20 Feb 2020
Severe Paediatric Disorders v0.10
SBF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
20 Feb 2020
Severe Paediatric Disorders v0.10
RYR2
Louise Daugherty Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
20 Feb 2020
Severe Paediatric Disorders v0.10
RYR1
Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM5
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
20 Feb 2020
Severe Paediatric Disorders v0.10
RUNX2
Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
20 Feb 2020
Severe Paediatric Disorders v0.10
RUNX1
Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
20 Feb 2020
Severe Paediatric Disorders v0.10
RTTN
Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
20 Feb 2020
Severe Paediatric Disorders v0.10
RTN4IP1
Louise Daugherty Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
20 Feb 2020
Severe Paediatric Disorders v0.10
RRM2B
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 for gene: RRM2B
20 Feb 2020
Severe Paediatric Disorders v0.10
RPGR
Louise Daugherty Added phenotypes Retinitis pigmentosa 3, 300029; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 for gene: RPGR
20 Feb 2020
Severe Paediatric Disorders v0.10
RORB
Louise Daugherty Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 for gene: RORB
20 Feb 2020
Severe Paediatric Disorders v0.10
RORA
Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
20 Feb 2020
Severe Paediatric Disorders v0.10
ROBO3
Louise Daugherty Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 for gene: ROBO3
20 Feb 2020
Severe Paediatric Disorders v0.10
RNASET2
Louise Daugherty Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
20 Feb 2020
Severe Paediatric Disorders v0.10
RNASEH1
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 for gene: RNASEH1
20 Feb 2020
Severe Paediatric Disorders v0.10
RMRP
Louise Daugherty Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP
20 Feb 2020
Severe Paediatric Disorders v0.10
RHOBTB2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 64, 618004 for gene: RHOBTB2
20 Feb 2020
Severe Paediatric Disorders v0.10
RETREG1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
20 Feb 2020
Severe Paediatric Disorders v0.10
RERE
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 for gene: RERE
20 Feb 2020
Severe Paediatric Disorders v0.10
REN
Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
20 Feb 2020
Severe Paediatric Disorders v0.10
REEP1
Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
20 Feb 2020
Severe Paediatric Disorders v0.10
RECQL4
Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
20 Feb 2020
Severe Paediatric Disorders v0.10
RBM8A
Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
20 Feb 2020
Severe Paediatric Disorders v0.10
RBCK1
Louise Daugherty Added phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 for gene: RBCK1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAX
Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
20 Feb 2020
Severe Paediatric Disorders v0.10
RARB
Louise Daugherty Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
20 Feb 2020
Severe Paediatric Disorders v0.10
RAPSN
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
20 Feb 2020
Severe Paediatric Disorders v0.10
RAI1
Louise Daugherty Added phenotypes Smith-Magenis syndrome, 182290 for gene: RAI1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAG2
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG2
20 Feb 2020
Severe Paediatric Disorders v0.10
RAG1
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAF1
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAC3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB7A
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB33B
Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB11B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 for gene: RAB11B
20 Feb 2020
Severe Paediatric Disorders v0.10
QRSL1
Louise Daugherty Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
20 Feb 2020
Severe Paediatric Disorders v0.10
PUS7
Louise Daugherty Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
20 Feb 2020
Severe Paediatric Disorders v0.10
PUS1
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 for gene: PUS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PTPN23
Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23
20 Feb 2020
Severe Paediatric Disorders v0.10
PTHLH
Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
20 Feb 2020
Severe Paediatric Disorders v0.10
PTH1R
Louise Daugherty Added phenotypes Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045 for gene: PTH1R
20 Feb 2020
Severe Paediatric Disorders v0.10
PSTPIP1
Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
20 Feb 2020
Severe Paediatric Disorders v0.10
PSEN1
Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
20 Feb 2020
Severe Paediatric Disorders v0.10
PRX
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900 for gene: PRX
20 Feb 2020
Severe Paediatric Disorders v0.10
PRUNE1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 for gene: PRUNE1
20 Feb 2020
Severe Paediatric Disorders v0.10
PRSS56
Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
20 Feb 2020
Severe Paediatric Disorders v0.10
PRRT2
Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
20 Feb 2020
Severe Paediatric Disorders v0.10
PRPS1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PROS1
Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PROKR2
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 for gene: PROKR2
20 Feb 2020
Severe Paediatric Disorders v0.10
PROC
Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
20 Feb 2020
Severe Paediatric Disorders v0.10
PRNP
Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKDC
Louise Daugherty Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 for gene: PRKDC
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKAR1A
Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKAG2
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
20 Feb 2020
Severe Paediatric Disorders v0.10
PRG4
Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
20 Feb 2020
Severe Paediatric Disorders v0.10
PRDM12
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 for gene: PRDM12
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP3CA
Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP2CA
Louise Daugherty Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP1R21
Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP1CB
Louise Daugherty Added phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
20 Feb 2020
Severe Paediatric Disorders v0.10
POR
Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
20 Feb 2020
Severe Paediatric Disorders v0.10
POMT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 for gene: POMT2
20 Feb 2020
Severe Paediatric Disorders v0.10
POMT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 for gene: POMT1
20 Feb 2020
Severe Paediatric Disorders v0.10
POMK
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK
20 Feb 2020
Severe Paediatric Disorders v0.10
POMGNT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2
20 Feb 2020
Severe Paediatric Disorders v0.10
POMGNT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR3B
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR3A
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 for gene: POLR3A
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR2A
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A
20 Feb 2020
Severe Paediatric Disorders v0.10
POLG2
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
20 Feb 2020
Severe Paediatric Disorders v0.10
POLG
Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
20 Feb 2020
Severe Paediatric Disorders v0.10
POLA1
Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
20 Feb 2020
Severe Paediatric Disorders v0.10
PMP22
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22
20 Feb 2020
Severe Paediatric Disorders v0.10
PLK4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 for gene: PLK4
20 Feb 2020
Severe Paediatric Disorders v0.10
PLEC
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138 for gene: PLEC
20 Feb 2020
Severe Paediatric Disorders v0.10
PLCB1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 12, 613722 for gene: PLCB1
20 Feb 2020
Severe Paediatric Disorders v0.10
PLAA
Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
20 Feb 2020
Severe Paediatric Disorders v0.10
PLA2G6
Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
20 Feb 2020
Severe Paediatric Disorders v0.10
PLA2G4A
Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
20 Feb 2020
Severe Paediatric Disorders v0.10
PKLR
Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
20 Feb 2020
Severe Paediatric Disorders v0.10
PKHD1
Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
20 Feb 2020
Severe Paediatric Disorders v0.10
PITX1
Louise Daugherty Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800; Liebenberg syndrome, 186550 for gene: PITX1
20 Feb 2020
Severe Paediatric Disorders v0.10
PIK3CA
Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGW
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 for gene: PIGW
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGV
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 for gene: PIGV
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGU
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 for gene: PIGU
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGQ
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 77, 618548 for gene: PIGQ
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGO
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 for gene: PIGO
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGH
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 for gene: PIGH
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGC
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGB
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 80, 618580 for gene: PIGB
20 Feb 2020
Severe Paediatric Disorders v0.10
PIEZO2
Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
20 Feb 2020
Severe Paediatric Disorders v0.10
PIEZO1
Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
20 Feb 2020
Severe Paediatric Disorders v0.10
PHOX2B
Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
20 Feb 2020
Severe Paediatric Disorders v0.10
PHACTR1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 70, 618298 for gene: PHACTR1
20 Feb 2020
Severe Paediatric Disorders v0.10
PGAP3
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 for gene: PGAP3
20 Feb 2020
Severe Paediatric Disorders v0.10
PGAP2
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 for gene: PGAP2
20 Feb 2020
Severe Paediatric Disorders v0.10
PDGFRB
Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
20 Feb 2020
Severe Paediatric Disorders v0.10
PDGFB
Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
20 Feb 2020
Severe Paediatric Disorders v0.10
PDE4D
Louise Daugherty Added phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 for gene: PDE4D
20 Feb 2020
Severe Paediatric Disorders v0.10
PCYT1A
Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
20 Feb 2020
Severe Paediatric Disorders v0.10
PCDH19
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
20 Feb 2020
Severe Paediatric Disorders v0.10
PBX1
Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX9
Louise Daugherty Added phenotypes Tooth agenesis, selective, 3, 604625 for gene: PAX9
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX8
Louise Daugherty Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 for gene: PAX8
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX6
Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
20 Feb 2020
Severe Paediatric Disorders v0.10
PARS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 75, 618437 for gene: PARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
PAPSS2
Louise Daugherty Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 for gene: PAPSS2
20 Feb 2020
Severe Paediatric Disorders v0.10
PAPPA2
Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
20 Feb 2020
Severe Paediatric Disorders v0.10
PANK2
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
20 Feb 2020
Severe Paediatric Disorders v0.10
PACS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 66, 618067 for gene: PACS2
20 Feb 2020
Severe Paediatric Disorders v0.10
OTX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
20 Feb 2020
Severe Paediatric Disorders v0.10
OTUD6B
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
20 Feb 2020
Severe Paediatric Disorders v0.10
OTOF
Louise Daugherty Added phenotypes Deafness, autosomal recessive 9, 601071; Auditory neuropathy, autosomal recessive, 1, 601071 for gene: OTOF
20 Feb 2020
Severe Paediatric Disorders v0.10
OTC
Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
20 Feb 2020
Severe Paediatric Disorders v0.10
ORAI1
Louise Daugherty Added phenotypes Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883 for gene: ORAI1
20 Feb 2020
Severe Paediatric Disorders v0.10
OPHN1
Louise Daugherty Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
20 Feb 2020
Severe Paediatric Disorders v0.10
OPA3
Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
20 Feb 2020
Severe Paediatric Disorders v0.10
OPA1
Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
20 Feb 2020
Severe Paediatric Disorders v0.10
OAT
Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
20 Feb 2020
Severe Paediatric Disorders v0.10
NUS1
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
20 Feb 2020
Severe Paediatric Disorders v0.10
NTRK2
Louise Daugherty Added phenotypes Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830 for gene: NTRK2
20 Feb 2020
Severe Paediatric Disorders v0.10
NTRK1
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 for gene: NTRK1
20 Feb 2020
Severe Paediatric Disorders v0.10
NPRL3
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 3, 617118 for gene: NPRL3
20 Feb 2020
Severe Paediatric Disorders v0.10
NPR2
Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHP4
Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHP3
Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHP1
Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
20 Feb 2020
Severe Paediatric Disorders v0.10
NOTCH3
Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
20 Feb 2020
Severe Paediatric Disorders v0.10
NOG
Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
20 Feb 2020
Severe Paediatric Disorders v0.10
NLRP3
Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
20 Feb 2020
Severe Paediatric Disorders v0.10
NLRC4
Louise Daugherty Added phenotypes Autoinflammation with infantile enterocolitis, 616050; ?Familial cold autoinflammatory syndrome 4, 616115 for gene: NLRC4
20 Feb 2020
Severe Paediatric Disorders v0.10
NKX6-2
Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
20 Feb 2020
Severe Paediatric Disorders v0.10
NKX2-5
Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5
20 Feb 2020
Severe Paediatric Disorders v0.10
NKX2-1
Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
20 Feb 2020
Severe Paediatric Disorders v0.10
NIPAL4
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 for gene: NIPAL4
20 Feb 2020
Severe Paediatric Disorders v0.10
NHEJ1
Louise Daugherty Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 for gene: NHEJ1
20 Feb 2020
Severe Paediatric Disorders v0.10
NFIX
Louise Daugherty Added phenotypes Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535 for gene: NFIX
20 Feb 2020
Severe Paediatric Disorders v0.10
NFIA
Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
20 Feb 2020
Severe Paediatric Disorders v0.10
NFASC
Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
20 Feb 2020
Severe Paediatric Disorders v0.10
NEK8
Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
20 Feb 2020
Severe Paediatric Disorders v0.10
NEK1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
20 Feb 2020
Severe Paediatric Disorders v0.10
NEFL
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL
20 Feb 2020
Severe Paediatric Disorders v0.10
NEFH
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 for gene: NEFH
20 Feb 2020
Severe Paediatric Disorders v0.10
NEB
Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFB11
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
20 Feb 2020
Severe Paediatric Disorders v0.10
NDRG1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 for gene: NDRG1
20 Feb 2020
Severe Paediatric Disorders v0.10
NDP
Louise Daugherty Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
20 Feb 2020
Severe Paediatric Disorders v0.10
NDE1
Louise Daugherty Added phenotypes Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013 for gene: NDE1
20 Feb 2020
Severe Paediatric Disorders v0.10
NAXE
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 for gene: NAXE
20 Feb 2020
Severe Paediatric Disorders v0.10
NALCN
Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
20 Feb 2020
Severe Paediatric Disorders v0.10
NAGS
Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
20 Feb 2020
Severe Paediatric Disorders v0.10
NAGLU
Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU
20 Feb 2020
Severe Paediatric Disorders v0.10
NACC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 for gene: NACC1
20 Feb 2020
Severe Paediatric Disorders v0.10
NAA10
Louise Daugherty Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10
20 Feb 2020
Severe Paediatric Disorders v0.10
MYRF
Louise Daugherty Added phenotypes Cardiac-urogenital syndrome, 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 for gene: MYRF
20 Feb 2020
Severe Paediatric Disorders v0.10
MYOT
Louise Daugherty Added phenotypes Myopathy, spheroid body, 182920; Myopathy, myofibrillar, 3, 609200 for gene: MYOT
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO6
Louise Daugherty Added phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346; Deafness, autosomal dominant 22, 606346; Deafness, autosomal recessive 37, 607821 for gene: MYO6
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO18B
Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
20 Feb 2020
Severe Paediatric Disorders v0.10
MYL1
Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH9
Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH7
Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH6
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH3
Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH2
Louise Daugherty Added phenotypes Proximal myopathy and ophthalmoplegia, 605637 for gene: MYH2
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH14
Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
20 Feb 2020
Severe Paediatric Disorders v0.10
MYBPC1
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MUSK
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
20 Feb 2020
Severe Paediatric Disorders v0.10
MTOR
Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
20 Feb 2020
Severe Paediatric Disorders v0.10
MTMR2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
20 Feb 2020
Severe Paediatric Disorders v0.10
MTM1
Louise Daugherty Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
20 Feb 2020
Severe Paediatric Disorders v0.10
MTHFR
Louise Daugherty Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
20 Feb 2020
Severe Paediatric Disorders v0.10
MTHFD1
Louise Daugherty Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TY
Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TW
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TW
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TV
Louise Daugherty Added phenotypes ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS; NEONATAL DEATH for gene: MT-TV
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TS1
Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TR
Louise Daugherty Added phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TR
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TQ
Louise Daugherty Added phenotypes MYOPATHY; SENSORINEURAL DEAFNESS AND MIGRAINE; MELAS SYNDROME for gene: MT-TQ
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TP
Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TN
Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TM
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL for gene: MT-TM
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TL2
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL; CARDIOMYOPATHY, MITOCHONDRIAL for gene: MT-TL2
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TK
Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TI
Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TH
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TG
Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TF
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TE
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TE
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TD
Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TA
Louise Daugherty Added phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY; MITOCHONDRIAL MYOPATHY for gene: MT-TA
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-RNR1
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND6
Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-CYB
Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-CO1
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ATP8
Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
20 Feb 2020
Severe Paediatric Disorders v0.10
MSX2
Louise Daugherty Added phenotypes Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500 for gene: MSX2
20 Feb 2020
Severe Paediatric Disorders v0.10
MSX1
Louise Daugherty Added phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874 for gene: MSX1
20 Feb 2020
Severe Paediatric Disorders v0.10
MSTO1
Louise Daugherty Added phenotypes Myopathy, mitochondrial, and ataxia, 617675 for gene: MSTO1
20 Feb 2020
Severe Paediatric Disorders v0.10
MPZ
Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ
20 Feb 2020
Severe Paediatric Disorders v0.10
MPV17
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
20 Feb 2020
Severe Paediatric Disorders v0.10
MPLKIP
Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
20 Feb 2020
Severe Paediatric Disorders v0.10
MPL
Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
20 Feb 2020
Severe Paediatric Disorders v0.10
MPIG6B
Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
20 Feb 2020
Severe Paediatric Disorders v0.10
MORC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 for gene: MORC2
20 Feb 2020
Severe Paediatric Disorders v0.10
MUT
Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
20 Feb 2020
Severe Paediatric Disorders v0.10
MMP2
Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
20 Feb 2020
Severe Paediatric Disorders v0.10
MMADHC
Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
20 Feb 2020
Severe Paediatric Disorders v0.10
MMACHC
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
20 Feb 2020
Severe Paediatric Disorders v0.10
MMAB
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
20 Feb 2020
Severe Paediatric Disorders v0.10
MMAA
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 for gene: MMAA
20 Feb 2020
Severe Paediatric Disorders v0.10
MLC1
Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MICU1
Louise Daugherty Added phenotypes Myopathy with extrapyramidal signs, 615673 for gene: MICU1
20 Feb 2020
Severe Paediatric Disorders v0.10
MFSD8
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170 for gene: MFSD8
20 Feb 2020
Severe Paediatric Disorders v0.10
MFRP
Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
20 Feb 2020
Severe Paediatric Disorders v0.10
MFN2
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2
20 Feb 2020
Severe Paediatric Disorders v0.10
MFF
Louise Daugherty Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF
20 Feb 2020
Severe Paediatric Disorders v0.10
MEGF10
Louise Daugherty Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 for gene: MEGF10
20 Feb 2020
Severe Paediatric Disorders v0.10
MED17
Louise Daugherty Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 for gene: MED17
20 Feb 2020
Severe Paediatric Disorders v0.10
MED13L
Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L
20 Feb 2020
Severe Paediatric Disorders v0.10
MECR
Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
20 Feb 2020
Severe Paediatric Disorders v0.10
MECP2
Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
20 Feb 2020
Severe Paediatric Disorders v0.10
MECOM
Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
20 Feb 2020
Severe Paediatric Disorders v0.10
MDH2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 51, 617339 for gene: MDH2
20 Feb 2020
Severe Paediatric Disorders v0.10
MCM3AP
Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
20 Feb 2020
Severe Paediatric Disorders v0.10
MCEE
Louise Daugherty Added phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 for gene: MCEE
20 Feb 2020
Severe Paediatric Disorders v0.10
MCCC2
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 for gene: MCCC2
20 Feb 2020
Severe Paediatric Disorders v0.10
MCCC1
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 for gene: MCCC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MC2R
Louise Daugherty Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 for gene: MC2R
20 Feb 2020
Severe Paediatric Disorders v0.10
MBTPS2
Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
20 Feb 2020
Severe Paediatric Disorders v0.10
MAT1A
Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
20 Feb 2020
Severe Paediatric Disorders v0.10
MAST1
Louise Daugherty Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 for gene: MAST1
20 Feb 2020
Severe Paediatric Disorders v0.10
MAPT
Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
20 Feb 2020
Severe Paediatric Disorders v0.10
MAPKBP1
Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
20 Feb 2020
Severe Paediatric Disorders v0.10
MAPK8IP3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, 618443 for gene: MAPK8IP3
20 Feb 2020
Severe Paediatric Disorders v0.10
MAP3K20
Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
20 Feb 2020
Severe Paediatric Disorders v0.10
MAGT1
Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
20 Feb 2020
Severe Paediatric Disorders v0.10
MACF1
Louise Daugherty Added phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 for gene: MACF1
20 Feb 2020
Severe Paediatric Disorders v0.10
MAB21L2
Louise Daugherty Added phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 for gene: MAB21L2
20 Feb 2020
Severe Paediatric Disorders v0.10
LTBP2
Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
20 Feb 2020
Severe Paediatric Disorders v0.10
LRSAM1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, 614436 for gene: LRSAM1
20 Feb 2020
Severe Paediatric Disorders v0.10
LRP5
Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
20 Feb 2020
Severe Paediatric Disorders v0.10
LRP4
Louise Daugherty Added phenotypes Cenani-Lenz syndactyly syndrome, 212780; ?Myasthenic syndrome, congenital, 17, 616304; Sclerosteosis 2, 614305 for gene: LRP4
20 Feb 2020
Severe Paediatric Disorders v0.10
LRBA
Louise Daugherty Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 for gene: LRBA
20 Feb 2020
Severe Paediatric Disorders v0.10
LNPK
Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 for gene: LNPK
20 Feb 2020
Severe Paediatric Disorders v0.10
LMOD3
Louise Daugherty Added phenotypes Nemaline myopathy 10, 616165 for gene: LMOD3
20 Feb 2020
Severe Paediatric Disorders v0.10
LMNA
Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
20 Feb 2020
Severe Paediatric Disorders v0.10
LMBRD1
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
20 Feb 2020
Severe Paediatric Disorders v0.10
LMBR1
Louise Daugherty Added phenotypes Syndactyly, type IV, 186200; Hypoplastic or aplastic tibia with polydactyly, 188740; Triphalangeal thumb, type I, 174500; Triphalangeal thumb-polysyndactyly syndrome, 174500; Polydactyly, preaxial type II, 174500; Laurin-Sandrow syndrome, 135750; Acheiropody, 200500 for gene: LMBR1
20 Feb 2020
Severe Paediatric Disorders v0.10
LITAF
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 for gene: LITAF
20 Feb 2020
Severe Paediatric Disorders v0.10
LIPT2
Louise Daugherty Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
20 Feb 2020
Severe Paediatric Disorders v0.10
LGI4
Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
20 Feb 2020
Severe Paediatric Disorders v0.10
LEMD3
Louise Daugherty Added phenotypes Buschke-Ollendorff syndrome, 166700; Osteopoikilosis with or without melorheostosis, 166700 for gene: LEMD3
20 Feb 2020
Severe Paediatric Disorders v0.10
LDB3
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
20 Feb 2020
Severe Paediatric Disorders v0.10
LBR
Louise Daugherty Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies, 618019; Pelger-Huet anomaly, 169400; ?Reynolds syndrome, 613471; Greenberg skeletal dysplasia, 215140 for gene: LBR
20 Feb 2020
Severe Paediatric Disorders v0.10
LARGE1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 for gene: LARGE1
20 Feb 2020
Severe Paediatric Disorders v0.10
LAMB2
Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
20 Feb 2020
Severe Paediatric Disorders v0.10
L1CAM
Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
20 Feb 2020
Severe Paediatric Disorders v0.10
KRT14
Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
20 Feb 2020
Severe Paediatric Disorders v0.10
KRIT1
Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1
20 Feb 2020
Severe Paediatric Disorders v0.10
KLHL41
Louise Daugherty Added phenotypes Nemaline myopathy 9, 615731 for gene: KLHL41
20 Feb 2020
Severe Paediatric Disorders v0.10
KLHL40
Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
20 Feb 2020
Severe Paediatric Disorders v0.10
KLF1
Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
20 Feb 2020
Severe Paediatric Disorders v0.10
KIF7
Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
20 Feb 2020
Severe Paediatric Disorders v0.10
KIF5C
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
20 Feb 2020
Severe Paediatric Disorders v0.10
KIF2A
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
20 Feb 2020
Severe Paediatric Disorders v0.10
KIF23
Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
20 Feb 2020
Severe Paediatric Disorders v0.10
KIF22
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
20 Feb 2020
Severe Paediatric Disorders v0.10
KIF1A
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
20 Feb 2020
Severe Paediatric Disorders v0.10
KIF11
Louise Daugherty Added phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 for gene: KIF11
20 Feb 2020
Severe Paediatric Disorders v0.10
KIAA0586
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
20 Feb 2020
Severe Paediatric Disorders v0.10
KDSR
Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
20 Feb 2020
Severe Paediatric Disorders v0.10
KCTD7
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
20 Feb 2020
Severe Paediatric Disorders v0.10
KCTD3
Louise Daugherty Added phenotypes Developmental epileptic encephalopathy for gene: KCTD3
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNT1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 14, 614959; Epilepsy, nocturnal frontal lobe, 5, 615005 for gene: KCNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNQ2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 for gene: KCNQ2
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNMA1
Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNK4
Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNJ11
Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNB1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 26, 616056 for gene: KCNB1
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNA2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 32, 616366 for gene: KCNA2
20 Feb 2020
Severe Paediatric Disorders v0.10
KBTBD13
Louise Daugherty Added phenotypes Nemaline myopathy 6, autosomal dominant, 609273 for gene: KBTBD13
20 Feb 2020
Severe Paediatric Disorders v0.10
KATNB1
Louise Daugherty Added phenotypes Lissencephaly 6, with microcephaly, 616212 for gene: KATNB1
20 Feb 2020
Severe Paediatric Disorders v0.10
KARS
Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
20 Feb 2020
Severe Paediatric Disorders v0.10
JUP
Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 12, 611528; Naxos disease, 601214 for gene: JUP
20 Feb 2020
Severe Paediatric Disorders v0.10
JPH2
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 17, 613873 for gene: JPH2
20 Feb 2020
Severe Paediatric Disorders v0.10
JAM3
Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
20 Feb 2020
Severe Paediatric Disorders v0.10
ITPA
Louise Daugherty Added phenotypes [Inosine triphosphatase deficiency], 613850; Epileptic encephalopathy, early infantile, 35, 616647 for gene: ITPA
20 Feb 2020
Severe Paediatric Disorders v0.10
ITGB4
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
20 Feb 2020
Severe Paediatric Disorders v0.10
ITGB3
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
20 Feb 2020
Severe Paediatric Disorders v0.10
ITGA6
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
20 Feb 2020
Severe Paediatric Disorders v0.10
ITGA2B
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
20 Feb 2020
Severe Paediatric Disorders v0.10
ITCH
Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
20 Feb 2020
Severe Paediatric Disorders v0.10
ISCU
Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
20 Feb 2020
Severe Paediatric Disorders v0.10
IRF2BPL
Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
20 Feb 2020
Severe Paediatric Disorders v0.10
INVS
Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
20 Feb 2020
Severe Paediatric Disorders v0.10
INTU
Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
20 Feb 2020
Severe Paediatric Disorders v0.10
INTS1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
20 Feb 2020
Severe Paediatric Disorders v0.10
INSR
Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
20 Feb 2020
Severe Paediatric Disorders v0.10
INPP5K
Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K
20 Feb 2020
Severe Paediatric Disorders v0.10
INF2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
20 Feb 2020
Severe Paediatric Disorders v0.10
IMPAD1
Louise Daugherty Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 for gene: IMPAD1
20 Feb 2020
Severe Paediatric Disorders v0.10
IL2RA
Louise Daugherty Added phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 for gene: IL2RA
20 Feb 2020
Severe Paediatric Disorders v0.10
IGSF1
Louise Daugherty Added phenotypes Hypothyroidism, central, and testicular enlargement, 300888 for gene: IGSF1
20 Feb 2020
Severe Paediatric Disorders v0.10
IGHMBP2
Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 for gene: IGHMBP2
20 Feb 2020
Severe Paediatric Disorders v0.10
IGF2
Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
20 Feb 2020
Severe Paediatric Disorders v0.10
IGF1R
Louise Daugherty Added phenotypes Insulin-like growth factor I, resistance to, 270450 for gene: IGF1R
20 Feb 2020
Severe Paediatric Disorders v0.10
IGF1
Louise Daugherty Added phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 for gene: IGF1
20 Feb 2020
Severe Paediatric Disorders v0.10
IFT81
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
20 Feb 2020
Severe Paediatric Disorders v0.10
IFT80
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
20 Feb 2020
Severe Paediatric Disorders v0.10
IFT52
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
20 Feb 2020
Severe Paediatric Disorders v0.10
IFT43
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
20 Feb 2020
Severe Paediatric Disorders v0.10
IFT172
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
20 Feb 2020
Severe Paediatric Disorders v0.10
IFT140
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
20 Feb 2020
Severe Paediatric Disorders v0.10
IARS2
Louise Daugherty Added phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 for gene: IARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
IARS
Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
20 Feb 2020
Severe Paediatric Disorders v0.10
HYLS1
Louise Daugherty Added phenotypes Hydrolethalus syndrome, 236680 for gene: HYLS1
20 Feb 2020
Severe Paediatric Disorders v0.10
HTRA2
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
20 Feb 2020
Severe Paediatric Disorders v0.10
HTRA1
Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
20 Feb 2020
Severe Paediatric Disorders v0.10
HSPB8
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8
20 Feb 2020
Severe Paediatric Disorders v0.10
HSPB1
Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot-Marie-Tooth disease, axonal, type 2F, 606595 for gene: HSPB1
20 Feb 2020
Severe Paediatric Disorders v0.10
HSD3B7
Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 1, 607765 for gene: HSD3B7
20 Feb 2020
Severe Paediatric Disorders v0.10
HSD17B3
Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
20 Feb 2020
Severe Paediatric Disorders v0.10
HRAS
Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
20 Feb 2020
Severe Paediatric Disorders v0.10
HR
Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
20 Feb 2020
Severe Paediatric Disorders v0.10
HPGD
Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
20 Feb 2020
Severe Paediatric Disorders v0.10
HOXA11
Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
20 Feb 2020
Severe Paediatric Disorders v0.10
HOXA1
Louise Daugherty Added phenotypes Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536 for gene: HOXA1
20 Feb 2020
Severe Paediatric Disorders v0.10
HNRNPU
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 54, 617391 for gene: HNRNPU
20 Feb 2020
Severe Paediatric Disorders v0.10
HNF4A
Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
20 Feb 2020
Severe Paediatric Disorders v0.10
HMGCS2
Louise Daugherty Added phenotypes HMG-CoA synthase-2 deficiency, 605911 for gene: HMGCS2
20 Feb 2020
Severe Paediatric Disorders v0.10
HMBS
Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
20 Feb 2020
Severe Paediatric Disorders v0.10
HLCS
Louise Daugherty Added phenotypes Holocarboxylase synthetase deficiency, 253270 for gene: HLCS
20 Feb 2020
Severe Paediatric Disorders v0.10
HK1
Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1
20 Feb 2020
Severe Paediatric Disorders v0.10
HINT1
Louise Daugherty Added phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 for gene: HINT1
20 Feb 2020
Severe Paediatric Disorders v0.10
HESX1
Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 5, 182230; Growth hormone deficiency with pituitary anomalies, 182230; Septooptic dysplasia, 182230 for gene: HESX1
20 Feb 2020
Severe Paediatric Disorders v0.10
HEPACAM
Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
20 Feb 2020
Severe Paediatric Disorders v0.10
HECW2
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 for gene: HECW2
20 Feb 2020
Severe Paediatric Disorders v0.10
HCN1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 24, 615871; Generalized epilepsy with febrile seizures plus, type 10, 618482 for gene: HCN1
20 Feb 2020
Severe Paediatric Disorders v0.10
HCFC1
Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
20 Feb 2020
Severe Paediatric Disorders v0.10
HCCS
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
20 Feb 2020
Severe Paediatric Disorders v0.10
HBB
Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
20 Feb 2020
Severe Paediatric Disorders v0.10
HBA2
Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
20 Feb 2020
Severe Paediatric Disorders v0.10
HBA1
Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
20 Feb 2020
Severe Paediatric Disorders v0.10
HACE1
Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
20 Feb 2020
Severe Paediatric Disorders v0.10
H19
Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
20 Feb 2020
Severe Paediatric Disorders v0.10
GYG1
Louise Daugherty Added phenotypes Polyglucosan body myopathy 2, 616199; ?Glycogen storage disease XV, 613507 for gene: GYG1
20 Feb 2020
Severe Paediatric Disorders v0.10
GTF2H5
Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
20 Feb 2020
Severe Paediatric Disorders v0.10
GSS
Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130 for gene: GSS
20 Feb 2020
Severe Paediatric Disorders v0.10
GRN
Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
20 Feb 2020
Severe Paediatric Disorders v0.10
GRIN2D
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 46, 617162 for gene: GRIN2D
20 Feb 2020
Severe Paediatric Disorders v0.10
GRIN2B
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 27, 616139; Mental retardation, autosomal dominant 6, 613970 for gene: GRIN2B
20 Feb 2020
Severe Paediatric Disorders v0.10
GRIN2A
Louise Daugherty Added phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 for gene: GRIN2A
20 Feb 2020
Severe Paediatric Disorders v0.10
GRIN1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1
20 Feb 2020
Severe Paediatric Disorders v0.10
GRIA4
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 for gene: GRIA4
20 Feb 2020
Severe Paediatric Disorders v0.10
GRIA2
Louise Daugherty Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2
20 Feb 2020
Severe Paediatric Disorders v0.10
GPAA1
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
20 Feb 2020
Severe Paediatric Disorders v0.10
GNMT
Louise Daugherty Added phenotypes Glycine N-methyltransferase deficiency, 606664 for gene: GNMT
20 Feb 2020
Severe Paediatric Disorders v0.10
GNE
Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
20 Feb 2020
Severe Paediatric Disorders v0.10
GNB5
Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 for gene: GNB5
20 Feb 2020
Severe Paediatric Disorders v0.10
GNAS
Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS
20 Feb 2020
Severe Paediatric Disorders v0.10
GNAO1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 17, 615473; Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
20 Feb 2020
Severe Paediatric Disorders v0.10
GMPPB
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB
20 Feb 2020
Severe Paediatric Disorders v0.10
GLRX5
Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
20 Feb 2020
Severe Paediatric Disorders v0.10
GLIS3
Louise Daugherty Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 for gene: GLIS3
20 Feb 2020
Severe Paediatric Disorders v0.10
GLE1
Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
20 Feb 2020
Severe Paediatric Disorders v0.10
GLDN
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
20 Feb 2020
Severe Paediatric Disorders v0.10
GLDC
Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: GLDC
20 Feb 2020
Severe Paediatric Disorders v0.10
GJB3
Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
20 Feb 2020
Severe Paediatric Disorders v0.10
GJB2
Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
20 Feb 2020
Severe Paediatric Disorders v0.10
GJB1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
20 Feb 2020
Severe Paediatric Disorders v0.10
GJA1
Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
20 Feb 2020
Severe Paediatric Disorders v0.10
GHRHR
Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
20 Feb 2020
Severe Paediatric Disorders v0.10
GHR
Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
20 Feb 2020
Severe Paediatric Disorders v0.10
GH1
Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
20 Feb 2020
Severe Paediatric Disorders v0.10
GGCX
Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
20 Feb 2020
Severe Paediatric Disorders v0.10
GFPT1
Louise Daugherty Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
20 Feb 2020
Severe Paediatric Disorders v0.10
GFER
Louise Daugherty Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 for gene: GFER
20 Feb 2020
Severe Paediatric Disorders v0.10
GDF6
Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
20 Feb 2020
Severe Paediatric Disorders v0.10
GDF5
Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
20 Feb 2020
Severe Paediatric Disorders v0.10
GDAP1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
GCLC
Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 for gene: GCLC
20 Feb 2020
Severe Paediatric Disorders v0.10
GCH1
Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
20 Feb 2020
Severe Paediatric Disorders v0.10
GBA
Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
20 Feb 2020
Severe Paediatric Disorders v0.10
GATA4
Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
20 Feb 2020
Severe Paediatric Disorders v0.10
GATA3
Louise Daugherty Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
20 Feb 2020
Severe Paediatric Disorders v0.10
GATA1
Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
20 Feb 2020
Severe Paediatric Disorders v0.10
GARS
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS
20 Feb 2020
Severe Paediatric Disorders v0.10
GAN
Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
20 Feb 2020
Severe Paediatric Disorders v0.10
GALK1
Louise Daugherty Added phenotypes Galactokinase deficiency with cataracts, 230200 for gene: GALK1
20 Feb 2020
Severe Paediatric Disorders v0.10
GABRG2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 74, 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681; Febrile seizures, familial, 8, 607681 for gene: GABRG2
20 Feb 2020
Severe Paediatric Disorders v0.10
GABRB3
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 43, 617113 for gene: GABRB3
20 Feb 2020
Severe Paediatric Disorders v0.10
GABRB2
Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 for gene: GABRB2
20 Feb 2020
Severe Paediatric Disorders v0.10
GABRA2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 78, 618557 for gene: GABRA2
20 Feb 2020
Severe Paediatric Disorders v0.10
GABRA1
Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
20 Feb 2020
Severe Paediatric Disorders v0.10
GABBR2
Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
20 Feb 2020
Severe Paediatric Disorders v0.10
FYB1
Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
20 Feb 2020
Severe Paediatric Disorders v0.10
FXN
Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
20 Feb 2020
Severe Paediatric Disorders v0.10
FUT8
Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
20 Feb 2020
Severe Paediatric Disorders v0.10
FTL
Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
20 Feb 2020
Severe Paediatric Disorders v0.10
FRRS1L
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
20 Feb 2020
Severe Paediatric Disorders v0.10
FREM2
Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
20 Feb 2020
Severe Paediatric Disorders v0.10
FREM1
Louise Daugherty Added phenotypes Trigonocephaly 2, 614485; Manitoba oculotrichoanal syndrome, 248450; Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
20 Feb 2020
Severe Paediatric Disorders v0.10
FOXP3
Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
20 Feb 2020
Severe Paediatric Disorders v0.10
FOXP1
Louise Daugherty Added phenotypes Mental retardation with language impairment and with or without autistic features, 613670 for gene: FOXP1
20 Feb 2020
Severe Paediatric Disorders v0.10
FOXF1
Louise Daugherty Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 for gene: FOXF1
20 Feb 2020
Severe Paediatric Disorders v0.10
FOXE1
Louise Daugherty Added phenotypes Bamforth-Lazarus syndrome, 241850 for gene: FOXE1
20 Feb 2020
Severe Paediatric Disorders v0.10
FOXC2
Louise Daugherty Added phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400 for gene: FOXC2
20 Feb 2020
Severe Paediatric Disorders v0.10
FN1
Louise Daugherty Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1
20 Feb 2020
Severe Paediatric Disorders v0.10
FMO3
Louise Daugherty Added phenotypes Trimethylaminuria, 602079 for gene: FMO3
20 Feb 2020
Severe Paediatric Disorders v0.10
FLVCR2
Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
20 Feb 2020
Severe Paediatric Disorders v0.10
FLVCR1
Louise Daugherty Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
20 Feb 2020
Severe Paediatric Disorders v0.10
FLNC
Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC
20 Feb 2020
Severe Paediatric Disorders v0.10
FLCN
Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
20 Feb 2020
Severe Paediatric Disorders v0.10
FLAD1
Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
20 Feb 2020
Severe Paediatric Disorders v0.10
FKTN
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
20 Feb 2020
Severe Paediatric Disorders v0.10
FKRP
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 for gene: FKRP
20 Feb 2020
Severe Paediatric Disorders v0.10
FIG4
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
20 Feb 2020
Severe Paediatric Disorders v0.10
FHL1
Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
20 Feb 2020
Severe Paediatric Disorders v0.10
FGFR3
Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
20 Feb 2020
Severe Paediatric Disorders v0.10
FGFR2
Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
20 Feb 2020
Severe Paediatric Disorders v0.10
FGFR1
Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
20 Feb 2020
Severe Paediatric Disorders v0.10
FGF8
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
20 Feb 2020
Severe Paediatric Disorders v0.10
FGF3
Louise Daugherty Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 for gene: FGF3
20 Feb 2020
Severe Paediatric Disorders v0.10
FGF12
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
20 Feb 2020
Severe Paediatric Disorders v0.10
FGD4
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 for gene: FGD4
20 Feb 2020
Severe Paediatric Disorders v0.10
FECH
Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
20 Feb 2020
Severe Paediatric Disorders v0.10
FDXR
Louise Daugherty Added phenotypes Auditory neuropathy and optic atrophy, 617717 for gene: FDXR
20 Feb 2020
Severe Paediatric Disorders v0.10
FDX2
Louise Daugherty Added phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 for gene: FDX2
20 Feb 2020
Severe Paediatric Disorders v0.10
FBXO11
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
20 Feb 2020
Severe Paediatric Disorders v0.10
FBXL4
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
20 Feb 2020
Severe Paediatric Disorders v0.10
FBXL3
Louise Daugherty Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3
20 Feb 2020
Severe Paediatric Disorders v0.10
FBLN5
Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
20 Feb 2020
Severe Paediatric Disorders v0.10
FAM111B
Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
20 Feb 2020
Severe Paediatric Disorders v0.10
FADD
Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
20 Feb 2020
Severe Paediatric Disorders v0.10
F9
Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
20 Feb 2020
Severe Paediatric Disorders v0.10
F2
Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
20 Feb 2020
Severe Paediatric Disorders v0.10
EYA4
Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
20 Feb 2020
Severe Paediatric Disorders v0.10
EYA1
Louise Daugherty Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
20 Feb 2020
Severe Paediatric Disorders v0.10
EXTL3
Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
20 Feb 2020
Severe Paediatric Disorders v0.10
ETV6
Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
20 Feb 2020
Severe Paediatric Disorders v0.10
ETHE1
Louise Daugherty Added phenotypes Ethylmalonic encephalopathy, 602473 for gene: ETHE1
20 Feb 2020
Severe Paediatric Disorders v0.10
ERCC3
Louise Daugherty Added phenotypes Trichothiodystrophy 2, photosensitive, 616390; Xeroderma pigmentosum, group B, 610651 for gene: ERCC3
20 Feb 2020
Severe Paediatric Disorders v0.10
ERCC2
Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2
20 Feb 2020
Severe Paediatric Disorders v0.10
ELOVL4
Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
20 Feb 2020
Severe Paediatric Disorders v0.10
EIF4A3
Louise Daugherty Added phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 for gene: EIF4A3
20 Feb 2020
Severe Paediatric Disorders v0.10
EIF2B5
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
20 Feb 2020
Severe Paediatric Disorders v0.10
EIF2B4
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
20 Feb 2020
Severe Paediatric Disorders v0.10
EIF2B3
Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
20 Feb 2020
Severe Paediatric Disorders v0.10
EIF2B2
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
20 Feb 2020
Severe Paediatric Disorders v0.10
EIF2B1
Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
20 Feb 2020
Severe Paediatric Disorders v0.10
EGR2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1D, 607678; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 1, 605253 for gene: EGR2
20 Feb 2020
Severe Paediatric Disorders v0.10
EEF1A2
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 38, 616393; Epileptic encephalopathy, early infantile, 33, 616409 for gene: EEF1A2
20 Feb 2020
Severe Paediatric Disorders v0.10
EDNRA
Louise Daugherty Added phenotypes Mandibulofacial dysostosis with alopecia, 616367 for gene: EDNRA
20 Feb 2020
Severe Paediatric Disorders v0.10
EDARADD
Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
20 Feb 2020
Severe Paediatric Disorders v0.10
EDAR
Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
20 Feb 2020
Severe Paediatric Disorders v0.10
EDA
Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
20 Feb 2020
Severe Paediatric Disorders v0.10
ECEL1
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
20 Feb 2020
Severe Paediatric Disorders v0.10
DYSF
Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
20 Feb 2020
Severe Paediatric Disorders v0.10
DYNC2LI1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
20 Feb 2020
Severe Paediatric Disorders v0.10
DYNC2H1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
20 Feb 2020
Severe Paediatric Disorders v0.10
DYNC1H1
Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1
20 Feb 2020
Severe Paediatric Disorders v0.10
DYM
Louise Daugherty Added phenotypes Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326 for gene: DYM
20 Feb 2020
Severe Paediatric Disorders v0.10
DUOX2
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
20 Feb 2020
Severe Paediatric Disorders v0.10
DSPP
Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
20 Feb 2020
Severe Paediatric Disorders v0.10
DSP
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
20 Feb 2020
Severe Paediatric Disorders v0.10
DPM3
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
20 Feb 2020
Severe Paediatric Disorders v0.10
DPH1
Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
20 Feb 2020
Severe Paediatric Disorders v0.10
DPAGT1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
20 Feb 2020
Severe Paediatric Disorders v0.10
DOK7
Louise Daugherty Added phenotypes ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 for gene: DOK7
20 Feb 2020
Severe Paediatric Disorders v0.10
DOCK7
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 23, 615859 for gene: DOCK7
20 Feb 2020
Severe Paediatric Disorders v0.10
DOCK3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
20 Feb 2020
Severe Paediatric Disorders v0.10
DNMT1
Louise Daugherty Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1
20 Feb 2020
Severe Paediatric Disorders v0.10
DNM2
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
20 Feb 2020
Severe Paediatric Disorders v0.10
DNM1L
Louise Daugherty Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L
20 Feb 2020
Severe Paediatric Disorders v0.10
DNM1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 31, 616346 for gene: DNM1
20 Feb 2020
Severe Paediatric Disorders v0.10
DNASE2
Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
20 Feb 2020
Severe Paediatric Disorders v0.10
DNAJC19
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type V, 610198 for gene: DNAJC19
20 Feb 2020
Severe Paediatric Disorders v0.10
DNAJB11
Louise Daugherty Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 for gene: DNAJB11
20 Feb 2020
Severe Paediatric Disorders v0.10
DNAI1
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
20 Feb 2020
Severe Paediatric Disorders v0.10
DNAH5
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
20 Feb 2020
Severe Paediatric Disorders v0.10
DNAH11
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
20 Feb 2020
Severe Paediatric Disorders v0.10
DNA2
Louise Daugherty Added phenotypes ?Seckel syndrome 8, 615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 for gene: DNA2
20 Feb 2020
Severe Paediatric Disorders v0.10
DMD
Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
20 Feb 2020
Severe Paediatric Disorders v0.10
DLX5
Louise Daugherty Added phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 for gene: DLX5
20 Feb 2020
Severe Paediatric Disorders v0.10
DLG4
Louise Daugherty Added phenotypes Intellectual disability with marfanoid features for gene: DLG4
20 Feb 2020
Severe Paediatric Disorders v0.10
DHX30
Louise Daugherty Added phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, 617804 for gene: DHX30
20 Feb 2020
Severe Paediatric Disorders v0.10
DHTKD1
Louise Daugherty Added phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 for gene: DHTKD1
20 Feb 2020
Severe Paediatric Disorders v0.10
DHPS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 for gene: DHPS
20 Feb 2020
Severe Paediatric Disorders v0.10
DHDDS
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
20 Feb 2020
Severe Paediatric Disorders v0.10
DHCR7
Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
20 Feb 2020
Severe Paediatric Disorders v0.10
DGUOK
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
20 Feb 2020
Severe Paediatric Disorders v0.10
DES
Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
20 Feb 2020
Severe Paediatric Disorders v0.10
DEPDC5
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 1, 604364 for gene: DEPDC5
20 Feb 2020
Severe Paediatric Disorders v0.10
DENND5A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 49, 617281 for gene: DENND5A
20 Feb 2020
Severe Paediatric Disorders v0.10
DCTN1
Louise Daugherty Added phenotypes Perry syndrome, 168605; Neuropathy, distal hereditary motor, type VIIB, 607641 for gene: DCTN1
20 Feb 2020
Severe Paediatric Disorders v0.10
DCLRE1C
Louise Daugherty Added phenotypes Omenn syndrome, 603554; Severe combined immunodeficiency, Athabascan type, 602450 for gene: DCLRE1C
20 Feb 2020
Severe Paediatric Disorders v0.10
DCDC2
Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
20 Feb 2020
Severe Paediatric Disorders v0.10
DCC
Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC
20 Feb 2020
Severe Paediatric Disorders v0.10
DBH
Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
20 Feb 2020
Severe Paediatric Disorders v0.10
DARS2
Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
DARS
Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
20 Feb 2020
Severe Paediatric Disorders v0.10
DAG1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 for gene: DAG1
20 Feb 2020
Severe Paediatric Disorders v0.10
CYP7B1
Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
20 Feb 2020
Severe Paediatric Disorders v0.10
CYP4F22
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
20 Feb 2020
Severe Paediatric Disorders v0.10
CYP27A1
Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
20 Feb 2020
Severe Paediatric Disorders v0.10
CYP11A1
Louise Daugherty Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 for gene: CYP11A1
20 Feb 2020
Severe Paediatric Disorders v0.10
CYFIP2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2
20 Feb 2020
Severe Paediatric Disorders v0.10
CYCS
Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
20 Feb 2020
Severe Paediatric Disorders v0.10
CYB5R3
Louise Daugherty Added phenotypes Methemoglobinemia, type I, 250800; Methemoglobinemia, type II, 250800 for gene: CYB5R3
20 Feb 2020
Severe Paediatric Disorders v0.10
CXCR4
Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
20 Feb 2020
Severe Paediatric Disorders v0.10
CWC27
Louise Daugherty Added phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 for gene: CWC27
20 Feb 2020
Severe Paediatric Disorders v0.10
CUX2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 67, 618141 for gene: CUX2
20 Feb 2020
Severe Paediatric Disorders v0.10
CUX1
Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
20 Feb 2020
Severe Paediatric Disorders v0.10
CTNS
Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
20 Feb 2020
Severe Paediatric Disorders v0.10
CTNNB1
Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
20 Feb 2020
Severe Paediatric Disorders v0.10
CTNNA2
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 9, 618174 for gene: CTNNA2
20 Feb 2020
Severe Paediatric Disorders v0.10
CTH
Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
20 Feb 2020
Severe Paediatric Disorders v0.10
CTDP1
Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
20 Feb 2020
Severe Paediatric Disorders v0.10
CTC1
Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
20 Feb 2020
Severe Paediatric Disorders v0.10
CTBP1
Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1
20 Feb 2020
Severe Paediatric Disorders v0.10
CSNK2B
Louise Daugherty Added phenotypes Intellectual disability with or without myoclonic epilepsy. for gene: CSNK2B
20 Feb 2020
Severe Paediatric Disorders v0.10
CSF1R
Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
20 Feb 2020
Severe Paediatric Disorders v0.10
CRYAB
Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
20 Feb 2020
Severe Paediatric Disorders v0.10
ISPD
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD
20 Feb 2020
Severe Paediatric Disorders v0.10
CRIPT
Louise Daugherty Added phenotypes Short stature with microcephaly and distinctive facies, 615789 for gene: CRIPT
20 Feb 2020
Severe Paediatric Disorders v0.10
CRB2
Louise Daugherty Added phenotypes Focal segmental glomerulosclerosis 9, 616220; Ventriculomegaly with cystic kidney disease, 219730 for gene: CRB2
20 Feb 2020
Severe Paediatric Disorders v0.10
CRADD
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
20 Feb 2020
Severe Paediatric Disorders v0.10
CPT2
Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
20 Feb 2020
Severe Paediatric Disorders v0.10
CPS1
Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
20 Feb 2020
Severe Paediatric Disorders v0.10
COX7B
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
20 Feb 2020
Severe Paediatric Disorders v0.10
COX6A1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COX15
Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
20 Feb 2020
Severe Paediatric Disorders v0.10
COLQ
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
20 Feb 2020
Severe Paediatric Disorders v0.10
COL9A3
Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 for gene: COL9A3
20 Feb 2020
Severe Paediatric Disorders v0.10
COL7A1
Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL6A3
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090; Dystonia 27, 616411 for gene: COL6A3
20 Feb 2020
Severe Paediatric Disorders v0.10
COL6A2
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; ?Myosclerosis, congenital, 255600; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A2
20 Feb 2020
Severe Paediatric Disorders v0.10
COL6A1
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL4A1
Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL3A1
Louise Daugherty Added phenotypes Polymicrogyria with or without vascular-type EDS, 618343; Ehlers-Danlos syndrome, vascular type, 130050 for gene: COL3A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL2A1
Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL1A2
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
20 Feb 2020
Severe Paediatric Disorders v0.10
COL1A1
Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL17A1
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL13A1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 19, 616720 for gene: COL13A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COL12A1
Louise Daugherty Added phenotypes ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 for gene: COL12A1
20 Feb 2020
Severe Paediatric Disorders v0.10
COASY
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
20 Feb 2020
Severe Paediatric Disorders v0.10
COA7
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 for gene: COA7
20 Feb 2020
Severe Paediatric Disorders v0.10
COA6
Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
20 Feb 2020
Severe Paediatric Disorders v0.10
CNTNAP1
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
CNPY3
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 60, 617929 for gene: CNPY3
20 Feb 2020
Severe Paediatric Disorders v0.10
CNOT1
Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
20 Feb 2020
Severe Paediatric Disorders v0.10
CLPB
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
20 Feb 2020
Severe Paediatric Disorders v0.10
CLN8
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
20 Feb 2020
Severe Paediatric Disorders v0.10
CLDN19
Louise Daugherty Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
20 Feb 2020
Severe Paediatric Disorders v0.10
CLDN1
Louise Daugherty Added phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 for gene: CLDN1
20 Feb 2020
Severe Paediatric Disorders v0.10
CLCN5
Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
20 Feb 2020
Severe Paediatric Disorders v0.10
CLCN2
Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651; Hyperaldosteronism, familial, type II, 605635; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 for gene: CLCN2
20 Feb 2020
Severe Paediatric Disorders v0.10
CHST3
Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 for gene: CHST3
20 Feb 2020
Severe Paediatric Disorders v0.10
CHRNG
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
20 Feb 2020
Severe Paediatric Disorders v0.10
CHRNE
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
20 Feb 2020
Severe Paediatric Disorders v0.10
CHRND
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
20 Feb 2020
Severe Paediatric Disorders v0.10
CHRNB1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
20 Feb 2020
Severe Paediatric Disorders v0.10
CHRNA1
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
20 Feb 2020
Severe Paediatric Disorders v0.10
CHD8
Louise Daugherty Added phenotypes autism susceptibility; Overgrowth with Intellectual disability for gene: CHD8
20 Feb 2020
Severe Paediatric Disorders v0.10
CHD7
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800 for gene: CHD7
20 Feb 2020
Severe Paediatric Disorders v0.10
CHD2
Louise Daugherty Added phenotypes Epileptic encephalopathy, childhood-onset, 615369 for gene: CHD2
20 Feb 2020
Severe Paediatric Disorders v0.10
CHCHD10
Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
20 Feb 2020
Severe Paediatric Disorders v0.10
CHAT
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 for gene: CHAT
20 Feb 2020
Severe Paediatric Disorders v0.10
CFTR
Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
20 Feb 2020
Severe Paediatric Disorders v0.10
CFL2
Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
20 Feb 2020
Severe Paediatric Disorders v0.10
CFHR5
Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
20 Feb 2020
Severe Paediatric Disorders v0.10
C21orf2
Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
20 Feb 2020
Severe Paediatric Disorders v0.10
CEP83
Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
20 Feb 2020
Severe Paediatric Disorders v0.10
CEP164
Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
20 Feb 2020
Severe Paediatric Disorders v0.10
CEP120
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
20 Feb 2020
Severe Paediatric Disorders v0.10
CDKN1C
Louise Daugherty Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C
20 Feb 2020
Severe Paediatric Disorders v0.10
CDKL5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5
20 Feb 2020
Severe Paediatric Disorders v0.10
CDH3
Louise Daugherty Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
20 Feb 2020
Severe Paediatric Disorders v0.10
CDAN1
Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
20 Feb 2020
Severe Paediatric Disorders v0.10
CD59
Louise Daugherty Added phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 for gene: CD59
20 Feb 2020
Severe Paediatric Disorders v0.10
CD55
Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
20 Feb 2020
Severe Paediatric Disorders v0.10
CD40LG
Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
20 Feb 2020
Severe Paediatric Disorders v0.10
CD40
Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
20 Feb 2020
Severe Paediatric Disorders v0.10
CCT5
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
20 Feb 2020
Severe Paediatric Disorders v0.10
WISP3
Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
20 Feb 2020
Severe Paediatric Disorders v0.10
CBS
Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
20 Feb 2020
Severe Paediatric Disorders v0.10
CBL
Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
20 Feb 2020
Severe Paediatric Disorders v0.10
CAV3
Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3
20 Feb 2020
Severe Paediatric Disorders v0.10
CASR
Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR
20 Feb 2020
Severe Paediatric Disorders v0.10
CASQ1
Louise Daugherty Added phenotypes Myopathy, vacuolar, with CASQ1 aggregates, 616231 for gene: CASQ1
20 Feb 2020
Severe Paediatric Disorders v0.10
CASK
Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK
20 Feb 2020
Severe Paediatric Disorders v0.10
CARD11
Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
20 Feb 2020
Severe Paediatric Disorders v0.10
CAMTA1
Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
20 Feb 2020
Severe Paediatric Disorders v0.10
CAD
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 50, 616457 for gene: CAD
20 Feb 2020
Severe Paediatric Disorders v0.10
CACNA1G
Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 for gene: CACNA1G
20 Feb 2020
Severe Paediatric Disorders v0.10
CACNA1E
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 69, 618285 for gene: CACNA1E
20 Feb 2020
Severe Paediatric Disorders v0.10
CACNA1C
Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
20 Feb 2020
Severe Paediatric Disorders v0.10
CACNA1B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 for gene: CACNA1B
20 Feb 2020
Severe Paediatric Disorders v0.10
CACNA1A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A
20 Feb 2020
Severe Paediatric Disorders v0.10
CA8
Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
20 Feb 2020
Severe Paediatric Disorders v0.10
CA2
Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 for gene: CA2
20 Feb 2020
Severe Paediatric Disorders v0.10
C19orf12
Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
20 Feb 2020
Severe Paediatric Disorders v0.10
C15orf41
Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
20 Feb 2020
Severe Paediatric Disorders v0.10
BTK
Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
20 Feb 2020
Severe Paediatric Disorders v0.10
BSND
Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
20 Feb 2020
Severe Paediatric Disorders v0.10
BSCL2
Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
20 Feb 2020
Severe Paediatric Disorders v0.10
BRPF1
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
20 Feb 2020
Severe Paediatric Disorders v0.10
BRAT1
Louise Daugherty Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 for gene: BRAT1
20 Feb 2020
Severe Paediatric Disorders v0.10
BPTF
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
20 Feb 2020
Severe Paediatric Disorders v0.10
BOLA3
Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
20 Feb 2020
Severe Paediatric Disorders v0.10
BMP4
Louise Daugherty Added phenotypes Microphthalmia, syndromic 6, 607932; Orofacial cleft 11, 600625 for gene: BMP4
20 Feb 2020
Severe Paediatric Disorders v0.10
BMP2
Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
20 Feb 2020
Severe Paediatric Disorders v0.10
BIN1
Louise Daugherty Added phenotypes Centronuclear myopathy 2, 255200 for gene: BIN1
20 Feb 2020
Severe Paediatric Disorders v0.10
BHLHA9
Louise Daugherty Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 for gene: BHLHA9
20 Feb 2020
Severe Paediatric Disorders v0.10
BCOR
Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
20 Feb 2020
Severe Paediatric Disorders v0.10
BCL11B
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
20 Feb 2020
Severe Paediatric Disorders v0.10
BAG3
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
20 Feb 2020
Severe Paediatric Disorders v0.10
B4GAT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 for gene: B4GAT1
20 Feb 2020
Severe Paediatric Disorders v0.10
B3GAT3
Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
20 Feb 2020
Severe Paediatric Disorders v0.10
B3GALT6
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6
20 Feb 2020
Severe Paediatric Disorders v0.10
B3GALNT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 for gene: B3GALNT2
20 Feb 2020
Severe Paediatric Disorders v0.10
AUH
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
20 Feb 2020
Severe Paediatric Disorders v0.10
ATRX
Louise Daugherty Added phenotypes Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580 for gene: ATRX
20 Feb 2020
Severe Paediatric Disorders v0.10
ATP6V1B2
Louise Daugherty Added phenotypes Zimmermann-Laband syndrome 2, 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 for gene: ATP6V1B2
20 Feb 2020
Severe Paediatric Disorders v0.10
ATP6V1B1
Louise Daugherty Added phenotypes Renal tubular acidosis with deafness, 267300 for gene: ATP6V1B1
20 Feb 2020
Severe Paediatric Disorders v0.10
ATP6V1A
Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 3, 618012; Cutis laxa, autosomal recessive, type IID, 617403 for gene: ATP6V1A
20 Feb 2020
Severe Paediatric Disorders v0.10
ATP5D
Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 for gene: ATP5D
20 Feb 2020
Severe Paediatric Disorders v0.10
ATP2A1
Louise Daugherty Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
20 Feb 2020
Severe Paediatric Disorders v0.10
ATP1A1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1
20 Feb 2020
Severe Paediatric Disorders v0.10
ATL1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
20 Feb 2020
Severe Paediatric Disorders v0.10
ASNS
Louise Daugherty Added phenotypes Asparagine synthetase deficiency, 615574 for gene: ASNS
20 Feb 2020
Severe Paediatric Disorders v0.10
ASAH1
Louise Daugherty Added phenotypes Farber lipogranulomatosis, 228000; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 for gene: ASAH1
20 Feb 2020
Severe Paediatric Disorders v0.10
ARX
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX
20 Feb 2020
Severe Paediatric Disorders v0.10
ARV1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 38, 617020 for gene: ARV1
20 Feb 2020
Severe Paediatric Disorders v0.10
ARPC1B
Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
20 Feb 2020
Severe Paediatric Disorders v0.10
ARHGEF9
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
20 Feb 2020
Severe Paediatric Disorders v0.10
ARFGEF2
Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
20 Feb 2020
Severe Paediatric Disorders v0.10
ARCN1
Louise Daugherty Added phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 for gene: ARCN1
20 Feb 2020
Severe Paediatric Disorders v0.10
AR
Louise Daugherty Added phenotypes Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 for gene: AR
20 Feb 2020
Severe Paediatric Disorders v0.10
APTX
Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
20 Feb 2020
Severe Paediatric Disorders v0.10
APOE
Louise Daugherty Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE
20 Feb 2020
Severe Paediatric Disorders v0.10
APOA1
Louise Daugherty Added phenotypes Amyloidosis, 3 or more types, 105200; ApoA-I and apoC-III deficiency, combined, 618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 for gene: APOA1
20 Feb 2020
Severe Paediatric Disorders v0.10
AP3B2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 48, 617276 for gene: AP3B2
20 Feb 2020
Severe Paediatric Disorders v0.10
AP2M1
Louise Daugherty Added phenotypes Intellectual developmental disorder 60 with seizures, 618587 for gene: AP2M1
20 Feb 2020
Severe Paediatric Disorders v0.10
ANOS1
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 for gene: ANOS1
20 Feb 2020
Severe Paediatric Disorders v0.10
ANO5
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260 for gene: ANO5
20 Feb 2020
Severe Paediatric Disorders v0.10
ANKS6
Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
20 Feb 2020
Severe Paediatric Disorders v0.10
ANKRD26
Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
20 Feb 2020
Severe Paediatric Disorders v0.10
AMT
Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: AMT
20 Feb 2020
Severe Paediatric Disorders v0.10
AMER1
Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
20 Feb 2020
Severe Paediatric Disorders v0.10
AMACR
Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
20 Feb 2020
Severe Paediatric Disorders v0.10
ALOXE3
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 3, 606545 for gene: ALOXE3
20 Feb 2020
Severe Paediatric Disorders v0.10
ALOX12B
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 2, 242100 for gene: ALOX12B
20 Feb 2020
Severe Paediatric Disorders v0.10
ALG8
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
20 Feb 2020
Severe Paediatric Disorders v0.10
ALG13
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 36, 300884 for gene: ALG13
20 Feb 2020
Severe Paediatric Disorders v0.10
ALDH6A1
Louise Daugherty Added phenotypes Methylmalonate semialdehyde dehydrogenase deficiency, 614105 for gene: ALDH6A1
20 Feb 2020
Severe Paediatric Disorders v0.10
ALDH1A3
Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
20 Feb 2020
Severe Paediatric Disorders v0.10
ALB
Louise Daugherty Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB
20 Feb 2020
Severe Paediatric Disorders v0.10
ALAS2
Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
20 Feb 2020
Severe Paediatric Disorders v0.10
AKR1D1
Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 2, 235555 for gene: AKR1D1
20 Feb 2020
Severe Paediatric Disorders v0.10
AIRE
Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
20 Feb 2020
Severe Paediatric Disorders v0.10
AICDA
Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 2, 605258 for gene: AICDA
20 Feb 2020
Severe Paediatric Disorders v0.10
AGRN
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
20 Feb 2020
Severe Paediatric Disorders v0.10
ADPRHL2
Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 for gene: ADPRHL2
20 Feb 2020
Severe Paediatric Disorders v0.10
ADK
Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
20 Feb 2020
Severe Paediatric Disorders v0.10
ADGRG6
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
20 Feb 2020
Severe Paediatric Disorders v0.10
ADCY5
Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
20 Feb 2020
Severe Paediatric Disorders v0.10
ADAMTS13
Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
20 Feb 2020
Severe Paediatric Disorders v0.10
ACTL6B
Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
20 Feb 2020
Severe Paediatric Disorders v0.10
ACTG2
Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
20 Feb 2020
Severe Paediatric Disorders v0.10
ACTC1
Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
20 Feb 2020
Severe Paediatric Disorders v0.10
ACTA2
Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
20 Feb 2020
Severe Paediatric Disorders v0.10
ACTA1
Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
20 Feb 2020
Severe Paediatric Disorders v0.10
ACSF3
Louise Daugherty Added phenotypes Combined malonic and methylmalonic aciduria, 614265 for gene: ACSF3
20 Feb 2020
Severe Paediatric Disorders v0.10
ACP5
Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
20 Feb 2020
Severe Paediatric Disorders v0.10
ACAT1
Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
20 Feb 2020
Severe Paediatric Disorders v0.10
ACAN
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
20 Feb 2020
Severe Paediatric Disorders v0.10
ACADSB
Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
20 Feb 2020
Severe Paediatric Disorders v0.10
ABHD12
Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 for gene: ABHD12
20 Feb 2020
Severe Paediatric Disorders v0.10
ABCD4
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
20 Feb 2020
Severe Paediatric Disorders v0.10
ABCD1
Louise Daugherty Added phenotypes Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, 300100 for gene: ABCD1
20 Feb 2020
Severe Paediatric Disorders v0.10
ABCC9
Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
20 Feb 2020
Severe Paediatric Disorders v0.10
ABCC6
Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
20 Feb 2020
Severe Paediatric Disorders v0.10
ABCB7
Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
20 Feb 2020
Severe Paediatric Disorders v0.10
ABCA12
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
20 Feb 2020
Severe Paediatric Disorders v0.10
AARS2
Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
AARS
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAF3IP2
Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
20 Feb 2020
Severe Paediatric Disorders v0.9
SMO
Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
20 Feb 2020
Severe Paediatric Disorders v0.9
RPS15
Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
20 Feb 2020
Severe Paediatric Disorders v0.9
NFAT5
Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
20 Feb 2020
Severe Paediatric Disorders v0.9
MUTYH
Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
20 Feb 2020
Severe Paediatric Disorders v0.9
KIRREL3
Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
20 Feb 2020
Severe Paediatric Disorders v0.9
IL22
Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
20 Feb 2020
Severe Paediatric Disorders v0.9
IL17A
Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
20 Feb 2020
Severe Paediatric Disorders v0.9
TSEN34
Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
20 Feb 2020
Severe Paediatric Disorders v0.9
TPM4
Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
20 Feb 2020
Severe Paediatric Disorders v0.9
SEMA3E
Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
20 Feb 2020
Severe Paediatric Disorders v0.9
REEP2
Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKACG
Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNT2
Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
20 Feb 2020
Severe Paediatric Disorders v0.9
GFI1
Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
20 Feb 2020
Severe Paediatric Disorders v0.9
FRMD4A
Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
20 Feb 2020
Severe Paediatric Disorders v0.9
ATPAF2
Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
20 Feb 2020
Severe Paediatric Disorders v0.9
ZSWIM6
Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
20 Feb 2020
Severe Paediatric Disorders v0.9
ZNF142
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
20 Feb 2020
Severe Paediatric Disorders v0.9
ZMPSTE24
Louise Daugherty Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
20 Feb 2020
Severe Paediatric Disorders v0.9
ZMIZ1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
20 Feb 2020
Severe Paediatric Disorders v0.9
YWHAG
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
20 Feb 2020
Severe Paediatric Disorders v0.9
YARS2
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
XPR1
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
20 Feb 2020
Severe Paediatric Disorders v0.9
XDH
Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
20 Feb 2020
Severe Paediatric Disorders v0.9
WWOX
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
20 Feb 2020
Severe Paediatric Disorders v0.9
WNT7A
Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
20 Feb 2020
Severe Paediatric Disorders v0.9
WNT10B
Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
20 Feb 2020
Severe Paediatric Disorders v0.9
WNT10A
Louise Daugherty Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR81
Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR62
Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR60
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR45B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR45
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR4
Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR35
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR34
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR19
Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR11
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
20 Feb 2020
Severe Paediatric Disorders v0.9
WASF1
Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
20 Feb 2020
Severe Paediatric Disorders v0.9
WAS
Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
20 Feb 2020
Severe Paediatric Disorders v0.9
WARS2
Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
VSX2
Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
20 Feb 2020
Severe Paediatric Disorders v0.9
VPS33B
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
20 Feb 2020
Severe Paediatric Disorders v0.9
VPS13A
Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
20 Feb 2020
Severe Paediatric Disorders v0.9
VMA21
Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
20 Feb 2020
Severe Paediatric Disorders v0.9
VLDLR
Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
20 Feb 2020
Severe Paediatric Disorders v0.9
VIPAS39
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
20 Feb 2020
Severe Paediatric Disorders v0.9
VHL
Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
20 Feb 2020
Severe Paediatric Disorders v0.9
VCP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
20 Feb 2020
Severe Paediatric Disorders v0.9
VARS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
20 Feb 2020
Severe Paediatric Disorders v0.9
VAMP1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
20 Feb 2020
Severe Paediatric Disorders v0.9
USB1
Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
20 Feb 2020
Severe Paediatric Disorders v0.9
UROS
Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
20 Feb 2020
Severe Paediatric Disorders v0.9
UROD
Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
20 Feb 2020
Severe Paediatric Disorders v0.9
UNG
Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
20 Feb 2020
Severe Paediatric Disorders v0.9
UNC93B1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
20 Feb 2020
Severe Paediatric Disorders v0.9
UNC80
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
20 Feb 2020
Severe Paediatric Disorders v0.9
UMOD
Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
20 Feb 2020
Severe Paediatric Disorders v0.9
UFC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
20 Feb 2020
Severe Paediatric Disorders v0.9
UBTF
Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
20 Feb 2020
Severe Paediatric Disorders v0.9
UBA5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
20 Feb 2020
Severe Paediatric Disorders v0.9
TYROBP
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
20 Feb 2020
Severe Paediatric Disorders v0.9
TWNK
Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
20 Feb 2020
Severe Paediatric Disorders v0.9
TWIST1
Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBGCP6
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBGCP4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBG1
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB3
Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB2B
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB2A
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB1
Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB
Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBA8
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
20 Feb 2020
Severe Paediatric Disorders v0.9
TTR
Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
20 Feb 2020
Severe Paediatric Disorders v0.9
TTPA
Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
20 Feb 2020
Severe Paediatric Disorders v0.9
TTN
Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
20 Feb 2020
Severe Paediatric Disorders v0.9
TTC21B
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
20 Feb 2020
Severe Paediatric Disorders v0.9
TSHR
Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
20 Feb 2020
Severe Paediatric Disorders v0.9
TSHB
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
20 Feb 2020
Severe Paediatric Disorders v0.9
TRRAP
Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
20 Feb 2020
Severe Paediatric Disorders v0.9
TRPV6
Louise Daugherty Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
20 Feb 2020
Severe Paediatric Disorders v0.9
TRPV4
Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
20 Feb 2020
Severe Paediatric Disorders v0.9
TRPM4
Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
20 Feb 2020
Severe Paediatric Disorders v0.9
TRNT1
Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
TRIP4
Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
20 Feb 2020
Severe Paediatric Disorders v0.9
TREX1
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
20 Feb 2020
Severe Paediatric Disorders v0.9
TREM2
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAPPC12
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAF7
Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
20 Feb 2020
Severe Paediatric Disorders v0.9
TPO
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
20 Feb 2020
Severe Paediatric Disorders v0.9
TPM3
Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
20 Feb 2020
Severe Paediatric Disorders v0.9
TPM2
Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
20 Feb 2020
Severe Paediatric Disorders v0.9
TPK1
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
20 Feb 2020
Severe Paediatric Disorders v0.9
TOP3A
Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
20 Feb 2020
Severe Paediatric Disorders v0.9
TNNT3
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
20 Feb 2020
Severe Paediatric Disorders v0.9
TNNT1
Louise Daugherty Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
TNNI2
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM94
Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM70
Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM67
Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM43
Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
20 Feb 2020
Severe Paediatric Disorders v0.9
TLR3
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
20 Feb 2020
Severe Paediatric Disorders v0.9
TK2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
20 Feb 2020
Severe Paediatric Disorders v0.9
TIMM50
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
20 Feb 2020
Severe Paediatric Disorders v0.9
TICAM1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
20 Feb 2020
Severe Paediatric Disorders v0.9
TIA1
Louise Daugherty Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
20 Feb 2020
Severe Paediatric Disorders v0.9
THRB
Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
20 Feb 2020
Severe Paediatric Disorders v0.9
THRA
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
20 Feb 2020
Severe Paediatric Disorders v0.9
THPO
Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
20 Feb 2020
Severe Paediatric Disorders v0.9
THOC6
Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
20 Feb 2020
Severe Paediatric Disorders v0.9
THOC2
Louise Daugherty Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
20 Feb 2020
Severe Paediatric Disorders v0.9
THBD
Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
20 Feb 2020
Severe Paediatric Disorders v0.9
THAP1
Louise Daugherty Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
20 Feb 2020
Severe Paediatric Disorders v0.9
TH
Louise Daugherty Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
20 Feb 2020
Severe Paediatric Disorders v0.9
TGM1
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
20 Feb 2020
Severe Paediatric Disorders v0.9
TGFB3
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
20 Feb 2020
Severe Paediatric Disorders v0.9
TGFB1
Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
20 Feb 2020
Severe Paediatric Disorders v0.9
TG
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
20 Feb 2020
Severe Paediatric Disorders v0.9
TFG
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
20 Feb 2020
Severe Paediatric Disorders v0.9
TENM3
Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
20 Feb 2020
Severe Paediatric Disorders v0.9
TCTEX1D2
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
20 Feb 2020
Severe Paediatric Disorders v0.9
TCF4
Louise Daugherty Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
20 Feb 2020
Severe Paediatric Disorders v0.9
TCF20
Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
20 Feb 2020
Severe Paediatric Disorders v0.9
TCAP
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
20 Feb 2020
Severe Paediatric Disorders v0.9
TBX4
Louise Daugherty Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
20 Feb 2020
Severe Paediatric Disorders v0.9
TBX22
Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
20 Feb 2020
Severe Paediatric Disorders v0.9
TBR1
Louise Daugherty Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
20 Feb 2020
Severe Paediatric Disorders v0.9
TBCK
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
20 Feb 2020
Severe Paediatric Disorders v0.9
TBCE
Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
20 Feb 2020
Severe Paediatric Disorders v0.9
TBCD
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
20 Feb 2020
Severe Paediatric Disorders v0.9
TBC1D24
Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
20 Feb 2020
Severe Paediatric Disorders v0.9
TAZ
Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
20 Feb 2020
Severe Paediatric Disorders v0.9
TARDBP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
20 Feb 2020
Severe Paediatric Disorders v0.9
TAPT1
Louise Daugherty Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
20 Feb 2020
Severe Paediatric Disorders v0.9
TANGO2
Louise Daugherty Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
20 Feb 2020
Severe Paediatric Disorders v0.9
SZT2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
20 Feb 2020
Severe Paediatric Disorders v0.9
SYNJ1
Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
20 Feb 2020
Severe Paediatric Disorders v0.9
SYNE1
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
20 Feb 2020
Severe Paediatric Disorders v0.9
SYN1
Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
20 Feb 2020
Severe Paediatric Disorders v0.9
SUZ12
Louise Daugherty Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
20 Feb 2020
Severe Paediatric Disorders v0.9
SURF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
20 Feb 2020
Severe Paediatric Disorders v0.9
SUCLG1
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
20 Feb 2020
Severe Paediatric Disorders v0.9
SUCLA2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
20 Feb 2020
Severe Paediatric Disorders v0.9
STXBP1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
20 Feb 2020
Severe Paediatric Disorders v0.9
STX1B
Louise Daugherty Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
20 Feb 2020
Severe Paediatric Disorders v0.9
STS
Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
20 Feb 2020
Severe Paediatric Disorders v0.9
STRA6
Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM173
Louise Daugherty Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
20 Feb 2020
Severe Paediatric Disorders v0.9
STIM1
Louise Daugherty Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
20 Feb 2020
Severe Paediatric Disorders v0.9
STAT5B
Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
20 Feb 2020
Severe Paediatric Disorders v0.9
STAC3
Louise Daugherty Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
20 Feb 2020
Severe Paediatric Disorders v0.9
ST3GAL3
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
20 Feb 2020
Severe Paediatric Disorders v0.9
SRC
Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
20 Feb 2020
Severe Paediatric Disorders v0.9
SQSTM1
Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTLC2
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTLC1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTBN4
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTAN1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
20 Feb 2020
Severe Paediatric Disorders v0.9
SPPL2A
Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
20 Feb 2020
Severe Paediatric Disorders v0.9
SPINK5
Louise Daugherty Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
20 Feb 2020
Severe Paediatric Disorders v0.9
SPG11
Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
20 Feb 2020
Severe Paediatric Disorders v0.9
SPEG
Louise Daugherty Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
20 Feb 2020
Severe Paediatric Disorders v0.9
SP110
Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX9
Louise Daugherty Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX3
Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX10
Louise Daugherty Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
20 Feb 2020
Severe Paediatric Disorders v0.9
SNORD118
Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
20 Feb 2020
Severe Paediatric Disorders v0.9
SNAP29
Louise Daugherty Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
20 Feb 2020
Severe Paediatric Disorders v0.9
SMOC1
Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
20 Feb 2020
Severe Paediatric Disorders v0.9
SMCHD1
Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
20 Feb 2020
Severe Paediatric Disorders v0.9
SMARCD1
Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLCO2A1
Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC6A9
Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC5A7
Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC5A5
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC4A4
Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC4A11
Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC39A4
Louise Daugherty Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC39A14
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC34A3
Louise Daugherty Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC34A2
Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC30A10
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC2A1
Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC29A3
Louise Daugherty Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC27A4
Louise Daugherty Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC26A4
Louise Daugherty Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A46
Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A42
Louise Daugherty Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A4
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A22
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A19
Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A15
Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A12
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A1
Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC20A2
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC1A4
Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC1A2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC19A3
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC19A2
Louise Daugherty Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC18A3
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC16A1
Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC13A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC12A6
Louise Daugherty Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC12A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC11A2
Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC10A7
Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
20 Feb 2020
Severe Paediatric Disorders v0.9
SIK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
20 Feb 2020
Severe Paediatric Disorders v0.9
SHOX
Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
20 Feb 2020
Severe Paediatric Disorders v0.9
SHOC2
Louise Daugherty Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
20 Feb 2020
Severe Paediatric Disorders v0.9
SHH
Louise Daugherty Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
20 Feb 2020
Severe Paediatric Disorders v0.9
SH3TC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
20 Feb 2020
Severe Paediatric Disorders v0.9
SGCD
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
20 Feb 2020
Severe Paediatric Disorders v0.9
SETX
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
20 Feb 2020
Severe Paediatric Disorders v0.9
SERAC1
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
20 Feb 2020
Severe Paediatric Disorders v0.9
SEPT9
Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
20 Feb 2020
Severe Paediatric Disorders v0.9
SELENON
Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
20 Feb 2020
Severe Paediatric Disorders v0.9
SEC23B
Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
20 Feb 2020
Severe Paediatric Disorders v0.9
SDHD
Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
20 Feb 2020
Severe Paediatric Disorders v0.9
SDHA
Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
20 Feb 2020
Severe Paediatric Disorders v0.9
SCO2
Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
20 Feb 2020
Severe Paediatric Disorders v0.9
SCNN1B
Louise Daugherty Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
20 Feb 2020
Severe Paediatric Disorders v0.9
SCNN1A
Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN9A
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN8A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN4A
Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN3A
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN2A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN1B
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN1A
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN11A
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCARB2
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
20 Feb 2020
Severe Paediatric Disorders v0.9
SC5D
Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
20 Feb 2020
Severe Paediatric Disorders v0.9
SBF2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
20 Feb 2020
Severe Paediatric Disorders v0.9
SBF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
20 Feb 2020
Severe Paediatric Disorders v0.9
RYR2
Louise Daugherty Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
20 Feb 2020
Severe Paediatric Disorders v0.9
RYR1
Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM5
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
20 Feb 2020
Severe Paediatric Disorders v0.9
RUNX2
Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
20 Feb 2020
Severe Paediatric Disorders v0.9
RUNX1
Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
20 Feb 2020
Severe Paediatric Disorders v0.9
RTTN
Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
20 Feb 2020
Severe Paediatric Disorders v0.9
RTN4IP1
Louise Daugherty Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
20 Feb 2020
Severe Paediatric Disorders v0.9
RRM2B
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 for gene: RRM2B
20 Feb 2020
Severe Paediatric Disorders v0.9
RPGR
Louise Daugherty Added phenotypes Retinitis pigmentosa 3, 300029; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 for gene: RPGR
20 Feb 2020
Severe Paediatric Disorders v0.9
RORB
Louise Daugherty Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 for gene: RORB
20 Feb 2020
Severe Paediatric Disorders v0.9
RORA
Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
20 Feb 2020
Severe Paediatric Disorders v0.9
ROBO3
Louise Daugherty Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 for gene: ROBO3
20 Feb 2020
Severe Paediatric Disorders v0.9
RNASET2
Louise Daugherty Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
20 Feb 2020
Severe Paediatric Disorders v0.9
RNASEH1
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 for gene: RNASEH1
20 Feb 2020
Severe Paediatric Disorders v0.9
RMRP
Louise Daugherty Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP
20 Feb 2020
Severe Paediatric Disorders v0.9
RHOBTB2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 64, 618004 for gene: RHOBTB2
20 Feb 2020
Severe Paediatric Disorders v0.9
RETREG1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
20 Feb 2020
Severe Paediatric Disorders v0.9
RERE
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 for gene: RERE
20 Feb 2020
Severe Paediatric Disorders v0.9
REN
Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
20 Feb 2020
Severe Paediatric Disorders v0.9
REEP1
Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
20 Feb 2020
Severe Paediatric Disorders v0.9
RECQL4
Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
20 Feb 2020
Severe Paediatric Disorders v0.9
RBM8A
Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
20 Feb 2020
Severe Paediatric Disorders v0.9
RBCK1
Louise Daugherty Added phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 for gene: RBCK1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAX
Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
20 Feb 2020
Severe Paediatric Disorders v0.9
RARB
Louise Daugherty Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
20 Feb 2020
Severe Paediatric Disorders v0.9
RAPSN
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
20 Feb 2020
Severe Paediatric Disorders v0.9
RAI1
Louise Daugherty Added phenotypes Smith-Magenis syndrome, 182290 for gene: RAI1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAG2
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG2
20 Feb 2020
Severe Paediatric Disorders v0.9
RAG1
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAF1
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAC3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
20 Feb 2020
Severe Paediatric Disorders v0.9
RAB7A
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
20 Feb 2020
Severe Paediatric Disorders v0.9
RAB33B
Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
20 Feb 2020
Severe Paediatric Disorders v0.9
RAB11B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 for gene: RAB11B
20 Feb 2020
Severe Paediatric Disorders v0.9
QRSL1
Louise Daugherty Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
20 Feb 2020
Severe Paediatric Disorders v0.9
PUS7
Louise Daugherty Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
20 Feb 2020
Severe Paediatric Disorders v0.9
PUS1
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 for gene: PUS1
20 Feb 2020
Severe Paediatric Disorders v0.9
PTPN23
Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23
20 Feb 2020
Severe Paediatric Disorders v0.9
PTHLH
Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
20 Feb 2020
Severe Paediatric Disorders v0.9
PTH1R
Louise Daugherty Added phenotypes Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045 for gene: PTH1R
20 Feb 2020
Severe Paediatric Disorders v0.9
PSTPIP1
Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
20 Feb 2020
Severe Paediatric Disorders v0.9
PSEN1
Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
20 Feb 2020
Severe Paediatric Disorders v0.9
PRX
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900 for gene: PRX
20 Feb 2020
Severe Paediatric Disorders v0.9
PRUNE1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 for gene: PRUNE1
20 Feb 2020
Severe Paediatric Disorders v0.9
PRSS56
Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
20 Feb 2020
Severe Paediatric Disorders v0.9
PRRT2
Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
20 Feb 2020
Severe Paediatric Disorders v0.9
PRPS1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
20 Feb 2020
Severe Paediatric Disorders v0.9
PROS1
Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
20 Feb 2020
Severe Paediatric Disorders v0.9
PROKR2
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 for gene: PROKR2
20 Feb 2020
Severe Paediatric Disorders v0.9
PROC
Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
20 Feb 2020
Severe Paediatric Disorders v0.9
PRNP
Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKDC
Louise Daugherty Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 for gene: PRKDC
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKAR1A
Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKAG2
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
20 Feb 2020
Severe Paediatric Disorders v0.9
PRG4
Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
20 Feb 2020
Severe Paediatric Disorders v0.9
PRDM12
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 for gene: PRDM12
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP3CA
Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP2CA
Louise Daugherty Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP1R21
Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP1CB
Louise Daugherty Added phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
20 Feb 2020
Severe Paediatric Disorders v0.9
POR
Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
20 Feb 2020
Severe Paediatric Disorders v0.9
POMT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 for gene: POMT2
20 Feb 2020
Severe Paediatric Disorders v0.9
POMT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 for gene: POMT1
20 Feb 2020
Severe Paediatric Disorders v0.9
POMK
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK
20 Feb 2020
Severe Paediatric Disorders v0.9
POMGNT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2
20 Feb 2020
Severe Paediatric Disorders v0.9
POMGNT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
POLR3B
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
20 Feb 2020
Severe Paediatric Disorders v0.9
POLR3A
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 for gene: POLR3A
20 Feb 2020
Severe Paediatric Disorders v0.9
POLR2A
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A
20 Feb 2020
Severe Paediatric Disorders v0.9
POLG2
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
20 Feb 2020
Severe Paediatric Disorders v0.9
POLG
Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
20 Feb 2020
Severe Paediatric Disorders v0.9
POLA1
Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
20 Feb 2020
Severe Paediatric Disorders v0.9
PMP22
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22
20 Feb 2020
Severe Paediatric Disorders v0.9
PLK4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 for gene: PLK4
20 Feb 2020
Severe Paediatric Disorders v0.9
PLEC
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138 for gene: PLEC
20 Feb 2020
Severe Paediatric Disorders v0.9
PLCB1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 12, 613722 for gene: PLCB1
20 Feb 2020
Severe Paediatric Disorders v0.9
PLAA
Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
20 Feb 2020
Severe Paediatric Disorders v0.9
PLA2G6
Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
20 Feb 2020
Severe Paediatric Disorders v0.9
PLA2G4A
Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
20 Feb 2020
Severe Paediatric Disorders v0.9
PKLR
Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
20 Feb 2020
Severe Paediatric Disorders v0.9
PKHD1
Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
20 Feb 2020
Severe Paediatric Disorders v0.9
PITX1
Louise Daugherty Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800; Liebenberg syndrome, 186550 for gene: PITX1
20 Feb 2020
Severe Paediatric Disorders v0.9
PIK3CA
Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGW
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 for gene: PIGW
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGV
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 for gene: PIGV
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGU
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 for gene: PIGU
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGQ
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 77, 618548 for gene: PIGQ
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGO
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 for gene: PIGO
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGH
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 for gene: PIGH
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGC
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGB
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 80, 618580 for gene: PIGB
20 Feb 2020
Severe Paediatric Disorders v0.9
PIEZO2
Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
20 Feb 2020
Severe Paediatric Disorders v0.9
PIEZO1
Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
20 Feb 2020
Severe Paediatric Disorders v0.9
PHOX2B
Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
20 Feb 2020
Severe Paediatric Disorders v0.9
PHACTR1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 70, 618298 for gene: PHACTR1
20 Feb 2020
Severe Paediatric Disorders v0.9
PGAP3
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 for gene: PGAP3
20 Feb 2020
Severe Paediatric Disorders v0.9
PGAP2
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 for gene: PGAP2
20 Feb 2020
Severe Paediatric Disorders v0.9
PDGFRB
Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
20 Feb 2020
Severe Paediatric Disorders v0.9
PDGFB
Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
20 Feb 2020
Severe Paediatric Disorders v0.9
PDE4D
Louise Daugherty Added phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 for gene: PDE4D
20 Feb 2020
Severe Paediatric Disorders v0.9
PCYT1A
Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
20 Feb 2020
Severe Paediatric Disorders v0.9
PCDH19
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
20 Feb 2020
Severe Paediatric Disorders v0.9
PBX1
Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
20 Feb 2020
Severe Paediatric Disorders v0.9
PAX9
Louise Daugherty Added phenotypes Tooth agenesis, selective, 3, 604625 for gene: PAX9
20 Feb 2020
Severe Paediatric Disorders v0.9
PAX8
Louise Daugherty Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 for gene: PAX8
20 Feb 2020
Severe Paediatric Disorders v0.9
PAX6
Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
20 Feb 2020
Severe Paediatric Disorders v0.9
PARS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 75, 618437 for gene: PARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
PAPSS2
Louise Daugherty Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 for gene: PAPSS2
20 Feb 2020
Severe Paediatric Disorders v0.9
PAPPA2
Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
20 Feb 2020
Severe Paediatric Disorders v0.9
PANK2
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
20 Feb 2020
Severe Paediatric Disorders v0.9
PACS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 66, 618067 for gene: PACS2
20 Feb 2020
Severe Paediatric Disorders v0.9
OTX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
20 Feb 2020
Severe Paediatric Disorders v0.9
OTUD6B
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
20 Feb 2020
Severe Paediatric Disorders v0.9
OTOF
Louise Daugherty Added phenotypes Deafness, autosomal recessive 9, 601071; Auditory neuropathy, autosomal recessive, 1, 601071 for gene: OTOF
20 Feb 2020
Severe Paediatric Disorders v0.9
OTC
Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
20 Feb 2020
Severe Paediatric Disorders v0.9
ORAI1
Louise Daugherty Added phenotypes Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883 for gene: ORAI1
20 Feb 2020
Severe Paediatric Disorders v0.9
OPHN1
Louise Daugherty Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
20 Feb 2020
Severe Paediatric Disorders v0.9
OPA3
Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
20 Feb 2020
Severe Paediatric Disorders v0.9
OPA1
Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
20 Feb 2020
Severe Paediatric Disorders v0.9
OAT
Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
20 Feb 2020
Severe Paediatric Disorders v0.9
NUS1
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
20 Feb 2020
Severe Paediatric Disorders v0.9
NTRK2
Louise Daugherty Added phenotypes Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830 for gene: NTRK2
20 Feb 2020
Severe Paediatric Disorders v0.9
NTRK1
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 for gene: NTRK1
20 Feb 2020
Severe Paediatric Disorders v0.9
NPRL3
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 3, 617118 for gene: NPRL3
20 Feb 2020
Severe Paediatric Disorders v0.9
NPR2
Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2
20 Feb 2020
Severe Paediatric Disorders v0.9
NPHP4
Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
20 Feb 2020
Severe Paediatric Disorders v0.9
NPHP3
Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
20 Feb 2020
Severe Paediatric Disorders v0.9
NPHP1
Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
20 Feb 2020
Severe Paediatric Disorders v0.9
NOTCH3
Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
20 Feb 2020
Severe Paediatric Disorders v0.9
NOG
Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
20 Feb 2020
Severe Paediatric Disorders v0.9
NLRP3
Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
20 Feb 2020
Severe Paediatric Disorders v0.9
NLRC4
Louise Daugherty Added phenotypes Autoinflammation with infantile enterocolitis, 616050; ?Familial cold autoinflammatory syndrome 4, 616115 for gene: NLRC4
20 Feb 2020
Severe Paediatric Disorders v0.9
NKX6-2
Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
20 Feb 2020
Severe Paediatric Disorders v0.9
NKX2-5
Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5
20 Feb 2020
Severe Paediatric Disorders v0.9
NKX2-1
Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
20 Feb 2020
Severe Paediatric Disorders v0.9
NIPAL4
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 for gene: NIPAL4
20 Feb 2020
Severe Paediatric Disorders v0.9
NHEJ1
Louise Daugherty Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 for gene: NHEJ1
20 Feb 2020
Severe Paediatric Disorders v0.9
NFIX
Louise Daugherty Added phenotypes Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535 for gene: NFIX
20 Feb 2020
Severe Paediatric Disorders v0.9
NFIA
Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
20 Feb 2020
Severe Paediatric Disorders v0.9
NFASC
Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
20 Feb 2020
Severe Paediatric Disorders v0.9
NEK8
Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
20 Feb 2020
Severe Paediatric Disorders v0.9
NEK1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
20 Feb 2020
Severe Paediatric Disorders v0.9
NEFL
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL
20 Feb 2020
Severe Paediatric Disorders v0.9
NEFH
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 for gene: NEFH
20 Feb 2020
Severe Paediatric Disorders v0.9
NEB
Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
20 Feb 2020
Severe Paediatric Disorders v0.9
NDUFB11
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
20 Feb 2020
Severe Paediatric Disorders v0.9
NDRG1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 for gene: NDRG1
20 Feb 2020
Severe Paediatric Disorders v0.9
NDP
Louise Daugherty Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
20 Feb 2020
Severe Paediatric Disorders v0.9
NDE1
Louise Daugherty Added phenotypes Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013 for gene: NDE1
20 Feb 2020
Severe Paediatric Disorders v0.9
NAXE
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 for gene: NAXE
20 Feb 2020
Severe Paediatric Disorders v0.9
NALCN
Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
20 Feb 2020
Severe Paediatric Disorders v0.9
NAGS
Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
20 Feb 2020
Severe Paediatric Disorders v0.9
NAGLU
Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU
20 Feb 2020
Severe Paediatric Disorders v0.9
NACC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 for gene: NACC1
20 Feb 2020
Severe Paediatric Disorders v0.9
NAA10
Louise Daugherty Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10
20 Feb 2020
Severe Paediatric Disorders v0.9
MYRF
Louise Daugherty Added phenotypes Cardiac-urogenital syndrome, 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 for gene: MYRF
20 Feb 2020
Severe Paediatric Disorders v0.9
MYOT
Louise Daugherty Added phenotypes Myopathy, spheroid body, 182920; Myopathy, myofibrillar, 3, 609200 for gene: MYOT
20 Feb 2020
Severe Paediatric Disorders v0.9
MYO6
Louise Daugherty Added phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346; Deafness, autosomal dominant 22, 606346; Deafness, autosomal recessive 37, 607821 for gene: MYO6
20 Feb 2020
Severe Paediatric Disorders v0.9
MYO18B
Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
20 Feb 2020
Severe Paediatric Disorders v0.9
MYL1
Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH9
Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH7
Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH6
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH3
Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH2
Louise Daugherty Added phenotypes Proximal myopathy and ophthalmoplegia, 605637 for gene: MYH2
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH14
Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
20 Feb 2020
Severe Paediatric Disorders v0.9
MYBPC1
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
20 Feb 2020
Severe Paediatric Disorders v0.9
MUSK
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
20 Feb 2020
Severe Paediatric Disorders v0.9
MTOR
Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
20 Feb 2020
Severe Paediatric Disorders v0.9
MTMR2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
20 Feb 2020
Severe Paediatric Disorders v0.9
MTM1
Louise Daugherty Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
20 Feb 2020
Severe Paediatric Disorders v0.9
MTHFR
Louise Daugherty Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
20 Feb 2020
Severe Paediatric Disorders v0.9
MTHFD1
Louise Daugherty Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TY
Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TW
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TW
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TV
Louise Daugherty Added phenotypes ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS; NEONATAL DEATH for gene: MT-TV
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TS1
Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TR
Louise Daugherty Added phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TR
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TQ
Louise Daugherty Added phenotypes MYOPATHY; SENSORINEURAL DEAFNESS AND MIGRAINE; MELAS SYNDROME for gene: MT-TQ
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TP
Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TN
Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TM
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL for gene: MT-TM
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TL2
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL; CARDIOMYOPATHY, MITOCHONDRIAL for gene: MT-TL2
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TK
Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TI
Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TH
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TG
Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TF
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TE
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TE
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TD
Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TA
Louise Daugherty Added phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY; MITOCHONDRIAL MYOPATHY for gene: MT-TA
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-RNR1
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-ND6
Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-CYB
Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-CO1
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-ATP8
Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
20 Feb 2020
Severe Paediatric Disorders v0.9
MSX2
Louise Daugherty Added phenotypes Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500 for gene: MSX2
20 Feb 2020
Severe Paediatric Disorders v0.9
MSX1
Louise Daugherty Added phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874 for gene: MSX1
20 Feb 2020
Severe Paediatric Disorders v0.9
MSTO1
Louise Daugherty Added phenotypes Myopathy, mitochondrial, and ataxia, 617675 for gene: MSTO1
20 Feb 2020
Severe Paediatric Disorders v0.9
MPZ
Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ
20 Feb 2020
Severe Paediatric Disorders v0.9
MPV17
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
20 Feb 2020
Severe Paediatric Disorders v0.9
MPLKIP
Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
20 Feb 2020
Severe Paediatric Disorders v0.9
MPL
Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
20 Feb 2020
Severe Paediatric Disorders v0.9
MPIG6B
Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
20 Feb 2020
Severe Paediatric Disorders v0.9
MORC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 for gene: MORC2
20 Feb 2020
Severe Paediatric Disorders v0.9
MUT
Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
20 Feb 2020
Severe Paediatric Disorders v0.9
MMP2
Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
20 Feb 2020
Severe Paediatric Disorders v0.9
MMADHC
Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
20 Feb 2020
Severe Paediatric Disorders v0.9
MMACHC
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
20 Feb 2020
Severe Paediatric Disorders v0.9
MMAB
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
20 Feb 2020
Severe Paediatric Disorders v0.9
MMAA
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 for gene: MMAA
20 Feb 2020
Severe Paediatric Disorders v0.9
MLC1
Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
20 Feb 2020
Severe Paediatric Disorders v0.9
MICU1
Louise Daugherty Added phenotypes Myopathy with extrapyramidal signs, 615673 for gene: MICU1
20 Feb 2020
Severe Paediatric Disorders v0.9
MFSD8
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170 for gene: MFSD8
20 Feb 2020
Severe Paediatric Disorders v0.9
MFRP
Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
20 Feb 2020
Severe Paediatric Disorders v0.9
MFN2
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2
20 Feb 2020
Severe Paediatric Disorders v0.9
MFF
Louise Daugherty Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF
20 Feb 2020
Severe Paediatric Disorders v0.9
MEGF10
Louise Daugherty Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 for gene: MEGF10
20 Feb 2020
Severe Paediatric Disorders v0.9
MED17
Louise Daugherty Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 for gene: MED17
20 Feb 2020
Severe Paediatric Disorders v0.9
MED13L
Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L
20 Feb 2020
Severe Paediatric Disorders v0.9
MECR
Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
20 Feb 2020
Severe Paediatric Disorders v0.9
MECP2
Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
20 Feb 2020
Severe Paediatric Disorders v0.9
MECOM
Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
20 Feb 2020
Severe Paediatric Disorders v0.9
MDH2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 51, 617339 for gene: MDH2
20 Feb 2020
Severe Paediatric Disorders v0.9
MCM3AP
Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
20 Feb 2020
Severe Paediatric Disorders v0.9
MCEE
Louise Daugherty Added phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 for gene: MCEE
20 Feb 2020
Severe Paediatric Disorders v0.9
MCCC2
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 for gene: MCCC2
20 Feb 2020
Severe Paediatric Disorders v0.9
MCCC1
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 for gene: MCCC1
20 Feb 2020
Severe Paediatric Disorders v0.9
MC2R
Louise Daugherty Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 for gene: MC2R
20 Feb 2020
Severe Paediatric Disorders v0.9
MBTPS2
Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
20 Feb 2020
Severe Paediatric Disorders v0.9
MAT1A
Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
20 Feb 2020
Severe Paediatric Disorders v0.9
MAST1
Louise Daugherty Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 for gene: MAST1
20 Feb 2020
Severe Paediatric Disorders v0.9
MAPT
Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
20 Feb 2020
Severe Paediatric Disorders v0.9
MAPKBP1
Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
20 Feb 2020
Severe Paediatric Disorders v0.9
MAPK8IP3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, 618443 for gene: MAPK8IP3
20 Feb 2020
Severe Paediatric Disorders v0.9
MAP3K20
Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
20 Feb 2020
Severe Paediatric Disorders v0.9
MAGT1
Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
20 Feb 2020
Severe Paediatric Disorders v0.9
MACF1
Louise Daugherty Added phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 for gene: MACF1
20 Feb 2020
Severe Paediatric Disorders v0.9
MAB21L2
Louise Daugherty Added phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 for gene: MAB21L2
20 Feb 2020
Severe Paediatric Disorders v0.9
LTBP2
Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
20 Feb 2020
Severe Paediatric Disorders v0.9
LRSAM1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, 614436 for gene: LRSAM1
20 Feb 2020
Severe Paediatric Disorders v0.9
LRP5
Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
20 Feb 2020
Severe Paediatric Disorders v0.9
LRP4
Louise Daugherty Added phenotypes Cenani-Lenz syndactyly syndrome, 212780; ?Myasthenic syndrome, congenital, 17, 616304; Sclerosteosis 2, 614305 for gene: LRP4
20 Feb 2020
Severe Paediatric Disorders v0.9
LRBA
Louise Daugherty Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 for gene: LRBA
20 Feb 2020
Severe Paediatric Disorders v0.9
LNPK
Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 for gene: LNPK
20 Feb 2020
Severe Paediatric Disorders v0.9
LMOD3
Louise Daugherty Added phenotypes Nemaline myopathy 10, 616165 for gene: LMOD3
20 Feb 2020
Severe Paediatric Disorders v0.9
LMNA
Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
20 Feb 2020
Severe Paediatric Disorders v0.9
LMBRD1
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
20 Feb 2020
Severe Paediatric Disorders v0.9
LMBR1
Louise Daugherty Added phenotypes Syndactyly, type IV, 186200; Hypoplastic or aplastic tibia with polydactyly, 188740; Triphalangeal thumb, type I, 174500; Triphalangeal thumb-polysyndactyly syndrome, 174500; Polydactyly, preaxial type II, 174500; Laurin-Sandrow syndrome, 135750; Acheiropody, 200500 for gene: LMBR1
20 Feb 2020
Severe Paediatric Disorders v0.9
LITAF
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 for gene: LITAF
20 Feb 2020
Severe Paediatric Disorders v0.9
LIPT2
Louise Daugherty Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
20 Feb 2020
Severe Paediatric Disorders v0.9
LGI4
Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
20 Feb 2020
Severe Paediatric Disorders v0.9
LEMD3
Louise Daugherty Added phenotypes Buschke-Ollendorff syndrome, 166700; Osteopoikilosis with or without melorheostosis, 166700 for gene: LEMD3
20 Feb 2020
Severe Paediatric Disorders v0.9
LDB3
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
20 Feb 2020
Severe Paediatric Disorders v0.9
LBR
Louise Daugherty Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies, 618019; Pelger-Huet anomaly, 169400; ?Reynolds syndrome, 613471; Greenberg skeletal dysplasia, 215140 for gene: LBR
20 Feb 2020
Severe Paediatric Disorders v0.9
LARGE1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 for gene: LARGE1
20 Feb 2020
Severe Paediatric Disorders v0.9
LAMB2
Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
20 Feb 2020
Severe Paediatric Disorders v0.9
L1CAM
Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
20 Feb 2020
Severe Paediatric Disorders v0.9
KRT14
Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
20 Feb 2020
Severe Paediatric Disorders v0.9
KRIT1
Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1
20 Feb 2020
Severe Paediatric Disorders v0.9
KLHL41
Louise Daugherty Added phenotypes Nemaline myopathy 9, 615731 for gene: KLHL41
20 Feb 2020
Severe Paediatric Disorders v0.9
KLHL40
Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
20 Feb 2020
Severe Paediatric Disorders v0.9
KLF1
Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF7
Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF5C
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF2A
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF23
Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF22
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF1A
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF11
Louise Daugherty Added phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 for gene: KIF11
20 Feb 2020
Severe Paediatric Disorders v0.9
KIAA0586
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
20 Feb 2020
Severe Paediatric Disorders v0.9
KDSR
Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
20 Feb 2020
Severe Paediatric Disorders v0.9
KCTD7
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
20 Feb 2020
Severe Paediatric Disorders v0.9
KCTD3
Louise Daugherty Added phenotypes Developmental epileptic encephalopathy for gene: KCTD3
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNT1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 14, 614959; Epilepsy, nocturnal frontal lobe, 5, 615005 for gene: KCNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNQ2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 for gene: KCNQ2
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNMA1
Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNK4
Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNJ11
Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNB1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 26, 616056 for gene: KCNB1
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNA2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 32, 616366 for gene: KCNA2
20 Feb 2020
Severe Paediatric Disorders v0.9
KBTBD13
Louise Daugherty Added phenotypes Nemaline myopathy 6, autosomal dominant, 609273 for gene: KBTBD13
20 Feb 2020
Severe Paediatric Disorders v0.9
KATNB1
Louise Daugherty Added phenotypes Lissencephaly 6, with microcephaly, 616212 for gene: KATNB1
20 Feb 2020
Severe Paediatric Disorders v0.9
KARS
Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
20 Feb 2020
Severe Paediatric Disorders v0.9
JUP
Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 12, 611528; Naxos disease, 601214 for gene: JUP
20 Feb 2020
Severe Paediatric Disorders v0.9
JPH2
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 17, 613873 for gene: JPH2
20 Feb 2020
Severe Paediatric Disorders v0.9
JAM3
Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
20 Feb 2020
Severe Paediatric Disorders v0.9
ITPA
Louise Daugherty Added phenotypes [Inosine triphosphatase deficiency], 613850; Epileptic encephalopathy, early infantile, 35, 616647 for gene: ITPA
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGB4
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGB3
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGA6
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGA2B
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
20 Feb 2020
Severe Paediatric Disorders v0.9
ITCH
Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
20 Feb 2020
Severe Paediatric Disorders v0.9
ISCU
Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
20 Feb 2020
Severe Paediatric Disorders v0.9
IRF2BPL
Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
20 Feb 2020
Severe Paediatric Disorders v0.9
INVS
Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
20 Feb 2020
Severe Paediatric Disorders v0.9
INTU
Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
20 Feb 2020
Severe Paediatric Disorders v0.9
INTS1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
20 Feb 2020
Severe Paediatric Disorders v0.9
INSR
Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
20 Feb 2020
Severe Paediatric Disorders v0.9
INPP5K
Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K
20 Feb 2020
Severe Paediatric Disorders v0.9
INF2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
20 Feb 2020
Severe Paediatric Disorders v0.9
IMPAD1
Louise Daugherty Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 for gene: IMPAD1
20 Feb 2020
Severe Paediatric Disorders v0.9
IL2RA
Louise Daugherty Added phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 for gene: IL2RA
20 Feb 2020
Severe Paediatric Disorders v0.9
IGSF1
Louise Daugherty Added phenotypes Hypothyroidism, central, and testicular enlargement, 300888 for gene: IGSF1
20 Feb 2020
Severe Paediatric Disorders v0.9
IGHMBP2
Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 for gene: IGHMBP2
20 Feb 2020
Severe Paediatric Disorders v0.9
IGF2
Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
20 Feb 2020
Severe Paediatric Disorders v0.9
IGF1R
Louise Daugherty Added phenotypes Insulin-like growth factor I, resistance to, 270450 for gene: IGF1R
20 Feb 2020
Severe Paediatric Disorders v0.9
IGF1
Louise Daugherty Added phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 for gene: IGF1
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT81
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT80
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT52
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT43
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT172
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT140
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
20 Feb 2020
Severe Paediatric Disorders v0.9
IARS2
Louise Daugherty Added phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 for gene: IARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
IARS
Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
20 Feb 2020
Severe Paediatric Disorders v0.9
HYLS1
Louise Daugherty Added phenotypes Hydrolethalus syndrome, 236680 for gene: HYLS1
20 Feb 2020
Severe Paediatric Disorders v0.9
HTRA2
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
20 Feb 2020
Severe Paediatric Disorders v0.9
HTRA1
Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
20 Feb 2020
Severe Paediatric Disorders v0.9
HSPB8
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8
20 Feb 2020
Severe Paediatric Disorders v0.9
HSPB1
Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot-Marie-Tooth disease, axonal, type 2F, 606595 for gene: HSPB1
20 Feb 2020
Severe Paediatric Disorders v0.9
HSD3B7
Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 1, 607765 for gene: HSD3B7
20 Feb 2020
Severe Paediatric Disorders v0.9
HSD17B3
Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
20 Feb 2020
Severe Paediatric Disorders v0.9
HRAS
Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
20 Feb 2020
Severe Paediatric Disorders v0.9
HR
Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
20 Feb 2020
Severe Paediatric Disorders v0.9
HPGD
Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
20 Feb 2020
Severe Paediatric Disorders v0.9
HOXA11
Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
20 Feb 2020
Severe Paediatric Disorders v0.9
HOXA1
Louise Daugherty Added phenotypes Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536 for gene: HOXA1
20 Feb 2020
Severe Paediatric Disorders v0.9
HNRNPU
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 54, 617391 for gene: HNRNPU
20 Feb 2020
Severe Paediatric Disorders v0.9
HNF4A
Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
20 Feb 2020
Severe Paediatric Disorders v0.9
HMGCS2
Louise Daugherty Added phenotypes HMG-CoA synthase-2 deficiency, 605911 for gene: HMGCS2
20 Feb 2020
Severe Paediatric Disorders v0.9
HMBS
Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
20 Feb 2020
Severe Paediatric Disorders v0.9
HLCS
Louise Daugherty Added phenotypes Holocarboxylase synthetase deficiency, 253270 for gene: HLCS
20 Feb 2020
Severe Paediatric Disorders v0.9
HK1
Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1
20 Feb 2020
Severe Paediatric Disorders v0.9
HINT1
Louise Daugherty Added phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 for gene: HINT1
20 Feb 2020
Severe Paediatric Disorders v0.9
HESX1
Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 5, 182230; Growth hormone deficiency with pituitary anomalies, 182230; Septooptic dysplasia, 182230 for gene: HESX1
20 Feb 2020
Severe Paediatric Disorders v0.9
HEPACAM
Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
20 Feb 2020
Severe Paediatric Disorders v0.9
HECW2
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 for gene: HECW2
20 Feb 2020
Severe Paediatric Disorders v0.9
HCN1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 24, 615871; Generalized epilepsy with febrile seizures plus, type 10, 618482 for gene: HCN1
20 Feb 2020
Severe Paediatric Disorders v0.9
HCFC1
Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
20 Feb 2020
Severe Paediatric Disorders v0.9
HCCS
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
20 Feb 2020
Severe Paediatric Disorders v0.9
HBB
Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
20 Feb 2020
Severe Paediatric Disorders v0.9
HBA2
Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
20 Feb 2020
Severe Paediatric Disorders v0.9
HBA1
Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
20 Feb 2020
Severe Paediatric Disorders v0.9
HACE1
Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
20 Feb 2020
Severe Paediatric Disorders v0.9
H19
Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
20 Feb 2020
Severe Paediatric Disorders v0.9
GYG1
Louise Daugherty Added phenotypes Polyglucosan body myopathy 2, 616199; ?Glycogen storage disease XV, 613507 for gene: GYG1
20 Feb 2020
Severe Paediatric Disorders v0.9
GTF2H5
Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
20 Feb 2020
Severe Paediatric Disorders v0.9
GSS
Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130 for gene: GSS
20 Feb 2020
Severe Paediatric Disorders v0.9
GRN
Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN2D
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 46, 617162 for gene: GRIN2D
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN2B
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 27, 616139; Mental retardation, autosomal dominant 6, 613970 for gene: GRIN2B
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN2A
Louise Daugherty Added phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 for gene: GRIN2A
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIA4
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 for gene: GRIA4
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIA2
Louise Daugherty Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2
20 Feb 2020
Severe Paediatric Disorders v0.9
GPAA1
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GNMT
Louise Daugherty Added phenotypes Glycine N-methyltransferase deficiency, 606664 for gene: GNMT
20 Feb 2020
Severe Paediatric Disorders v0.9
GNE
Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
20 Feb 2020
Severe Paediatric Disorders v0.9
GNB5
Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 for gene: GNB5
20 Feb 2020
Severe Paediatric Disorders v0.9
GNAS
Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS
20 Feb 2020
Severe Paediatric Disorders v0.9
GNAO1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 17, 615473; Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
20 Feb 2020
Severe Paediatric Disorders v0.9
GMPPB
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB
20 Feb 2020
Severe Paediatric Disorders v0.9
GLRX5
Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
20 Feb 2020
Severe Paediatric Disorders v0.9
GLIS3
Louise Daugherty Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 for gene: GLIS3
20 Feb 2020
Severe Paediatric Disorders v0.9
GLE1
Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
20 Feb 2020
Severe Paediatric Disorders v0.9
GLDN
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
20 Feb 2020
Severe Paediatric Disorders v0.9
GLDC
Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: GLDC
20 Feb 2020
Severe Paediatric Disorders v0.9
GJB3
Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
20 Feb 2020
Severe Paediatric Disorders v0.9
GJB2
Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
20 Feb 2020
Severe Paediatric Disorders v0.9
GJB1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
20 Feb 2020
Severe Paediatric Disorders v0.9
GJA1
Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GHRHR
Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
20 Feb 2020
Severe Paediatric Disorders v0.9
GHR
Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
20 Feb 2020
Severe Paediatric Disorders v0.9
GH1
Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
20 Feb 2020
Severe Paediatric Disorders v0.9
GGCX
Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
20 Feb 2020
Severe Paediatric Disorders v0.9
GFPT1
Louise Daugherty Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
20 Feb 2020
Severe Paediatric Disorders v0.9
GFER
Louise Daugherty Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 for gene: GFER
20 Feb 2020
Severe Paediatric Disorders v0.9
GDF6
Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
20 Feb 2020
Severe Paediatric Disorders v0.9
GDF5
Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
20 Feb 2020
Severe Paediatric Disorders v0.9
GDAP1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1
20 Feb 2020
Severe Paediatric Disorders v0.9
GCLC
Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 for gene: GCLC
20 Feb 2020
Severe Paediatric Disorders v0.9
GCH1
Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
20 Feb 2020
Severe Paediatric Disorders v0.9
GBA
Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
20 Feb 2020
Severe Paediatric Disorders v0.9
GATA4
Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
20 Feb 2020
Severe Paediatric Disorders v0.9
GATA3
Louise Daugherty Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
20 Feb 2020
Severe Paediatric Disorders v0.9
GATA1
Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GARS
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS
20 Feb 2020
Severe Paediatric Disorders v0.9
GAN
Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
20 Feb 2020
Severe Paediatric Disorders v0.9
GALK1
Louise Daugherty Added phenotypes Galactokinase deficiency with cataracts, 230200 for gene: GALK1
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRG2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 74, 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681; Febrile seizures, familial, 8, 607681 for gene: GABRG2
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRB3
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 43, 617113 for gene: GABRB3
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRB2
Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 for gene: GABRB2
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRA2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 78, 618557 for gene: GABRA2
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRA1
Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GABBR2
Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
20 Feb 2020
Severe Paediatric Disorders v0.9
FYB1
Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
20 Feb 2020
Severe Paediatric Disorders v0.9
FXN
Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
20 Feb 2020
Severe Paediatric Disorders v0.9
FUT8
Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
20 Feb 2020
Severe Paediatric Disorders v0.9
FTL
Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
20 Feb 2020
Severe Paediatric Disorders v0.9
FRRS1L
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
20 Feb 2020
Severe Paediatric Disorders v0.9
FREM2
Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
20 Feb 2020
Severe Paediatric Disorders v0.9
FREM1
Louise Daugherty Added phenotypes Trigonocephaly 2, 614485; Manitoba oculotrichoanal syndrome, 248450; Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXP3
Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXP1
Louise Daugherty Added phenotypes Mental retardation with language impairment and with or without autistic features, 613670 for gene: FOXP1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXF1
Louise Daugherty Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 for gene: FOXF1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXE1
Louise Daugherty Added phenotypes Bamforth-Lazarus syndrome, 241850 for gene: FOXE1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXC2
Louise Daugherty Added phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400 for gene: FOXC2
20 Feb 2020
Severe Paediatric Disorders v0.9
FN1
Louise Daugherty Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1
20 Feb 2020
Severe Paediatric Disorders v0.9
FMO3
Louise Daugherty Added phenotypes Trimethylaminuria, 602079 for gene: FMO3
20 Feb 2020
Severe Paediatric Disorders v0.9
FLVCR2
Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
20 Feb 2020
Severe Paediatric Disorders v0.9
FLVCR1
Louise Daugherty Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
20 Feb 2020
Severe Paediatric Disorders v0.9
FLNC
Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC
20 Feb 2020
Severe Paediatric Disorders v0.9
FLCN
Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
20 Feb 2020
Severe Paediatric Disorders v0.9
FLAD1
Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
20 Feb 2020
Severe Paediatric Disorders v0.9
FKTN
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
20 Feb 2020
Severe Paediatric Disorders v0.9
FKRP
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 for gene: FKRP
20 Feb 2020
Severe Paediatric Disorders v0.9
FIG4
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
20 Feb 2020
Severe Paediatric Disorders v0.9
FHL1
Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
20 Feb 2020
Severe Paediatric Disorders v0.9
FGFR3
Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
20 Feb 2020
Severe Paediatric Disorders v0.9
FGFR2
Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
20 Feb 2020
Severe Paediatric Disorders v0.9
FGFR1
Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
20 Feb 2020
Severe Paediatric Disorders v0.9
FGF8
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
20 Feb 2020
Severe Paediatric Disorders v0.9
FGF3
Louise Daugherty Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 for gene: FGF3
20 Feb 2020
Severe Paediatric Disorders v0.9
FGF12
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
20 Feb 2020
Severe Paediatric Disorders v0.9
FGD4
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 for gene: FGD4
20 Feb 2020
Severe Paediatric Disorders v0.9
FECH
Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
20 Feb 2020
Severe Paediatric Disorders v0.9
FDXR
Louise Daugherty Added phenotypes Auditory neuropathy and optic atrophy, 617717 for gene: FDXR
20 Feb 2020
Severe Paediatric Disorders v0.9
FDX2
Louise Daugherty Added phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 for gene: FDX2
20 Feb 2020
Severe Paediatric Disorders v0.9
FBXO11
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
20 Feb 2020
Severe Paediatric Disorders v0.9
FBXL4
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
20 Feb 2020
Severe Paediatric Disorders v0.9
FBXL3
Louise Daugherty Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3
20 Feb 2020
Severe Paediatric Disorders v0.9
FBLN5
Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
20 Feb 2020
Severe Paediatric Disorders v0.9
FAM111B
Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
20 Feb 2020
Severe Paediatric Disorders v0.9
FADD
Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
20 Feb 2020
Severe Paediatric Disorders v0.9
F9
Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
20 Feb 2020
Severe Paediatric Disorders v0.9
F2
Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
20 Feb 2020
Severe Paediatric Disorders v0.9
EYA4
Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
20 Feb 2020
Severe Paediatric Disorders v0.9
EYA1
Louise Daugherty Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
20 Feb 2020
Severe Paediatric Disorders v0.9
EXTL3
Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
20 Feb 2020
Severe Paediatric Disorders v0.9
ETV6
Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
20 Feb 2020
Severe Paediatric Disorders v0.9
ETHE1
Louise Daugherty Added phenotypes Ethylmalonic encephalopathy, 602473 for gene: ETHE1
20 Feb 2020
Severe Paediatric Disorders v0.9
ERCC3
Louise Daugherty Added phenotypes Trichothiodystrophy 2, photosensitive, 616390; Xeroderma pigmentosum, group B, 610651 for gene: ERCC3
20 Feb 2020
Severe Paediatric Disorders v0.9
ERCC2
Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2
20 Feb 2020
Severe Paediatric Disorders v0.9
ELOVL4
Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
20 Feb 2020
Severe Paediatric Disorders v0.9
EIF4A3
Louise Daugherty Added phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 for gene: EIF4A3
20 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B5
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
20 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B4
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
20 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B3
Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
20 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B2
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
20 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B1
Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
20 Feb 2020
Severe Paediatric Disorders v0.9
EGR2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1D, 607678; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 1, 605253 for gene: EGR2
20 Feb 2020
Severe Paediatric Disorders v0.9
EEF1A2
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 38, 616393; Epileptic encephalopathy, early infantile, 33, 616409 for gene: EEF1A2
20 Feb 2020
Severe Paediatric Disorders v0.9
EDNRA
Louise Daugherty Added phenotypes Mandibulofacial dysostosis with alopecia, 616367 for gene: EDNRA
20 Feb 2020
Severe Paediatric Disorders v0.9
EDARADD
Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
20 Feb 2020
Severe Paediatric Disorders v0.9
EDAR
Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
20 Feb 2020
Severe Paediatric Disorders v0.9
EDA
Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
20 Feb 2020
Severe Paediatric Disorders v0.9
ECEL1
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
20 Feb 2020
Severe Paediatric Disorders v0.9
DYSF
Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
20 Feb 2020
Severe Paediatric Disorders v0.9
DYNC2LI1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
20 Feb 2020
Severe Paediatric Disorders v0.9
DYNC2H1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
20 Feb 2020
Severe Paediatric Disorders v0.9
DYNC1H1
Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1
20 Feb 2020
Severe Paediatric Disorders v0.9
DYM
Louise Daugherty Added phenotypes Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326 for gene: DYM
20 Feb 2020
Severe Paediatric Disorders v0.9
DUOX2
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
20 Feb 2020
Severe Paediatric Disorders v0.9
DSPP
Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
20 Feb 2020
Severe Paediatric Disorders v0.9
DSP
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
20 Feb 2020
Severe Paediatric Disorders v0.9
DPM3
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
20 Feb 2020
Severe Paediatric Disorders v0.9
DPH1
Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
20 Feb 2020
Severe Paediatric Disorders v0.9
DPAGT1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
20 Feb 2020
Severe Paediatric Disorders v0.9
DOK7
Louise Daugherty Added phenotypes ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 for gene: DOK7
20 Feb 2020
Severe Paediatric Disorders v0.9
DOCK7
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 23, 615859 for gene: DOCK7
20 Feb 2020
Severe Paediatric Disorders v0.9
DOCK3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
20 Feb 2020
Severe Paediatric Disorders v0.9
DNMT1
Louise Daugherty Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1
20 Feb 2020
Severe Paediatric Disorders v0.9
DNM2
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
20 Feb 2020
Severe Paediatric Disorders v0.9
DNM1L
Louise Daugherty Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L
20 Feb 2020
Severe Paediatric Disorders v0.9
DNM1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 31, 616346 for gene: DNM1
20 Feb 2020
Severe Paediatric Disorders v0.9
DNASE2
Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
20 Feb 2020
Severe Paediatric Disorders v0.9
DNAJC19
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type V, 610198 for gene: DNAJC19
20 Feb 2020
Severe Paediatric Disorders v0.9
DNAJB11
Louise Daugherty Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 for gene: DNAJB11
20 Feb 2020
Severe Paediatric Disorders v0.9
DNAI1
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
20 Feb 2020
Severe Paediatric Disorders v0.9
DNAH5
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
20 Feb 2020
Severe Paediatric Disorders v0.9
DNAH11
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
20 Feb 2020
Severe Paediatric Disorders v0.9
DNA2
Louise Daugherty Added phenotypes ?Seckel syndrome 8, 615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 for gene: DNA2
20 Feb 2020
Severe Paediatric Disorders v0.9
DMD
Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
20 Feb 2020
Severe Paediatric Disorders v0.9
DLX5
Louise Daugherty Added phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 for gene: DLX5
20 Feb 2020
Severe Paediatric Disorders v0.9
DLG4
Louise Daugherty Added phenotypes Intellectual disability with marfanoid features for gene: DLG4
20 Feb 2020
Severe Paediatric Disorders v0.9
DHX30
Louise Daugherty Added phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, 617804 for gene: DHX30
20 Feb 2020
Severe Paediatric Disorders v0.9
DHTKD1
Louise Daugherty Added phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 for gene: DHTKD1
20 Feb 2020
Severe Paediatric Disorders v0.9
DHPS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 for gene: DHPS
20 Feb 2020
Severe Paediatric Disorders v0.9
DHDDS
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
20 Feb 2020
Severe Paediatric Disorders v0.9
DHCR7
Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
20 Feb 2020
Severe Paediatric Disorders v0.9
DGUOK
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
20 Feb 2020
Severe Paediatric Disorders v0.9
DES
Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
20 Feb 2020
Severe Paediatric Disorders v0.9
DEPDC5
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 1, 604364 for gene: DEPDC5
20 Feb 2020
Severe Paediatric Disorders v0.9
DENND5A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 49, 617281 for gene: DENND5A
20 Feb 2020
Severe Paediatric Disorders v0.9
DCTN1
Louise Daugherty Added phenotypes Perry syndrome, 168605; Neuropathy, distal hereditary motor, type VIIB, 607641 for gene: DCTN1
20 Feb 2020
Severe Paediatric Disorders v0.9
DCLRE1C
Louise Daugherty Added phenotypes Omenn syndrome, 603554; Severe combined immunodeficiency, Athabascan type, 602450 for gene: DCLRE1C
20 Feb 2020
Severe Paediatric Disorders v0.9
DCDC2
Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
20 Feb 2020
Severe Paediatric Disorders v0.9
DCC
Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC
20 Feb 2020
Severe Paediatric Disorders v0.9
DBH
Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
20 Feb 2020
Severe Paediatric Disorders v0.9
DARS2
Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
DARS
Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
20 Feb 2020
Severe Paediatric Disorders v0.9
DAG1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 for gene: DAG1
20 Feb 2020
Severe Paediatric Disorders v0.9
CYP7B1
Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
20 Feb 2020
Severe Paediatric Disorders v0.9
CYP4F22
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
20 Feb 2020
Severe Paediatric Disorders v0.9
CYP27A1
Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
20 Feb 2020
Severe Paediatric Disorders v0.9
CYP11A1
Louise Daugherty Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 for gene: CYP11A1
20 Feb 2020
Severe Paediatric Disorders v0.9
CYFIP2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2
20 Feb 2020
Severe Paediatric Disorders v0.9
CYCS
Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
20 Feb 2020
Severe Paediatric Disorders v0.9
CYB5R3
Louise Daugherty Added phenotypes Methemoglobinemia, type I, 250800; Methemoglobinemia, type II, 250800 for gene: CYB5R3
20 Feb 2020
Severe Paediatric Disorders v0.9
CXCR4
Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
20 Feb 2020
Severe Paediatric Disorders v0.9
CWC27
Louise Daugherty Added phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 for gene: CWC27
20 Feb 2020
Severe Paediatric Disorders v0.9
CUX2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 67, 618141 for gene: CUX2
20 Feb 2020
Severe Paediatric Disorders v0.9
CUX1
Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
20 Feb 2020
Severe Paediatric Disorders v0.9
CTNS
Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
20 Feb 2020
Severe Paediatric Disorders v0.9
CTNNB1
Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
20 Feb 2020
Severe Paediatric Disorders v0.9
CTNNA2
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 9, 618174 for gene: CTNNA2
20 Feb 2020
Severe Paediatric Disorders v0.9
CTH
Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
20 Feb 2020
Severe Paediatric Disorders v0.9
CTDP1
Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
20 Feb 2020
Severe Paediatric Disorders v0.9
CTC1
Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
20 Feb 2020
Severe Paediatric Disorders v0.9
CTBP1
Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1
20 Feb 2020
Severe Paediatric Disorders v0.9
CSNK2B
Louise Daugherty Added phenotypes Intellectual disability with or without myoclonic epilepsy. for gene: CSNK2B
20 Feb 2020
Severe Paediatric Disorders v0.9
CSF1R
Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
20 Feb 2020
Severe Paediatric Disorders v0.9
CRYAB
Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
20 Feb 2020
Severe Paediatric Disorders v0.9
ISPD
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD
20 Feb 2020
Severe Paediatric Disorders v0.9
CRIPT
Louise Daugherty Added phenotypes Short stature with microcephaly and distinctive facies, 615789 for gene: CRIPT
20 Feb 2020
Severe Paediatric Disorders v0.9
CRB2
Louise Daugherty Added phenotypes Focal segmental glomerulosclerosis 9, 616220; Ventriculomegaly with cystic kidney disease, 219730 for gene: CRB2
20 Feb 2020
Severe Paediatric Disorders v0.9
CRADD
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
20 Feb 2020
Severe Paediatric Disorders v0.9
CPT2
Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
20 Feb 2020
Severe Paediatric Disorders v0.9
CPS1
Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
20 Feb 2020
Severe Paediatric Disorders v0.9
COX7B
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
20 Feb 2020
Severe Paediatric Disorders v0.9
COX6A1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COX15
Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
20 Feb 2020
Severe Paediatric Disorders v0.9
COLQ
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
20 Feb 2020
Severe Paediatric Disorders v0.9
COL9A3
Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 for gene: COL9A3
20 Feb 2020
Severe Paediatric Disorders v0.9
COL7A1
Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL6A3
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090; Dystonia 27, 616411 for gene: COL6A3
20 Feb 2020
Severe Paediatric Disorders v0.9
COL6A2
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; ?Myosclerosis, congenital, 255600; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A2
20 Feb 2020
Severe Paediatric Disorders v0.9
COL6A1
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL4A1
Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL3A1
Louise Daugherty Added phenotypes Polymicrogyria with or without vascular-type EDS, 618343; Ehlers-Danlos syndrome, vascular type, 130050 for gene: COL3A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL2A1
Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL1A2
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
20 Feb 2020
Severe Paediatric Disorders v0.9
COL1A1
Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL17A1
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL13A1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 19, 616720 for gene: COL13A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COL12A1
Louise Daugherty Added phenotypes ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 for gene: COL12A1
20 Feb 2020
Severe Paediatric Disorders v0.9
COASY
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
20 Feb 2020
Severe Paediatric Disorders v0.9
COA7
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 for gene: COA7
20 Feb 2020
Severe Paediatric Disorders v0.9
COA6
Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
20 Feb 2020
Severe Paediatric Disorders v0.9
CNTNAP1
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
20 Feb 2020
Severe Paediatric Disorders v0.9
CNPY3
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 60, 617929 for gene: CNPY3
20 Feb 2020
Severe Paediatric Disorders v0.9
CNOT1
Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
20 Feb 2020
Severe Paediatric Disorders v0.9
CLPB
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
20 Feb 2020
Severe Paediatric Disorders v0.9
CLN8
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
20 Feb 2020
Severe Paediatric Disorders v0.9
CLDN19
Louise Daugherty Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
20 Feb 2020
Severe Paediatric Disorders v0.9
CLDN1
Louise Daugherty Added phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 for gene: CLDN1
20 Feb 2020
Severe Paediatric Disorders v0.9
CLCN5
Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
20 Feb 2020
Severe Paediatric Disorders v0.9
CLCN2
Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651; Hyperaldosteronism, familial, type II, 605635; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 for gene: CLCN2
20 Feb 2020
Severe Paediatric Disorders v0.9
CHST3
Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 for gene: CHST3
20 Feb 2020
Severe Paediatric Disorders v0.9
CHRNG
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
20 Feb 2020
Severe Paediatric Disorders v0.9
CHRNE
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
20 Feb 2020
Severe Paediatric Disorders v0.9
CHRND
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
20 Feb 2020
Severe Paediatric Disorders v0.9
CHRNB1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
20 Feb 2020
Severe Paediatric Disorders v0.9
CHRNA1
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
20 Feb 2020
Severe Paediatric Disorders v0.9
CHD8
Louise Daugherty Added phenotypes autism susceptibility; Overgrowth with Intellectual disability for gene: CHD8
20 Feb 2020
Severe Paediatric Disorders v0.9
CHD7
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800 for gene: CHD7
20 Feb 2020
Severe Paediatric Disorders v0.9
CHD2
Louise Daugherty Added phenotypes Epileptic encephalopathy, childhood-onset, 615369 for gene: CHD2
20 Feb 2020
Severe Paediatric Disorders v0.9
CHCHD10
Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
20 Feb 2020
Severe Paediatric Disorders v0.9
CHAT
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 for gene: CHAT
20 Feb 2020
Severe Paediatric Disorders v0.9
CFTR
Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
20 Feb 2020
Severe Paediatric Disorders v0.9
CFL2
Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
20 Feb 2020
Severe Paediatric Disorders v0.9
CFHR5
Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
20 Feb 2020
Severe Paediatric Disorders v0.9
C21orf2
Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
20 Feb 2020
Severe Paediatric Disorders v0.9
CEP83
Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
20 Feb 2020
Severe Paediatric Disorders v0.9
CEP164
Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
20 Feb 2020
Severe Paediatric Disorders v0.9
CEP120
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
20 Feb 2020
Severe Paediatric Disorders v0.9
CDKN1C
Louise Daugherty Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C
20 Feb 2020
Severe Paediatric Disorders v0.9
CDKL5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5
20 Feb 2020
Severe Paediatric Disorders v0.9
CDH3
Louise Daugherty Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
20 Feb 2020
Severe Paediatric Disorders v0.9
CDAN1
Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
20 Feb 2020
Severe Paediatric Disorders v0.9
CD59
Louise Daugherty Added phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 for gene: CD59
20 Feb 2020
Severe Paediatric Disorders v0.9
CD55
Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
20 Feb 2020
Severe Paediatric Disorders v0.9
CD40LG
Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
20 Feb 2020
Severe Paediatric Disorders v0.9
CD40
Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
20 Feb 2020
Severe Paediatric Disorders v0.9
CCT5
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
20 Feb 2020
Severe Paediatric Disorders v0.9
WISP3
Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
20 Feb 2020
Severe Paediatric Disorders v0.9
CBS
Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
20 Feb 2020
Severe Paediatric Disorders v0.9
CBL
Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
20 Feb 2020
Severe Paediatric Disorders v0.9
CAV3
Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3
20 Feb 2020
Severe Paediatric Disorders v0.9
CASR
Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR
20 Feb 2020
Severe Paediatric Disorders v0.9
CASQ1
Louise Daugherty Added phenotypes Myopathy, vacuolar, with CASQ1 aggregates, 616231 for gene: CASQ1
20 Feb 2020
Severe Paediatric Disorders v0.9
CASK
Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK
20 Feb 2020
Severe Paediatric Disorders v0.9
CARD11
Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
20 Feb 2020
Severe Paediatric Disorders v0.9
CAMTA1
Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
20 Feb 2020
Severe Paediatric Disorders v0.9
CAD
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 50, 616457 for gene: CAD
20 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1G
Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 for gene: CACNA1G
20 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1E
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 69, 618285 for gene: CACNA1E
20 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1C
Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
20 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 for gene: CACNA1B
20 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A
20 Feb 2020
Severe Paediatric Disorders v0.9
CA8
Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
20 Feb 2020
Severe Paediatric Disorders v0.9
CA2
Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 for gene: CA2
20 Feb 2020
Severe Paediatric Disorders v0.9
C19orf12
Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
20 Feb 2020
Severe Paediatric Disorders v0.9
C15orf41
Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
20 Feb 2020
Severe Paediatric Disorders v0.9
BTK
Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
20 Feb 2020
Severe Paediatric Disorders v0.9
BSND
Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
20 Feb 2020
Severe Paediatric Disorders v0.9
BSCL2
Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
20 Feb 2020
Severe Paediatric Disorders v0.9
BRPF1
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
20 Feb 2020
Severe Paediatric Disorders v0.9
BRAT1
Louise Daugherty Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 for gene: BRAT1
20 Feb 2020
Severe Paediatric Disorders v0.9
BPTF
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
20 Feb 2020
Severe Paediatric Disorders v0.9
BOLA3
Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
20 Feb 2020
Severe Paediatric Disorders v0.9
BMP4
Louise Daugherty Added phenotypes Microphthalmia, syndromic 6, 607932; Orofacial cleft 11, 600625 for gene: BMP4
20 Feb 2020
Severe Paediatric Disorders v0.9
BMP2
Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
20 Feb 2020
Severe Paediatric Disorders v0.9
BIN1
Louise Daugherty Added phenotypes Centronuclear myopathy 2, 255200 for gene: BIN1
20 Feb 2020
Severe Paediatric Disorders v0.9
BHLHA9
Louise Daugherty Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 for gene: BHLHA9
20 Feb 2020
Severe Paediatric Disorders v0.9
BCOR
Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
20 Feb 2020
Severe Paediatric Disorders v0.9
BCL11B
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
20 Feb 2020
Severe Paediatric Disorders v0.9
BAG3
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
20 Feb 2020
Severe Paediatric Disorders v0.9
B4GAT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 for gene: B4GAT1
20 Feb 2020
Severe Paediatric Disorders v0.9
B3GAT3
Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
20 Feb 2020
Severe Paediatric Disorders v0.9
B3GALT6
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6
20 Feb 2020
Severe Paediatric Disorders v0.9
B3GALNT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 for gene: B3GALNT2
20 Feb 2020
Severe Paediatric Disorders v0.9
AUH
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
20 Feb 2020
Severe Paediatric Disorders v0.9
ATRX
Louise Daugherty Added phenotypes Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580 for gene: ATRX
20 Feb 2020
Severe Paediatric Disorders v0.9
ATP6V1B2
Louise Daugherty Added phenotypes Zimmermann-Laband syndrome 2, 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 for gene: ATP6V1B2
20 Feb 2020
Severe Paediatric Disorders v0.9
ATP6V1B1
Louise Daugherty Added phenotypes Renal tubular acidosis with deafness, 267300 for gene: ATP6V1B1
20 Feb 2020
Severe Paediatric Disorders v0.9
ATP6V1A
Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 3, 618012; Cutis laxa, autosomal recessive, type IID, 617403 for gene: ATP6V1A
20 Feb 2020
Severe Paediatric Disorders v0.9
ATP5D
Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 for gene: ATP5D
20 Feb 2020
Severe Paediatric Disorders v0.9
ATP2A1
Louise Daugherty Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
20 Feb 2020
Severe Paediatric Disorders v0.9
ATP1A1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1
20 Feb 2020
Severe Paediatric Disorders v0.9
ATL1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
20 Feb 2020
Severe Paediatric Disorders v0.9
ASNS
Louise Daugherty Added phenotypes Asparagine synthetase deficiency, 615574 for gene: ASNS
20 Feb 2020
Severe Paediatric Disorders v0.9
ASAH1
Louise Daugherty Added phenotypes Farber lipogranulomatosis, 228000; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 for gene: ASAH1
20 Feb 2020
Severe Paediatric Disorders v0.9
ARX
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX
20 Feb 2020
Severe Paediatric Disorders v0.9
ARV1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 38, 617020 for gene: ARV1
20 Feb 2020
Severe Paediatric Disorders v0.9
ARPC1B
Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
20 Feb 2020
Severe Paediatric Disorders v0.9
ARHGEF9
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
20 Feb 2020
Severe Paediatric Disorders v0.9
ARFGEF2
Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
20 Feb 2020
Severe Paediatric Disorders v0.9
ARCN1
Louise Daugherty Added phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 for gene: ARCN1
20 Feb 2020
Severe Paediatric Disorders v0.9
AR
Louise Daugherty Added phenotypes Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 for gene: AR
20 Feb 2020
Severe Paediatric Disorders v0.9
APTX
Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
20 Feb 2020
Severe Paediatric Disorders v0.9
APOE
Louise Daugherty Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE
20 Feb 2020
Severe Paediatric Disorders v0.9
APOA1
Louise Daugherty Added phenotypes Amyloidosis, 3 or more types, 105200; ApoA-I and apoC-III deficiency, combined, 618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 for gene: APOA1
20 Feb 2020
Severe Paediatric Disorders v0.9
AP3B2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 48, 617276 for gene: AP3B2
20 Feb 2020
Severe Paediatric Disorders v0.9
AP2M1
Louise Daugherty Added phenotypes Intellectual developmental disorder 60 with seizures, 618587 for gene: AP2M1
20 Feb 2020
Severe Paediatric Disorders v0.9
ANOS1
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 for gene: ANOS1
20 Feb 2020
Severe Paediatric Disorders v0.9
ANO5
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260 for gene: ANO5
20 Feb 2020
Severe Paediatric Disorders v0.9
ANKS6
Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
20 Feb 2020
Severe Paediatric Disorders v0.9
ANKRD26
Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
20 Feb 2020
Severe Paediatric Disorders v0.9
AMT
Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: AMT
20 Feb 2020
Severe Paediatric Disorders v0.9
AMER1
Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
20 Feb 2020
Severe Paediatric Disorders v0.9
AMACR
Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
20 Feb 2020
Severe Paediatric Disorders v0.9
ALOXE3
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 3, 606545 for gene: ALOXE3
20 Feb 2020
Severe Paediatric Disorders v0.9
ALOX12B
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 2, 242100 for gene: ALOX12B
20 Feb 2020
Severe Paediatric Disorders v0.9
ALG8
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
20 Feb 2020
Severe Paediatric Disorders v0.9
ALG13
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 36, 300884 for gene: ALG13
20 Feb 2020
Severe Paediatric Disorders v0.9
ALDH6A1
Louise Daugherty Added phenotypes Methylmalonate semialdehyde dehydrogenase deficiency, 614105 for gene: ALDH6A1
20 Feb 2020
Severe Paediatric Disorders v0.9
ALDH1A3
Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
20 Feb 2020
Severe Paediatric Disorders v0.9
ALB
Louise Daugherty Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB
20 Feb 2020
Severe Paediatric Disorders v0.9
ALAS2
Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
20 Feb 2020
Severe Paediatric Disorders v0.9
AKR1D1
Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 2, 235555 for gene: AKR1D1
20 Feb 2020
Severe Paediatric Disorders v0.9
AIRE
Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
20 Feb 2020
Severe Paediatric Disorders v0.9
AICDA
Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 2, 605258 for gene: AICDA
20 Feb 2020
Severe Paediatric Disorders v0.9
AGRN
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
20 Feb 2020
Severe Paediatric Disorders v0.9
ADPRHL2
Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 for gene: ADPRHL2
20 Feb 2020
Severe Paediatric Disorders v0.9
ADK
Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
20 Feb 2020
Severe Paediatric Disorders v0.9
ADGRG6
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
20 Feb 2020
Severe Paediatric Disorders v0.9
ADCY5
Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
20 Feb 2020
Severe Paediatric Disorders v0.9
ADAMTS13
Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
20 Feb 2020
Severe Paediatric Disorders v0.9
ACTL6B
Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
20 Feb 2020
Severe Paediatric Disorders v0.9
ACTG2
Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
20 Feb 2020
Severe Paediatric Disorders v0.9
ACTC1
Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
20 Feb 2020
Severe Paediatric Disorders v0.9
ACTA2
Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
20 Feb 2020
Severe Paediatric Disorders v0.9
ACTA1
Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
20 Feb 2020
Severe Paediatric Disorders v0.9
ACSF3
Louise Daugherty Added phenotypes Combined malonic and methylmalonic aciduria, 614265 for gene: ACSF3
20 Feb 2020
Severe Paediatric Disorders v0.9
ACP5
Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
20 Feb 2020
Severe Paediatric Disorders v0.9
ACAT1
Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
20 Feb 2020
Severe Paediatric Disorders v0.9
ACAN
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
20 Feb 2020
Severe Paediatric Disorders v0.9
ACADSB
Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
20 Feb 2020
Severe Paediatric Disorders v0.9
ABHD12
Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 for gene: ABHD12
20 Feb 2020
Severe Paediatric Disorders v0.9
ABCD4
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
20 Feb 2020
Severe Paediatric Disorders v0.9
ABCD1
Louise Daugherty Added phenotypes Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, 300100 for gene: ABCD1
20 Feb 2020
Severe Paediatric Disorders v0.9
ABCC9
Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
20 Feb 2020
Severe Paediatric Disorders v0.9
ABCC6
Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
20 Feb 2020
Severe Paediatric Disorders v0.9
ABCB7
Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
20 Feb 2020
Severe Paediatric Disorders v0.9
ABCA12
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
20 Feb 2020
Severe Paediatric Disorders v0.9
AARS2
Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
AARS
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAF3IP2
Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
20 Feb 2020
Severe Paediatric Disorders v0.9
SMO
Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
20 Feb 2020
Severe Paediatric Disorders v0.9
RPS15
Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
20 Feb 2020
Severe Paediatric Disorders v0.9
NFAT5
Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
20 Feb 2020
Severe Paediatric Disorders v0.9
MUTYH
Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
20 Feb 2020
Severe Paediatric Disorders v0.9
KIRREL3
Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
20 Feb 2020
Severe Paediatric Disorders v0.9
IL22
Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
20 Feb 2020
Severe Paediatric Disorders v0.9
IL17A
Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
20 Feb 2020
Severe Paediatric Disorders v0.9
TSEN34
Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
20 Feb 2020
Severe Paediatric Disorders v0.9
TPM4
Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
20 Feb 2020
Severe Paediatric Disorders v0.9
SEMA3E
Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
20 Feb 2020
Severe Paediatric Disorders v0.9
REEP2
Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKACG
Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNT2
Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
20 Feb 2020
Severe Paediatric Disorders v0.9
GFI1
Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
20 Feb 2020
Severe Paediatric Disorders v0.9
FRMD4A
Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
20 Feb 2020
Severe Paediatric Disorders v0.9
ATPAF2
Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
20 Feb 2020
Severe Paediatric Disorders v0.9
ZSWIM6
Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
20 Feb 2020
Severe Paediatric Disorders v0.9
ZNF142
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
20 Feb 2020
Severe Paediatric Disorders v0.9
ZMPSTE24
Louise Daugherty Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
20 Feb 2020
Severe Paediatric Disorders v0.9
ZMIZ1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
20 Feb 2020
Severe Paediatric Disorders v0.9
YWHAG
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
20 Feb 2020
Severe Paediatric Disorders v0.9
YARS2
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
XPR1
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
20 Feb 2020
Severe Paediatric Disorders v0.9
XDH
Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
20 Feb 2020
Severe Paediatric Disorders v0.9
WWOX
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
20 Feb 2020
Severe Paediatric Disorders v0.9
WNT7A
Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
20 Feb 2020
Severe Paediatric Disorders v0.9
WNT10B
Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
20 Feb 2020
Severe Paediatric Disorders v0.9
WNT10A
Louise Daugherty Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR81
Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR62
Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR60
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR45B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR45
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR4
Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR35
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR34
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR19
Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
20 Feb 2020
Severe Paediatric Disorders v0.9
WDR11
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
20 Feb 2020
Severe Paediatric Disorders v0.9
WASF1
Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
20 Feb 2020
Severe Paediatric Disorders v0.9
WAS
Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
20 Feb 2020
Severe Paediatric Disorders v0.9
WARS2
Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
VSX2
Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
20 Feb 2020
Severe Paediatric Disorders v0.9
VPS33B
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
20 Feb 2020
Severe Paediatric Disorders v0.9
VPS13A
Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
20 Feb 2020
Severe Paediatric Disorders v0.9
VMA21
Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
20 Feb 2020
Severe Paediatric Disorders v0.9
VLDLR
Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
20 Feb 2020
Severe Paediatric Disorders v0.9
VIPAS39
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
20 Feb 2020
Severe Paediatric Disorders v0.9
VHL
Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
20 Feb 2020
Severe Paediatric Disorders v0.9
VCP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
20 Feb 2020
Severe Paediatric Disorders v0.9
VARS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
20 Feb 2020
Severe Paediatric Disorders v0.9
VAMP1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
20 Feb 2020
Severe Paediatric Disorders v0.9
USB1
Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
20 Feb 2020
Severe Paediatric Disorders v0.9
UROS
Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
20 Feb 2020
Severe Paediatric Disorders v0.9
UROD
Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
20 Feb 2020
Severe Paediatric Disorders v0.9
UNG
Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
20 Feb 2020
Severe Paediatric Disorders v0.9
UNC93B1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
20 Feb 2020
Severe Paediatric Disorders v0.9
UNC80
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
20 Feb 2020
Severe Paediatric Disorders v0.9
UMOD
Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
20 Feb 2020
Severe Paediatric Disorders v0.9
UFC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
20 Feb 2020
Severe Paediatric Disorders v0.9
UBTF
Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
20 Feb 2020
Severe Paediatric Disorders v0.9
UBA5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
20 Feb 2020
Severe Paediatric Disorders v0.9
TYROBP
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
20 Feb 2020
Severe Paediatric Disorders v0.9
TWNK
Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
20 Feb 2020
Severe Paediatric Disorders v0.9
TWIST1
Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBGCP6
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBGCP4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBG1
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB3
Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB2B
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB2A
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB1
Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBB
Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
20 Feb 2020
Severe Paediatric Disorders v0.9
TUBA8
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
20 Feb 2020
Severe Paediatric Disorders v0.9
TTR
Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
20 Feb 2020
Severe Paediatric Disorders v0.9
TTPA
Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
20 Feb 2020
Severe Paediatric Disorders v0.9
TTN
Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
20 Feb 2020
Severe Paediatric Disorders v0.9
TTC21B
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
20 Feb 2020
Severe Paediatric Disorders v0.9
TSHR
Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
20 Feb 2020
Severe Paediatric Disorders v0.9
TSHB
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
20 Feb 2020
Severe Paediatric Disorders v0.9
TRRAP
Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
20 Feb 2020
Severe Paediatric Disorders v0.9
TRPV6
Louise Daugherty Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
20 Feb 2020
Severe Paediatric Disorders v0.9
TRPV4
Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
20 Feb 2020
Severe Paediatric Disorders v0.9
TRPM4
Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
20 Feb 2020
Severe Paediatric Disorders v0.9
TRNT1
Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
TRIP4
Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
20 Feb 2020
Severe Paediatric Disorders v0.9
TREX1
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
20 Feb 2020
Severe Paediatric Disorders v0.9
TREM2
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAPPC12
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
20 Feb 2020
Severe Paediatric Disorders v0.9
TRAF7
Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
20 Feb 2020
Severe Paediatric Disorders v0.9
TPO
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
20 Feb 2020
Severe Paediatric Disorders v0.9
TPM3
Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
20 Feb 2020
Severe Paediatric Disorders v0.9
TPM2
Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
20 Feb 2020
Severe Paediatric Disorders v0.9
TPK1
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
20 Feb 2020
Severe Paediatric Disorders v0.9
TOP3A
Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
20 Feb 2020
Severe Paediatric Disorders v0.9
TNNT3
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
20 Feb 2020
Severe Paediatric Disorders v0.9
TNNT1
Louise Daugherty Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
TNNI2
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM94
Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM70
Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM67
Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM43
Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
20 Feb 2020
Severe Paediatric Disorders v0.9
TLR3
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
20 Feb 2020
Severe Paediatric Disorders v0.9
TK2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
20 Feb 2020
Severe Paediatric Disorders v0.9
TIMM50
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
20 Feb 2020
Severe Paediatric Disorders v0.9
TICAM1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
20 Feb 2020
Severe Paediatric Disorders v0.9
TIA1
Louise Daugherty Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
20 Feb 2020
Severe Paediatric Disorders v0.9
THRB
Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
20 Feb 2020
Severe Paediatric Disorders v0.9
THRA
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
20 Feb 2020
Severe Paediatric Disorders v0.9
THPO
Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
20 Feb 2020
Severe Paediatric Disorders v0.9
THOC6
Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
20 Feb 2020
Severe Paediatric Disorders v0.9
THOC2
Louise Daugherty Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
20 Feb 2020
Severe Paediatric Disorders v0.9
THBD
Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
20 Feb 2020
Severe Paediatric Disorders v0.9
THAP1
Louise Daugherty Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
20 Feb 2020
Severe Paediatric Disorders v0.9
TH
Louise Daugherty Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
20 Feb 2020
Severe Paediatric Disorders v0.9
TGM1
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
20 Feb 2020
Severe Paediatric Disorders v0.9
TGFB3
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
20 Feb 2020
Severe Paediatric Disorders v0.9
TGFB1
Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
20 Feb 2020
Severe Paediatric Disorders v0.9
TG
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
20 Feb 2020
Severe Paediatric Disorders v0.9
TFG
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
20 Feb 2020
Severe Paediatric Disorders v0.9
TENM3
Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
20 Feb 2020
Severe Paediatric Disorders v0.9
TCTEX1D2
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
20 Feb 2020
Severe Paediatric Disorders v0.9
TCF4
Louise Daugherty Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
20 Feb 2020
Severe Paediatric Disorders v0.9
TCF20
Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
20 Feb 2020
Severe Paediatric Disorders v0.9
TCAP
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
20 Feb 2020
Severe Paediatric Disorders v0.9
TBX4
Louise Daugherty Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
20 Feb 2020
Severe Paediatric Disorders v0.9
TBX22
Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
20 Feb 2020
Severe Paediatric Disorders v0.9
TBR1
Louise Daugherty Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
20 Feb 2020
Severe Paediatric Disorders v0.9
TBCK
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
20 Feb 2020
Severe Paediatric Disorders v0.9
TBCE
Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
20 Feb 2020
Severe Paediatric Disorders v0.9
TBCD
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
20 Feb 2020
Severe Paediatric Disorders v0.9
TBC1D24
Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
20 Feb 2020
Severe Paediatric Disorders v0.9
TAZ
Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
20 Feb 2020
Severe Paediatric Disorders v0.9
TARDBP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
20 Feb 2020
Severe Paediatric Disorders v0.9
TAPT1
Louise Daugherty Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
20 Feb 2020
Severe Paediatric Disorders v0.9
TANGO2
Louise Daugherty Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
20 Feb 2020
Severe Paediatric Disorders v0.9
SZT2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
20 Feb 2020
Severe Paediatric Disorders v0.9
SYNJ1
Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
20 Feb 2020
Severe Paediatric Disorders v0.9
SYNE1
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
20 Feb 2020
Severe Paediatric Disorders v0.9
SYN1
Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
20 Feb 2020
Severe Paediatric Disorders v0.9
SUZ12
Louise Daugherty Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
20 Feb 2020
Severe Paediatric Disorders v0.9
SURF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
20 Feb 2020
Severe Paediatric Disorders v0.9
SUCLG1
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
20 Feb 2020
Severe Paediatric Disorders v0.9
SUCLA2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
20 Feb 2020
Severe Paediatric Disorders v0.9
STXBP1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
20 Feb 2020
Severe Paediatric Disorders v0.9
STX1B
Louise Daugherty Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
20 Feb 2020
Severe Paediatric Disorders v0.9
STS
Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
20 Feb 2020
Severe Paediatric Disorders v0.9
STRA6
Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM173
Louise Daugherty Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
20 Feb 2020
Severe Paediatric Disorders v0.9
STIM1
Louise Daugherty Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
20 Feb 2020
Severe Paediatric Disorders v0.9
STAT5B
Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
20 Feb 2020
Severe Paediatric Disorders v0.9
STAC3
Louise Daugherty Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
20 Feb 2020
Severe Paediatric Disorders v0.9
ST3GAL3
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
20 Feb 2020
Severe Paediatric Disorders v0.9
SRC
Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
20 Feb 2020
Severe Paediatric Disorders v0.9
SQSTM1
Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTLC2
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTLC1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTBN4
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
20 Feb 2020
Severe Paediatric Disorders v0.9
SPTAN1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
20 Feb 2020
Severe Paediatric Disorders v0.9
SPPL2A
Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
20 Feb 2020
Severe Paediatric Disorders v0.9
SPINK5
Louise Daugherty Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
20 Feb 2020
Severe Paediatric Disorders v0.9
SPG11
Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
20 Feb 2020
Severe Paediatric Disorders v0.9
SPEG
Louise Daugherty Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
20 Feb 2020
Severe Paediatric Disorders v0.9
SP110
Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX9
Louise Daugherty Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX3
Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
20 Feb 2020
Severe Paediatric Disorders v0.9
SOX10
Louise Daugherty Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
20 Feb 2020
Severe Paediatric Disorders v0.9
SNORD118
Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
20 Feb 2020
Severe Paediatric Disorders v0.9
SNAP29
Louise Daugherty Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
20 Feb 2020
Severe Paediatric Disorders v0.9
SMOC1
Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
20 Feb 2020
Severe Paediatric Disorders v0.9
SMCHD1
Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
20 Feb 2020
Severe Paediatric Disorders v0.9
SMARCD1
Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLCO2A1
Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC6A9
Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC5A7
Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC5A5
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC4A4
Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC4A11
Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC39A4
Louise Daugherty Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC39A14
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC34A3
Louise Daugherty Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC34A2
Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC30A10
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC2A1
Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC29A3
Louise Daugherty Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC27A4
Louise Daugherty Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC26A4
Louise Daugherty Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A46
Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A42
Louise Daugherty Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A4
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A22
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A19
Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A15
Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A12
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC25A1
Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC20A2
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC1A4
Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC1A2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC19A3
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC19A2
Louise Daugherty Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC18A3
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC16A1
Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC13A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC12A6
Louise Daugherty Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC12A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC11A2
Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
20 Feb 2020
Severe Paediatric Disorders v0.9
SLC10A7
Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
20 Feb 2020
Severe Paediatric Disorders v0.9
SIK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
20 Feb 2020
Severe Paediatric Disorders v0.9
SHOX
Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
20 Feb 2020
Severe Paediatric Disorders v0.9
SHOC2
Louise Daugherty Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
20 Feb 2020
Severe Paediatric Disorders v0.9
SHH
Louise Daugherty Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
20 Feb 2020
Severe Paediatric Disorders v0.9
SH3TC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
20 Feb 2020
Severe Paediatric Disorders v0.9
SGCD
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
20 Feb 2020
Severe Paediatric Disorders v0.9
SETX
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
20 Feb 2020
Severe Paediatric Disorders v0.9
SERAC1
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
20 Feb 2020
Severe Paediatric Disorders v0.9
SEPT9
Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
20 Feb 2020
Severe Paediatric Disorders v0.9
SELENON
Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
20 Feb 2020
Severe Paediatric Disorders v0.9
SEC23B
Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
20 Feb 2020
Severe Paediatric Disorders v0.9
SDHD
Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
20 Feb 2020
Severe Paediatric Disorders v0.9
SDHA
Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
20 Feb 2020
Severe Paediatric Disorders v0.9
SCO2
Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
20 Feb 2020
Severe Paediatric Disorders v0.9
SCNN1B
Louise Daugherty Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
20 Feb 2020
Severe Paediatric Disorders v0.9
SCNN1A
Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN9A
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN8A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN4A
Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN3A
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN2A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN1B
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN1A
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCN11A
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
20 Feb 2020
Severe Paediatric Disorders v0.9
SCARB2
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
20 Feb 2020
Severe Paediatric Disorders v0.9
SC5D
Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
20 Feb 2020
Severe Paediatric Disorders v0.9
SBF2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
20 Feb 2020
Severe Paediatric Disorders v0.9
SBF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
20 Feb 2020
Severe Paediatric Disorders v0.9
RYR2
Louise Daugherty Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
20 Feb 2020
Severe Paediatric Disorders v0.9
RYR1
Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
20 Feb 2020
Severe Paediatric Disorders v0.9
TMEM5
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
20 Feb 2020
Severe Paediatric Disorders v0.9
RUNX2
Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
20 Feb 2020
Severe Paediatric Disorders v0.9
RUNX1
Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
20 Feb 2020
Severe Paediatric Disorders v0.9
RTTN
Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
20 Feb 2020
Severe Paediatric Disorders v0.9
RTN4IP1
Louise Daugherty Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
20 Feb 2020
Severe Paediatric Disorders v0.9
RRM2B
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 for gene: RRM2B
20 Feb 2020
Severe Paediatric Disorders v0.9
RPGR
Louise Daugherty Added phenotypes Retinitis pigmentosa 3, 300029; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 for gene: RPGR
20 Feb 2020
Severe Paediatric Disorders v0.9
RORB
Louise Daugherty Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 for gene: RORB
20 Feb 2020
Severe Paediatric Disorders v0.9
RORA
Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
20 Feb 2020
Severe Paediatric Disorders v0.9
ROBO3
Louise Daugherty Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 for gene: ROBO3
20 Feb 2020
Severe Paediatric Disorders v0.9
RNASET2
Louise Daugherty Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
20 Feb 2020
Severe Paediatric Disorders v0.9
RNASEH1
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 for gene: RNASEH1
20 Feb 2020
Severe Paediatric Disorders v0.9
RMRP
Louise Daugherty Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP
20 Feb 2020
Severe Paediatric Disorders v0.9
RHOBTB2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 64, 618004 for gene: RHOBTB2
20 Feb 2020
Severe Paediatric Disorders v0.9
RETREG1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
20 Feb 2020
Severe Paediatric Disorders v0.9
RERE
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 for gene: RERE
20 Feb 2020
Severe Paediatric Disorders v0.9
REN
Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
20 Feb 2020
Severe Paediatric Disorders v0.9
REEP1
Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
20 Feb 2020
Severe Paediatric Disorders v0.9
RECQL4
Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
20 Feb 2020
Severe Paediatric Disorders v0.9
RBM8A
Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
20 Feb 2020
Severe Paediatric Disorders v0.9
RBCK1
Louise Daugherty Added phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 for gene: RBCK1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAX
Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
20 Feb 2020
Severe Paediatric Disorders v0.9
RARB
Louise Daugherty Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
20 Feb 2020
Severe Paediatric Disorders v0.9
RAPSN
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
20 Feb 2020
Severe Paediatric Disorders v0.9
RAI1
Louise Daugherty Added phenotypes Smith-Magenis syndrome, 182290 for gene: RAI1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAG2
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG2
20 Feb 2020
Severe Paediatric Disorders v0.9
RAG1
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAF1
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
20 Feb 2020
Severe Paediatric Disorders v0.9
RAC3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
20 Feb 2020
Severe Paediatric Disorders v0.9
RAB7A
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
20 Feb 2020
Severe Paediatric Disorders v0.9
RAB33B
Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
20 Feb 2020
Severe Paediatric Disorders v0.9
RAB11B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 for gene: RAB11B
20 Feb 2020
Severe Paediatric Disorders v0.9
QRSL1
Louise Daugherty Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
20 Feb 2020
Severe Paediatric Disorders v0.9
PUS7
Louise Daugherty Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
20 Feb 2020
Severe Paediatric Disorders v0.9
PUS1
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 for gene: PUS1
20 Feb 2020
Severe Paediatric Disorders v0.9
PTPN23
Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23
20 Feb 2020
Severe Paediatric Disorders v0.9
PTHLH
Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
20 Feb 2020
Severe Paediatric Disorders v0.9
PTH1R
Louise Daugherty Added phenotypes Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045 for gene: PTH1R
20 Feb 2020
Severe Paediatric Disorders v0.9
PSTPIP1
Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
20 Feb 2020
Severe Paediatric Disorders v0.9
PSEN1
Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
20 Feb 2020
Severe Paediatric Disorders v0.9
PRX
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900 for gene: PRX
20 Feb 2020
Severe Paediatric Disorders v0.9
PRUNE1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 for gene: PRUNE1
20 Feb 2020
Severe Paediatric Disorders v0.9
PRSS56
Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
20 Feb 2020
Severe Paediatric Disorders v0.9
PRRT2
Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
20 Feb 2020
Severe Paediatric Disorders v0.9
PRPS1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
20 Feb 2020
Severe Paediatric Disorders v0.9
PROS1
Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
20 Feb 2020
Severe Paediatric Disorders v0.9
PROKR2
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 for gene: PROKR2
20 Feb 2020
Severe Paediatric Disorders v0.9
PROC
Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
20 Feb 2020
Severe Paediatric Disorders v0.9
PRNP
Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKDC
Louise Daugherty Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 for gene: PRKDC
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKAR1A
Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
20 Feb 2020
Severe Paediatric Disorders v0.9
PRKAG2
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
20 Feb 2020
Severe Paediatric Disorders v0.9
PRG4
Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
20 Feb 2020
Severe Paediatric Disorders v0.9
PRDM12
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 for gene: PRDM12
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP3CA
Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP2CA
Louise Daugherty Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP1R21
Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
20 Feb 2020
Severe Paediatric Disorders v0.9
PPP1CB
Louise Daugherty Added phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
20 Feb 2020
Severe Paediatric Disorders v0.9
POR
Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
20 Feb 2020
Severe Paediatric Disorders v0.9
POMT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 for gene: POMT2
20 Feb 2020
Severe Paediatric Disorders v0.9
POMT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 for gene: POMT1
20 Feb 2020
Severe Paediatric Disorders v0.9
POMK
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK
20 Feb 2020
Severe Paediatric Disorders v0.9
POMGNT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2
20 Feb 2020
Severe Paediatric Disorders v0.9
POMGNT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
POLR3B
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
20 Feb 2020
Severe Paediatric Disorders v0.9
POLR3A
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 for gene: POLR3A
20 Feb 2020
Severe Paediatric Disorders v0.9
POLR2A
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A
20 Feb 2020
Severe Paediatric Disorders v0.9
POLG2
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
20 Feb 2020
Severe Paediatric Disorders v0.9
POLG
Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
20 Feb 2020
Severe Paediatric Disorders v0.9
POLA1
Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
20 Feb 2020
Severe Paediatric Disorders v0.9
PMP22
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22
20 Feb 2020
Severe Paediatric Disorders v0.9
PLK4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 for gene: PLK4
20 Feb 2020
Severe Paediatric Disorders v0.9
PLEC
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138 for gene: PLEC
20 Feb 2020
Severe Paediatric Disorders v0.9
PLCB1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 12, 613722 for gene: PLCB1
20 Feb 2020
Severe Paediatric Disorders v0.9
PLAA
Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
20 Feb 2020
Severe Paediatric Disorders v0.9
PLA2G6
Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
20 Feb 2020
Severe Paediatric Disorders v0.9
PLA2G4A
Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
20 Feb 2020
Severe Paediatric Disorders v0.9
PKLR
Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
20 Feb 2020
Severe Paediatric Disorders v0.9
PKHD1
Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
20 Feb 2020
Severe Paediatric Disorders v0.9
PITX1
Louise Daugherty Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800; Liebenberg syndrome, 186550 for gene: PITX1
20 Feb 2020
Severe Paediatric Disorders v0.9
PIK3CA
Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGW
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 for gene: PIGW
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGV
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 for gene: PIGV
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGU
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 for gene: PIGU
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGQ
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 77, 618548 for gene: PIGQ
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGO
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 for gene: PIGO
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGH
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 for gene: PIGH
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGC
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
20 Feb 2020
Severe Paediatric Disorders v0.9
PIGB
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 80, 618580 for gene: PIGB
20 Feb 2020
Severe Paediatric Disorders v0.9
PIEZO2
Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
20 Feb 2020
Severe Paediatric Disorders v0.9
PIEZO1
Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
20 Feb 2020
Severe Paediatric Disorders v0.9
PHOX2B
Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
20 Feb 2020
Severe Paediatric Disorders v0.9
PHACTR1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 70, 618298 for gene: PHACTR1
20 Feb 2020
Severe Paediatric Disorders v0.9
PGAP3
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 for gene: PGAP3
20 Feb 2020
Severe Paediatric Disorders v0.9
PGAP2
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 for gene: PGAP2
20 Feb 2020
Severe Paediatric Disorders v0.9
PDGFRB
Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
20 Feb 2020
Severe Paediatric Disorders v0.9
PDGFB
Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
20 Feb 2020
Severe Paediatric Disorders v0.9
PDE4D
Louise Daugherty Added phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 for gene: PDE4D
20 Feb 2020
Severe Paediatric Disorders v0.9
PCYT1A
Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
20 Feb 2020
Severe Paediatric Disorders v0.9
PCDH19
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
20 Feb 2020
Severe Paediatric Disorders v0.9
PBX1
Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
20 Feb 2020
Severe Paediatric Disorders v0.9
PAX9
Louise Daugherty Added phenotypes Tooth agenesis, selective, 3, 604625 for gene: PAX9
20 Feb 2020
Severe Paediatric Disorders v0.9
PAX8
Louise Daugherty Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 for gene: PAX8
20 Feb 2020
Severe Paediatric Disorders v0.9
PAX6
Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
20 Feb 2020
Severe Paediatric Disorders v0.9
PARS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 75, 618437 for gene: PARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
PAPSS2
Louise Daugherty Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 for gene: PAPSS2
20 Feb 2020
Severe Paediatric Disorders v0.9
PAPPA2
Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
20 Feb 2020
Severe Paediatric Disorders v0.9
PANK2
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
20 Feb 2020
Severe Paediatric Disorders v0.9
PACS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 66, 618067 for gene: PACS2
20 Feb 2020
Severe Paediatric Disorders v0.9
OTX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
20 Feb 2020
Severe Paediatric Disorders v0.9
OTUD6B
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
20 Feb 2020
Severe Paediatric Disorders v0.9
OTOF
Louise Daugherty Added phenotypes Deafness, autosomal recessive 9, 601071; Auditory neuropathy, autosomal recessive, 1, 601071 for gene: OTOF
20 Feb 2020
Severe Paediatric Disorders v0.9
OTC
Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
20 Feb 2020
Severe Paediatric Disorders v0.9
ORAI1
Louise Daugherty Added phenotypes Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883 for gene: ORAI1
20 Feb 2020
Severe Paediatric Disorders v0.9
OPHN1
Louise Daugherty Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
20 Feb 2020
Severe Paediatric Disorders v0.9
OPA3
Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
20 Feb 2020
Severe Paediatric Disorders v0.9
OPA1
Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
20 Feb 2020
Severe Paediatric Disorders v0.9
OAT
Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
20 Feb 2020
Severe Paediatric Disorders v0.9
NUS1
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
20 Feb 2020
Severe Paediatric Disorders v0.9
NTRK2
Louise Daugherty Added phenotypes Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830 for gene: NTRK2
20 Feb 2020
Severe Paediatric Disorders v0.9
NTRK1
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 for gene: NTRK1
20 Feb 2020
Severe Paediatric Disorders v0.9
NPRL3
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 3, 617118 for gene: NPRL3
20 Feb 2020
Severe Paediatric Disorders v0.9
NPR2
Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2
20 Feb 2020
Severe Paediatric Disorders v0.9
NPHP4
Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
20 Feb 2020
Severe Paediatric Disorders v0.9
NPHP3
Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
20 Feb 2020
Severe Paediatric Disorders v0.9
NPHP1
Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
20 Feb 2020
Severe Paediatric Disorders v0.9
NOTCH3
Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
20 Feb 2020
Severe Paediatric Disorders v0.9
NOG
Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
20 Feb 2020
Severe Paediatric Disorders v0.9
NLRP3
Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
20 Feb 2020
Severe Paediatric Disorders v0.9
NLRC4
Louise Daugherty Added phenotypes Autoinflammation with infantile enterocolitis, 616050; ?Familial cold autoinflammatory syndrome 4, 616115 for gene: NLRC4
20 Feb 2020
Severe Paediatric Disorders v0.9
NKX6-2
Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
20 Feb 2020
Severe Paediatric Disorders v0.9
NKX2-5
Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5
20 Feb 2020
Severe Paediatric Disorders v0.9
NKX2-1
Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
20 Feb 2020
Severe Paediatric Disorders v0.9
NIPAL4
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 for gene: NIPAL4
20 Feb 2020
Severe Paediatric Disorders v0.9
NHEJ1
Louise Daugherty Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 for gene: NHEJ1
20 Feb 2020
Severe Paediatric Disorders v0.9
NFIX
Louise Daugherty Added phenotypes Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535 for gene: NFIX
20 Feb 2020
Severe Paediatric Disorders v0.9
NFIA
Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
20 Feb 2020
Severe Paediatric Disorders v0.9
NFASC
Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
20 Feb 2020
Severe Paediatric Disorders v0.9
NEK8
Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
20 Feb 2020
Severe Paediatric Disorders v0.9
NEK1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
20 Feb 2020
Severe Paediatric Disorders v0.9
NEFL
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL
20 Feb 2020
Severe Paediatric Disorders v0.9
NEFH
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 for gene: NEFH
20 Feb 2020
Severe Paediatric Disorders v0.9
NEB
Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
20 Feb 2020
Severe Paediatric Disorders v0.9
NDUFB11
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
20 Feb 2020
Severe Paediatric Disorders v0.9
NDRG1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 for gene: NDRG1
20 Feb 2020
Severe Paediatric Disorders v0.9
NDP
Louise Daugherty Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
20 Feb 2020
Severe Paediatric Disorders v0.9
NDE1
Louise Daugherty Added phenotypes Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013 for gene: NDE1
20 Feb 2020
Severe Paediatric Disorders v0.9
NAXE
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 for gene: NAXE
20 Feb 2020
Severe Paediatric Disorders v0.9
NALCN
Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
20 Feb 2020
Severe Paediatric Disorders v0.9
NAGS
Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
20 Feb 2020
Severe Paediatric Disorders v0.9
NAGLU
Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU
20 Feb 2020
Severe Paediatric Disorders v0.9
NACC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 for gene: NACC1
20 Feb 2020
Severe Paediatric Disorders v0.9
NAA10
Louise Daugherty Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10
20 Feb 2020
Severe Paediatric Disorders v0.9
MYRF
Louise Daugherty Added phenotypes Cardiac-urogenital syndrome, 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 for gene: MYRF
20 Feb 2020
Severe Paediatric Disorders v0.9
MYOT
Louise Daugherty Added phenotypes Myopathy, spheroid body, 182920; Myopathy, myofibrillar, 3, 609200 for gene: MYOT
20 Feb 2020
Severe Paediatric Disorders v0.9
MYO6
Louise Daugherty Added phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346; Deafness, autosomal dominant 22, 606346; Deafness, autosomal recessive 37, 607821 for gene: MYO6
20 Feb 2020
Severe Paediatric Disorders v0.9
MYO18B
Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
20 Feb 2020
Severe Paediatric Disorders v0.9
MYL1
Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH9
Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH7
Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH6
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH3
Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH2
Louise Daugherty Added phenotypes Proximal myopathy and ophthalmoplegia, 605637 for gene: MYH2
20 Feb 2020
Severe Paediatric Disorders v0.9
MYH14
Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
20 Feb 2020
Severe Paediatric Disorders v0.9
MYBPC1
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
20 Feb 2020
Severe Paediatric Disorders v0.9
MUSK
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
20 Feb 2020
Severe Paediatric Disorders v0.9
MTOR
Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
20 Feb 2020
Severe Paediatric Disorders v0.9
MTMR2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
20 Feb 2020
Severe Paediatric Disorders v0.9
MTM1
Louise Daugherty Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
20 Feb 2020
Severe Paediatric Disorders v0.9
MTHFR
Louise Daugherty Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
20 Feb 2020
Severe Paediatric Disorders v0.9
MTHFD1
Louise Daugherty Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TY
Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TW
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TW
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TV
Louise Daugherty Added phenotypes ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS; NEONATAL DEATH for gene: MT-TV
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TS1
Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TR
Louise Daugherty Added phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TR
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TQ
Louise Daugherty Added phenotypes MYOPATHY; SENSORINEURAL DEAFNESS AND MIGRAINE; MELAS SYNDROME for gene: MT-TQ
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TP
Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TN
Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TM
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL for gene: MT-TM
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TL2
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL; CARDIOMYOPATHY, MITOCHONDRIAL for gene: MT-TL2
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TK
Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TI
Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TH
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TG
Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TF
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TE
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TE
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TD
Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-TA
Louise Daugherty Added phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY; MITOCHONDRIAL MYOPATHY for gene: MT-TA
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-RNR1
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-ND6
Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-CYB
Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-CO1
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
20 Feb 2020
Severe Paediatric Disorders v0.9
MT-ATP8
Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
20 Feb 2020
Severe Paediatric Disorders v0.9
MSX2
Louise Daugherty Added phenotypes Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500 for gene: MSX2
20 Feb 2020
Severe Paediatric Disorders v0.9
MSX1
Louise Daugherty Added phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874 for gene: MSX1
20 Feb 2020
Severe Paediatric Disorders v0.9
MSTO1
Louise Daugherty Added phenotypes Myopathy, mitochondrial, and ataxia, 617675 for gene: MSTO1
20 Feb 2020
Severe Paediatric Disorders v0.9
MPZ
Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ
20 Feb 2020
Severe Paediatric Disorders v0.9
MPV17
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
20 Feb 2020
Severe Paediatric Disorders v0.9
MPLKIP
Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
20 Feb 2020
Severe Paediatric Disorders v0.9
MPL
Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
20 Feb 2020
Severe Paediatric Disorders v0.9
MPIG6B
Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
20 Feb 2020
Severe Paediatric Disorders v0.9
MORC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 for gene: MORC2
20 Feb 2020
Severe Paediatric Disorders v0.9
MUT
Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
20 Feb 2020
Severe Paediatric Disorders v0.9
MMP2
Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
20 Feb 2020
Severe Paediatric Disorders v0.9
MMADHC
Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
20 Feb 2020
Severe Paediatric Disorders v0.9
MMACHC
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
20 Feb 2020
Severe Paediatric Disorders v0.9
MMAB
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
20 Feb 2020
Severe Paediatric Disorders v0.9
MMAA
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 for gene: MMAA
20 Feb 2020
Severe Paediatric Disorders v0.9
MLC1
Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
20 Feb 2020
Severe Paediatric Disorders v0.9
MICU1
Louise Daugherty Added phenotypes Myopathy with extrapyramidal signs, 615673 for gene: MICU1
20 Feb 2020
Severe Paediatric Disorders v0.9
MFSD8
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170 for gene: MFSD8
20 Feb 2020
Severe Paediatric Disorders v0.9
MFRP
Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
20 Feb 2020
Severe Paediatric Disorders v0.9
MFN2
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2
20 Feb 2020
Severe Paediatric Disorders v0.9
MFF
Louise Daugherty Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF
20 Feb 2020
Severe Paediatric Disorders v0.9
MEGF10
Louise Daugherty Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 for gene: MEGF10
20 Feb 2020
Severe Paediatric Disorders v0.9
MED17
Louise Daugherty Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 for gene: MED17
20 Feb 2020
Severe Paediatric Disorders v0.9
MED13L
Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L
20 Feb 2020
Severe Paediatric Disorders v0.9
MECR
Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
20 Feb 2020
Severe Paediatric Disorders v0.9
MECP2
Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
20 Feb 2020
Severe Paediatric Disorders v0.9
MECOM
Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
20 Feb 2020
Severe Paediatric Disorders v0.9
MDH2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 51, 617339 for gene: MDH2
20 Feb 2020
Severe Paediatric Disorders v0.9
MCM3AP
Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
20 Feb 2020
Severe Paediatric Disorders v0.9
MCEE
Louise Daugherty Added phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 for gene: MCEE
20 Feb 2020
Severe Paediatric Disorders v0.9
MCCC2
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 for gene: MCCC2
20 Feb 2020
Severe Paediatric Disorders v0.9
MCCC1
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 for gene: MCCC1
20 Feb 2020
Severe Paediatric Disorders v0.9
MC2R
Louise Daugherty Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 for gene: MC2R
20 Feb 2020
Severe Paediatric Disorders v0.9
MBTPS2
Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
20 Feb 2020
Severe Paediatric Disorders v0.9
MAT1A
Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
20 Feb 2020
Severe Paediatric Disorders v0.9
MAST1
Louise Daugherty Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 for gene: MAST1
20 Feb 2020
Severe Paediatric Disorders v0.9
MAPT
Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
20 Feb 2020
Severe Paediatric Disorders v0.9
MAPKBP1
Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
20 Feb 2020
Severe Paediatric Disorders v0.9
MAPK8IP3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, 618443 for gene: MAPK8IP3
20 Feb 2020
Severe Paediatric Disorders v0.9
MAP3K20
Louise Daugherty Added phenotypes Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 for gene: MAP3K20
20 Feb 2020
Severe Paediatric Disorders v0.9
MAGT1
Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
20 Feb 2020
Severe Paediatric Disorders v0.9
MACF1
Louise Daugherty Added phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 for gene: MACF1
20 Feb 2020
Severe Paediatric Disorders v0.9
MAB21L2
Louise Daugherty Added phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 for gene: MAB21L2
20 Feb 2020
Severe Paediatric Disorders v0.9
LTBP2
Louise Daugherty Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2
20 Feb 2020
Severe Paediatric Disorders v0.9
LRSAM1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, 614436 for gene: LRSAM1
20 Feb 2020
Severe Paediatric Disorders v0.9
LRP5
Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
20 Feb 2020
Severe Paediatric Disorders v0.9
LRP4
Louise Daugherty Added phenotypes Cenani-Lenz syndactyly syndrome, 212780; ?Myasthenic syndrome, congenital, 17, 616304; Sclerosteosis 2, 614305 for gene: LRP4
20 Feb 2020
Severe Paediatric Disorders v0.9
LRBA
Louise Daugherty Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 for gene: LRBA
20 Feb 2020
Severe Paediatric Disorders v0.9
LNPK
Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 for gene: LNPK
20 Feb 2020
Severe Paediatric Disorders v0.9
LMOD3
Louise Daugherty Added phenotypes Nemaline myopathy 10, 616165 for gene: LMOD3
20 Feb 2020
Severe Paediatric Disorders v0.9
LMNA
Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
20 Feb 2020
Severe Paediatric Disorders v0.9
LMBRD1
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
20 Feb 2020
Severe Paediatric Disorders v0.9
LMBR1
Louise Daugherty Added phenotypes Syndactyly, type IV, 186200; Hypoplastic or aplastic tibia with polydactyly, 188740; Triphalangeal thumb, type I, 174500; Triphalangeal thumb-polysyndactyly syndrome, 174500; Polydactyly, preaxial type II, 174500; Laurin-Sandrow syndrome, 135750; Acheiropody, 200500 for gene: LMBR1
20 Feb 2020
Severe Paediatric Disorders v0.9
LITAF
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 for gene: LITAF
20 Feb 2020
Severe Paediatric Disorders v0.9
LIPT2
Louise Daugherty Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
20 Feb 2020
Severe Paediatric Disorders v0.9
LGI4
Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
20 Feb 2020
Severe Paediatric Disorders v0.9
LEMD3
Louise Daugherty Added phenotypes Buschke-Ollendorff syndrome, 166700; Osteopoikilosis with or without melorheostosis, 166700 for gene: LEMD3
20 Feb 2020
Severe Paediatric Disorders v0.9
LDB3
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
20 Feb 2020
Severe Paediatric Disorders v0.9
LBR
Louise Daugherty Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies, 618019; Pelger-Huet anomaly, 169400; ?Reynolds syndrome, 613471; Greenberg skeletal dysplasia, 215140 for gene: LBR
20 Feb 2020
Severe Paediatric Disorders v0.9
LARGE1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 for gene: LARGE1
20 Feb 2020
Severe Paediatric Disorders v0.9
LAMB2
Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
20 Feb 2020
Severe Paediatric Disorders v0.9
L1CAM
Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
20 Feb 2020
Severe Paediatric Disorders v0.9
KRT14
Louise Daugherty Added phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Koebner type, 131900; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, recessive 1, 601001 for gene: KRT14
20 Feb 2020
Severe Paediatric Disorders v0.9
KRIT1
Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1
20 Feb 2020
Severe Paediatric Disorders v0.9
KLHL41
Louise Daugherty Added phenotypes Nemaline myopathy 9, 615731 for gene: KLHL41
20 Feb 2020
Severe Paediatric Disorders v0.9
KLHL40
Louise Daugherty Added phenotypes Nemaline myopathy 8, autosomal recessive, 615348 for gene: KLHL40
20 Feb 2020
Severe Paediatric Disorders v0.9
KLF1
Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF7
Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF5C
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 for gene: KIF5C
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF2A
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF23
Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF22
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF1A
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
20 Feb 2020
Severe Paediatric Disorders v0.9
KIF11
Louise Daugherty Added phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 for gene: KIF11
20 Feb 2020
Severe Paediatric Disorders v0.9
KIAA0586
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
20 Feb 2020
Severe Paediatric Disorders v0.9
KDSR
Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
20 Feb 2020
Severe Paediatric Disorders v0.9
KCTD7
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
20 Feb 2020
Severe Paediatric Disorders v0.9
KCTD3
Louise Daugherty Added phenotypes Developmental epileptic encephalopathy for gene: KCTD3
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNT1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 14, 614959; Epilepsy, nocturnal frontal lobe, 5, 615005 for gene: KCNT1
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNQ2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 for gene: KCNQ2
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNMA1
Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNK4
Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNJ11
Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNB1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 26, 616056 for gene: KCNB1
20 Feb 2020
Severe Paediatric Disorders v0.9
KCNA2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 32, 616366 for gene: KCNA2
20 Feb 2020
Severe Paediatric Disorders v0.9
KBTBD13
Louise Daugherty Added phenotypes Nemaline myopathy 6, autosomal dominant, 609273 for gene: KBTBD13
20 Feb 2020
Severe Paediatric Disorders v0.9
KATNB1
Louise Daugherty Added phenotypes Lissencephaly 6, with microcephaly, 616212 for gene: KATNB1
20 Feb 2020
Severe Paediatric Disorders v0.9
KARS
Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
20 Feb 2020
Severe Paediatric Disorders v0.9
JUP
Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 12, 611528; Naxos disease, 601214 for gene: JUP
20 Feb 2020
Severe Paediatric Disorders v0.9
JPH2
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 17, 613873 for gene: JPH2
20 Feb 2020
Severe Paediatric Disorders v0.9
JAM3
Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
20 Feb 2020
Severe Paediatric Disorders v0.9
ITPA
Louise Daugherty Added phenotypes [Inosine triphosphatase deficiency], 613850; Epileptic encephalopathy, early infantile, 35, 616647 for gene: ITPA
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGB4
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGB3
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGA6
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
20 Feb 2020
Severe Paediatric Disorders v0.9
ITGA2B
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
20 Feb 2020
Severe Paediatric Disorders v0.9
ITCH
Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
20 Feb 2020
Severe Paediatric Disorders v0.9
ISCU
Louise Daugherty Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
20 Feb 2020
Severe Paediatric Disorders v0.9
IRF2BPL
Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
20 Feb 2020
Severe Paediatric Disorders v0.9
INVS
Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
20 Feb 2020
Severe Paediatric Disorders v0.9
INTU
Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
20 Feb 2020
Severe Paediatric Disorders v0.9
INTS1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
20 Feb 2020
Severe Paediatric Disorders v0.9
INSR
Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
20 Feb 2020
Severe Paediatric Disorders v0.9
INPP5K
Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K
20 Feb 2020
Severe Paediatric Disorders v0.9
INF2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
20 Feb 2020
Severe Paediatric Disorders v0.9
IMPAD1
Louise Daugherty Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 for gene: IMPAD1
20 Feb 2020
Severe Paediatric Disorders v0.9
IL2RA
Louise Daugherty Added phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 for gene: IL2RA
20 Feb 2020
Severe Paediatric Disorders v0.9
IGSF1
Louise Daugherty Added phenotypes Hypothyroidism, central, and testicular enlargement, 300888 for gene: IGSF1
20 Feb 2020
Severe Paediatric Disorders v0.9
IGHMBP2
Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 for gene: IGHMBP2
20 Feb 2020
Severe Paediatric Disorders v0.9
IGF2
Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
20 Feb 2020
Severe Paediatric Disorders v0.9
IGF1R
Louise Daugherty Added phenotypes Insulin-like growth factor I, resistance to, 270450 for gene: IGF1R
20 Feb 2020
Severe Paediatric Disorders v0.9
IGF1
Louise Daugherty Added phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 for gene: IGF1
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT81
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT80
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT52
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT43
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT172
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
20 Feb 2020
Severe Paediatric Disorders v0.9
IFT140
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
20 Feb 2020
Severe Paediatric Disorders v0.9
IARS2
Louise Daugherty Added phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 for gene: IARS2
20 Feb 2020
Severe Paediatric Disorders v0.9
IARS
Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
20 Feb 2020
Severe Paediatric Disorders v0.9
HYLS1
Louise Daugherty Added phenotypes Hydrolethalus syndrome, 236680 for gene: HYLS1
20 Feb 2020
Severe Paediatric Disorders v0.9
HTRA2
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VIII, 617248 for gene: HTRA2
20 Feb 2020
Severe Paediatric Disorders v0.9
HTRA1
Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
20 Feb 2020
Severe Paediatric Disorders v0.9
HSPB8
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8
20 Feb 2020
Severe Paediatric Disorders v0.9
HSPB1
Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot-Marie-Tooth disease, axonal, type 2F, 606595 for gene: HSPB1
20 Feb 2020
Severe Paediatric Disorders v0.9
HSD3B7
Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 1, 607765 for gene: HSD3B7
20 Feb 2020
Severe Paediatric Disorders v0.9
HSD17B3
Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
20 Feb 2020
Severe Paediatric Disorders v0.9
HRAS
Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
20 Feb 2020
Severe Paediatric Disorders v0.9
HR
Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
20 Feb 2020
Severe Paediatric Disorders v0.9
HPGD
Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
20 Feb 2020
Severe Paediatric Disorders v0.9
HOXA11
Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
20 Feb 2020
Severe Paediatric Disorders v0.9
HOXA1
Louise Daugherty Added phenotypes Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536 for gene: HOXA1
20 Feb 2020
Severe Paediatric Disorders v0.9
HNRNPU
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 54, 617391 for gene: HNRNPU
20 Feb 2020
Severe Paediatric Disorders v0.9
HNF4A
Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
20 Feb 2020
Severe Paediatric Disorders v0.9
HMGCS2
Louise Daugherty Added phenotypes HMG-CoA synthase-2 deficiency, 605911 for gene: HMGCS2
20 Feb 2020
Severe Paediatric Disorders v0.9
HMBS
Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
20 Feb 2020
Severe Paediatric Disorders v0.9
HLCS
Louise Daugherty Added phenotypes Holocarboxylase synthetase deficiency, 253270 for gene: HLCS
20 Feb 2020
Severe Paediatric Disorders v0.9
HK1
Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1
20 Feb 2020
Severe Paediatric Disorders v0.9
HINT1
Louise Daugherty Added phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 for gene: HINT1
20 Feb 2020
Severe Paediatric Disorders v0.9
HESX1
Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 5, 182230; Growth hormone deficiency with pituitary anomalies, 182230; Septooptic dysplasia, 182230 for gene: HESX1
20 Feb 2020
Severe Paediatric Disorders v0.9
HEPACAM
Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
20 Feb 2020
Severe Paediatric Disorders v0.9
HECW2
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 for gene: HECW2
20 Feb 2020
Severe Paediatric Disorders v0.9
HCN1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 24, 615871; Generalized epilepsy with febrile seizures plus, type 10, 618482 for gene: HCN1
20 Feb 2020
Severe Paediatric Disorders v0.9
HCFC1
Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
20 Feb 2020
Severe Paediatric Disorders v0.9
HCCS
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
20 Feb 2020
Severe Paediatric Disorders v0.9
HBB
Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
20 Feb 2020
Severe Paediatric Disorders v0.9
HBA2
Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
20 Feb 2020
Severe Paediatric Disorders v0.9
HBA1
Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
20 Feb 2020
Severe Paediatric Disorders v0.9
HACE1
Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
20 Feb 2020
Severe Paediatric Disorders v0.9
H19
Louise Daugherty Added phenotypes Silver-Russell syndrome, 180860; Wilms tumor 2, 194071; Beckwith-Wiedemann syndrome, 130650 for gene: H19
20 Feb 2020
Severe Paediatric Disorders v0.9
GYG1
Louise Daugherty Added phenotypes Polyglucosan body myopathy 2, 616199; ?Glycogen storage disease XV, 613507 for gene: GYG1
20 Feb 2020
Severe Paediatric Disorders v0.9
GTF2H5
Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
20 Feb 2020
Severe Paediatric Disorders v0.9
GSS
Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130 for gene: GSS
20 Feb 2020
Severe Paediatric Disorders v0.9
GRN
Louise Daugherty Added phenotypes Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 for gene: GRN
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN2D
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 46, 617162 for gene: GRIN2D
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN2B
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 27, 616139; Mental retardation, autosomal dominant 6, 613970 for gene: GRIN2B
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN2A
Louise Daugherty Added phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 for gene: GRIN2A
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIN1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 for gene: GRIN1
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIA4
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 for gene: GRIA4
20 Feb 2020
Severe Paediatric Disorders v0.9
GRIA2
Louise Daugherty Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2
20 Feb 2020
Severe Paediatric Disorders v0.9
GPAA1
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GNMT
Louise Daugherty Added phenotypes Glycine N-methyltransferase deficiency, 606664 for gene: GNMT
20 Feb 2020
Severe Paediatric Disorders v0.9
GNE
Louise Daugherty Added phenotypes Sialuria, 269921; Nonaka myopathy, 605820 for gene: GNE
20 Feb 2020
Severe Paediatric Disorders v0.9
GNB5
Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 for gene: GNB5
20 Feb 2020
Severe Paediatric Disorders v0.9
GNAS
Louise Daugherty Added phenotypes Pseudopseudohypoparathyroidism, 612463; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ic, 612462; ACTH-independent macronodular adrenal hyperplasia, 219080; Pseudohypoparathyroidism Ib, 603233 for gene: GNAS
20 Feb 2020
Severe Paediatric Disorders v0.9
GNAO1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 17, 615473; Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
20 Feb 2020
Severe Paediatric Disorders v0.9
GMPPB
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB
20 Feb 2020
Severe Paediatric Disorders v0.9
GLRX5
Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
20 Feb 2020
Severe Paediatric Disorders v0.9
GLIS3
Louise Daugherty Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 for gene: GLIS3
20 Feb 2020
Severe Paediatric Disorders v0.9
GLE1
Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
20 Feb 2020
Severe Paediatric Disorders v0.9
GLDN
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
20 Feb 2020
Severe Paediatric Disorders v0.9
GLDC
Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: GLDC
20 Feb 2020
Severe Paediatric Disorders v0.9
GJB3
Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
20 Feb 2020
Severe Paediatric Disorders v0.9
GJB2
Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
20 Feb 2020
Severe Paediatric Disorders v0.9
GJB1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
20 Feb 2020
Severe Paediatric Disorders v0.9
GJA1
Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GHRHR
Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
20 Feb 2020
Severe Paediatric Disorders v0.9
GHR
Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
20 Feb 2020
Severe Paediatric Disorders v0.9
GH1
Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
20 Feb 2020
Severe Paediatric Disorders v0.9
GGCX
Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
20 Feb 2020
Severe Paediatric Disorders v0.9
GFPT1
Louise Daugherty Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
20 Feb 2020
Severe Paediatric Disorders v0.9
GFER
Louise Daugherty Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 for gene: GFER
20 Feb 2020
Severe Paediatric Disorders v0.9
GDF6
Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
20 Feb 2020
Severe Paediatric Disorders v0.9
GDF5
Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
20 Feb 2020
Severe Paediatric Disorders v0.9
GDAP1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 for gene: GDAP1
20 Feb 2020
Severe Paediatric Disorders v0.9
GCLC
Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 for gene: GCLC
20 Feb 2020
Severe Paediatric Disorders v0.9
GCH1
Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
20 Feb 2020
Severe Paediatric Disorders v0.9
GBA
Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
20 Feb 2020
Severe Paediatric Disorders v0.9
GATA4
Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; ?Testicular anomalies with or without congenital heart disease, 615542; Atrioventricular septal defect 4, 614430; Ventricular septal defect 1, 614429 for gene: GATA4
20 Feb 2020
Severe Paediatric Disorders v0.9
GATA3
Louise Daugherty Added phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3
20 Feb 2020
Severe Paediatric Disorders v0.9
GATA1
Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GARS
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS
20 Feb 2020
Severe Paediatric Disorders v0.9
GAN
Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
20 Feb 2020
Severe Paediatric Disorders v0.9
GALK1
Louise Daugherty Added phenotypes Galactokinase deficiency with cataracts, 230200 for gene: GALK1
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRG2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 74, 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681; Febrile seizures, familial, 8, 607681 for gene: GABRG2
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRB3
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 43, 617113 for gene: GABRB3
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRB2
Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 for gene: GABRB2
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRA2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 78, 618557 for gene: GABRA2
20 Feb 2020
Severe Paediatric Disorders v0.9
GABRA1
Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
20 Feb 2020
Severe Paediatric Disorders v0.9
GABBR2
Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
20 Feb 2020
Severe Paediatric Disorders v0.9
FYB1
Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
20 Feb 2020
Severe Paediatric Disorders v0.9
FXN
Louise Daugherty Added phenotypes Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 for gene: FXN
20 Feb 2020
Severe Paediatric Disorders v0.9
FUT8
Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
20 Feb 2020
Severe Paediatric Disorders v0.9
FTL
Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
20 Feb 2020
Severe Paediatric Disorders v0.9
FRRS1L
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
20 Feb 2020
Severe Paediatric Disorders v0.9
FREM2
Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
20 Feb 2020
Severe Paediatric Disorders v0.9
FREM1
Louise Daugherty Added phenotypes Trigonocephaly 2, 614485; Manitoba oculotrichoanal syndrome, 248450; Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXP3
Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXP1
Louise Daugherty Added phenotypes Mental retardation with language impairment and with or without autistic features, 613670 for gene: FOXP1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXF1
Louise Daugherty Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 for gene: FOXF1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXE1
Louise Daugherty Added phenotypes Bamforth-Lazarus syndrome, 241850 for gene: FOXE1
20 Feb 2020
Severe Paediatric Disorders v0.9
FOXC2
Louise Daugherty Added phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400 for gene: FOXC2
20 Feb 2020
Severe Paediatric Disorders v0.9
FN1
Louise Daugherty Added phenotypes Plasma fibronectin deficiency, 614101; Glomerulopathy with fibronectin deposits 2, 601894; Spondylometaphyseal dysplasia, corner fracture type, 184255 for gene: FN1
20 Feb 2020
Severe Paediatric Disorders v0.9
FMO3
Louise Daugherty Added phenotypes Trimethylaminuria, 602079 for gene: FMO3
20 Feb 2020
Severe Paediatric Disorders v0.9
FLVCR2
Louise Daugherty Added phenotypes Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 for gene: FLVCR2
20 Feb 2020
Severe Paediatric Disorders v0.9
FLVCR1
Louise Daugherty Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
20 Feb 2020
Severe Paediatric Disorders v0.9
FLNC
Louise Daugherty Added phenotypes Cardiomyopathy, familial hypertrophic, 26; Myopathy, myofibrillar, 5, 609524; Myopathy, distal, 4, 614065; Cardiomyopathy, familial restrictive 5, 617047 for gene: FLNC
20 Feb 2020
Severe Paediatric Disorders v0.9
FLCN
Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
20 Feb 2020
Severe Paediatric Disorders v0.9
FLAD1
Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
20 Feb 2020
Severe Paediatric Disorders v0.9
FKTN
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
20 Feb 2020
Severe Paediatric Disorders v0.9
FKRP
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 for gene: FKRP
20 Feb 2020
Severe Paediatric Disorders v0.9
FIG4
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
20 Feb 2020
Severe Paediatric Disorders v0.9
FHL1
Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
20 Feb 2020
Severe Paediatric Disorders v0.9
FGFR3
Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
20 Feb 2020
Severe Paediatric Disorders v0.9
FGFR2
Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
20 Feb 2020
Severe Paediatric Disorders v0.9
FGFR1
Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
20 Feb 2020
Severe Paediatric Disorders v0.9
FGF8
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
20 Feb 2020
Severe Paediatric Disorders v0.9
FGF3
Louise Daugherty Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 for gene: FGF3
20 Feb 2020
Severe Paediatric Disorders v0.9
FGF12
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
20 Feb 2020
Severe Paediatric Disorders v0.9
FGD4
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 for gene: FGD4
20 Feb 2020
Severe Paediatric Disorders v0.9
FECH
Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
20 Feb 2020
Severe Paediatric Disorders v0.9
FDXR
Louise Daugherty Added phenotypes Auditory neuropathy and optic atrophy, 617717 for gene: FDXR
20 Feb 2020
Severe Paediatric Disorders v0.9
FDX2
Louise Daugherty Added phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 for gene: FDX2
20 Feb 2020
Severe Paediatric Disorders v0.9
FBXO11
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
20 Feb 2020
Severe Paediatric Disorders v0.9
FBXL4
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
20 Feb 2020
Severe Paediatric Disorders v0.9
FBXL3
Louise Daugherty Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3
20 Feb 2020
Severe Paediatric Disorders v0.9
FBLN5
Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
20 Feb 2020
Severe Paediatric Disorders v0.9
FAM111B
Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
20 Feb 2020
Severe Paediatric Disorders v0.9
FADD
Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
20 Feb 2020
Severe Paediatric Disorders v0.9
F9
Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
20 Feb 2020
Severe Paediatric Disorders v0.9
F2
Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
20 Feb 2020
Severe Paediatric Disorders v0.9
EYA4
Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
20 Feb 2020
Severe Paediatric Disorders v0.9
EYA1
Louise Daugherty Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1
20 Feb 2020
Severe Paediatric Disorders v0.9
EXTL3
Louise Daugherty Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 for gene: EXTL3
20 Feb 2020
Severe Paediatric Disorders v0.9
ETV6
Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
20 Feb 2020
Severe Paediatric Disorders v0.9
ETHE1
Louise Daugherty Added phenotypes Ethylmalonic encephalopathy, 602473 for gene: ETHE1
20 Feb 2020
Severe Paediatric Disorders v0.9
ERCC3
Louise Daugherty Added phenotypes Trichothiodystrophy 2, photosensitive, 616390; Xeroderma pigmentosum, group B, 610651 for gene: ERCC3
20 Feb 2020
Severe Paediatric Disorders v0.9
ERCC2
Louise Daugherty Added phenotypes ?Cerebrooculofacioskeletal syndrome 2, 610756; Trichothiodystrophy 1, photosensitive, 601675; Xeroderma pigmentosum, group D, 278730 for gene: ERCC2
19 Feb 2020
Severe Paediatric Disorders v0.9
ELOVL4
Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
19 Feb 2020
Severe Paediatric Disorders v0.9
EIF4A3
Louise Daugherty Added phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 for gene: EIF4A3
19 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B5
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
19 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B4
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
19 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B3
Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
19 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B2
Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
19 Feb 2020
Severe Paediatric Disorders v0.9
EIF2B1
Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
19 Feb 2020
Severe Paediatric Disorders v0.9
EGR2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1D, 607678; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 1, 605253 for gene: EGR2
19 Feb 2020
Severe Paediatric Disorders v0.9
EEF1A2
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 38, 616393; Epileptic encephalopathy, early infantile, 33, 616409 for gene: EEF1A2
19 Feb 2020
Severe Paediatric Disorders v0.9
EDNRA
Louise Daugherty Added phenotypes Mandibulofacial dysostosis with alopecia, 616367 for gene: EDNRA
19 Feb 2020
Severe Paediatric Disorders v0.9
EDARADD
Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
19 Feb 2020
Severe Paediatric Disorders v0.9
EDAR
Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
19 Feb 2020
Severe Paediatric Disorders v0.9
EDA
Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
19 Feb 2020
Severe Paediatric Disorders v0.9
ECEL1
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
19 Feb 2020
Severe Paediatric Disorders v0.9
DYSF
Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
19 Feb 2020
Severe Paediatric Disorders v0.9
DYNC2LI1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
19 Feb 2020
Severe Paediatric Disorders v0.9
DYNC2H1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
19 Feb 2020
Severe Paediatric Disorders v0.9
DYNC1H1
Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot-Marie-Tooth disease, axonal, type 20, 614228 for gene: DYNC1H1
19 Feb 2020
Severe Paediatric Disorders v0.9
DYM
Louise Daugherty Added phenotypes Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326 for gene: DYM
19 Feb 2020
Severe Paediatric Disorders v0.9
DUOX2
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
19 Feb 2020
Severe Paediatric Disorders v0.9
DSPP
Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
19 Feb 2020
Severe Paediatric Disorders v0.9
DSP
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
19 Feb 2020
Severe Paediatric Disorders v0.9
DPM3
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
19 Feb 2020
Severe Paediatric Disorders v0.9
DPH1
Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
19 Feb 2020
Severe Paediatric Disorders v0.9
DPAGT1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
19 Feb 2020
Severe Paediatric Disorders v0.9
DOK7
Louise Daugherty Added phenotypes ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 for gene: DOK7
19 Feb 2020
Severe Paediatric Disorders v0.9
DOCK7
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 23, 615859 for gene: DOCK7
19 Feb 2020
Severe Paediatric Disorders v0.9
DOCK3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
19 Feb 2020
Severe Paediatric Disorders v0.9
DNMT1
Louise Daugherty Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116 for gene: DNMT1
19 Feb 2020
Severe Paediatric Disorders v0.9
DNM2
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
19 Feb 2020
Severe Paediatric Disorders v0.9
DNM1L
Louise Daugherty Added phenotypes Optic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 for gene: DNM1L
19 Feb 2020
Severe Paediatric Disorders v0.9
DNM1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 31, 616346 for gene: DNM1
19 Feb 2020
Severe Paediatric Disorders v0.9
DNASE2
Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
19 Feb 2020
Severe Paediatric Disorders v0.9
DNAJC19
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type V, 610198 for gene: DNAJC19
19 Feb 2020
Severe Paediatric Disorders v0.9
DNAJB11
Louise Daugherty Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 for gene: DNAJB11
19 Feb 2020
Severe Paediatric Disorders v0.9
DNAI1
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
19 Feb 2020
Severe Paediatric Disorders v0.9
DNAH5
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
19 Feb 2020
Severe Paediatric Disorders v0.9
DNAH11
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
19 Feb 2020
Severe Paediatric Disorders v0.9
DNA2
Louise Daugherty Added phenotypes ?Seckel syndrome 8, 615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 for gene: DNA2
19 Feb 2020
Severe Paediatric Disorders v0.9
DMD
Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
19 Feb 2020
Severe Paediatric Disorders v0.9
DLX5
Louise Daugherty Added phenotypes ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 for gene: DLX5
19 Feb 2020
Severe Paediatric Disorders v0.9
DLG4
Louise Daugherty Added phenotypes Intellectual disability with marfanoid features for gene: DLG4
19 Feb 2020
Severe Paediatric Disorders v0.9
DHX30
Louise Daugherty Added phenotypes Neurodevelopmental disorder with severe motor impairment and absent language, 617804 for gene: DHX30
19 Feb 2020
Severe Paediatric Disorders v0.9
DHTKD1
Louise Daugherty Added phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 for gene: DHTKD1
19 Feb 2020
Severe Paediatric Disorders v0.9
DHPS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 for gene: DHPS
19 Feb 2020
Severe Paediatric Disorders v0.9
DHDDS
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
19 Feb 2020
Severe Paediatric Disorders v0.9
DHCR7
Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
19 Feb 2020
Severe Paediatric Disorders v0.9
DGUOK
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK
19 Feb 2020
Severe Paediatric Disorders v0.9
DES
Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
19 Feb 2020
Severe Paediatric Disorders v0.9
DEPDC5
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 1, 604364 for gene: DEPDC5
19 Feb 2020
Severe Paediatric Disorders v0.9
DENND5A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 49, 617281 for gene: DENND5A
19 Feb 2020
Severe Paediatric Disorders v0.9
DCTN1
Louise Daugherty Added phenotypes Perry syndrome, 168605; Neuropathy, distal hereditary motor, type VIIB, 607641 for gene: DCTN1
19 Feb 2020
Severe Paediatric Disorders v0.9
DCLRE1C
Louise Daugherty Added phenotypes Omenn syndrome, 603554; Severe combined immunodeficiency, Athabascan type, 602450 for gene: DCLRE1C
19 Feb 2020
Severe Paediatric Disorders v0.9
DCDC2
Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
19 Feb 2020
Severe Paediatric Disorders v0.9
DCC
Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC
19 Feb 2020
Severe Paediatric Disorders v0.9
DBH
Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
19 Feb 2020
Severe Paediatric Disorders v0.9
DARS2
Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
19 Feb 2020
Severe Paediatric Disorders v0.9
DARS
Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
19 Feb 2020
Severe Paediatric Disorders v0.9
DAG1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 for gene: DAG1
19 Feb 2020
Severe Paediatric Disorders v0.9
CYP7B1
Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
19 Feb 2020
Severe Paediatric Disorders v0.9
CYP4F22
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
19 Feb 2020
Severe Paediatric Disorders v0.9
CYP27A1
Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
19 Feb 2020
Severe Paediatric Disorders v0.9
CYP11A1
Louise Daugherty Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 for gene: CYP11A1
19 Feb 2020
Severe Paediatric Disorders v0.9
CYFIP2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2
19 Feb 2020
Severe Paediatric Disorders v0.9
CYCS
Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
19 Feb 2020
Severe Paediatric Disorders v0.9
CYB5R3
Louise Daugherty Added phenotypes Methemoglobinemia, type I, 250800; Methemoglobinemia, type II, 250800 for gene: CYB5R3
19 Feb 2020
Severe Paediatric Disorders v0.9
CXCR4
Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
19 Feb 2020
Severe Paediatric Disorders v0.9
CWC27
Louise Daugherty Added phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 for gene: CWC27
19 Feb 2020
Severe Paediatric Disorders v0.9
CUX2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 67, 618141 for gene: CUX2
19 Feb 2020
Severe Paediatric Disorders v0.9
CUX1
Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
19 Feb 2020
Severe Paediatric Disorders v0.9
CTNS
Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
19 Feb 2020
Severe Paediatric Disorders v0.9
CTNNB1
Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
19 Feb 2020
Severe Paediatric Disorders v0.9
CTNNA2
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 9, 618174 for gene: CTNNA2
19 Feb 2020
Severe Paediatric Disorders v0.9
CTH
Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
19 Feb 2020
Severe Paediatric Disorders v0.9
CTDP1
Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
19 Feb 2020
Severe Paediatric Disorders v0.9
CTC1
Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
19 Feb 2020
Severe Paediatric Disorders v0.9
CTBP1
Louise Daugherty Added phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 for gene: CTBP1
19 Feb 2020
Severe Paediatric Disorders v0.9
CSNK2B
Louise Daugherty Added phenotypes Intellectual disability with or without myoclonic epilepsy. for gene: CSNK2B
19 Feb 2020
Severe Paediatric Disorders v0.9
CSF1R
Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
19 Feb 2020
Severe Paediatric Disorders v0.9
CRYAB
Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
19 Feb 2020
Severe Paediatric Disorders v0.9
ISPD
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD
19 Feb 2020
Severe Paediatric Disorders v0.9
CRIPT
Louise Daugherty Added phenotypes Short stature with microcephaly and distinctive facies, 615789 for gene: CRIPT
19 Feb 2020
Severe Paediatric Disorders v0.9
CRB2
Louise Daugherty Added phenotypes Focal segmental glomerulosclerosis 9, 616220; Ventriculomegaly with cystic kidney disease, 219730 for gene: CRB2
19 Feb 2020
Severe Paediatric Disorders v0.9
CRADD
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 for gene: CRADD
19 Feb 2020
Severe Paediatric Disorders v0.9
CPT2
Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
19 Feb 2020
Severe Paediatric Disorders v0.9
CPS1
Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
19 Feb 2020
Severe Paediatric Disorders v0.9
COX7B
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
19 Feb 2020
Severe Paediatric Disorders v0.9
COX6A1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COX15
Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
19 Feb 2020
Severe Paediatric Disorders v0.9
COLQ
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
19 Feb 2020
Severe Paediatric Disorders v0.9
COL9A3
Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 for gene: COL9A3
19 Feb 2020
Severe Paediatric Disorders v0.9
COL7A1
Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL6A3
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090; Dystonia 27, 616411 for gene: COL6A3
19 Feb 2020
Severe Paediatric Disorders v0.9
COL6A2
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; ?Myosclerosis, congenital, 255600; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A2
19 Feb 2020
Severe Paediatric Disorders v0.9
COL6A1
Louise Daugherty Added phenotypes Bethlem myopathy 1, 158810; Ullrich congenital muscular dystrophy 1, 254090 for gene: COL6A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL4A1
Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL3A1
Louise Daugherty Added phenotypes Polymicrogyria with or without vascular-type EDS, 618343; Ehlers-Danlos syndrome, vascular type, 130050 for gene: COL3A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL2A1
Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL1A2
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
19 Feb 2020
Severe Paediatric Disorders v0.9
COL1A1
Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL17A1
Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL13A1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 19, 616720 for gene: COL13A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COL12A1
Louise Daugherty Added phenotypes ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 for gene: COL12A1
19 Feb 2020
Severe Paediatric Disorders v0.9
COASY
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
19 Feb 2020
Severe Paediatric Disorders v0.9
COA7
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 for gene: COA7
19 Feb 2020
Severe Paediatric Disorders v0.9
COA6
Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
19 Feb 2020
Severe Paediatric Disorders v0.9
CNTNAP1
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
19 Feb 2020
Severe Paediatric Disorders v0.9
CNPY3
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 60, 617929 for gene: CNPY3
19 Feb 2020
Severe Paediatric Disorders v0.9
CNOT1
Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
19 Feb 2020
Severe Paediatric Disorders v0.9
CLPB
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
19 Feb 2020
Severe Paediatric Disorders v0.9
CLN8
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
19 Feb 2020
Severe Paediatric Disorders v0.9
CLDN19
Louise Daugherty Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
19 Feb 2020
Severe Paediatric Disorders v0.9
CLDN1
Louise Daugherty Added phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 for gene: CLDN1
19 Feb 2020
Severe Paediatric Disorders v0.9
CLCN5
Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
19 Feb 2020
Severe Paediatric Disorders v0.9
CLCN2
Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651; Hyperaldosteronism, familial, type II, 605635; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 for gene: CLCN2
19 Feb 2020
Severe Paediatric Disorders v0.9
CHST3
Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 for gene: CHST3
19 Feb 2020
Severe Paediatric Disorders v0.9
CHRNG
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
19 Feb 2020
Severe Paediatric Disorders v0.9
CHRNE
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
19 Feb 2020
Severe Paediatric Disorders v0.9
CHRND
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
19 Feb 2020
Severe Paediatric Disorders v0.9
CHRNB1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
19 Feb 2020
Severe Paediatric Disorders v0.9
CHRNA1
Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
19 Feb 2020
Severe Paediatric Disorders v0.9
CHD8
Louise Daugherty Added phenotypes autism susceptibility; Overgrowth with Intellectual disability for gene: CHD8
19 Feb 2020
Severe Paediatric Disorders v0.9
CHD7
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800 for gene: CHD7
19 Feb 2020
Severe Paediatric Disorders v0.9
CHD2
Louise Daugherty Added phenotypes Epileptic encephalopathy, childhood-onset, 615369 for gene: CHD2
19 Feb 2020
Severe Paediatric Disorders v0.9
CHCHD10
Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
19 Feb 2020
Severe Paediatric Disorders v0.9
CHAT
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 for gene: CHAT
19 Feb 2020
Severe Paediatric Disorders v0.9
CFTR
Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
19 Feb 2020
Severe Paediatric Disorders v0.9
CFL2
Louise Daugherty Added phenotypes Nemaline myopathy 7, autosomal recessive, 610687 for gene: CFL2
19 Feb 2020
Severe Paediatric Disorders v0.9
CFHR5
Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
19 Feb 2020
Severe Paediatric Disorders v0.9
C21orf2
Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
19 Feb 2020
Severe Paediatric Disorders v0.9
CEP83
Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
19 Feb 2020
Severe Paediatric Disorders v0.9
CEP164
Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
19 Feb 2020
Severe Paediatric Disorders v0.9
CEP120
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
19 Feb 2020
Severe Paediatric Disorders v0.9
CDKN1C
Louise Daugherty Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C
19 Feb 2020
Severe Paediatric Disorders v0.9
CDKL5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5
19 Feb 2020
Severe Paediatric Disorders v0.9
CDH3
Louise Daugherty Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
19 Feb 2020
Severe Paediatric Disorders v0.9
CDAN1
Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
19 Feb 2020
Severe Paediatric Disorders v0.9
CD59
Louise Daugherty Added phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 for gene: CD59
19 Feb 2020
Severe Paediatric Disorders v0.9
CD55
Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
19 Feb 2020
Severe Paediatric Disorders v0.9
CD40LG
Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 for gene: CD40LG
19 Feb 2020
Severe Paediatric Disorders v0.9
CD40
Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 for gene: CD40
19 Feb 2020
Severe Paediatric Disorders v0.9
CCT5
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
19 Feb 2020
Severe Paediatric Disorders v0.9
WISP3
Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
19 Feb 2020
Severe Paediatric Disorders v0.9
CBS
Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
19 Feb 2020
Severe Paediatric Disorders v0.9
CBL
Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
19 Feb 2020
Severe Paediatric Disorders v0.9
CAV3
Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3
19 Feb 2020
Severe Paediatric Disorders v0.9
CASR
Louise Daugherty Added phenotypes Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, 601198 for gene: CASR
19 Feb 2020
Severe Paediatric Disorders v0.9
CASQ1
Louise Daugherty Added phenotypes Myopathy, vacuolar, with CASQ1 aggregates, 616231 for gene: CASQ1
19 Feb 2020
Severe Paediatric Disorders v0.9
CASK
Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK
19 Feb 2020
Severe Paediatric Disorders v0.9
CARD11
Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
19 Feb 2020
Severe Paediatric Disorders v0.9
CAMTA1
Louise Daugherty Added phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 for gene: CAMTA1
19 Feb 2020
Severe Paediatric Disorders v0.9
CAD
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 50, 616457 for gene: CAD
19 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1G
Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 for gene: CACNA1G
19 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1E
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 69, 618285 for gene: CACNA1E
19 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1C
Louise Daugherty Added phenotypes Brugada syndrome 3, 611875; Long QT syndrome 8, 618447; Timothy syndrome, 601005 for gene: CACNA1C
19 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 for gene: CACNA1B
19 Feb 2020
Severe Paediatric Disorders v0.9
CACNA1A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A
19 Feb 2020
Severe Paediatric Disorders v0.9
CA8
Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
19 Feb 2020
Severe Paediatric Disorders v0.9
CA2
Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 for gene: CA2
19 Feb 2020
Severe Paediatric Disorders v0.9
C19orf12
Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
19 Feb 2020
Severe Paediatric Disorders v0.9
C15orf41
Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
19 Feb 2020
Severe Paediatric Disorders v0.9
BTK
Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
19 Feb 2020
Severe Paediatric Disorders v0.9
BSND
Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
19 Feb 2020
Severe Paediatric Disorders v0.9
BSCL2
Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
19 Feb 2020
Severe Paediatric Disorders v0.9
BRPF1
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
19 Feb 2020
Severe Paediatric Disorders v0.9
BRAT1
Louise Daugherty Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 for gene: BRAT1
19 Feb 2020
Severe Paediatric Disorders v0.9
BPTF
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
19 Feb 2020
Severe Paediatric Disorders v0.9
BOLA3
Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
19 Feb 2020
Severe Paediatric Disorders v0.9
BMP4
Louise Daugherty Added phenotypes Microphthalmia, syndromic 6, 607932; Orofacial cleft 11, 600625 for gene: BMP4
19 Feb 2020
Severe Paediatric Disorders v0.9
BMP2
Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
19 Feb 2020
Severe Paediatric Disorders v0.9
BIN1
Louise Daugherty Added phenotypes Centronuclear myopathy 2, 255200 for gene: BIN1
19 Feb 2020
Severe Paediatric Disorders v0.9
BHLHA9
Louise Daugherty Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 for gene: BHLHA9
19 Feb 2020
Severe Paediatric Disorders v0.9
BCOR
Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
19 Feb 2020
Severe Paediatric Disorders v0.9
BCL11B
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
19 Feb 2020
Severe Paediatric Disorders v0.9
BAG3
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
19 Feb 2020
Severe Paediatric Disorders v0.9
B4GAT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 for gene: B4GAT1
19 Feb 2020
Severe Paediatric Disorders v0.9
B3GAT3
Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
19 Feb 2020
Severe Paediatric Disorders v0.9
B3GALT6
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6
19 Feb 2020
Severe Paediatric Disorders v0.9
B3GALNT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 for gene: B3GALNT2
19 Feb 2020
Severe Paediatric Disorders v0.9
AUH
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
19 Feb 2020
Severe Paediatric Disorders v0.9
ATRX
Louise Daugherty Added phenotypes Alpha-thalassemia/mental retardation syndrome, 301040; Mental retardation-hypotonic facies syndrome, X-linked, 309580 for gene: ATRX
19 Feb 2020
Severe Paediatric Disorders v0.9
ATP6V1B2
Louise Daugherty Added phenotypes Zimmermann-Laband syndrome 2, 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 for gene: ATP6V1B2
19 Feb 2020
Severe Paediatric Disorders v0.9
ATP6V1B1
Louise Daugherty Added phenotypes Renal tubular acidosis with deafness, 267300 for gene: ATP6V1B1
19 Feb 2020
Severe Paediatric Disorders v0.9
ATP6V1A
Louise Daugherty Added phenotypes Epileptic encephalopathy, infantile or early childhood, 3, 618012; Cutis laxa, autosomal recessive, type IID, 617403 for gene: ATP6V1A
19 Feb 2020
Severe Paediatric Disorders v0.9
ATP5D
Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 for gene: ATP5D
19 Feb 2020
Severe Paediatric Disorders v0.9
ATP2A1
Louise Daugherty Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
19 Feb 2020
Severe Paediatric Disorders v0.9
ATP1A1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1
19 Feb 2020
Severe Paediatric Disorders v0.9
ATL1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
19 Feb 2020
Severe Paediatric Disorders v0.9
ASNS
Louise Daugherty Added phenotypes Asparagine synthetase deficiency, 615574 for gene: ASNS
19 Feb 2020
Severe Paediatric Disorders v0.9
ASAH1
Louise Daugherty Added phenotypes Farber lipogranulomatosis, 228000; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 for gene: ASAH1
19 Feb 2020
Severe Paediatric Disorders v0.9
ARX
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 1, 308350; Partington syndrome, 309510; Lissencephaly, X-linked 2, 300215; Proud syndrome, 300004; Hydranencephaly with abnormal genitalia, 300215; Mental retardation, X-linked 29 and others, 300419 for gene: ARX
19 Feb 2020
Severe Paediatric Disorders v0.9
ARV1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 38, 617020 for gene: ARV1
19 Feb 2020
Severe Paediatric Disorders v0.9
ARPC1B
Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
19 Feb 2020
Severe Paediatric Disorders v0.9
ARHGEF9
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 8, 300607 for gene: ARHGEF9
19 Feb 2020
Severe Paediatric Disorders v0.9
ARFGEF2
Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
19 Feb 2020
Severe Paediatric Disorders v0.9
ARCN1
Louise Daugherty Added phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 for gene: ARCN1
19 Feb 2020
Severe Paediatric Disorders v0.9
AR
Louise Daugherty Added phenotypes Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 for gene: AR
19 Feb 2020
Severe Paediatric Disorders v0.9
APTX
Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
19 Feb 2020
Severe Paediatric Disorders v0.9
APOE
Louise Daugherty Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE
19 Feb 2020
Severe Paediatric Disorders v0.9
APOA1
Louise Daugherty Added phenotypes Amyloidosis, 3 or more types, 105200; ApoA-I and apoC-III deficiency, combined, 618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 for gene: APOA1
19 Feb 2020
Severe Paediatric Disorders v0.9
AP3B2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 48, 617276 for gene: AP3B2
19 Feb 2020
Severe Paediatric Disorders v0.9
AP2M1
Louise Daugherty Added phenotypes Intellectual developmental disorder 60 with seizures, 618587 for gene: AP2M1
19 Feb 2020
Severe Paediatric Disorders v0.9
ANOS1
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 for gene: ANOS1
19 Feb 2020
Severe Paediatric Disorders v0.9
ANO5
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260 for gene: ANO5
19 Feb 2020
Severe Paediatric Disorders v0.9
ANKS6
Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
19 Feb 2020
Severe Paediatric Disorders v0.9
ANKRD26
Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
19 Feb 2020
Severe Paediatric Disorders v0.9
AMT
Louise Daugherty Added phenotypes Glycine encephalopathy, 605899 for gene: AMT
19 Feb 2020
Severe Paediatric Disorders v0.9
AMER1
Louise Daugherty Added phenotypes Osteopathia striata with cranial sclerosis, 300373 for gene: AMER1
19 Feb 2020
Severe Paediatric Disorders v0.9
AMACR
Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
19 Feb 2020
Severe Paediatric Disorders v0.9
ALOXE3
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 3, 606545 for gene: ALOXE3
19 Feb 2020
Severe Paediatric Disorders v0.9
ALOX12B
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 2, 242100 for gene: ALOX12B
19 Feb 2020
Severe Paediatric Disorders v0.9
ALG8
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
19 Feb 2020
Severe Paediatric Disorders v0.9
ALG13
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 36, 300884 for gene: ALG13
19 Feb 2020
Severe Paediatric Disorders v0.9
ALDH6A1
Louise Daugherty Added phenotypes Methylmalonate semialdehyde dehydrogenase deficiency, 614105 for gene: ALDH6A1
19 Feb 2020
Severe Paediatric Disorders v0.9
ALDH1A3
Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
19 Feb 2020
Severe Paediatric Disorders v0.9
ALB
Louise Daugherty Added phenotypes Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 for gene: ALB
19 Feb 2020
Severe Paediatric Disorders v0.9
ALAS2
Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
19 Feb 2020
Severe Paediatric Disorders v0.9
AKR1D1
Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 2, 235555 for gene: AKR1D1
19 Feb 2020
Severe Paediatric Disorders v0.9
AIRE
Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
19 Feb 2020
Severe Paediatric Disorders v0.9
AICDA
Louise Daugherty Added phenotypes Immunodeficiency with hyper-IgM, type 2, 605258 for gene: AICDA
19 Feb 2020
Severe Paediatric Disorders v0.9
AGRN
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
19 Feb 2020
Severe Paediatric Disorders v0.9
ADPRHL2
Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 for gene: ADPRHL2
19 Feb 2020
Severe Paediatric Disorders v0.9
ADK
Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
19 Feb 2020
Severe Paediatric Disorders v0.9
ADGRG6
Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
19 Feb 2020
Severe Paediatric Disorders v0.9
ADCY5
Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
19 Feb 2020
Severe Paediatric Disorders v0.9
ADAMTS13
Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
19 Feb 2020
Severe Paediatric Disorders v0.9
ACTL6B
Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
19 Feb 2020
Severe Paediatric Disorders v0.9
ACTG2
Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
19 Feb 2020
Severe Paediatric Disorders v0.9
ACTC1
Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
19 Feb 2020
Severe Paediatric Disorders v0.9
ACTA2
Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
19 Feb 2020
Severe Paediatric Disorders v0.9
ACTA1
Louise Daugherty Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800 for gene: ACTA1
19 Feb 2020
Severe Paediatric Disorders v0.9
ACSF3
Louise Daugherty Added phenotypes Combined malonic and methylmalonic aciduria, 614265 for gene: ACSF3
19 Feb 2020
Severe Paediatric Disorders v0.9
ACP5
Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
19 Feb 2020
Severe Paediatric Disorders v0.9
ACAT1
Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
19 Feb 2020
Severe Paediatric Disorders v0.9
ACAN
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
19 Feb 2020
Severe Paediatric Disorders v0.9
ACADSB
Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
19 Feb 2020
Severe Paediatric Disorders v0.9
ABHD12
Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 for gene: ABHD12
19 Feb 2020
Severe Paediatric Disorders v0.9
ABCD4
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
19 Feb 2020
Severe Paediatric Disorders v0.9
ABCD1
Louise Daugherty Added phenotypes Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, 300100 for gene: ABCD1
19 Feb 2020
Severe Paediatric Disorders v0.9
ABCC9
Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
19 Feb 2020
Severe Paediatric Disorders v0.9
ABCC6
Louise Daugherty Added phenotypes Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, 264800; Pseudoxanthoma elasticum, forme fruste, 177850 for gene: ABCC6
19 Feb 2020
Severe Paediatric Disorders v0.9
ABCB7
Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
19 Feb 2020
Severe Paediatric Disorders v0.9
ABCA12
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 for gene: ABCA12
19 Feb 2020
Severe Paediatric Disorders v0.9
AARS2
Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
19 Feb 2020
Severe Paediatric Disorders v0.9
AARS
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
19 Feb 2020
Severe Paediatric Disorders v0.8
TRAF3IP2
Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
19 Feb 2020
Severe Paediatric Disorders v0.8
SMO
Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
19 Feb 2020
Severe Paediatric Disorders v0.8
RPS15
Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
19 Feb 2020
Severe Paediatric Disorders v0.8
NFAT5
Louise Daugherty Added phenotypes Adenomas, multiple colorectal, 608456; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Gastric cancer, somatic, 613659 for gene: NFAT5
19 Feb 2020
Severe Paediatric Disorders v0.8
MUTYH
Louise Daugherty Added phenotypes Lipoma, somatic; Adrenal adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Parathyroid adenoma, somatic; Carcinoid tumor of lung; Angiofibroma, somatic for gene: MUTYH
19 Feb 2020
Severe Paediatric Disorders v0.8
KIRREL3
Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
19 Feb 2020
Severe Paediatric Disorders v0.8
IL22
Louise Daugherty Added phenotypes Arthritis; Immunodeficiency 5 for gene: IL22
19 Feb 2020
Severe Paediatric Disorders v0.8
IL17A
Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Rheumatoid arthritis, progression of}, 180300; {Graft-versus-host disease, protection against}, 614395 for gene: IL17A
19 Feb 2020
Severe Paediatric Disorders v0.8
TSEN34
Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
19 Feb 2020
Severe Paediatric Disorders v0.8
TPM4
Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
19 Feb 2020
Severe Paediatric Disorders v0.8
SEMA3E
Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
19 Feb 2020
Severe Paediatric Disorders v0.8
REEP2
Louise Daugherty Added phenotypes Retinoblastoma, trilateral, 180200; Bladder cancer, somatic, 109800; Osteosarcoma, somatic, 259500; Retinoblastoma, 180200; Small cell cancer of the lung, somatic, 182280 for gene: REEP2
19 Feb 2020
Severe Paediatric Disorders v0.8
PRKACG
Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
19 Feb 2020
Severe Paediatric Disorders v0.8
KCNT2
Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
19 Feb 2020
Severe Paediatric Disorders v0.8
GFI1
Louise Daugherty Added phenotypes ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847; ?Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1
19 Feb 2020
Severe Paediatric Disorders v0.8
FRMD4A
Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
19 Feb 2020
Severe Paediatric Disorders v0.8
ATPAF2
Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
19 Feb 2020
Severe Paediatric Disorders v0.8
ZSWIM6
Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
19 Feb 2020
Severe Paediatric Disorders v0.8
ZNF142
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
19 Feb 2020
Severe Paediatric Disorders v0.8
ZMPSTE24
Louise Daugherty Added phenotypes Restrictive dermopathy, lethal, 275210; Mandibuloacral dysplasia with type B lipodystrophy, 608612 for gene: ZMPSTE24
19 Feb 2020
Severe Paediatric Disorders v0.8
ZMIZ1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
19 Feb 2020
Severe Paediatric Disorders v0.8
YWHAG
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
19 Feb 2020
Severe Paediatric Disorders v0.8
YARS2
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
19 Feb 2020
Severe Paediatric Disorders v0.8
XPR1
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
19 Feb 2020
Severe Paediatric Disorders v0.8
XDH
Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
19 Feb 2020
Severe Paediatric Disorders v0.8
WWOX
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 12, 614322; Epileptic encephalopathy, early infantile, 28, 616211 for gene: WWOX
19 Feb 2020
Severe Paediatric Disorders v0.8
WNT7A
Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
19 Feb 2020
Severe Paediatric Disorders v0.8
WNT10B
Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
19 Feb 2020
Severe Paediatric Disorders v0.8
WNT10A
Louise Daugherty Added phenotypes Schopf-Schulz-Passarge syndrome, 224750; Tooth agenesis, selective, 4, 150400; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR81
Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR62
Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR60
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR45B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR45
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR4
Louise Daugherty Added phenotypes Galloway-Mowat syndrome 6, 618347; Microcephaly, growth deficiency, seizures, and brain malformations, 618346 for gene: WDR4
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR35
Louise Daugherty Added phenotypes Cranioectodermal dysplasia 2, 613610; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 for gene: WDR35
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR34
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR19
Louise Daugherty Added phenotypes ?Cranioectodermal dysplasia 4, 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Senior-Loken syndrome 8, 616307; Nephronophthisis 13, 614377 for gene: WDR19
19 Feb 2020
Severe Paediatric Disorders v0.8
WDR11
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
19 Feb 2020
Severe Paediatric Disorders v0.8
WASF1
Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
19 Feb 2020
Severe Paediatric Disorders v0.8
WAS
Louise Daugherty Added phenotypes Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, intermittent, 313900; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
19 Feb 2020
Severe Paediatric Disorders v0.8
WARS2
Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
19 Feb 2020
Severe Paediatric Disorders v0.8
VSX2
Louise Daugherty Added phenotypes Microphthalmia, isolated 2, 610093; Microphthalmia with coloboma 3, 610092 for gene: VSX2
19 Feb 2020
Severe Paediatric Disorders v0.8
VPS33B
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
19 Feb 2020
Severe Paediatric Disorders v0.8
VPS13A
Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
19 Feb 2020
Severe Paediatric Disorders v0.8
VMA21
Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
19 Feb 2020
Severe Paediatric Disorders v0.8
VLDLR
Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
19 Feb 2020
Severe Paediatric Disorders v0.8
VIPAS39
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
19 Feb 2020
Severe Paediatric Disorders v0.8
VHL
Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; Pheochromocytoma, 171300; von Hippel-Lindau syndrome, 193300 for gene: VHL
19 Feb 2020
Severe Paediatric Disorders v0.8
VCP
Louise Daugherty Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
19 Feb 2020
Severe Paediatric Disorders v0.8
VARS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
19 Feb 2020
Severe Paediatric Disorders v0.8
VAMP1
Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600; Myasthenic syndrome, congenital, 25, 618323 for gene: VAMP1
19 Feb 2020
Severe Paediatric Disorders v0.8
USB1
Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
19 Feb 2020
Severe Paediatric Disorders v0.8
UROS
Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
19 Feb 2020
Severe Paediatric Disorders v0.8
UROD
Louise Daugherty Added phenotypes Porphyria, hepatoerythropoietic, 176100; Porphyria cutanea tarda, 176100 for gene: UROD
19 Feb 2020
Severe Paediatric Disorders v0.8
UNG
Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG