PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Predominantly Antibody Deficiency v0.146 POU2AF1 Bryony Thompson Gene: pou2af1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.145 POU2AF1 Bryony Thompson reviewed gene: POU2AF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35603192, 33571536; Phenotypes: Agammaglobulinemia MONDO:0015977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Marked gene: KARS as ready
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Gene: kars has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Classified gene: KARS as Green List (high evidence)
Predominantly Antibody Deficiency v0.145 KARS Bryony Thompson Gene: kars has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.144 KARS Bryony Thompson gene: KARS was added
gene: KARS was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 37770806
Phenotypes for gene: KARS were set to leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893
Review for gene: KARS was set to GREEN
gene: KARS was marked as current diagnostic
Added comment: Recurrent/severe infections (9/17) and B cell abnormalities (either B cell lymphopenia [3/9], hypogammaglobulinemia [either IgG, IgA or IgM; 6/15] or impaired vaccine responses [4/7]) have been reported in cases with KARS1-related disease.
Sources: Expert list
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Marked gene: IGKC as ready
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Gene: igkc has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2134 IGKC Bryony Thompson Marked gene: IGKC as ready
Mendeliome v1.2134 IGKC Bryony Thompson Gene: igkc has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2134 IGKC Bryony Thompson Classified gene: IGKC as Amber List (moderate evidence)
Mendeliome v1.2134 IGKC Bryony Thompson Gene: igkc has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Classified gene: IGKC as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.143 IGKC Bryony Thompson Gene: igkc has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2133 IGKC Bryony Thompson gene: IGKC was added
gene: IGKC was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGKC were set to https://search.clinicalgenome.org/CCID:005121
Phenotypes for gene: IGKC were set to recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
Review for gene: IGKC was set to AMBER
Added comment: Antibody Deficiencies GCEP classify gene-disease association as Limited (18/05/2021) - at least 6 probands https://search.clinicalgenome.org/CCID:005121
Sources: Expert list
Predominantly Antibody Deficiency v0.142 IGKC Bryony Thompson gene: IGKC was added
gene: IGKC was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: IGKC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGKC were set to https://search.clinicalgenome.org/CCID:005121
Phenotypes for gene: IGKC were set to recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
Review for gene: IGKC was set to AMBER
Added comment: Antibody Deficiencies GCEP classify gene-disease association as Limited (18/05/2021)
- at least 6 probands
https://search.clinicalgenome.org/CCID:005121
Sources: Expert list
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Marked gene: CTNNBL1 as ready
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Classified gene: CTNNBL1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.140 CTNNBL1 Bryony Thompson gene: CTNNBL1 was added
gene: CTNNBL1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNBL1 were set to 23343763; 32484799
Phenotypes for gene: CTNNBL1 were set to common variable immunodeficiency MONDO:0015517
Review for gene: CTNNBL1 was set to AMBER
Added comment: A single case has been reported and a supporting null mouse model.
https://search.clinicalgenome.org/CCID:004601
Sources: Expert list
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Marked gene: PTCRA as ready
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Gene: ptcra has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Classified gene: PTCRA as Green List (high evidence)
Combined Immunodeficiency v1.109 PTCRA Bryony Thompson Gene: ptcra has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.108 PTCRA Bryony Thompson reviewed gene: PTCRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 38422122; Phenotypes: Immunodeficiency 126, MIM# 620931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.108 PTCRA Bryony Thompson gene: PTCRA was added
gene: PTCRA was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCRA were set to 38422122
Phenotypes for gene: PTCRA were set to Immunodeficiency 126, MIM# 620931
Bone Marrow Failure v1.102 FLT3LG Bryony Thompson Classified gene: FLT3LG as Amber List (moderate evidence)
Bone Marrow Failure v1.102 FLT3LG Bryony Thompson Gene: flt3lg has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Marked gene: FLT3LG as ready
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Gene: flt3lg has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Classified gene: FLT3LG as Amber List (moderate evidence)
Combined Immunodeficiency v1.107 FLT3LG Bryony Thompson Gene: flt3lg has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.101 FLT3LG Bryony Thompson reviewed gene: FLT3LG: Rating: AMBER; Mode of pathogenicity: None; Publications: 10828034, 38701783; Phenotypes: ?Immunodeficiency 125 MIM#620926; Mode of inheritance: None
Combined Immunodeficiency v1.106 FLT3LG Bryony Thompson gene: FLT3LG was added
gene: FLT3LG was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLT3LG were set to 10828034; 38701783
Phenotypes for gene: FLT3LG were set to ?Immunodeficiency 125 MIM#620926
Review for gene: FLT3LG was set to AMBER
Added comment: One family reported and mouse models. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Mendeliome v1.2132 FLT3LG Bryony Thompson Classified gene: FLT3LG as Amber List (moderate evidence)
Mendeliome v1.2132 FLT3LG Bryony Thompson Gene: flt3lg has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2131 FLT3LG Bryony Thompson reviewed gene: FLT3LG: Rating: AMBER; Mode of pathogenicity: None; Publications: 10828034, 38701783; Phenotypes: ?Immunodeficiency 125 MIM#620926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Marked gene: CD28 as ready
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Gene: cd28 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Classified gene: CD28 as Amber List (moderate evidence)
Combined Immunodeficiency v1.105 CD28 Bryony Thompson Gene: cd28 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.104 CD28 Bryony Thompson gene: CD28 was added
gene: CD28 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD28 were set to 34214472
Phenotypes for gene: CD28 were set to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
Review for gene: CD28 was set to AMBER
Added comment: A single family reported and supporting mouse model. IUIS IEI committee classify the gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Mendeliome v1.2131 TNFSF9 Zornitza Stark Marked gene: TNFSF9 as ready
Mendeliome v1.2131 TNFSF9 Zornitza Stark Gene: tnfsf9 has been classified as Red List (Low Evidence).
Mendeliome v1.2131 TNFSF9 Zornitza Stark gene: TNFSF9 was added
gene: TNFSF9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF9 were set to 35657354
Phenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related
Review for gene: TNFSF9 was set to RED
Added comment: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense variant (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.

They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells.
Sources: Literature
Susceptibility to Viral Infections v0.129 TNFSF9 Zornitza Stark changed review comment from: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.

They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells.
Sources: Literature; to: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense variant (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.

They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells.
Sources: Literature
Susceptibility to Viral Infections v0.129 TNFSF9 Zornitza Stark Marked gene: TNFSF9 as ready
Susceptibility to Viral Infections v0.129 TNFSF9 Zornitza Stark Gene: tnfsf9 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.129 TNFSF9 Zornitza Stark gene: TNFSF9 was added
gene: TNFSF9 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF9 were set to 35657354
Phenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related
Review for gene: TNFSF9 was set to RED
Added comment: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.

They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells.
Sources: Literature
Mendeliome v1.2130 APOA4 Zornitza Stark Marked gene: APOA4 as ready
Mendeliome v1.2130 APOA4 Zornitza Stark Gene: apoa4 has been classified as Green List (High Evidence).
Mendeliome v1.2130 APOA4 Zornitza Stark Classified gene: APOA4 as Green List (high evidence)
Mendeliome v1.2130 APOA4 Zornitza Stark Gene: apoa4 has been classified as Green List (High Evidence).
Mendeliome v1.2129 APOA4 Zornitza Stark gene: APOA4 was added
gene: APOA4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: APOA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA4 were set to 38096951
Phenotypes for gene: APOA4 were set to Hereditary amyloidosis, MONDO:0018634, APOA4-related
Review for gene: APOA4 was set to GREEN
Added comment: 5 families with autosomal dominant medullary amyloidosis. WGS/WES identified 2 different variants in the APOA4 gene (p.D33N in 3 families and p.L66V in 2 families). The variants were absent in gnomAD, located at the structurally flexible N-terminal domain of APOA4, and segregated with disease. There were 48 genotype +ve individuals with 44/48 having an eGFR <60. All clinically affected individuals presented with a bland urinary sediment, CKD, and no clinical evidence of systemic amyloidosis. Mean age of dialysis/transplantation was 58+/-11yrs. Routine kidney biopsies limited to the kidney cortex showed tubulointerstitial fibrosis and secondary glomerulosclerosis and no amyloid deposition. Four affected individuals were shown to have isolated medullary deposition of amyloid, with mass spectrometry showing the mutated Apoa4 as the primary constituent in 3 available cases. Plasma total ApoA4 levels were increased for patients (n=15) with ApoA4 mutations versus controls (n=49). They hypothesize that the amino acid substitutions alter the tertiary or quaternary structure of the mutated ApoA4, leading to increased plasma and primary urine concentrations and isolated medullary amyloid deposition.
Sources: Literature
Amyloidosis v0.31 APOA4 Zornitza Stark Marked gene: APOA4 as ready
Amyloidosis v0.31 APOA4 Zornitza Stark Gene: apoa4 has been classified as Green List (High Evidence).
Amyloidosis v0.31 APOA4 Zornitza Stark Phenotypes for gene: APOA4 were changed from Autosomal dominant renal medullary amyloidosis to Hereditary amyloidosis, MONDO:0018634, APOA4-related
Mitochondrial disease v0.953 TYMP Zornitza Stark Marked gene: TYMP as ready
Mitochondrial disease v0.953 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Mitochondrial disease v0.953 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Mitochondrial disease v0.952 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Mitochondrial disease v0.951 TYMP Zornitza Stark Publications for gene: TYMP were set to
Mitochondrial disease v0.950 TYMP Zornitza Stark Mode of inheritance for gene: TYMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v1.24 HRAS Zornitza Stark Tag somatic tag was added to gene: HRAS.
Amyloidosis v0.30 APOA4 Chirag Patel Classified gene: APOA4 as Green List (high evidence)
Amyloidosis v0.30 APOA4 Chirag Patel Gene: apoa4 has been classified as Green List (High Evidence).
Amyloidosis v0.29 APOA4 Chirag Patel gene: APOA4 was added
gene: APOA4 was added to Amyloidosis. Sources: Literature
Mode of inheritance for gene: APOA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA4 were set to PMID: 38096951
Phenotypes for gene: APOA4 were set to Autosomal dominant renal medullary amyloidosis
Review for gene: APOA4 was set to GREEN
Added comment: 5 families with autosomal dominant medullary amyloidosis. WGS/WES identified 2 different variants in the APOA4 gene (p.D33N in 3 families and p.L66V in 2 families). The variants were absent in gnomAD, located at the structurally flexible N-terminal domain of APOA4, and segregated with disease. There were 48 genotype +ve individuals with 44/48 having an eGFR <60. All clinically affected individuals presented with a bland urinary sediment, CKD, and no clinical evidence of systemic amyloidosis. Mean age of dialysis/transplantation was 58+/-11yrs. Routine kidney biopsies limited to the kidney cortex showed tubulointerstitial fibrosis and secondary glomerulosclerosis and no amyloid deposition. Four affected individuals were shown to have isolated medullary deposition of amyloid, with mass spectrometry showing the mutated Apoa4 as the primary constituent in 3 available cases.
Plasma total ApoA4 levels were increased for patients (n=15) with ApoA4 mutations versus controls (n=49). They hypothesize that the amino acid substitutions alter the tertiary or quaternary structure of the mutated ApoA4, leading to increased plasma and primary urine concentrations and isolated medullary amyloid deposition.
Sources: Literature
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Marked gene: DSG1 as ready
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Classified gene: DSG1 as Green List (high evidence)
Combined Immunodeficiency v1.103 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.101 DSG1 Bryony Thompson gene: DSG1 was added
gene: DSG1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 23974871; 32126589; 29604126
Phenotypes for gene: DSG1 were set to severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Marked gene: STAT6 as ready
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Gene: stat6 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Classified gene: STAT6 as Green List (high evidence)
Combined Immunodeficiency v1.100 STAT6 Bryony Thompson Gene: stat6 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.99 STAT6 Bryony Thompson gene: STAT6 was added
gene: STAT6 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: STAT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT6 were set to 36884218; 36758835
Phenotypes for gene: STAT6 were set to hyper-IgE syndrome MONDO:0018037
Mode of pathogenicity for gene: STAT6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: STAT6 was set to GREEN
gene: STAT6 was marked as current diagnostic
Added comment: Gain of function variants cause early-onset allergies. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Marked gene: RECQL4 as ready
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Gene: recql4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Classified gene: RECQL4 as Green List (high evidence)
Combined Immunodeficiency v1.98 RECQL4 Bryony Thompson Gene: recql4 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.97 RECQL4 Bryony Thompson gene: RECQL4 was added
gene: RECQL4 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 21143835; 26064716
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome MONDO:0010002
Review for gene: RECQL4 was set to GREEN
gene: RECQL4 was marked as current diagnostic
Added comment: Immunodeficiency can be a feature of RTS, but is not always present. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Marked gene: POLA1 as ready
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Gene: pola1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Classified gene: POLA1 as Green List (high evidence)
Combined Immunodeficiency v1.96 POLA1 Bryony Thompson Gene: pola1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.95 POLA1 Bryony Thompson gene: POLA1 was added
gene: POLA1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POLA1 were set to 27019227
Phenotypes for gene: POLA1 were set to X-linked reticulate pigmentary disorder MONDO:0010523
Review for gene: POLA1 was set to GREEN
gene: POLA1 was marked as current diagnostic
Added comment: An intronic variant that alters splicing causes a combined primary immunodeficiency with autoinflammatory features. IUIS IEI committee classifies the gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Marked gene: MCM10 as ready
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Gene: mcm10 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Classified gene: MCM10 as Amber List (moderate evidence)
Combined Immunodeficiency v1.94 MCM10 Bryony Thompson Gene: mcm10 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.93 MCM10 Bryony Thompson gene: MCM10 was added
gene: MCM10 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM10 were set to Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266
Review for gene: MCM10 was set to AMBER
Added comment: 2 families reported with supporting functional studies
Moderate gene-disease classification - https://search.clinicalgenome.org/CCID:008284
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.143 TSHZ3 Zornitza Stark Marked gene: TSHZ3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.143 TSHZ3 Zornitza Stark Gene: tshz3 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.143 TSHZ3 Zornitza Stark Classified gene: TSHZ3 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.143 TSHZ3 Zornitza Stark Gene: tshz3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.92 GINS4 Bryony Thompson Marked gene: GINS4 as ready
Combined Immunodeficiency v1.92 GINS4 Bryony Thompson Gene: gins4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.92 GINS4 Bryony Thompson gene: GINS4 was added
gene: GINS4 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: GINS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS4 were set to 36345943
Phenotypes for gene: GINS4 were set to combined immunodeficiency MONDO:0015131
Review for gene: GINS4 was set to RED
Added comment: 2 affected siblings with compound het variants are reported in a single family.
Sources: Expert list
Mendeliome v1.2128 TAPBP Bryony Thompson Publications for gene: TAPBP were set to 12149238
Mendeliome v1.2127 TAPBP Bryony Thompson Classified gene: TAPBP as Amber List (moderate evidence)
Mendeliome v1.2127 TAPBP Bryony Thompson Gene: tapbp has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2126 TAPBP Bryony Thompson reviewed gene: TAPBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 38866210, 12149238; Phenotypes: MHC class I deficiency MONDO:0011476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.91 TAPBP Bryony Thompson Publications for gene: TAPBP were set to 12149238
Combined Immunodeficiency v1.90 TAPBP Bryony Thompson Classified gene: TAPBP as Amber List (moderate evidence)
Combined Immunodeficiency v1.90 TAPBP Bryony Thompson Gene: tapbp has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.89 TAPBP Bryony Thompson reviewed gene: TAPBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 38866210, 12149238; Phenotypes: MHC class I deficiency MONDO:0011476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2126 RHOH Bryony Thompson Publications for gene: RHOH were set to 22850876; 27574848
Combined Immunodeficiency v1.89 RHOH Bryony Thompson Publications for gene: RHOH were set to 38775840; 22850876; 27574848
Combined Immunodeficiency v1.88 RHOH Bryony Thompson Publications for gene: RHOH were set to 22850876; 27574848
Mendeliome v1.2125 RHOH Bryony Thompson Classified gene: RHOH as Amber List (moderate evidence)
Mendeliome v1.2125 RHOH Bryony Thompson Gene: rhoh has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.87 RHOH Bryony Thompson Classified gene: RHOH as Amber List (moderate evidence)
Combined Immunodeficiency v1.87 RHOH Bryony Thompson Gene: rhoh has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2124 RHOH Bryony Thompson reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: None; Publications: 38775840, 22850876; Phenotypes: epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.86 RHOH Bryony Thompson reviewed gene: RHOH: Rating: AMBER; Mode of pathogenicity: None; Publications: 38775840, 22850876; Phenotypes: epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2124 PRIM1 Bryony Thompson Classified gene: PRIM1 as Green List (high evidence)
Mendeliome v1.2124 PRIM1 Bryony Thompson Gene: prim1 has been classified as Green List (High Evidence).
Mendeliome v1.2123 PRIM1 Bryony Thompson reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33060134, 38773012; Phenotypes: primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Marked gene: PRIM1 as ready
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Gene: prim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson changed review comment from: 8 cases from 6 families with combined immunodeficiency a feature of the condition.
Sources: Expert list; to: 8 cases from 6 families with combined immunodeficiency a feature of the condition. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.
Sources: Expert list
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Classified gene: PRIM1 as Green List (high evidence)
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Gene: prim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.85 PRIM1 Bryony Thompson gene: PRIM1 was added
gene: PRIM1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134; 38773012
Phenotypes for gene: PRIM1 were set to primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276
Review for gene: PRIM1 was set to GREEN
Added comment: 8 cases from 6 families with combined immunodeficiency a feature of the condition.
Sources: Expert list
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Marked gene: POLD3 as ready
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Classified gene: POLD3 as Amber List (moderate evidence)
Combined Immunodeficiency v1.84 POLD3 Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.83 POLD3 Bryony Thompson gene: POLD3 was added
gene: POLD3 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD3 were set to 38099988; 37030525
Phenotypes for gene: POLD3 were set to Immunodeficiency 122, MIM# 620869
Review for gene: POLD3 was set to AMBER
Added comment: Two reported cases. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.
Sources: Expert list
Congenital Disorders of Glycosylation v1.54 MAN2B2 Bryony Thompson Phenotypes for gene: MAN2B2 were changed from ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Mendeliome v1.2123 MAN2B2 Bryony Thompson Publications for gene: MAN2B2 were set to 31775018; 35637269
Mendeliome v1.2122 MAN2B2 Bryony Thompson reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.53 MAN2B2 Bryony Thompson Publications for gene: MAN2B2 were set to 31775018; 35637269
Congenital Disorders of Glycosylation v1.52 MAN2B2 Bryony Thompson reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.82 MAN2B2 Bryony Thompson Publications for gene: MAN2B2 were set to PMID: 31775018
Combined Immunodeficiency v1.81 MAN2B2 Bryony Thompson Classified gene: MAN2B2 as Amber List (moderate evidence)
Combined Immunodeficiency v1.81 MAN2B2 Bryony Thompson Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.80 MAN2B2 Bryony Thompson reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.122 IL21 Bryony Thompson Classified gene: IL21 as Red List (low evidence)
Inflammatory bowel disease v0.122 IL21 Bryony Thompson Added comment: Comment on list classification: Only a single case reported
Inflammatory bowel disease v0.122 IL21 Bryony Thompson Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Marked gene: IKZF2 as ready
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Gene: ikzf2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Classified gene: IKZF2 as Green List (high evidence)
Combined Immunodeficiency v1.80 IKZF2 Bryony Thompson Gene: ikzf2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.79 IKZF2 Bryony Thompson gene: IKZF2 was added
gene: IKZF2 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IKZF2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IKZF2 were set to 34826260; 34826259; 34920454
Phenotypes for gene: IKZF2 were set to HELIOS deficiency MONDO:0800139
Review for gene: IKZF2 was set to GREEN
Added comment: Cases present with a combined immunodeficiency phenotype characterised by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Incomplete penetrance is reported. IUIS IEI committee include this gene in the Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency subcategory of Immunodeficiencies affecting cellular and humoral immunity.
Sources: Expert list
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Marked gene: FOXI3 as ready
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Gene: foxi3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Classified gene: FOXI3 as Amber List (moderate evidence)
Combined Immunodeficiency v1.78 FOXI3 Bryony Thompson Gene: foxi3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.77 FOXI3 Bryony Thompson gene: FOXI3 was added
gene: FOXI3 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXI3 were set to 35987349; 31600545
Phenotypes for gene: FOXI3 were set to thymic dysplasia MONDO:0004195
Review for gene: FOXI3 was set to AMBER
Added comment: 2 cases with loss of function variants in FOXI3 that resulted in abnormal TRECs and T cell lymphopenia. Incomplete penetrance in both families (4 unaffected individuals with variant & 2 affected with variant). Also, 5 families with overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 with similar immunophenotypes that included selective T cell lymphopenia. Also, supporting mouse models. However, due to the incomplete penetrance the gene-disease association remains uncertain.
Sources: Expert list
Mendeliome v1.2122 NUDCD3 Bryony Thompson Marked gene: NUDCD3 as ready
Mendeliome v1.2122 NUDCD3 Bryony Thompson Gene: nudcd3 has been classified as Green List (High Evidence).
Mendeliome v1.2122 NUDCD3 Bryony Thompson Classified gene: NUDCD3 as Green List (high evidence)
Mendeliome v1.2122 NUDCD3 Bryony Thompson Gene: nudcd3 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v1.8 NUDCD3 Bryony Thompson Marked gene: NUDCD3 as ready
Severe Combined Immunodeficiency (absent T absent B cells) v1.8 NUDCD3 Bryony Thompson Gene: nudcd3 has been classified as Green List (High Evidence).
Mendeliome v1.2120 NUDCD3 Bryony Thompson gene: NUDCD3 was added
gene: NUDCD3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD3 were set to 38787962
Phenotypes for gene: NUDCD3 were set to severe combined immunodeficiency MONDO:0015974
Severe Combined Immunodeficiency (absent T absent B cells) v1.8 NUDCD3 Bryony Thompson Classified gene: NUDCD3 as Green List (high evidence)
Severe Combined Immunodeficiency (absent T absent B cells) v1.8 NUDCD3 Bryony Thompson Gene: nudcd3 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.154 MCTS1 Bryony Thompson Marked gene: MCTS1 as ready
Defects of intrinsic and innate immunity v0.154 MCTS1 Bryony Thompson Gene: mcts1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.154 MCTS1 Bryony Thompson Phenotypes for gene: MCTS1 were changed from to Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related
Defects of intrinsic and innate immunity v0.153 MCTS1 Bryony Thompson Publications for gene: MCTS1 were set to
Defects of intrinsic and innate immunity v0.152 MCTS1 Bryony Thompson Classified gene: MCTS1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.152 MCTS1 Bryony Thompson Gene: mcts1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.151 MAPK8 Bryony Thompson Marked gene: MAPK8 as ready
Defects of intrinsic and innate immunity v0.151 MAPK8 Bryony Thompson Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.151 MAPK8 Bryony Thompson Phenotypes for gene: MAPK8 were changed from to Chronic mucocutaneous candidiasis; Connective tissue disorders
Defects of intrinsic and innate immunity v0.150 MAPK8 Bryony Thompson Publications for gene: MAPK8 were set to
Defects of intrinsic and innate immunity v0.149 MAPK8 Bryony Thompson Classified gene: MAPK8 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.149 MAPK8 Bryony Thompson Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.148 IRF1 Bryony Thompson Marked gene: IRF1 as ready
Defects of intrinsic and innate immunity v0.148 IRF1 Bryony Thompson Gene: irf1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.148 IRF1 Bryony Thompson Phenotypes for gene: IRF1 were changed from to Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
Defects of intrinsic and innate immunity v0.147 IRF1 Bryony Thompson Publications for gene: IRF1 were set to
Defects of intrinsic and innate immunity v0.146 IRF1 Bryony Thompson Classified gene: IRF1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.146 IRF1 Bryony Thompson Gene: irf1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.144 IRF1 Bryony Thompson gene: IRF1 was added
gene: IRF1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.143 MAPK8 Bryony Thompson gene: MAPK8 was added
gene: MAPK8 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.142 MCTS1 Bryony Thompson gene: MCTS1 was added
gene: MCTS1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disorders of immune dysregulation v0.195 ATG9A Bryony Thompson Marked gene: ATG9A as ready
Disorders of immune dysregulation v0.195 ATG9A Bryony Thompson Gene: atg9a has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.195 ATG9A Bryony Thompson gene: ATG9A was added
gene: ATG9A was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: ATG9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG9A were set to 35838483
Phenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia
Review for gene: ATG9A was set to RED
Added comment: A single case with compound heterozygous variants was reported. After infection with Epstein-Barr virus (EBV), the patient developed hyperplastic proliferation of T and B cells in the lung and brain and exhibited defects in lymphocyte memory cell populations. In vitro functional assays.
Sources: Literature
Mendeliome v1.2119 ATG9A Bryony Thompson Marked gene: ATG9A as ready
Mendeliome v1.2119 ATG9A Bryony Thompson Gene: atg9a has been classified as Red List (Low Evidence).
Mendeliome v1.2119 ATG9A Bryony Thompson gene: ATG9A was added
gene: ATG9A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATG9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG9A were set to 35838483
Phenotypes for gene: ATG9A were set to Autophagy-associated immune dysregulation and hyperplasia
Review for gene: ATG9A was set to RED
Added comment: A single case with compound heterozygous variants was reported. After infection with Epstein-Barr virus (EBV), the patient developed hyperplastic proliferation of T and B cells in the lung and brain and exhibited defects in lymphocyte memory cell populations. In vitro functional assays.
Sources: Literature
Predominantly Antibody Deficiency v0.139 MS4A1 Bryony Thompson Classified gene: MS4A1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.139 MS4A1 Bryony Thompson Gene: ms4a1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.31 CCR2 Bryony Thompson Marked gene: CCR2 as ready
Phagocyte Defects v1.31 CCR2 Bryony Thompson Gene: ccr2 has been classified as Green List (High Evidence).
Phagocyte Defects v1.31 CCR2 Bryony Thompson Classified gene: CCR2 as Green List (high evidence)
Phagocyte Defects v1.31 CCR2 Bryony Thompson Gene: ccr2 has been classified as Green List (High Evidence).
Mendeliome v1.2118 CCR2 Bryony Thompson Phenotypes for gene: CCR2 were changed from {HIV infection, susceptibility/resistance to} to {HIV infection, susceptibility/resistance to}; Polycystic lung disease MIM#219600
Phagocyte Defects v1.30 CCR2 Bryony Thompson gene: CCR2 was added
gene: CCR2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCR2 were set to 38157855
Phenotypes for gene: CCR2 were set to Polycystic lung disease MIM#219600
Review for gene: CCR2 was set to GREEN
Added comment: CCR2 deficiency was found to cause pulmonary alveolar proteinosis (PAP), polycystic lung disease, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues. 9 children from 5 independent kindreds with biallelic variants, homozygous in 6 cases & compound heterozygous in 3 were identified. Classified as a congenital defect of phagocyte number or function (subcategory defects of motility) by the IUIS IEI committee.
Sources: Expert list
Mendeliome v1.2117 CCR2 Bryony Thompson Publications for gene: CCR2 were set to 34516427; 17504215; 15167933; 17604544
Mendeliome v1.2116 CCR2 Bryony Thompson Mode of inheritance for gene: CCR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2115 CCR2 Bryony Thompson Classified gene: CCR2 as Green List (high evidence)
Mendeliome v1.2115 CCR2 Bryony Thompson Gene: ccr2 has been classified as Green List (High Evidence).
Mendeliome v1.2114 CCR2 Bryony Thompson reviewed gene: CCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38157855; Phenotypes: Polycystic lung disease MIM#219600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson Marked gene: ATG4A as ready
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson Gene: atg4a has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson changed review comment from: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile).
Sources: Expert list; to: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). Classified as a defect of intrinsic and innate immunity by IUIS and included on their list of IEIs.
Sources: Expert list
Defects of intrinsic and innate immunity v0.141 ATG4A Bryony Thompson gene: ATG4A was added
gene: ATG4A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: ATG4A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ATG4A were set to 33310865
Phenotypes for gene: ATG4A were set to infectious meningitis MONDO:0004796
Review for gene: ATG4A was set to RED
Added comment: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile).
Sources: Expert list
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Marked gene: ATAD3A as ready
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Gene: atad3a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Classified gene: ATAD3A as Green List (high evidence)
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Gene: atad3a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.55 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 34387651
Phenotypes for gene: ATAD3A were set to inborn error of immunity MONDO:0003778; Harel-Yoon syndrome MONDO:0014958
Review for gene: ATAD3A was set to GREEN
gene: ATAD3A was marked as current diagnostic
Added comment: Elevated interferon-stimulated gene expression and increased serum type 1 IFNs were identified in both cases with monoallelic and biallelic variants. Classified as an inborn error of immunity (type 1 interferonopathy) by IUIS in the July 2024 IEI update.
Sources: Expert list
Predominantly Antibody Deficiency v0.138 ARHGEF1 Bryony Thompson Publications for gene: ARHGEF1 were set to 30521495
Predominantly Antibody Deficiency v0.137 ARHGEF1 Bryony Thompson Classified gene: ARHGEF1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.137 ARHGEF1 Bryony Thompson Gene: arhgef1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2114 ARHGEF1 Bryony Thompson Classified gene: ARHGEF1 as Amber List (moderate evidence)
Mendeliome v1.2114 ARHGEF1 Bryony Thompson Gene: arhgef1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.140 APOL1 Bryony Thompson Classified gene: APOL1 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.140 APOL1 Bryony Thompson Added comment: Comment on list classification: Included on the IUIS inborn errors of immunity
Defects of intrinsic and innate immunity v0.140 APOL1 Bryony Thompson Gene: apol1 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.17 DTNA Bryony Thompson Classified gene: DTNA as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v1.17 DTNA Bryony Thompson Added comment: Comment on list classification: Exercise intolerance is a prominent feature of the myopathy
Rhabdomyolysis and Metabolic Myopathy v1.17 DTNA Bryony Thompson Gene: dtna has been classified as Green List (High Evidence).
Mitochondrial disease v0.949 ME2 Bryony Thompson Marked gene: ME2 as ready
Mitochondrial disease v0.949 ME2 Bryony Thompson Gene: me2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.949 ME2 Bryony Thompson gene: ME2 was added
gene: ME2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ME2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ME2 were set to 39401966
Phenotypes for gene: ME2 were set to inborn disorder of energy metabolism MONDO:0019243
Review for gene: ME2 was set to RED
Added comment: A single individual with a homozygous frameshift variant from a consanguineous family. The phenotype included developmental delay, microcephaly, mild brain atrophy, peripheral hypotonia, subtle dysmorphic features, ectopic kidney, and mild lactate elevation. Deletion of yeast ortholog of the gene resulted in growth arrest (which could be rescued).
Sources: Literature
Mendeliome v1.2113 ME2 Bryony Thompson Marked gene: ME2 as ready
Mendeliome v1.2113 ME2 Bryony Thompson Gene: me2 has been classified as Red List (Low Evidence).
Mendeliome v1.2113 ME2 Bryony Thompson gene: ME2 was added
gene: ME2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ME2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ME2 were set to 39401966
Phenotypes for gene: ME2 were set to inborn disorder of energy metabolism MONDO:0019243
Review for gene: ME2 was set to RED
Added comment: A single individual with a homozygous frameshift variant from a consanguineous family. The phenotype included developmental delay, microcephaly, mild brain atrophy, peripheral
hypotonia, subtle dysmorphic features, ectopic kidney, and mild lactate elevation. Deletion of yeast ortholog of the gene resulted in growth arrest (which could be rescued).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6666 TSHZ3 Bryony Thompson Marked gene: TSHZ3 as ready
Intellectual disability syndromic and non-syndromic v0.6666 TSHZ3 Bryony Thompson Gene: tshz3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6666 TSHZ3 Bryony Thompson Classified gene: TSHZ3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6666 TSHZ3 Bryony Thompson Gene: tshz3 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.140 TSHZ3 Bryony Thompson gene: TSHZ3 was added
gene: TSHZ3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202
Phenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719
Review for gene: TSHZ3 was set to AMBER
Added comment: More evidence for the gene-disease association is required
PMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)
PMID: 34919690 - haploinsufficient mouse model leads to kidney defects
PMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.
PMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6666 TSHZ3 Bryony Thompson Classified gene: TSHZ3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6666 TSHZ3 Bryony Thompson Gene: tshz3 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.140 TSHZ3 Bryony Thompson gene: TSHZ3 was added
gene: TSHZ3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202
Phenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719
Review for gene: TSHZ3 was set to AMBER
Added comment: More evidence for the gene-disease association is required
PMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)
PMID: 34919690 - haploinsufficient mouse model leads to kidney defects
PMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.
PMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6665 TSHZ3 Bryony Thompson gene: TSHZ3 was added
gene: TSHZ3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202
Phenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719
Review for gene: TSHZ3 was set to AMBER
Added comment: More evidence for the gene-disease association is required
PMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)
PMID: 34919690 - haploinsufficient mouse model leads to kidney defects
PMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.
PMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents).
Sources: Literature
Mendeliome v1.2112 TSHZ3 Bryony Thompson Marked gene: TSHZ3 as ready
Mendeliome v1.2112 TSHZ3 Bryony Thompson Gene: tshz3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2112 TSHZ3 Bryony Thompson Classified gene: TSHZ3 as Amber List (moderate evidence)
Mendeliome v1.2112 TSHZ3 Bryony Thompson Gene: tshz3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2111 TSHZ3 Bryony Thompson gene: TSHZ3 was added
gene: TSHZ3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202
Phenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719
Review for gene: TSHZ3 was set to AMBER
Added comment: More evidence for the gene-disease association is required
PMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)
PMID: 34919690 - haploinsufficient mouse model leads to kidney defects
PMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.
PMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents).
Sources: Literature
Cholestasis v0.249 WDR83OS Bryony Thompson Phenotypes for gene: WDR83OS were changed from Cholestasis to complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia
Cholestasis v0.248 WDR83OS Bryony Thompson Publications for gene: WDR83OS were set to 39471804; 30250217
Cholestasis v0.247 WDR83OS Bryony Thompson Publications for gene: WDR83OS were set to 30250217
Mendeliome v1.2110 WDR83OS Bryony Thompson Phenotypes for gene: WDR83OS were changed from Cholestasis to complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia
Intellectual disability syndromic and non-syndromic v0.6664 WDR83OS Bryony Thompson Marked gene: WDR83OS as ready
Intellectual disability syndromic and non-syndromic v0.6664 WDR83OS Bryony Thompson Gene: wdr83os has been classified as Green List (High Evidence).
Mendeliome v1.2109 WDR83OS Bryony Thompson Publications for gene: WDR83OS were set to 30250217
Intellectual disability syndromic and non-syndromic v0.6664 WDR83OS Bryony Thompson Classified gene: WDR83OS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6664 WDR83OS Bryony Thompson Gene: wdr83os has been classified as Green List (High Evidence).
Cholestasis v0.246 WDR83OS Bryony Thompson Classified gene: WDR83OS as Green List (high evidence)
Cholestasis v0.246 WDR83OS Bryony Thompson Gene: wdr83os has been classified as Green List (High Evidence).
Cholestasis v0.245 WDR83OS Bryony Thompson reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 39471804, 30250217; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, neurodevelopmental disorder with hypercholanemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6663 WDR83OS Bryony Thompson gene: WDR83OS was added
gene: WDR83OS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to 39471804; 30250217
Phenotypes for gene: WDR83OS were set to complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia
Review for gene: WDR83OS was set to GREEN
Added comment: Now 14 cases from 9 unrelated families with homozygous LoF variants, including the family reported in 2019. Consistent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and elevated bile acids (5/6). Also, supporting null zebrafish model that recapitulates the human phenotype.
Sources: Literature
Mendeliome v1.2108 WDR83OS Bryony Thompson edited their review of gene: WDR83OS: Changed phenotypes: complex neurodevelopmental disorder MONDO:0100038, neurodevelopmental disorder with hypercholanemia
Mendeliome v1.2108 WDR83OS Bryony Thompson changed review comment from: Now 14 cases from 9 unrelated families with homozygous LoF variants. Consistent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and elevated bile acids (5/6). Also, supporting null zebrafish model that recapitulates the human phenotype.; to: Now 14 cases from 9 unrelated families with homozygous LoF variants, including the family reported in 2019. Consistent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and elevated bile acids (5/6). Also, supporting null zebrafish model that recapitulates the human phenotype.
Mendeliome v1.2108 WDR83OS Bryony Thompson Classified gene: WDR83OS as Green List (high evidence)
Mendeliome v1.2108 WDR83OS Bryony Thompson Gene: wdr83os has been classified as Green List (High Evidence).
Mendeliome v1.2107 WDR83OS Bryony Thompson reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 39471804, 30250217; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6662 GON4L Bryony Thompson Marked gene: GON4L as ready
Intellectual disability syndromic and non-syndromic v0.6662 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Fetal anomalies v1.293 GON4L Bryony Thompson Marked gene: GON4L as ready
Fetal anomalies v1.293 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Fetal anomalies v1.293 GON4L Bryony Thompson Classified gene: GON4L as Green List (high evidence)
Fetal anomalies v1.293 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Fetal anomalies v1.292 GON4L Bryony Thompson gene: GON4L was added
gene: GON4L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 39500882; 21937992
Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: GON4L was set to GREEN
Added comment: 2 LoF variants in 4 cases from 3 unrelated consanguineous families, and supporting null zebrafish model
PMID: 39500882 - 2 homozygous truncating GON4L variants [NM_001282860.2: c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in 3 patients from 2 consanguineous families with prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly, facial asymmetry, congenital heart anomaly, and brain structure abnormalities.
Null zebrafish model had distinct morphological and size abnormalities in the craniofacial cartilage of zebrafish larvae
Heterozygous carriers in biallelic families were unaffected
PMID: 21937992 - a case from Iran from a consanguineous family homozygous for c.5517+1G>A with syndromic ID. No other clinical details provided
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6662 GON4L Bryony Thompson Classified gene: GON4L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6662 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6661 GON4L Bryony Thompson gene: GON4L was added
gene: GON4L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 39500882; 21937992
Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: GON4L was set to GREEN
Added comment: 2 LoF variants in 4 cases from 3 unrelated consanguineous families, and supporting null zebrafish model
PMID: 39500882 - 2 homozygous truncating GON4L variants [NM_001282860.2: c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in 3 patients from 2 consanguineous families with prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly, facial asymmetry, congenital heart anomaly, and brain structure abnormalities.
Null zebrafish model had distinct morphological and size abnormalities in the craniofacial cartilage of zebrafish larvae
Heterozygous carriers in biallelic families were unaffected
PMID: 21937992 - a case from Iran from a consanguineous family homozygous for c.5517+1G>A with syndromic ID. No other clinical details provided
Sources: Literature
Mendeliome v1.2107 GON4L Bryony Thompson Marked gene: GON4L as ready
Mendeliome v1.2107 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Mendeliome v1.2107 GON4L Bryony Thompson Classified gene: GON4L as Green List (high evidence)
Mendeliome v1.2107 GON4L Bryony Thompson Gene: gon4l has been classified as Green List (High Evidence).
Mendeliome v1.2106 GON4L Bryony Thompson gene: GON4L was added
gene: GON4L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 39500882; 21937992; 31785789; 34011629; 33077954
Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: GON4L was set to GREEN
Added comment: 2 LoF variants in 4 cases from 3 unrelated consanguineous families, and supporting null zebrafish model
PMID: 39500882 - 2 homozygous truncating GON4L variants [NM_001282860.2: c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in 3 patients from 2 consanguineous families with prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly, facial asymmetry, congenital heart anomaly, and brain structure abnormalities.
Null zebrafish model had distinct morphological and size abnormalities in the craniofacial cartilage of zebrafish larvae
Heterozygous carriers in biallelic families were unaffected
PMID: 21937992 - a case from Iran from a consanguineous family homozygous for c.5517+1G>A with syndromic ID. No other clinical details provided

Limited evidence for AD gene-disease association - heterozygous de novo variants identified in autism studies and a congenital hydrocephalus study. But, heterozygous carriers in families with biallelic LoF variants are healthy
PMID: 31785789 - 4 (3 NS & 1 Silent) de novo GON4L variants in cases with autism (n=3) & neurodevelopmental disorder
PMID: 34011629 - 2 cases with autism spectrum disorder and de novo missense
PMID: 33077954 - a de novo splice site variant identified in a single case with congenital hydrocephalus
Sources: Literature
Prepair 1000+ v1.546 LAMB3 Andrew Coventry reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7706760, 10577906, 17476356, 7698759, 11023379; Phenotypes: Epidermolysis bullosa, junctional 1A, intermediate MIM#226650, Epidermolysis bullosa, junctional 1B, severe MIM#226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 KLHL40 Andrew Coventry reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive MIM#615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 KCNQ1 Andrew Coventry changed review comment from: Characterised by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (including during childhood).
Definitive by ClinGen
Moue model present and functional studies.

Note: alterations have also been shown to cause other arrythmias, e.g. Romano-Ward Syndrome (type of Long QT Syndrome) in an AD manner (PMID: 29037160); to: Characterised by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (including during childhood).
Definitive by ClinGen
Mouse model present and functional studies.

Note: alterations have also been shown to cause other arrythmias, e.g. Romano-Ward Syndrome (type of Long QT Syndrome) in an AD manner (PMID: 29037160)
Prepair 1000+ v1.546 KCNQ1 Andrew Coventry reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9020846, 29037160, 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 JAM3 Andrew Coventry reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224, 34292449; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ITCH Andrew Coventry reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897, 31091003, 32356405, 9462731, 9462742; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IQCB1 Andrew Coventry reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5 MIM#609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2105 SGSM3 Zornitza Stark Publications for gene: SGSM3 were set to PMID: 37833060
Mendeliome v1.2104 SGSM3 Zornitza Stark Classified gene: SGSM3 as Green List (high evidence)
Mendeliome v1.2104 SGSM3 Zornitza Stark Gene: sgsm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6660 SGSM3 Zornitza Stark Publications for gene: SGSM3 were set to PMID: 37833060
Intellectual disability syndromic and non-syndromic v0.6659 SGSM3 Zornitza Stark Classified gene: SGSM3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6659 SGSM3 Zornitza Stark Gene: sgsm3 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.318 LSM7 Zornitza Stark Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034
Leukodystrophy - paediatric v0.317 LSM7 Zornitza Stark Phenotypes for gene: LSM7 were changed from Leukodystrophy; fetal death to leukodystrophy MONDO:0019046, LRM7-related
Leukodystrophy - paediatric v0.316 LSM7 Zornitza Stark Classified gene: LSM7 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.316 LSM7 Zornitza Stark Gene: lsm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2103 LSM7 Zornitza Stark Phenotypes for gene: LSM7 were changed from Leukodystrophy; foetal death to leukodystrophy MONDO:0019046, LRM7-related
Genetic Epilepsy v1.72 DALRD3 Zornitza Stark Publications for gene: DALRD3 were set to 32427860
Mendeliome v1.2102 DALRD3 Zornitza Stark Publications for gene: DALRD3 were set to 32427860
Mendeliome v1.2101 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701; Neurodevelopmental disorder, MONDO:0700092, UBTF-related
Mendeliome v1.2100 UBTF Zornitza Stark Publications for gene: UBTF were set to 28777933; 29300972
Mendeliome v1.2099 UBTF Zornitza Stark edited their review of gene: UBTF: Added comment: PMID 39366741: 3 Chinese patients with global developmental delay, intellectual disability, social challenges and dysmorphism (wide forehead, sparse eyebrows, hypertelorism, narrow palpebral fissures, single-fold eyelids, flat nasal bridge, anteverted nares, a long philtrum and a thin upper lip), but no neuroregression (but aged 1.8yrs-4.8yrs). WES with SNV/CNV analysis showed:
-nonsense variant c.1327C>T p. (Arg443Ter) - parental segregation not possible
-de novo ~46 kb deletion at 17q21.31 containing 7 genes but UBTF as only OMIM Morbid gene
-de novo ~106kb deletion at 17q21.31 containing 10 genes but UBTF as only relevant OMIM Morbid gene (other one was SLC4A1)

Propose haploinsufficiency presents with different phenotype to CONDBA which is due to GOF variant.

AMBER for this mechanism and phenotype.; Changed publications: 28777933, 29300972, 39366741; Changed phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701, Neurodevelopmental disorder, MONDO:0700092, UBTF-related
Intellectual disability syndromic and non-syndromic v0.6658 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701; Neurodevelopmental disorder, MONDO:0700092, UBTF-related
Intellectual disability syndromic and non-syndromic v0.6657 UBTF Zornitza Stark Publications for gene: UBTF were set to 28777933; 29300972
Intellectual disability syndromic and non-syndromic v0.6656 MARK2 Zornitza Stark Marked gene: MARK2 as ready
Intellectual disability syndromic and non-syndromic v0.6656 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Mendeliome v1.2099 MARK2 Zornitza Stark Marked gene: MARK2 as ready
Mendeliome v1.2099 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Marked gene: MARK2 as ready
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Classified gene: MARK2 as Green List (high evidence)
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Autism v0.201 MARK2 Zornitza Stark Marked gene: MARK2 as ready
Autism v0.201 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Autism v0.201 MARK2 Zornitza Stark Classified gene: MARK2 as Green List (high evidence)
Autism v0.201 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Mendeliome v1.2099 IRAK2 Zornitza Stark Marked gene: IRAK2 as ready
Mendeliome v1.2099 IRAK2 Zornitza Stark Gene: irak2 has been classified as Red List (Low Evidence).
Mendeliome v1.2099 IRAK2 Zornitza Stark Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related
Mendeliome v1.2098 IRAK2 Zornitza Stark reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.139 IRAK2 Zornitza Stark Marked gene: IRAK2 as ready
Defects of intrinsic and innate immunity v0.139 IRAK2 Zornitza Stark Gene: irak2 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.139 IRAK2 Zornitza Stark Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related
Defects of intrinsic and innate immunity v0.138 IRAK2 Zornitza Stark reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.54 IRAK2 Zornitza Stark Marked gene: IRAK2 as ready
Autoinflammatory Disorders v1.54 IRAK2 Zornitza Stark Gene: irak2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.54 IRAK2 Zornitza Stark Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related
Autoinflammatory Disorders v1.53 IRAK2 Zornitza Stark reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v1.16 DTNA Zornitza Stark reviewed gene: DTNA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, MONDO:0020121, DTNA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rhabdomyolysis and Metabolic Myopathy v1.16 DTNA Zornitza Stark Marked gene: DTNA as ready
Rhabdomyolysis and Metabolic Myopathy v1.16 DTNA Zornitza Stark Gene: dtna has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.16 DTNA Zornitza Stark Phenotypes for gene: DTNA were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322 to Muscular dystrophy, MONDO:0020121, DTNA-related
Mendeliome v1.2098 DTNA Zornitza Stark Publications for gene: DTNA were set to 29118297; 11238270; 16427346
Mendeliome v1.2097 DTNA Zornitza Stark Phenotypes for gene: DTNA were changed from Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169 to Muscular dystrophy, MONDO:0020121, DTNA-related; Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169
Muscular dystrophy and myopathy_Paediatric v1.78 DTNA Zornitza Stark Marked gene: DTNA as ready
Muscular dystrophy and myopathy_Paediatric v1.78 DTNA Zornitza Stark Gene: dtna has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.78 DTNA Zornitza Stark Phenotypes for gene: DTNA were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322 to Muscular dystrophy, MONDO:0020121, DTNA-related
Mendeliome v1.2096 IKZF2 Zornitza Stark Phenotypes for gene: IKZF2 were changed from Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation; nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related
Mendeliome v1.2095 IKZF2 Zornitza Stark Publications for gene: IKZF2 were set to 34920454; 34826259
Mendeliome v1.2094 CRACR2A Sangavi Sivagnanasundram reviewed gene: CRACR2A: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008378; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2094 DNAH9 Sangavi Sivagnanasundram reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008406; Phenotypes: ciliary dyskinesia, primary, 40 MONDO:0032664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2094 FUK Sangavi Sivagnanasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008377; Phenotypes: congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2094 CTPS1 Sangavi Sivagnanasundram reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008376; Phenotypes: severe combined immunodeficiency due to CTPS1 deficiency MONDO:0014391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2094 SOX6 Sangavi Sivagnanasundram reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008480; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.538 BHLHE22 Zornitza Stark Marked gene: BHLHE22 as ready
Callosome v0.538 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Callosome v0.538 BHLHE22 Zornitza Stark Classified gene: BHLHE22 as Green List (high evidence)
Callosome v0.538 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Callosome v0.537 BHLHE22 Zornitza Stark gene: BHLHE22 was added
gene: BHLHE22 was added to Callosome. Sources: Literature
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related
Review for gene: BHLHE22 was set to GREEN
Added comment: Four individuals with de novo missense variants within the highly conserved helix-loop-helix domain and seven individuals from five unrelated families with a recurrent homozygous frameshift variant, p.(Gly74Alafs*18).

Individuals presented with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals had partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms.

Mice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum.
Sources: Literature
Mendeliome v1.2094 BHLHE22 Zornitza Stark Marked gene: BHLHE22 as ready
Mendeliome v1.2094 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Mendeliome v1.2094 BHLHE22 Zornitza Stark Classified gene: BHLHE22 as Green List (high evidence)
Mendeliome v1.2094 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Mendeliome v1.2093 BHLHE22 Zornitza Stark gene: BHLHE22 was added
gene: BHLHE22 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related
Review for gene: BHLHE22 was set to GREEN
Added comment: Four individuals with de novo missense variants within the highly conserved helix-loop-helix domain and seven individuals from five unrelated families with a recurrent homozygous frameshift variant, p.(Gly74Alafs*18).

Individuals presented with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals had partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms.

Mice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6656 BHLHE22 Zornitza Stark Classified gene: BHLHE22 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6656 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6655 BHLHE22 Zornitza Stark Marked gene: BHLHE22 as ready
Intellectual disability syndromic and non-syndromic v0.6655 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6655 BHLHE22 Zornitza Stark Classified gene: BHLHE22 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6655 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6654 BHLHE22 Zornitza Stark gene: BHLHE22 was added
gene: BHLHE22 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related
Review for gene: BHLHE22 was set to GREEN
Added comment: Four individuals with de novo missense variants within the highly conserved helix-loop-helix domain and seven individuals from five unrelated families with a recurrent homozygous frameshift variant, p.(Gly74Alafs*18).

Individuals presented with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals had partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms.

Mice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6653 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Intellectual disability syndromic and non-syndromic v0.6653 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6653 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6653 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6652 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.205 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.204 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.334 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v1.2092 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Mendeliome v1.2092 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mendeliome v1.2092 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Mendeliome v1.2092 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mendeliome v1.2091 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v1.2090 SATB1 Sangavi Sivagnanasundram reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008481; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6651 SATB1 Sangavi Sivagnanasundram reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008481; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2090 NT5C2 Sangavi Sivagnanasundram reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008372; Phenotypes: complex hereditary spastic paraplegia MONDO:0015150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2090 NPTX1 Sangavi Sivagnanasundram reviewed gene: NPTX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: https://search.clinicalgenome.org/CCID:008403; Phenotypes: autosomal dominant cerebellar ataxia MONDO:0020380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.33 ACKR1 Zornitza Stark edited their review of gene: ACKR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.33 ACKR1 Zornitza Stark Mode of inheritance for gene: ACKR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.32 ACKR1 Zornitza Stark Marked gene: ACKR1 as ready
IBMDx study v0.32 ACKR1 Zornitza Stark Gene: ackr1 has been classified as Amber List (Moderate Evidence).
IBMDx study v0.32 ACKR1 Zornitza Stark Classified gene: ACKR1 as Amber List (moderate evidence)
IBMDx study v0.32 ACKR1 Zornitza Stark Gene: ackr1 has been classified as Amber List (Moderate Evidence).
IBMDx study v0.31 ACKR1 Zornitza Stark gene: ACKR1 was added
gene: ACKR1 was added to IBMDx study. Sources: Expert Review
Mode of inheritance for gene: ACKR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACKR1 were set to [Blood group, Duffy system] 110700; Duffy null susceptibility allele
Review for gene: ACKR1 was set to AMBER
Added comment: c.-67T>C is associated with low neutrophil counts.
Sources: Expert Review
Arthrogryposis v0.414 MET Achchuthan Shanmugasundram reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: None; Publications: 38429387; Phenotypes: ?Arthrogryposis, distal, type 11, OMIM:620019; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.546 ASS1 Lauren Thomas reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135652, 15334737; Phenotypes: Citrullinaemia (MIM# 215700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6651 PEX11B Ain Roesley Marked gene: PEX11B as ready
Intellectual disability syndromic and non-syndromic v0.6651 PEX11B Ain Roesley Gene: pex11b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6651 PEX11B Ain Roesley Publications for gene: PEX11B were set to 28129423; 22581968
Intellectual disability syndromic and non-syndromic v0.6650 PEX11B Ain Roesley Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B MIM#614920
Intellectual disability syndromic and non-syndromic v0.6649 PEX11B Ain Roesley Publications for gene: PEX11B were set to
Intellectual disability syndromic and non-syndromic v0.6648 PEX11B Ain Roesley Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6647 PEX11B Ain Roesley reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28129423, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6647 PEX10 Ain Roesley Marked gene: PEX10 as ready
Intellectual disability syndromic and non-syndromic v0.6647 PEX10 Ain Roesley Gene: pex10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6647 PEX10 Ain Roesley Publications for gene: PEX10 were set to 20301621
Intellectual disability syndromic and non-syndromic v0.6647 PEX10 Ain Roesley Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Peroxisome biogenesis disorder 6B MIM#614871
Intellectual disability syndromic and non-syndromic v0.6646 PEX10 Ain Roesley Publications for gene: PEX10 were set to
Intellectual disability syndromic and non-syndromic v0.6646 PEX10 Ain Roesley Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6645 PEX10 Ain Roesley reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6645 PEX1 Ain Roesley Marked gene: PEX1 as ready
Intellectual disability syndromic and non-syndromic v0.6645 PEX1 Ain Roesley Gene: pex1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6645 PEX1 Ain Roesley Publications for gene: PEX1 were set to
Intellectual disability syndromic and non-syndromic v0.6645 PEX1 Ain Roesley Phenotypes for gene: PEX1 were changed from to Heimler syndrome 1 MIM#234580; Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100; Peroxisome biogenesis disorder 1B (NALD/IRD) MIM#601539
Intellectual disability syndromic and non-syndromic v0.6645 PEX1 Ain Roesley Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6644 PEX1 Ain Roesley edited their review of gene: PEX1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.6644 PEX1 Ain Roesley reviewed gene: PEX1: Rating: ; Mode of pathogenicity: None; Publications: 20301621; Phenotypes: Heimler syndrome 1 MIM#234580, Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100, Peroxisome biogenesis disorder 1B (NALD/IRD) MIM#601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6644 PEPD Ain Roesley Publications for gene: PEPD were set to 26110198; 32455636
Intellectual disability syndromic and non-syndromic v0.6644 PEPD Ain Roesley Phenotypes for gene: PEPD were changed from Prolidase deficiency MIM#170100 to Prolidase deficiency MIM#170100
Intellectual disability syndromic and non-syndromic v0.6643 PEPD Ain Roesley Marked gene: PEPD as ready
Intellectual disability syndromic and non-syndromic v0.6643 PEPD Ain Roesley Gene: pepd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6643 PEPD Ain Roesley Phenotypes for gene: PEPD were changed from to Prolidase deficiency MIM#170100
Intellectual disability syndromic and non-syndromic v0.6643 PEPD Ain Roesley Publications for gene: PEPD were set to
Intellectual disability syndromic and non-syndromic v0.6643 PEPD Ain Roesley Mode of inheritance for gene: PEPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6642 PEPD Ain Roesley reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 26110198, 32455636; Phenotypes: Prolidase deficiency MIM#170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6642 PDSS2 Ain Roesley Phenotypes for gene: PDSS2 were changed from Coenzyme Q10 deficiency, primary, 3 MIM#614652 to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Intellectual disability syndromic and non-syndromic v0.6641 PDSS2 Ain Roesley Marked gene: PDSS2 as ready
Intellectual disability syndromic and non-syndromic v0.6641 PDSS2 Ain Roesley Gene: pdss2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6641 PDSS2 Ain Roesley Phenotypes for gene: PDSS2 were changed from Coenzyme Q10 deficiency, primary, 3 MIM#614652 to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Intellectual disability syndromic and non-syndromic v0.6640 PDSS2 Ain Roesley Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Intellectual disability syndromic and non-syndromic v0.6640 PDSS2 Ain Roesley Publications for gene: PDSS2 were set to
Intellectual disability syndromic and non-syndromic v0.6639 PDSS2 Ain Roesley Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6639 PDSS2 Ain Roesley Classified gene: PDSS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.6639 PDSS2 Ain Roesley Gene: pdss2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6638 PDSS2 Ain Roesley reviewed gene: PDSS2: Rating: RED; Mode of pathogenicity: None; Publications: 28125198, 29032433, 25349199, 17186472, 21723727, 10972372; Phenotypes: Coenzyme Q10 deficiency, primary, 3 MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6638 PDHX Ain Roesley Phenotypes for gene: PDHX were changed from Lacticacidemia due to PDX1 deficiency MIM#245349 to Lacticacidemia due to PDX1 deficiency MIM#245349
Intellectual disability syndromic and non-syndromic v0.6638 PDHX Ain Roesley Marked gene: PDHX as ready
Intellectual disability syndromic and non-syndromic v0.6638 PDHX Ain Roesley Gene: pdhx has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6638 PDHX Ain Roesley Phenotypes for gene: PDHX were changed from Lacticacidemia due to PDX1 deficiency MIM#245349 to Lacticacidemia due to PDX1 deficiency MIM#245349
Intellectual disability syndromic and non-syndromic v0.6638 PDHX Ain Roesley Phenotypes for gene: PDHX were changed from to Lacticacidemia due to PDX1 deficiency MIM#245349
Intellectual disability syndromic and non-syndromic v0.6637 PDHX Ain Roesley Publications for gene: PDHX were set to
Intellectual disability syndromic and non-syndromic v0.6637 PDHX Ain Roesley Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6636 PDHX Ain Roesley reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Lacticacidemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.546 ALS2 Lauren Thomas reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24315819, 12601111, 30128655, 33409823; Phenotypes: Infantile onset ascending spastic paralysis (MIM#607225), Juvenile amyotrophic lateral sclerosis 2 (MIM#205100), Juvenile primary lateral sclerosis (MIM#606353); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6636 PDHA1 Ain Roesley Publications for gene: PDHA1 were set to 23021068
Intellectual disability syndromic and non-syndromic v0.6636 PDHA1 Ain Roesley Marked gene: PDHA1 as ready
Intellectual disability syndromic and non-syndromic v0.6636 PDHA1 Ain Roesley Gene: pdha1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6636 PDHA1 Ain Roesley Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
Intellectual disability syndromic and non-syndromic v0.6635 PDHA1 Ain Roesley Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
Intellectual disability syndromic and non-syndromic v0.6635 PDHA1 Ain Roesley Publications for gene: PDHA1 were set to
Intellectual disability syndromic and non-syndromic v0.6635 PDHA1 Ain Roesley Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.6634 PDHA1 Ain Roesley changed review comment from: In subjects surviving past 6 months, a broad range of intellectual outcomes was observed.; to: ID is a feature of this condition.

PMID:23021068 "In subjects surviving past 6 months, a broad range of intellectual outcomes was observed."
Intellectual disability syndromic and non-syndromic v0.6634 PDHA1 Ain Roesley reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23021068; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v1.2090 SLC24A1 Sangavi Sivagnanasundram reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008419; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2090 C1QTNF5 Sangavi Sivagnanasundram reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008422; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6634 MED16 Zornitza Stark Marked gene: MED16 as ready
Intellectual disability syndromic and non-syndromic v0.6634 MED16 Zornitza Stark Gene: med16 has been classified as Green List (High Evidence).
Mendeliome v1.2090 EPHB2 Sangavi Sivagnanasundram reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008367; Phenotypes: bleeding disorder, platelet-type, 22 MONDO:0032765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALG1 Lauren Thomas reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382, 24157261, 14973782; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2090 F12 Sangavi Sivagnanasundram reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2090 HOXA11 Sangavi Sivagnanasundram reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832; Phenotypes: radioulnar synostosis with amegakaryocytic thrombocytopenia 1 MONDO:0024558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2090 CCDC115 Sangavi Sivagnanasundram reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008374; Phenotypes: CCDC115-CDG MONDO:0014789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.138 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, no OMIM #
Defects of intrinsic and innate immunity v0.138 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, no OMIM #
Defects of intrinsic and innate immunity v0.137 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, no OMIM #
Mendeliome v1.2090 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, no OMIM #
Mendeliome v1.2090 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from Immunodeficiency, no OMIM # to Immune dysregulation, no OMIM #
Mendeliome v1.2089 IRAK2 Chirag Patel changed review comment from: 2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported.

Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens).

Paper does not comment on reasons for disease in biallelic and mono-allelic form.
Sources: Literature; to: PMID: 39299377
2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported. Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens). Paper does not comment on reasons for disease in biallelic and mono-allelic form.


Preprint paper:
2 individuals with immune dysregulation (1 x systemic lupus erythematosus and 1 x autoinflammatory disease) with same homozgyous exon 2 deletion in IRAK2 gene found on WES testing and confirmed with Sanger sequencing. Unaffected family members in trio were heterozygous for variant. Exon 2 encodes a proportion of the death domain, a critical protein domain for Myddosome assembly.

The patients exhibited aberrantly upregulated type I interferon (IFN) response following LPS stimulation, which was further confirmed in bone marrow-derived macrophages (BMDMs) in mice. RNA sequencing analysis indicated that PBMCs from the two patients consistently exhibited defects in activating NFkb signaling in response to LPS or R848 stimulation, as well as impaired activation of the MAPK signaling pathway. RNA sequencing demonstrated that BMDMs from Irak2 ∆ex2/∆ex2 mice exhibited defects in NFkb and MAPK signaling pathways, similar to patients’ PBMCs.
Autoinflammatory Disorders v1.53 IRAK2 Chirag Patel gene: IRAK2 was added
gene: IRAK2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: IRAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRAK2 were set to PMID: 39299377
Phenotypes for gene: IRAK2 were set to Immune dysregulation, no OMIM #
Review for gene: IRAK2 was set to RED
Added comment: PMID: 39299377
2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported. Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens). Paper does not comment on reasons for disease in biallelic and mono-allelic form.


Preprint paper:
2 individuals with immune dysregulation (1 x systemic lupus erythematosus and 1 x autoinflammatory disease) with same homozgyous exon 2 deletion in IRAK2 gene found on WES testing and confirmed with Sanger sequencing. Unaffected family members in trio were heterozygous for variant. Exon 2 encodes a proportion of the death domain, a critical protein domain for Myddosome assembly.

The patients exhibited aberrantly upregulated type I interferon (IFN) response following LPS stimulation, which was further confirmed in bone marrow-derived macrophages (BMDMs) in mice. RNA sequencing analysis indicated that PBMCs from the two patients consistently exhibited defects in activating NFkb signaling in response to LPS or R848 stimulation, as well as impaired activation of the MAPK signaling pathway. RNA sequencing demonstrated that BMDMs from Irak2 ∆ex2/∆ex2 mice exhibited defects in NFkb and MAPK signaling pathways, similar to patients’ PBMCs.
Sources: Literature
Defects of intrinsic and innate immunity v0.136 IRAK2 Chirag Patel Phenotypes for gene: IRAK2 were changed from to Immune dysregulation, no OMIM #
Defects of intrinsic and innate immunity v0.135 IRAK2 Chirag Patel changed review comment from: 2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported.

Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens).

Paper does not comment on reasons for disease in biallelic and mono-allelic form.
Sources: Literature; to: PMID: 39299377
2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported. Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens). Paper does not comment on reasons for disease in biallelic and mono-allelic form.


Preprint paper:
2 individuals with immune dysregulation (1 x systemic lupus erythematosus and 1 x autoinflammatory disease) with same homozgyous exon 2 deletion in IRAK2 gene found on WES testing and confirmed with Sanger sequencing. Unaffected family members in trio were heterozygous for variant. Exon 2 encodes a proportion of the death domain, a critical protein domain for Myddosome assembly.

The patients exhibited aberrantly upregulated type I interferon (IFN) response following LPS stimulation, which was further confirmed in bone marrow-derived macrophages (BMDMs) in mice. RNA sequencing analysis indicated that PBMCs from the two patients consistently exhibited defects in activating NFkb signaling in response to LPS or R848 stimulation, as well as impaired activation of the MAPK signaling pathway. RNA sequencing demonstrated that BMDMs from Irak2 ∆ex2/∆ex2 mice exhibited defects in NFkb and MAPK signaling pathways, similar to patients’ PBMCs.
Mendeliome v1.2089 WISP3 Sangavi Sivagnanasundram reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008442; Phenotypes: progressive pseudorheumatoid arthropathy of childhood MONDO:0008827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2089 WDR60 Sangavi Sivagnanasundram reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008443; Phenotypes: short-rib thoracic dysplasia 8 with or without polydactyly MONDO:0014214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 ALDH5A1 Lauren Thomas reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538, 32887777; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.280 ICK Zornitza Stark Marked gene: ICK as ready
Polydactyly v0.280 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Polydactyly v0.280 ICK Zornitza Stark Phenotypes for gene: ICK were changed from to Endocrine-cerebroosteodysplasia, MIM# 612651
Polydactyly v0.279 ICK Zornitza Stark Mode of inheritance for gene: ICK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.278 ICK Zornitza Stark edited their review of gene: ICK: Changed phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651
Polydactyly v0.278 ICK Zornitza Stark reviewed gene: ICK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2089 IRAK2 Chirag Patel gene: IRAK2 was added
gene: IRAK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IRAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRAK2 were set to PMID: 39299377
Phenotypes for gene: IRAK2 were set to Immunodeficiency, no OMIM #
Review for gene: IRAK2 was set to RED
Added comment: 2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported.

Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens).

Paper does not comment on reasons for disease in biallelic and mono-allelic form.
Sources: Literature
Defects of intrinsic and innate immunity v0.135 IRAK2 Chirag Patel edited their review of gene: IRAK2: Changed phenotypes: Immunodeficiency, no OMIM #
Defects of intrinsic and innate immunity v0.135 IRAK2 Chirag Patel gene: IRAK2 was added
gene: IRAK2 was added to Defects of innate immunity. Sources: Literature
Mode of inheritance for gene: IRAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRAK2 were set to PMID: 39299377
Review for gene: IRAK2 was set to RED
Added comment: 2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported.

Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens).

Paper does not comment on reasons for disease in biallelic and mono-allelic form.
Sources: Literature
Prepair 1000+ v1.546 INSR Andrew Coventry reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34965699, 11735220, 12023989, 13302174, 10084586; Phenotypes: Donohue syndrome MIM#246200, Rabson-Mendenhall syndrome MIM#262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6634 PDGFRB Ain Roesley Publications for gene: PDGFRB were set to 31710779; 35221873
Intellectual disability syndromic and non-syndromic v0.6634 PDGFRB Ain Roesley Phenotypes for gene: PDGFRB were changed from Kosaki overgrowth syndrome MIM#616592 to Kosaki overgrowth syndrome MIM#616592
Intellectual disability syndromic and non-syndromic v0.6633 PDGFRB Ain Roesley Publications for gene: PDGFRB were set to
Intellectual disability syndromic and non-syndromic v0.6633 PDGFRB Ain Roesley Phenotypes for gene: PDGFRB were changed from to Kosaki overgrowth syndrome MIM#616592
Intellectual disability syndromic and non-syndromic v0.6633 PDGFRB Ain Roesley Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6632 PDGFRB Ain Roesley Marked gene: PDGFRB as ready
Intellectual disability syndromic and non-syndromic v0.6632 PDGFRB Ain Roesley Gene: pdgfrb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6632 PDGFRB Ain Roesley reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710779, 35221873; Phenotypes: Kosaki overgrowth syndrome MIM#616592; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.2088 MARK2 Chirag Patel Classified gene: MARK2 as Green List (high evidence)
Mendeliome v1.2088 MARK2 Chirag Patel Gene: mark2 has been classified as Green List (High Evidence).
Mendeliome v1.2087 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Mode of pathogenicity for gene: MARK2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6632 PCNT Ain Roesley reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 34978779; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II MIM#210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.2086 DTNA Chirag Patel Classified gene: DTNA as Green List (high evidence)
Mendeliome v1.2086 DTNA Chirag Patel Gene: dtna has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.77 DTNA Chirag Patel Classified gene: DTNA as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.77 DTNA Chirag Patel Gene: dtna has been classified as Green List (High Evidence).
Mendeliome v1.2085 DTNA Chirag Patel reviewed gene: DTNA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36799992; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rhabdomyolysis and Metabolic Myopathy v1.15 DTNA Chirag Patel Classified gene: DTNA as Amber List (moderate evidence)
Rhabdomyolysis and Metabolic Myopathy v1.15 DTNA Chirag Patel Gene: dtna has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.76 DTNA Chirag Patel gene: DTNA was added
gene: DTNA was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DTNA were set to PMID: 36799992
Phenotypes for gene: DTNA were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322
Mode of pathogenicity for gene: DTNA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: DTNA was set to GREEN
Added comment: 12 individuals from 4 unrelated families with 2 different monoallelic DTNA variants in exon 18 and affecting the coiled-coil domain of α-dystrobrevin (DTNA). DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype.

Clinical features with onset between 1st and 4th decades included: myalgia, muscle cramps associated with physical activity, exercise intolerance, and increased serum CK (11/12). Most patients have mild symptoms, only 3 had mild proximal muscle weakness of the lower limbs, and 1 had episode of rhabdomyolysis @20yrs. Muscle biopsies in 8 individuals showed mild myopathic and/or dystrophic features.

The 2 variants (p.Glu529Lys and p.Gln523_Glu529del) were found by targeted exome sequencing and confirmed by Sanger sequencing. They segregated with the disorder in the families and were absent in gnomAD. Immunofluorescent analysis of patient muscle samples showed decreased DTNA immunoreactivity at the sarcolemma, as well as variably reduced immunoreactivity of several other dystrophin-glycoprotein complex (DGC) proteins, suggesting that the DTNA variants resulted in overall destabilization of the DG complex within skeletal muscle.
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v1.14 DTNA Chirag Patel gene: DTNA was added
gene: DTNA was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DTNA were set to PMID: 36799992
Phenotypes for gene: DTNA were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322
Mode of pathogenicity for gene: DTNA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: DTNA was set to GREEN
Added comment: 12 individuals from 4 unrelated families with 2 different monoallelic DTNA variants in exon 18 and affecting the coiled-coil domain of α-dystrobrevin (DTNA). DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype.

Clinical features with onset between 1st and 4th decades included: myalgia, muscle cramps associated with physical activity, exercise intolerance, and increased serum CK (11/12). Most patients have mild symptoms, only 3 had mild proximal muscle weakness of the lower limbs, and 1 had episode of rhabdomyolysis @20yrs. Muscle biopsies in 8 individuals showed mild myopathic and/or dystrophic features.

The 2 variants (p.Glu529Lys and p.Gln523_Glu529del) were found by targeted exome sequencing and confirmed by Sanger sequencing. They segregated with the disorder in the families and were absent in gnomAD. Immunofluorescent analysis of patient muscle samples showed decreased DTNA immunoreactivity at the sarcolemma, as well as variably reduced immunoreactivity of several other dystrophin-glycoprotein complex (DGC) proteins, suggesting that the DTNA variants resulted in overall destabilization of the DG complex within skeletal muscle.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6632 PCCA Ain Roesley Mode of inheritance for gene: PCCA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6631 PCCA Ain Roesley Mode of inheritance for gene: PCCA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6632 PCCB Ain Roesley Mode of inheritance for gene: PCCB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6632 PCCB Ain Roesley Publications for gene: PCCB were set to 22593918
Intellectual disability syndromic and non-syndromic v0.6631 PCCB Ain Roesley Publications for gene: PCCB were set to
Intellectual disability syndromic and non-syndromic v0.6631 PCCA Ain Roesley Publications for gene: PCCA were set to 22593918
Intellectual disability syndromic and non-syndromic v0.6631 PCCA Ain Roesley Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6631 PCCB Ain Roesley Phenotypes for gene: PCCB were changed from Propionicacidemia MIM#606054 to Propionicacidemia MIM#606054
Intellectual disability syndromic and non-syndromic v0.6631 PCCB Ain Roesley Phenotypes for gene: PCCB were changed from to Propionicacidemia MIM#606054
Intellectual disability syndromic and non-syndromic v0.6630 PCCB Ain Roesley Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6631 PCDH19 Ain Roesley Publications for gene: PCDH19 were set to 28669061
Intellectual disability syndromic and non-syndromic v0.6630 PCCA Ain Roesley Publications for gene: PCCA were set to
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Marked gene: PCDH19 as ready
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Gene: pcdh19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6630 PCCA Ain Roesley Phenotypes for gene: PCCA were changed from to Propionicacidemia MIM#606054
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Phenotypes for gene: PCDH19 were changed from to Developmental and epileptic encephalopathy 9 MIM#300088
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Publications for gene: PCDH19 were set to
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Mode of inheritance for gene: PCDH19 was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.6629 PCDH19 Ain Roesley reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669061; Phenotypes: Developmental and epileptic encephalopathy 9 MIM#300088; Mode of inheritance: Other; Current diagnostic: yes
Genetic Epilepsy v1.69 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6629 PCCB Ain Roesley Marked gene: PCCB as ready
Intellectual disability syndromic and non-syndromic v0.6629 PCCB Ain Roesley Gene: pccb has been classified as Green List (High Evidence).
Autism v0.200 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Autism. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6629 PCCB Ain Roesley reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 22593918; Phenotypes: Propionicacidemia MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v1.69 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6629 MARK2 Chirag Patel Classified gene: MARK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6629 MARK2 Chirag Patel Gene: mark2 has been classified as Green List (High Evidence).
Autism v0.200 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Autism. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6628 PCCA Ain Roesley Marked gene: PCCA as ready
Intellectual disability syndromic and non-syndromic v0.6628 PCCA Ain Roesley Gene: pcca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6628 PCCA Ain Roesley reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22593918; Phenotypes: Propionicacidemia MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6628 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Congenital Heart Defect v0.420 ROCK2 Sangavi Sivagnanasundram gene: ROCK2 was added
gene: ROCK2 was added to Congenital Heart Defect. Sources: ClinGen
Mode of inheritance for gene: ROCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROCK2 were set to 28554332, 30622330, 31941532
Phenotypes for gene: ROCK2 were set to congenital heart disease MONDO:0005453
Review for gene: ROCK2 was set to AMBER
Added comment: Reported in 4 unrelated individuals however classified as LIMITED by ClinGen Congenital Heart Disease GCEP on 03/09/2024 - https://search.clinicalgenome.org/CCID:008432
Sources: ClinGen
Cataract v0.373 KAT2B Ain Roesley Marked gene: KAT2B as ready
Cataract v0.373 KAT2B Ain Roesley Gene: kat2b has been classified as Red List (Low Evidence).
Mendeliome v1.2085 KAT2B Ain Roesley Marked gene: KAT2B as ready
Mendeliome v1.2085 KAT2B Ain Roesley Gene: kat2b has been classified as Red List (Low Evidence).
Cataract v0.373 KAT2B Ain Roesley gene: KAT2B was added
gene: KAT2B was added to Cataract. Sources: Literature
Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KAT2B were set to 39366742
Phenotypes for gene: KAT2B were set to cataract MONDO:0005129, KAT2B-related
Review for gene: KAT2B was set to RED
gene: KAT2B was marked as current diagnostic
Added comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant

both have steroid-resistant nephrotic syndrome and bilateral cataract
only 1 has FSGS
Sources: Literature
Proteinuria v0.229 KAT2B Ain Roesley Marked gene: KAT2B as ready
Proteinuria v0.229 KAT2B Ain Roesley Gene: kat2b has been classified as Red List (Low Evidence).
Mendeliome v1.2085 KAT2B Ain Roesley Phenotypes for gene: KAT2B were changed from steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related; cataract MONDO:0005129, KAT2B-related
Mendeliome v1.2084 ROCK2 Sangavi Sivagnanasundram gene: ROCK2 was added
gene: ROCK2 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: ROCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROCK2 were set to 28554332, 30622330, 31941532
Phenotypes for gene: ROCK2 were set to congenital heart disease MONDO:0005453
Review for gene: ROCK2 was set to AMBER
Added comment: Reported in 4 unrelated individuals however classified as LIMITED by ClinGen Congenital Heart Disease GCEP on 03/09/2024 - https://search.clinicalgenome.org/CCID:008432
Sources: ClinGen
Proteinuria v0.229 KAT2B Ain Roesley gene: KAT2B was added
gene: KAT2B was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KAT2B were set to 39366742
Phenotypes for gene: KAT2B were set to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related
Review for gene: KAT2B was set to RED
gene: KAT2B was marked as current diagnostic
Added comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant

both have steroid-resistant nephrotic syndrome and bilateral cataract
only 1 has FSGS
Sources: Literature
Mendeliome v1.2084 KAT2B Ain Roesley gene: KAT2B was added
gene: KAT2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KAT2B were set to 39366742
Phenotypes for gene: KAT2B were set to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related
Review for gene: KAT2B was set to RED
gene: KAT2B was marked as current diagnostic
Added comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant

both have steroid-resistant nephrotic syndrome and bilateral cataract
only 1 has FSGS
Sources: Literature
Deafness_Isolated v1.67 IKZF2 Ain Roesley Marked gene: IKZF2 as ready
Deafness_Isolated v1.67 IKZF2 Ain Roesley Gene: ikzf2 has been classified as Green List (High Evidence).
Deafness_Isolated v1.67 IKZF2 Ain Roesley Classified gene: IKZF2 as Green List (high evidence)
Deafness_Isolated v1.67 IKZF2 Ain Roesley Gene: ikzf2 has been classified as Green List (High Evidence).
Mendeliome v1.2083 IKZF2 Ain Roesley edited their review of gene: IKZF2: Changed rating: GREEN
Deafness_Isolated v1.66 IKZF2 Ain Roesley gene: IKZF2 was added
gene: IKZF2 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF2 were set to PMID: 39406892
Phenotypes for gene: IKZF2 were set to nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related
Review for gene: IKZF2 was set to GREEN
gene: IKZF2 was marked as current diagnostic
Added comment: 3 families with isolated hearing loss + missense variants located within the DNA binding domain (ZF2 and ZF3 motifs).
One other missense reported in the same region in an individual with syndromic hearing loss

Variants segregated in all 3 families except for family A where the father's twin sister had milder hearing loss and is WT/WT

protein expression and ability to repress IL2 expression via luciferase assay were conducted, demonstrating LoF
Sources: Literature
Mendeliome v1.2083 IKZF2 Ain Roesley reviewed gene: IKZF2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 39406892; Phenotypes: nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6627 UBTF Chirag Patel reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39366741; Phenotypes: Global developmental delay without neuroregression; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.546 IMPG2 Andrew Coventry changed review comment from: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).
- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.
PMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified.
- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.

Further studies and evidence:
Mouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)
Functional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.

ClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).

RP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.; to: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).
- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.
PMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified.
- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.

Further studies and evidence:
Mouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)
Functional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.

ClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants curated were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).

RP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.
Prepair 1000+ v1.546 IMPG2 Andrew Coventry reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20673862, 32242237, 37806544, 36206764, 38217426, 32817297, 24876279, 31264916, 34990796; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 LAMA3 Lisa Norbart reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional 2B, severe (MIM#619784), 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660), Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 IFNGR1 Andrew Coventry changed review comment from: Multiple families with recessive disease reported, reviewed in PMID 15589309.
Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Recessive deficiency is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Animal models present.

Note: AD condition associated with this gene - Immunodeficiency 27B, mycobacteriosis, MIM#615978.
Dominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of non-functional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG. Common deletions at and around nucleotide 818. (PMID: 10192386); to: Multiple families with recessive disease reported, reviewed in PMID 15589309.
Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Recessive deficiency is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Animal models present.

Note: AD condition associated with this gene - Immunodeficiency 27B, mycobacteriosis, MIM#615978.
Dominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of non-functional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG. Deletions including nucleotide 818 reported. (PMID: 10192386)
Prepair 1000+ v1.546 IFNGR1 Andrew Coventry reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15589309, 10192386, 7815885, 12244188, 10811850, 9389728; Phenotypes: Immunodeficiency 27A, mycobacteriosis, MIM#209950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GTPBP3 Andrew Coventry reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v1.65 ANKRD24 Ain Roesley Marked gene: ANKRD24 as ready
Deafness_Isolated v1.65 ANKRD24 Ain Roesley Gene: ankrd24 has been classified as Red List (Low Evidence).
Mendeliome v1.2083 ANKRD24 Ain Roesley Marked gene: ANKRD24 as ready
Mendeliome v1.2083 ANKRD24 Ain Roesley Gene: ankrd24 has been classified as Red List (Low Evidence).
Mendeliome v1.2083 ANKRD24 Ain Roesley gene: ANKRD24 was added
gene: ANKRD24 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANKRD24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKRD24 were set to PMID: 39434538
Phenotypes for gene: ANKRD24 were set to sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related
Review for gene: ANKRD24 was set to RED
gene: ANKRD24 was marked as current diagnostic
Added comment: 1 consanguineous family with postlingual, moderate-to-severe autosomal recessive SNHL

2 affecteds homozygous for c.1934_1937del; (p.Thr645Lysfs*52), which is NMD-predicted
Sources: Literature
Deafness_Isolated v1.65 ANKRD24 Ain Roesley gene: ANKRD24 was added
gene: ANKRD24 was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: ANKRD24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKRD24 were set to PMID: 39434538
Phenotypes for gene: ANKRD24 were set to sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related
Review for gene: ANKRD24 was set to RED
gene: ANKRD24 was marked as current diagnostic
Added comment: 1 consanguineous family with postlingual, moderate-to-severe autosomal recessive SNHL

2 affecteds homozygous for c.1934_1937del; (p.Thr645Lysfs*52), which is NMD-predicted
Sources: Literature
Genetic Epilepsy v1.68 DALRD3 Sangavi Sivagnanasundram reviewed gene: DALRD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39482881; Phenotypes: developmental and epileptic encephalopathy, 86 MONDO:0030054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2082 DALRD3 Sangavi Sivagnanasundram reviewed gene: DALRD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39482881; Phenotypes: developmental and epileptic encephalopathy, 86 MONDO:0030054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2082 ZNF862 Ain Roesley Marked gene: ZNF862 as ready
Mendeliome v1.2082 ZNF862 Ain Roesley Gene: znf862 has been classified as Red List (Low Evidence).
Mendeliome v1.2082 ZNF862 Ain Roesley gene: ZNF862 was added
gene: ZNF862 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF862 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF862 were set to PMID: 35142290
Phenotypes for gene: ZNF862 were set to hereditary gingival fibromatosis MONDO:0016070 , ZNF862 -related
Review for gene: ZNF862 was set to RED
gene: ZNF862 was marked as current diagnostic
Added comment: 13 individuals in a large multi-generational family with hereditary gingival fibromatosis

missense variant with 5 hets in gnomad v4, very low conservation and benign REVEL score
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v1.13 SLC52A1 Bryony Thompson Marked gene: SLC52A1 as ready
Rhabdomyolysis and Metabolic Myopathy v1.13 SLC52A1 Bryony Thompson Gene: slc52a1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.315 LSM7 Sangavi Sivagnanasundram reviewed gene: LSM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 39420558; Phenotypes: leukodystrophy MONDO:0019046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2081 LSM7 Sangavi Sivagnanasundram reviewed gene: LSM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 39420558; Phenotypes: leukodystrophy MONDO:0019046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.291 LAMA3 Ain Roesley Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type (MIM#226700) to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Amelogenesis imperfecta v1.11 LAMA3 Ain Roesley Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660 to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Mendeliome v1.2081 LAMA3 Ain Roesley Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Epidermolysis bullosa v1.17 LAMA3 Ain Roesley Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Intellectual disability syndromic and non-syndromic v0.6627 SGSM3 Sangavi Sivagnanasundram reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39390489; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), SGSM3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2080 SGSM3 Sangavi Sivagnanasundram reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39390489; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), SGSM3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v1.13 SLC52A1 Bryony Thompson Classified gene: SLC52A1 as Amber List (moderate evidence)
Rhabdomyolysis and Metabolic Myopathy v1.13 SLC52A1 Bryony Thompson Added comment: Comment on list classification: MADD phenotype can mimic mitochondrial myopathy
Rhabdomyolysis and Metabolic Myopathy v1.13 SLC52A1 Bryony Thompson Gene: slc52a1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.11 SLC52A1 Bryony Thompson gene: SLC52A1 was added
gene: SLC52A1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC52A1 were set to 37510312; 29122468; 21089064
Phenotypes for gene: SLC52A1 were set to Maternal riboflavin deficiency MONDO:0014013
Skeletal dysplasia v0.294 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Skeletal dysplasia v0.294 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.294 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Skeletal dysplasia v0.293 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.292 TNFRSF11A Zornitza Stark edited their review of gene: TNFRSF11A: Changed phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301, Osteolysis, familial expansile, MIM# 174810; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v1.10 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Rhabdomyolysis and Metabolic Myopathy v1.10 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.10 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v1.10 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.9 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 29193829; 31868069; 29053833; 26072523
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Review for gene: SLC52A3 was set to GREEN
gene: SLC52A3 was marked as current diagnostic
Added comment: Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v1.8 SLC52A2 Bryony Thompson Marked gene: SLC52A2 as ready
Rhabdomyolysis and Metabolic Myopathy v1.8 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.8 SLC52A2 Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v1.8 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.7 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 29193829; 31868069; 29053833; 26072523
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-van Laere syndrome 2 MONDO:0013867
Review for gene: SLC52A2 was set to GREEN
gene: SLC52A2 was marked as current diagnostic
Added comment: Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy.
Sources: Expert list
Mendeliome v1.2080 GMNN Zornitza Stark changed review comment from: Three unrelated individuals reported, all variants in exon 2 (first coding exon).; to: Three unrelated individuals reported, all variants in exon 2 (first coding exon), leading to the expression of a stable truncated protein.
Immunological disorders_SuperPanel v9.325 Bryony Thompson Changed child panels to: Bone Marrow Failure; Combined Immunodeficiency; Systemic Autoinflammatory Disease_Periodic Fever; Phagocyte Defects; Common Variable Immunodeficiency; Severe Combined Immunodeficiency (absent T present B cells); Severe Combined Immunodeficiency (absent T absent B cells); Susceptibility to Fungal Infections; Hereditary angioedema; Hyper-IgE syndrome; Disorders of immune dysregulation; Predominantly Antibody Deficiency; Defects of innate immunity; Susceptibility to Viral Infections; Inflammatory bowel disease; Complement Deficiencies; Mendelian susceptibility to Immune Disorders
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mitochondrial disease v0.947 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Mendeliome v1.2080 LINC01578 Zornitza Stark Marked gene: LINC01578 as ready
Mendeliome v1.2080 LINC01578 Zornitza Stark Gene: linc01578 has been classified as Green List (High Evidence).
Mendeliome v1.2080 LINC01578 Zornitza Stark Publications for gene: LINC01578 were set to
Mendeliome v1.2079 LINC01578 Zornitza Stark edited their review of gene: LINC01578: Changed publications: 39442041
Mendeliome v1.2079 LINC01578 Zornitza Stark Classified gene: LINC01578 as Green List (high evidence)
Mendeliome v1.2079 LINC01578 Zornitza Stark Gene: linc01578 has been classified as Green List (High Evidence).
Mendeliome v1.2078 LINC01578 Zornitza Stark gene: LINC01578 was added
gene: LINC01578 was added to Mendeliome. Sources: Literature
SV/CNV, new gene name tags were added to gene: LINC01578.
Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LINC01578 were set to Neurodevelopmental disorder, MONDO:0700092, CHASERR-related
Review for gene: LINC01578 was set to GREEN
Added comment: CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Three unrelated children reported with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis, indicating bidirectional dosage sensitivity in human disease.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6627 LINC01578 Zornitza Stark Tag SV/CNV tag was added to gene: LINC01578.
Intellectual disability syndromic and non-syndromic v0.6627 LINC01578 Zornitza Stark Marked gene: LINC01578 as ready
Intellectual disability syndromic and non-syndromic v0.6627 LINC01578 Zornitza Stark Gene: linc01578 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6627 LINC01578 Zornitza Stark Classified gene: LINC01578 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6627 LINC01578 Zornitza Stark Gene: linc01578 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6626 LINC01578 Zornitza Stark gene: LINC01578 was added
gene: LINC01578 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
new gene name tags were added to gene: LINC01578.
Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LINC01578 were set to 39442041
Phenotypes for gene: LINC01578 were set to Neurodevelopmental disorder, MONDO:0700092, CHASERR-related
Review for gene: LINC01578 was set to GREEN
Added comment: CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Three unrelated children reported with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis, indicating bidirectional dosage sensitivity in human disease.
Sources: Literature
Mendeliome v1.2077 RNU5B-1 Zornitza Stark Marked gene: RNU5B-1 as ready
Mendeliome v1.2077 RNU5B-1 Zornitza Stark Gene: rnu5b-1 has been classified as Green List (High Evidence).
Mendeliome v1.2077 RNU5B-1 Zornitza Stark Classified gene: RNU5B-1 as Green List (high evidence)
Mendeliome v1.2077 RNU5B-1 Zornitza Stark Gene: rnu5b-1 has been classified as Green List (High Evidence).
Mendeliome v1.2076 RNU5B-1 Zornitza Stark gene: RNU5B-1 was added
gene: RNU5B-1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5B-1 were set to https://www.medrxiv.org/content/10.1101/2024.10.04.24314692v1.full.pdf; https://www.medrxiv.org/content/10.1101/2024.10.07.24314689v1
Phenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related
Review for gene: RNU5B-1 was set to GREEN
Added comment: 20 individuals reported in two preprints with de novo variants in this gene and a neurodevelopmental phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6625 RNU5B-1 Zornitza Stark Marked gene: RNU5B-1 as ready
Intellectual disability syndromic and non-syndromic v0.6625 RNU5B-1 Zornitza Stark Gene: rnu5b-1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6625 RNU5B-1 Zornitza Stark Phenotypes for gene: RNU5B-1 were changed from to Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related
Intellectual disability syndromic and non-syndromic v0.6624 RNU5B-1 Zornitza Stark Classified gene: RNU5B-1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6624 RNU5B-1 Zornitza Stark Gene: rnu5b-1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6623 RNU5B-1 Zornitza Stark edited their review of gene: RNU5B-1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related
Intellectual disability syndromic and non-syndromic v0.6623 RNU5B-1 Zornitza Stark gene: RNU5B-1 was added
gene: RNU5B-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5B-1 were set to https://www.medrxiv.org/content/10.1101/2024.10.04.24314692v1.full.pdf; https://www.medrxiv.org/content/10.1101/2024.10.07.24314689v1
Review for gene: RNU5B-1 was set to GREEN
Added comment: 20 individuals reported in two preprints with de novo variants in this gene and a neurodevelopmental phenotype.
Sources: Literature
Skeletal dysplasia v0.292 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Skeletal dysplasia v0.292 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.292 TBXAS1 Zornitza Stark Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome 231095 to Ghosal hematodiaphyseal syndrome MIM#231095
Skeletal dysplasia v0.291 TBXAS1 Zornitza Stark Publications for gene: TBXAS1 were set to
Skeletal dysplasia v0.290 TBXAS1 Zornitza Stark Mode of inheritance for gene: TBXAS1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6622 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6621 MBOAT7 Zornitza Stark reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability MIM#617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GLE1 Kate Scarff reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925, 32537934; Phenotypes: Congenital arthrogryposis with anterior horn cell disease, MIM #611890, Lethal congenital contracture syndrome 1, MIM #253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GDI1 Kate Scarff reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41, MIM #300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.546 GDF1 Kate Scarff reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32144877, 20413652, 28991257; Phenotypes: Right atrial isomerism (Ivemark), MIM #208530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 GDAP1 Kate Scarff reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301711, 16172208, 21753178, 21365284, 20232219, 11743580; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.546 FTCD Kate Scarff reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29178637; Phenotypes: Glutamate formiminotransferase deficiency, MIM #229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.546 FMR1 Kate Scarff reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301558, 28176767, 29178241; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Optic Atrophy v1.45 KIF5A Bryony Thompson Marked gene: KIF5A as ready
Optic Atrophy v1.45 KIF5A Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence).
Prepair 1000+ v1.546 FBXO7 Kate Scarff reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34396589, 20301402, 18513678, 34781237, 19038853; Phenotypes: Parkinson disease 15, autosomal recessive, MIM #260300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.45 KIF5A Bryony Thompson Classified gene: KIF5A as Green List (high evidence)
Optic Atrophy v1.45 KIF5A Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence).
Optic Atrophy v1.44 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 35921593; 27463701
Phenotypes for gene: KIF5A were set to myoclonus, intractable, neonatal MONDO:0014979; Leber hereditary optic neuropathy MONDO:0010788
Mode of pathogenicity for gene: KIF5A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KIF5A was set to GREEN
Added comment: Optic atrophy has been reported as a feature of the NEIMY phenotype, and a missense variant has been reported in a family with LHON. Dominant negative effects and toxic gain-of-function are the mechanism of disease for this gene.
Sources: Literature
Prepair 1000+ v1.546 EIF2B2 Kate Scarff reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14566705, 21484434, 28041799, 11704758; Phenotypes: Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2075 SPATA22 Zornitza Stark Phenotypes for gene: SPATA22 were changed from Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143 to Spermatogenic failure 96, MIM#621001; Premature ovarian failure 25, MIM#621002
Mendeliome v1.2074 SPATA22 Zornitza Stark edited their review of gene: SPATA22: Changed phenotypes: Spermatogenic failure 96, MIM#621001, Premature ovarian failure 25, MIM#621002
Fetal anomalies v1.290 SRPK3 Zornitza Stark Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134
Fetal anomalies v1.289 SRPK3 Zornitza Stark edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134
Intellectual disability syndromic and non-syndromic v0.6621 SRPK3 Zornitza Stark Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134
Intellectual disability syndromic and non-syndromic v0.6620 SRPK3 Zornitza Stark edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134
Callosome v0.536 SRPK3 Zornitza Stark Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134
Callosome v0.535 SRPK3 Zornitza Stark edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134
Mendeliome v1.2074 SRPK3 Zornitza Stark Phenotypes for gene: SRPK3 were changed from Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related; Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related; Intellectual developmental disorder, X-linked, 114, MIM#301134
Mendeliome v1.2073 SRPK3 Zornitza Stark edited their review of gene: SRPK3: Changed phenotypes: Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related, Intellectual developmental disorder, X-linked, 114, MIM#301134
Prepair 1000+ v1.546 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Prepair 1000+ v1.546 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.546 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Prepair 1000+ v1.545 EFEMP2 Kate Scarff reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21563328, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, MIM #614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thyroid Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Schwannoma v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Sarcoma non-soft tissue v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Prostate Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Pituitary Tumour v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Parathyroid Tumour v1.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Paraganglioma_phaeochromocytoma v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Melanoma v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital
Pancreatic Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Medulloblastoma v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital
Ovarian Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Neuroblastoma v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Meningioma v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Kidney Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Endometrial Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Diffuse Gastric Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Colorectal Cancer and Polyposis v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Breast Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Basal Cell Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Prepair 1000+ v1.545 TMEM94 Lucy Spencer edited their review of gene: TMEM94: Changed publications: 30526868, 32825426
Prepair 1000+ v1.545 TMEM94 Lucy Spencer reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526868; Phenotypes: Intellectual developmental disorder with cardiac defects and dysmorphic facies MIM#618316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 DCDC2 Kate Scarff reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705, 27319779, 27469900, 36938759, 34155636; Phenotypes: Nephronophthisis 19, MIM #616217, Sclerosing cholangitis, neonatal, MIM #617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 CWC27 Kate Scarff reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36718996, 28285769, 31481716, 38956876, 34828430; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 PFKM Lucy Spencer reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 22364848; Phenotypes: Glycogen storage disease VII MIM#232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.545 OFD1 Lucy Spencer reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22619378, 31373179, 23033313, 16783569; Phenotypes: Joubert syndrome 10 MIM#300804, Simpson-Golabi-Behmel syndrome, type 2 MIM#300209, Retinitis pigmentosa 23 MIM#300424; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.545 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Prepair 1000+ v1.545 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.545 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio), 253010 (3) to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM#230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Prepair 1000+ v1.544 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Prepair 1000+ v1.543 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Prepair 1000+ v1.543 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.543 GOSR2 Zornitza Stark Phenotypes for gene: GOSR2 were changed from Epilepsy, progressive myoclonic 6, 614018 (3) to Epilepsy, progressive myoclonic 6 MIM#614018; Muscular dystrophy, congenital, with or without seizures MIM#620166
Prepair 1000+ v1.542 GOSR2 Zornitza Stark Publications for gene: GOSR2 were set to
Prepair 1000+ v1.541 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive, MIM# 604360 to Hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.540 CTSA Zornitza Stark Marked gene: CTSA as ready
Prepair 1000+ v1.540 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Prepair 1000+ v1.540 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from Galactosialidosis, 256540 (3) to Galactosialidosis MIM#256540
Prepair 1000+ v1.539 CTSA Zornitza Stark Publications for gene: CTSA were set to
Prepair 1000+ v1.538 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Prepair 1000+ v1.538 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.538 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Prepair 1000+ v1.537 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Prepair 1000+ v1.537 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.537 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome-3, 608629 (3) to Joubert syndrome 3 MIM#608629
Prepair 1000+ v1.536 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Prepair 1000+ v1.535 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Prepair 1000+ v1.535 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.535 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from Nephronophthisis 16, 615382 (3) to Nephronophthisis 16 MIM#615382
Prepair 1000+ v1.534 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Prepair 1000+ v1.533 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Prepair 1000+ v1.533 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.533 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, 615986 (3) to Bardet-Biedl syndrome 9 MIM#615986
Prepair 1000+ v1.532 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299
Prepair 1000+ v1.530 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Prepair 1000+ v1.529 CASR Zornitza Stark Marked gene: CASR as ready
Prepair 1000+ v1.529 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Prepair 1000+ v1.529 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal, 239200 (3) to Hyperparathyroidism, neonatal MIM#239200
Prepair 1000+ v1.528 CASR Zornitza Stark Publications for gene: CASR were set to
Prepair 1000+ v1.527 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Prepair 1000+ v1.527 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.527 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Prepair 1000+ v1.526 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Prepair 1000+ v1.526 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Green List (High Evidence).
Prepair 1000+ v1.526 CCDC39 Zornitza Stark Publications for gene: CCDC39 were set to
Prepair 1000+ v1.525 FYCO1 Zornitza Stark Tag review tag was added to gene: FYCO1.
Prepair 1000+ v1.525 SPG11 Lucy Spencer edited their review of gene: SPG11: Changed phenotypes: Hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.525 SPG11 Lucy Spencer changed review comment from: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

ClinGen lumps all 3 conditions under spastic paraplegia 11

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).; to: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).

These 3 conditions represent a spectrum of disease and ClinGen lumps all 3 conditions under hereditary spastic paraplegia 11 MONDO:0011445
Prepair 1000+ v1.525 CTPS1 Zornitza Stark Tag founder tag was added to gene: CTPS1.
Prepair 1000+ v1.525 DMD Zornitza Stark Marked gene: DMD as ready
Prepair 1000+ v1.525 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Prepair 1000+ v1.525 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200 (3) to Becker muscular dystrophy MIM#300376; Duchenne muscular dystrophy MIM#310200
Prepair 1000+ v1.524 DMD Zornitza Stark Publications for gene: DMD were set to
Prepair 1000+ v1.523 DMD Zornitza Stark Tag SV/CNV tag was added to gene: DMD.
Prepair 1000+ v1.523 CTNS Zornitza Stark Marked gene: CTNS as ready
Prepair 1000+ v1.523 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Prepair 1000+ v1.523 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis, nephropathic, 219800 (3) to Cystinosis, nephropathic MIM#219800; Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, atypical nephropathic MIM#219800
Prepair 1000+ v1.522 CTNS Zornitza Stark Publications for gene: CTNS were set to
Prepair 1000+ v1.521 CTNS Zornitza Stark Tag SV/CNV tag was added to gene: CTNS.
Prepair 1000+ v1.521 TSPYL1 Zornitza Stark Tag review tag was added to gene: TSPYL1.
Prepair 1000+ v1.521 GOSR2 Andrew Coventry reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29855340 33639315 1549339 23449775 24458321 30838261 32105965; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, Muscular dystrophy, congenital, with or without seizures MIM#620166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.521 GLB1 Andrew Coventry reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34539759 24156116 16941474 17309651 25936995 32219518 1928092 33558080 10841810; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM#230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2073 TOMM7 Eleanor Williams commented on gene: TOMM7
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Green List (High Evidence).
Prepair 1000+ v1.521 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from Ciliary dyskinesia, primary, 15, 613808 (3) to Ciliary dyskinesia, primary, 15 MIM#613808
Prepair 1000+ v1.520 CCDC40 Zornitza Stark Publications for gene: CCDC40 were set to
Prepair 1000+ v1.519 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Prepair 1000+ v1.519 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Prepair 1000+ v1.519 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence, 208150 (3) to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326; Fetal akinesia deformation sequence 2 MIM#618388
Prepair 1000+ v1.518 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Prepair 1000+ v1.517 REEP6 Zornitza Stark Marked gene: REEP6 as ready
Prepair 1000+ v1.517 REEP6 Zornitza Stark Gene: reep6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.517 REEP6 Zornitza Stark Phenotypes for gene: REEP6 were changed from Retinitis pigmentosa 77, 617304 (3), Autosomal recessive to Retinitis pigmentosa 77 MIM#617304
Prepair 1000+ v1.516 REN Zornitza Stark Marked gene: REN as ready
Prepair 1000+ v1.516 REN Zornitza Stark Gene: ren has been classified as Green List (High Evidence).
Prepair 1000+ v1.516 REN Zornitza Stark Phenotypes for gene: REN were changed from Renal tubular dysgenesis, 267430 (3) to Renal tubular dysgenesis MIM#267430
Prepair 1000+ v1.515 RLIM Zornitza Stark Marked gene: RLIM as ready
Prepair 1000+ v1.515 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Prepair 1000+ v1.515 RLIM Zornitza Stark Phenotypes for gene: RLIM were changed from Mental retardation, X-linked 61, 300978 (3), X-linked recessive to Tonne-Kalscheuer syndrome MIM#300978
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.514 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive to Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.513 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 (3) to Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.512 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease, type 4C, 601596 (3) to Charcot-Marie-Tooth disease, type 4C, MIM#601596
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.511 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from Netherton syndrome, 256500 (3) to Netherton syndrome MIM#256500
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.510 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM#612073
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.509 TANGO2 Zornitza Stark Tag SV/CNV tag was added to gene: TANGO2.
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.509 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from Ciliary dyskinesia, primary, 2, 606763 (3) to Ciliary dyskinesia, primary, 2, MIM#606763
Prepair 1000+ v1.508 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.507 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425
Prepair 1000+ v1.506 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Prepair 1000+ v1.505 FANCF Zornitza Stark Marked gene: FANCF as ready
Prepair 1000+ v1.505 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Prepair 1000+ v1.505 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from Fanconi anemia, complementation group F, 603467 (3) to Fanconi anaemia, complementation group F, MIM#603467
Prepair 1000+ v1.504 FANCF Zornitza Stark Publications for gene: FANCF were set to
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.503 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from Neurodegeneration due to cerebral folate transport deficiency, 613068 (3) to Neurodegeneration due to cerebral folate transport deficiency, MIM#613068
Prepair 1000+ v1.502 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.501 GFPT1 Zornitza Stark Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 (3) to Myasthenia, congenital, 12, with tubular aggregates, MIM#610542
Prepair 1000+ v1.500 GFPT1 Zornitza Stark Publications for gene: GFPT1 were set to
Skeletal dysplasia v0.289 DDX41 Zornitza Stark Marked gene: DDX41 as ready
Skeletal dysplasia v0.289 DDX41 Zornitza Stark Gene: ddx41 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.499 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A, 276902 (3) to Usher syndrome, type 3A (MIM#276902)
Prepair 1000+ v1.498 CLRN1 Zornitza Stark Publications for gene: CLRN1 were set to
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Marked gene: COL27A1 as ready
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Gene: col27a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.497 COL27A1 Zornitza Stark Phenotypes for gene: COL27A1 were changed from Steel Syndrome to Steel Syndrome, MIM#615155
Prepair 1000+ v1.496 COL27A1 Zornitza Stark Publications for gene: COL27A1 were set to
Prepair 1000+ v1.495 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Prepair 1000+ v1.495 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.495 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Prepair 1000+ v1.494 DDC Zornitza Stark Marked gene: DDC as ready
Prepair 1000+ v1.494 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Prepair 1000+ v1.494 DDC Zornitza Stark Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 (3) to Aromatic L-amino acid decarboxylase deficiency 608643; Aromatic L-amino acid decarboxylase deficiency (MIM#608643)
Prepair 1000+ v1.493 DLD Zornitza Stark Marked gene: DLD as ready
Prepair 1000+ v1.493 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Prepair 1000+ v1.493 DLD Zornitza Stark Publications for gene: DLD were set to
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.492 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to
Prepair 1000+ v1.491 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Prepair 1000+ v1.491 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.491 DONSON Zornitza Stark Marked gene: DONSON as ready
Prepair 1000+ v1.491 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Prepair 1000+ v1.491 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive to Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604)
Prepair 1000+ v1.490 DONSON Zornitza Stark Publications for gene: DONSON were set to
Prepair 1000+ v1.489 COX15 Zornitza Stark Marked gene: COX15 as ready
Prepair 1000+ v1.489 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Prepair 1000+ v1.489 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) to Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119
Prepair 1000+ v1.488 COX15 Zornitza Stark Publications for gene: COX15 were set to
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Intellectual disability syndromic and non-syndromic v0.6620 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD
Intellectual disability syndromic and non-syndromic v0.6619 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6618 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Intellectual disability syndromic and non-syndromic v0.6618 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6618 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Intellectual disability syndromic and non-syndromic v0.6618 YAP1 Zornitza Stark Gene: yap1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6618 YAP1 Zornitza Stark Phenotypes for gene: YAP1 were changed from to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM #120433
Intellectual disability syndromic and non-syndromic v0.6617 YAP1 Zornitza Stark Publications for gene: YAP1 were set to
Intellectual disability syndromic and non-syndromic v0.6616 YAP1 Zornitza Stark Mode of inheritance for gene: YAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6615 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Intellectual disability syndromic and non-syndromic v0.6615 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6615 RSPRY1 Zornitza Stark Marked gene: RSPRY1 as ready
Intellectual disability syndromic and non-syndromic v0.6615 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6615 RAB1A Zornitza Stark Marked gene: RAB1A as ready
Intellectual disability syndromic and non-syndromic v0.6615 RAB1A Zornitza Stark Gene: rab1a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6615 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Intellectual disability syndromic and non-syndromic v0.6615 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6615 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Intellectual disability syndromic and non-syndromic v0.6615 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6615 AASS Zornitza Stark Marked gene: AASS as ready
Intellectual disability syndromic and non-syndromic v0.6615 AASS Zornitza Stark Gene: aass has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6615 SUOX Zornitza Stark Marked gene: SUOX as ready
Intellectual disability syndromic and non-syndromic v0.6615 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6615 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from to isolated sulfite oxidase deficiency MONDO:0010089
Intellectual disability syndromic and non-syndromic v0.6614 SUOX Zornitza Stark Publications for gene: SUOX were set to
Intellectual disability syndromic and non-syndromic v0.6613 SUOX Zornitza Stark Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6612 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Intellectual disability syndromic and non-syndromic v0.6612 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6612 SPTBN2 Zornitza Stark Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224
Intellectual disability syndromic and non-syndromic v0.6611 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to
Intellectual disability syndromic and non-syndromic v0.6610 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Intellectual disability syndromic and non-syndromic v0.6610 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6610 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500
Intellectual disability syndromic and non-syndromic v0.6609 SLC6A19 Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6608 SLC6A19 Zornitza Stark commented on gene: SLC6A19: Well established gene-disease association with several neurological manifestations, including DD.
Intellectual disability syndromic and non-syndromic v0.6608 SLC6A19 Zornitza Stark reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, MIM# 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTPS1 Kate Scarff reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24870241; Phenotypes: Immunodeficiency 24, MIM #615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 COX15 Kate Scarff reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15235026, 12474143, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6608 DHX9 Zornitza Stark Phenotypes for gene: DHX9 were changed from Intellectual developmental disorder, autosomal dominant 75, MIM# 620988 to Intellectual developmental disorder, autosomal dominant 75, MIM# 620988
Intellectual disability syndromic and non-syndromic v0.6607 DHX9 Zornitza Stark Phenotypes for gene: DHX9 were changed from Neurodevelopmental disorder, MONDO:0700092, DHX9-related to Intellectual developmental disorder, autosomal dominant 75, MIM# 620988
Intellectual disability syndromic and non-syndromic v0.6606 DHX9 Zornitza Stark edited their review of gene: DHX9: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 75, MIM# 620988
Mendeliome v1.2073 DHX9 Zornitza Stark Phenotypes for gene: DHX9 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; Charcot-Marie-Tooth disease, MONDO:0015626 to Intellectual developmental disorder, autosomal dominant 75, MIM# 620988; Charcot-Marie-Tooth disease, MONDO:0015626
Mendeliome v1.2072 DHX9 Zornitza Stark edited their review of gene: DHX9: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 75, MIM# 620988; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6606 ANKRD31 Zornitza Stark Marked gene: ANKRD31 as ready
Intellectual disability syndromic and non-syndromic v0.6606 ANKRD31 Zornitza Stark Gene: ankrd31 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6606 ANKRD31 Zornitza Stark Phenotypes for gene: ANKRD31 were changed from to Neurodevelopmental disorder, MONDO:0700092, ANKRD31-related
Intellectual disability syndromic and non-syndromic v0.6605 ANKRD31 Zornitza Stark Classified gene: ANKRD31 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.6605 ANKRD31 Zornitza Stark Gene: ankrd31 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6604 ANKRD31 Megan Ball gene: ANKRD31 was added
gene: ANKRD31 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD31 were set to 27541642
Review for gene: ANKRD31 was set to RED
Added comment: 1 individual with Rett-like phenotype. De novo missense. C.196A>T, p.Ile66Phe. Onset of features at 3 years, delayed ambulation, epilepsy, developmental regression, stereotypies, non-verbal. 17 years old at time of publication. A C.elegans model of ANKRD31 with a deletion showed significantly defective locomotion and asymmetric dynamics of axonal and dendritic microtubule defects.
Sources: Literature
Prepair 1000+ v1.486 DONSON Crystle Lee reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 31191207, 29760432; Phenotypes: Microcephaly-micromelia syndrome (MIM#251230), Microcephaly, short stature, and limb abnormalities (MIM#617604); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNMT3B Crystle Lee reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNAJC19 Crystle Lee reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 35611801, 27928778; Phenotypes: 3-methylglutaconic aciduria, type V (MIM#610198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DLD Crystle Lee reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39040027; Phenotypes: Dihydrolipoamide dehydrogenase deficiency (MIM#246900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DDC Crystle Lee reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643Aromatic L-amino acid decarboxylase deficiency (MIM#608643); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DARS2 Crystle Lee reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35820270; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6604 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Intellectual disability syndromic and non-syndromic v0.6604 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6604 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Intellectual disability syndromic and non-syndromic v0.6603 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Intellectual disability syndromic and non-syndromic v0.6602 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.6601 SLC35A2 Zornitza Stark Tag somatic tag was added to gene: SLC35A2.
Intellectual disability syndromic and non-syndromic v0.6601 SLC35A2 Zornitza Stark reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 33407896; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Classified gene: SLC33A1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.203 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.202 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC33A1 were set to 31194315
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Review for gene: SLC33A1 was set to GREEN
Added comment: Multiple families reported. Deafness is part of the phenotype.
Sources: Expert Review
Cataract v0.372 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Cataract v0.372 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Cataract v0.372 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Cataract v0.371 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Cataract v0.370 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.369 SLC33A1 Zornitza Stark reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.570 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Regression v0.570 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Regression v0.570 SLC33A1 Zornitza Stark Classified gene: SLC33A1 as Green List (high evidence)
Regression v0.570 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Regression v0.569 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC33A1 were set to 31194315
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Review for gene: SLC33A1 was set to GREEN
Added comment: Multiple families reported. Progressive disorder characterised by cerebral and cerebellar atrophy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Intellectual disability syndromic and non-syndromic v0.6601 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to 31194315
Intellectual disability syndromic and non-syndromic v0.6600 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Intellectual disability syndromic and non-syndromic v0.6599 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6598 SLC33A1 Zornitza Stark reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6598 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Intellectual disability syndromic and non-syndromic v0.6598 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6598 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1-deficiency syndrome, MONDO:0000188; Dystonia 9 601042; GLUT1 deficiency syndrome 1, infantile onset, severe 606777; GLUT1 deficiency syndrome 2, childhood onset 612126; Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Intellectual disability syndromic and non-syndromic v0.6597 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Intellectual disability syndromic and non-syndromic v0.6596 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6595 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32913944; Phenotypes: GLUT1-deficiency syndrome, MONDO:0000188, Dystonia 9 601042, GLUT1 deficiency syndrome 1, infantile onset, severe 606777, GLUT1 deficiency syndrome 2, childhood onset 612126, Stomatin-deficient cryohydrocytosis with neurologic defects 608885; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6595 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Intellectual disability syndromic and non-syndromic v0.6595 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6595 SLC25A22 Zornitza Stark Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304
Intellectual disability syndromic and non-syndromic v0.6594 SLC25A22 Zornitza Stark Publications for gene: SLC25A22 were set to
Intellectual disability syndromic and non-syndromic v0.6593 SLC25A22 Zornitza Stark Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6592 SLC25A22 Zornitza Stark reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.946 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.486 COL27A1 Crystle Lee changed review comment from: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature,
hip dislocation, radial head dislocation, and carpal coalition; to: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature, hip dislocation, radial head dislocation, and carpal coalition
Prepair 1000+ v1.486 COL27A1 Crystle Lee reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32360765, 33963180; Phenotypes: Steel syndrome (MIM#615155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CLRN1 Crystle Lee reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23304067, 35481838; Phenotypes: Usher syndrome, type 3A (MIM#276902); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.289 DDX41 Chirag Patel gene: DDX41 was added
gene: DDX41 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: DDX41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX41 were set to PMID: 39453476
Phenotypes for gene: DDX41 were set to Bone dysplasia, ichthyosis, and dysmorphism
Review for gene: DDX41 was set to RED
Added comment: 1 patient with acromesomelic dysplasia (short stature, premature closure of epiphyses of hands/feet), chronic ichthyotic-like skin changes, joint pain, facial dysmorphism, dental crowding, difficulty in swallowing, hyperinsulinism, and absent breast development.. WES identified compound heterozygous DDX41 variants (p.Met155Ile and p.Glu345Lys). Parents confirmed carriers of single variant.

DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases regulate all aspects of RNA metabolism. DDX41 acts as a sensor of viral DNA and activates the STING-TBK1-IRF3-type I IFN signaling pathway. Functional analyses of the patient-derived dermal fibroblasts revealed a reduced abundance of DDX41 and abrogated activation of the IFN genes through the STING-type I interferon pathway. Genome-wide transcriptome analyses in the patient's fibroblasts revealed significant gene dysregulation and changes in the RNA splicing events. The patient's fibroblasts also displayed upregulation of periostin mRNA expression. Using an RNA binding protein assay, they identified DDX41 as a novel regulator of periostin expression.
Sources: Literature
Fetal anomalies v1.289 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Fetal anomalies v1.288 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting disorders v0.258 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Clefting disorders v0.257 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v0.35 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Pituitary hormone deficiency v0.34 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6592 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Intellectual disability syndromic and non-syndromic v0.6591 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: None
Polydactyly v0.278 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Polydactyly v0.277 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: None
Mendeliome v1.2072 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Mendeliome v1.2071 ZRSR2 Zornitza Stark edited their review of gene: ZRSR2: Changed phenotypes: Orofaciodigital syndrome XXI, MIM# 301132
Holoprosencephaly and septo-optic dysplasia v1.17 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Holoprosencephaly and septo-optic dysplasia v1.16 ZRSR2 Zornitza Stark edited their review of gene: ZRSR2: Changed phenotypes: Orofaciodigital syndrome XXI, MIM# 301132
Anophthalmia_Microphthalmia_Coloboma v1.41 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Anophthalmia_Microphthalmia_Coloboma v1.40 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: None
Prepair 1000+ v1.486 GFPT1 Andrew Coventry reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273 30635494 2131027 23794683; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 FOLR1 Andrew Coventry reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866 30420205 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency MIM#613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 FANCF Andrew Coventry reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615118 31288759 20301575; Phenotypes: Fanconi anemia, complementation group F MIM#603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 EXTL3 Andrew Coventry reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690 28148688 28331220 38010729 35114981; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities MIM#617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNAAF3 Andrew Coventry reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996 32622824 31186518 33577779 39004944 35869935 39289782 38296613 32502479 33479112; Phenotypes: Ciliary dyskinesia, primary, 2 MIM#606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.944 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.942 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Mitochondrial disease v0.941 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.940 SLC25A12 Zornitza Stark changed review comment from: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.; to: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.

The SLC25A12 gene encodes aralar, a protein that functions in the transport of aspartate from mitochondria to cytosol in exchange for glutamate. Aralar also plays a role in the transfer of cytosolic reducing equivalents into mitochondria as a member of the malate-aspartate NADH shuttle.
Intellectual disability syndromic and non-syndromic v0.6591 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Intellectual disability syndromic and non-syndromic v0.6591 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6591 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Intellectual disability syndromic and non-syndromic v0.6590 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Intellectual disability syndromic and non-syndromic v0.6589 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6588 SLC25A12 Zornitza Stark reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 35008954, 32700846, 31766059, 31514314; Phenotypes: Developmental and epileptic encephalopathy 39, MIM# 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6588 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Intellectual disability syndromic and non-syndromic v0.6588 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.486 TANGO2 Lucy Spencer reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SUCLA2 Lucy Spencer reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SPINK5 Lucy Spencer reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM#256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SPG11 Lucy Spencer changed review comment from: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).; to: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

ClinGen lumps all 3 conditions under spastic paraplegia 11

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).
Prepair 1000+ v1.486 SPG11 Lucy Spencer reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive MIM#604360, Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SH3TC2 Lucy Spencer reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SEMA4A Lucy Spencer reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SCYL1 Lucy Spencer reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 MIM#616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RTN4IP1 Lucy Spencer reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RLIM Lucy Spencer reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tonne-Kalscheuer syndrome MIM#300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.486 REN Lucy Spencer reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 REEP6 Lucy Spencer reviewed gene: REEP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 77 MIM#617304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RAPSN Lucy Spencer reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17594401; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326, Fetal akinesia deformation sequence 2 MIM#618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCDC40 Michelle Torres reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15 MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.149 CHD1 Zornitza Stark Marked gene: CHD1 as ready
Macrocephaly_Megalencephaly v0.149 CHD1 Zornitza Stark Gene: chd1 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.149 CHD1 Zornitza Stark Classified gene: CHD1 as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.149 CHD1 Zornitza Stark Gene: chd1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.486 CCDC39 Michelle Torres reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972; Phenotypes: Ciliary dyskinesia, primary, 14 MIM#613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCBE1 Michelle Torres reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 1 MIM#235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CASR Michelle Torres reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22620673, 26646938; Phenotypes: Hyperparathyroidism, neonatal MIM#239200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 BOLA3 Michelle Torres reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 BBS9 Michelle Torres reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33771153, 31283077; Phenotypes: Bardet-Biedl syndrome 9 MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 ANKS6 Michelle Torres reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31678577, 23793029, 31635528, 24610927, 37525964; Phenotypes: Nephronophthisis 16 MIM#615382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 AHI1 Michelle Torres reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155189, 20301500; Phenotypes: Joubert syndrome 3 MIM#608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.288 RREB1 Krithika Murali Marked gene: RREB1 as ready
Fetal anomalies v1.288 RREB1 Krithika Murali Gene: rreb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.288 RREB1 Krithika Murali Publications for gene: RREB1 were set to 32938917; 38332451
Fetal anomalies v1.287 RREB1 Krithika Murali Publications for gene: RREB1 were set to PMID: 32938917; 38332451
Fetal anomalies v1.286 RREB1 Krithika Murali Classified gene: RREB1 as Amber List (moderate evidence)
Fetal anomalies v1.286 RREB1 Krithika Murali Gene: rreb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.285 RREB1 Krithika Murali gene: RREB1 was added
gene: RREB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RREB1 were set to PMID: 32938917; 38332451
Phenotypes for gene: RREB1 were set to Rasopathy, MONDO:0021060, RREB1-related
Review for gene: RREB1 was set to AMBER
Added comment: PMID 38332451: de novo LoF variant in an individual with Noonan syndrome-like features. No prenatal phenotype reported in this individual, however, prenatal phenotype has been reported with other RASopathies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6588 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Sialic acid storage disorder, infantile, MIM# 269920
Intellectual disability syndromic and non-syndromic v0.6587 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Intellectual disability syndromic and non-syndromic v0.6586 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6585 SLC17A5 Zornitza Stark edited their review of gene: SLC17A5: Changed publications: 10581036, 10947946
Intellectual disability syndromic and non-syndromic v0.6585 SLC17A5 Zornitza Stark commented on gene: SLC17A5: Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form, including DD/IDD or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease. p.Arg39Cys is a founder Finnish variant. Multiple families reported.
Intellectual disability syndromic and non-syndromic v0.6585 SLC17A5 Zornitza Stark reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6585 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Intellectual disability syndromic and non-syndromic v0.6585 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6585 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from to Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000
Intellectual disability syndromic and non-syndromic v0.6584 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Callosome v0.535 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Callosome v0.535 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.136 ZNF808 Zornitza Stark Phenotypes for gene: ZNF808 were changed from non-syndromic neonatal diabetes; MONDO:0016391 to Pancreatic agenesis 3, MIM# 620991
Monogenic Diabetes v0.135 ZNF808 Zornitza Stark reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 3, MIM# 620991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2071 ZNF808 Zornitza Stark Phenotypes for gene: ZNF808 were changed from non-syndromic neonatal diabetes; MONDO:0016391 to Pancreatic agenesis 3, MIM# 620991
Mendeliome v1.2070 ZNF808 Zornitza Stark reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 3, MIM# 620991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.535 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from to Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000
Callosome v0.534 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Callosome v0.533 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6583 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.532 SLC12A6 Zornitza Stark reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6582 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6581 SLC12A6 Zornitza Stark reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.52 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.486 DMD Andrew Coventry Deleted their review
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298 16770791; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200, Cardiomyopathy, dilated, 3B MIM#302045; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.486 DDR2 Andrew Coventry reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212 20223752 8434618 20223752 8465857; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type MIM#271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTSA Andrew Coventry reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968752 18391110 7759227 6812049 28603679 8838767 19466716 16674934 23915561 26036949 24769197 28555253 15110321 27243974; Phenotypes: Galactosialidosis MIM#256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTNS Andrew Coventry reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26523297 20301574 25165189 9537412 10625078 30554218 12370309; Phenotypes: Cystinosis, nephropathic MIM#219800, Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, atypical nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Prepair 1000+ v1.486 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Prepair 1000+ v1.486 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from Joubert syndrome 1, 213300 (3) to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Prepair 1000+ v1.485 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, 612780 (3) to SESAME syndrome, MIM# 612780; EAST syndrome, MONDO:0013005
Prepair 1000+ v1.483 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600 (3) to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400
Prepair 1000+ v1.481 RECQL4 Zornitza Stark Publications for gene: RECQL4 were set to
Prepair 1000+ v1.480 KPTN Zornitza Stark Marked gene: KPTN as ready
Prepair 1000+ v1.480 KPTN Zornitza Stark Gene: kptn has been classified as Green List (High Evidence).
Prepair 1000+ v1.480 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41, 615637 (3) to Intellectual developmental disorder, autosomal recessive 41 (MIM#615637)
Prepair 1000+ v1.479 KPTN Zornitza Stark Publications for gene: KPTN were set to
Prepair 1000+ v1.478 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Prepair 1000+ v1.478 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.478 KRT10 Zornitza Stark Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive to Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707; MONDO:0700245
Prepair 1000+ v1.477 KRT10 Zornitza Stark Publications for gene: KRT10 were set to
Prepair 1000+ v1.476 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Prepair 1000+ v1.476 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.476 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976
Prepair 1000+ v1.475 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Marked gene: AJAP1 as ready
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.67 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Genetic Epilepsy v1.67 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.66 AJAP1 Zornitza Stark gene: AJAP1 was added
gene: AJAP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to 38985877
Phenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092, AJAP1-related
Review for gene: AJAP1 was set to GREEN
Added comment: PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6581 AJAP1 Zornitza Stark Marked gene: AJAP1 as ready
Intellectual disability syndromic and non-syndromic v0.6581 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6581 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6581 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6580 AJAP1 Zornitza Stark gene: AJAP1 was added
gene: AJAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to 38985877
Phenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092, AJAP1-related
Review for gene: AJAP1 was set to GREEN
Added comment: PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available.
Sources: Literature
Mendeliome v1.2070 AJAP1 Zornitza Stark Marked gene: AJAP1 as ready
Mendeliome v1.2070 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Mendeliome v1.2070 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Mendeliome v1.2070 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.474 ADA Zornitza Stark Marked gene: ADA as ready
Prepair 1000+ v1.474 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Prepair 1000+ v1.474 ADA Zornitza Stark Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial, 102700 (3) to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700
Prepair 1000+ v1.473 ADA Zornitza Stark Publications for gene: ADA were set to
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to
Cerebral Palsy v1.389 TRIO Zornitza Stark Marked gene: TRIO as ready
Cerebral Palsy v1.389 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Cerebral Palsy v1.389 TRIO Zornitza Stark Classified gene: TRIO as Red List (low evidence)
Cerebral Palsy v1.389 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Cerebral Palsy v1.388 TRIO Zornitza Stark Classified gene: TRIO as Red List (low evidence)
Cerebral Palsy v1.388 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Cerebral Palsy v1.387 TBCK Zornitza Stark Marked gene: TBCK as ready
Cerebral Palsy v1.387 TBCK Zornitza Stark Gene: tbck has been classified as Red List (Low Evidence).
Cerebral Palsy v1.387 TBCK Zornitza Stark Classified gene: TBCK as Red List (low evidence)
Cerebral Palsy v1.387 TBCK Zornitza Stark Gene: tbck has been classified as Red List (Low Evidence).
Cerebral Palsy v1.386 TBCD Zornitza Stark Marked gene: TBCD as ready
Cerebral Palsy v1.386 TBCD Zornitza Stark Gene: tbcd has been classified as Red List (Low Evidence).
Cerebral Palsy v1.386 TBCD Zornitza Stark Classified gene: TBCD as Red List (low evidence)
Cerebral Palsy v1.386 TBCD Zornitza Stark Gene: tbcd has been classified as Red List (Low Evidence).
Cerebral Palsy v1.385 SMG8 Zornitza Stark Marked gene: SMG8 as ready
Cerebral Palsy v1.385 SMG8 Zornitza Stark Gene: smg8 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.385 SMG8 Zornitza Stark Classified gene: SMG8 as Red List (low evidence)
Cerebral Palsy v1.385 SMG8 Zornitza Stark Gene: smg8 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.384 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Cerebral Palsy v1.384 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.384 RTN4IP1 Zornitza Stark Classified gene: RTN4IP1 as Red List (low evidence)
Cerebral Palsy v1.384 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.383 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Cerebral Palsy v1.383 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.383 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Amber List (moderate evidence)
Cerebral Palsy v1.383 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.382 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Cerebral Palsy v1.382 PUM1 Zornitza Stark Gene: pum1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.382 PUM1 Zornitza Stark Classified gene: PUM1 as Red List (low evidence)
Cerebral Palsy v1.382 PUM1 Zornitza Stark Gene: pum1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.381 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Cerebral Palsy v1.381 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.381 PGAP2 Zornitza Stark Classified gene: PGAP2 as Red List (low evidence)
Cerebral Palsy v1.381 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.380 KIF5C Zornitza Stark Marked gene: KIF5C as ready
Cerebral Palsy v1.380 KIF5C Zornitza Stark Gene: kif5c has been classified as Red List (Low Evidence).
Cerebral Palsy v1.380 KIF5C Zornitza Stark Classified gene: KIF5C as Red List (low evidence)
Cerebral Palsy v1.380 KIF5C Zornitza Stark Gene: kif5c has been classified as Red List (Low Evidence).
Cerebral Palsy v1.379 KCNK9 Zornitza Stark Marked gene: KCNK9 as ready
Cerebral Palsy v1.379 KCNK9 Zornitza Stark Gene: kcnk9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.379 KCNK9 Zornitza Stark Classified gene: KCNK9 as Red List (low evidence)
Cerebral Palsy v1.379 KCNK9 Zornitza Stark Gene: kcnk9 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.378 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Cerebral Palsy v1.378 IREB2 Zornitza Stark Gene: ireb2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.378 IREB2 Zornitza Stark Classified gene: IREB2 as Red List (low evidence)
Cerebral Palsy v1.378 IREB2 Zornitza Stark Gene: ireb2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.377 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Cerebral Palsy v1.377 EBF3 Zornitza Stark Gene: ebf3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.377 EBF3 Zornitza Stark Classified gene: EBF3 as Red List (low evidence)
Cerebral Palsy v1.377 EBF3 Zornitza Stark Gene: ebf3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.376 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Cerebral Palsy v1.376 COQ4 Zornitza Stark Gene: coq4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.376 COQ4 Zornitza Stark Classified gene: COQ4 as Red List (low evidence)
Cerebral Palsy v1.376 COQ4 Zornitza Stark Gene: coq4 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.375 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Cerebral Palsy v1.375 CLN6 Zornitza Stark Gene: cln6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.375 CLN6 Zornitza Stark Classified gene: CLN6 as Red List (low evidence)
Cerebral Palsy v1.375 CLN6 Zornitza Stark Gene: cln6 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.374 BRAF Zornitza Stark Classified gene: BRAF as Amber List (moderate evidence)
Cerebral Palsy v1.374 BRAF Zornitza Stark Gene: braf has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.373 BRAF Zornitza Stark Marked gene: BRAF as ready
Cerebral Palsy v1.373 BRAF Zornitza Stark Gene: braf has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.373 BRAF Zornitza Stark Classified gene: BRAF as Amber List (moderate evidence)
Cerebral Palsy v1.373 BRAF Zornitza Stark Gene: braf has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.372 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Cerebral Palsy v1.372 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.372 ALDH7A1 Zornitza Stark Classified gene: ALDH7A1 as Red List (low evidence)
Cerebral Palsy v1.372 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.371 PIK3CA Zornitza Stark Classified gene: PIK3CA as Red List (low evidence)
Cerebral Palsy v1.371 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Cerebral Palsy v1.371 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Cerebral Palsy v1.371 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Cerebral Palsy v1.371 PIK3CA Zornitza Stark Classified gene: PIK3CA as Red List (low evidence)
Cerebral Palsy v1.371 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Prepair 1000+ v1.471 ADAMTSL2 Michelle Torres reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301776, 38300707; Phenotypes: Geleophysic dysplasia 1 MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.471 ADA Michelle Torres reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301656, 8673127; Phenotypes: Severe combined immunodeficiency due to ADA deficiency MIM#102700 AR, Smo, Adenosine deaminase deficiency, partial MIM#102700 AR,SMo.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.471 LAT Zornitza Stark Marked gene: LAT as ready
Prepair 1000+ v1.471 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Prepair 1000+ v1.471 LAT Zornitza Stark Publications for gene: LAT were set to 27522155; 27242165
Prepair 1000+ v1.470 LAT Zornitza Stark reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 52, MIM# 617514, severe combined immunodeficiency due to LAT deficiency MONDO:0044721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6579 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Intellectual disability syndromic and non-syndromic v0.6579 KIF5A Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6579 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant, MIM# 604187; inherited neurodegenerative disorder MONDO:0024237 to Spastic paraplegia 10, autosomal dominant, MIM# 604187; inherited neurodegenerative disorder MONDO:0024237
Mendeliome v1.2069 AJAP1 Achchuthan Shanmugasundram gene: AJAP1 was added
gene: AJAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to 38985877
Phenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: AJAP1 was set to GREEN
Added comment: PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6578 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from to Spastic paraplegia 10, autosomal dominant, MIM# 604187; inherited neurodegenerative disorder MONDO:0024237
Intellectual disability syndromic and non-syndromic v0.6577 KIF5A Zornitza Stark Publications for gene: KIF5A were set to 18853458
Intellectual disability syndromic and non-syndromic v0.6576 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Intellectual disability syndromic and non-syndromic v0.6575 KIF5A Zornitza Stark Mode of inheritance for gene: KIF5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6574 KIF5A Zornitza Stark Classified gene: KIF5A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6574 KIF5A Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6573 KIF5A Zornitza Stark Classified gene: KIF5A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6573 KIF5A Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6572 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Intellectual disability syndromic and non-syndromic v0.6572 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6572 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from acrocallosal syndrome MONDO:0008708; KIF7-related ciliopathy MONDO:0800463; Joubert syndrome 12 MIM#200990 to acrocallosal syndrome MONDO:0008708; KIF7-related ciliopathy MONDO:0800463; Joubert syndrome 12 MIM#200990
Intellectual disability syndromic and non-syndromic v0.6571 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to acrocallosal syndrome MONDO:0008708; KIF7-related ciliopathy MONDO:0800463; Joubert syndrome 12 MIM#200990
Intellectual disability syndromic and non-syndromic v0.6570 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Intellectual disability syndromic and non-syndromic v0.6569 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6569 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6568 KLHL7 Zornitza Stark Marked gene: KLHL7 as ready
Intellectual disability syndromic and non-syndromic v0.6568 KLHL7 Zornitza Stark Gene: klhl7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6568 KLHL7 Zornitza Stark Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome MONDO:0014890; acrocallosal syndrome MONDO:0008708
Intellectual disability syndromic and non-syndromic v0.6567 KLHL7 Zornitza Stark Publications for gene: KLHL7 were set to 27392078; 30142437; 29074562
Intellectual disability syndromic and non-syndromic v0.6566 KLHL7 Zornitza Stark Publications for gene: KLHL7 were set to
Intellectual disability syndromic and non-syndromic v0.6565 KLHL7 Zornitza Stark Mode of inheritance for gene: KLHL7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6564 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Intellectual disability syndromic and non-syndromic v0.6564 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6564 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, MIM#236792
Intellectual disability syndromic and non-syndromic v0.6563 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to
Intellectual disability syndromic and non-syndromic v0.6562 L2HGDH Zornitza Stark Mode of inheritance for gene: L2HGDH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6561 L2HGDH Zornitza Stark Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6560 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Intellectual disability syndromic and non-syndromic v0.6560 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6560 LAMA1 Zornitza Stark Phenotypes for gene: LAMA1 were changed from to ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Intellectual disability syndromic and non-syndromic v0.6559 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to
Intellectual disability syndromic and non-syndromic v0.6558 LAMA1 Zornitza Stark Mode of inheritance for gene: LAMA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6557 LAMA1 Zornitza Stark Mode of inheritance for gene: LAMA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6556 LAMA1 Zornitza Stark Mode of inheritance for gene: LAMA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6555 LAMA1 Zornitza Stark Mode of inheritance for gene: LAMA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6554 ISPD Zornitza Stark Marked gene: ISPD as ready
Intellectual disability syndromic and non-syndromic v0.6554 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6554 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Intellectual disability syndromic and non-syndromic v0.6553 ISPD Zornitza Stark Publications for gene: ISPD were set to 23288328
Intellectual disability syndromic and non-syndromic v0.6552 ISPD Zornitza Stark Publications for gene: ISPD were set to
Intellectual disability syndromic and non-syndromic v0.6551 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6550 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6549 ISPD Zornitza Stark Tag new gene name tag was added to gene: ISPD.
Intellectual disability syndromic and non-syndromic v0.6549 ISPD Sangavi Sivagnanasundram reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23288328; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6549 LAMA1 Sangavi Sivagnanasundram reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24013853; Phenotypes: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6549 L2HGDH Sangavi Sivagnanasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113859; Phenotypes: Mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6549 KLHL7 Sangavi Sivagnanasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392078, 30142437, 29074562; Phenotypes: PERCHING syndrome MONDO:0014890, acrocallosal syndrome MONDO:0008708; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6549 KIF7 Sangavi Sivagnanasundram reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301500; Phenotypes: acrocallosal syndrome MONDO:0008708, KIF7-related ciliopathy MONDO:0800463, Joubert syndrome 12 MIM#200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6549 KIF5A Sangavi Sivagnanasundram reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 18853458; Phenotypes: Spastic paraplegia 10, autosomal dominant, MIM# 604187, inherited neurodegenerative disorder MONDO:0024237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.470 LAT Marta Cifuentes Ochoa reviewed gene: LAT: Rating: ; Mode of pathogenicity: None; Publications: 27353087, 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514, severe combined immunodeficiency due to LAT deficiency MONDO:0044721; Mode of inheritance: None
Prepair 1000+ v1.470 KRT14 Marta Cifuentes Ochoa reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 29024068; Phenotypes: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001, MONDO:0010976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KRT10 Marta Cifuentes Ochoa reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16505000; Phenotypes: Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707, MONDO:0700245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KPTN Marta Cifuentes Ochoa reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239382, 32358097, 32808430; Phenotypes: Intellectual developmental disorder, autosomal recessive 41 (MIM#615637); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 RECQL4 Shakira Heerah changed review comment from: Rothmund-Thomson Syndrome, Type 2
- Osteosarcoma in 23 patients
RAPADILINO Syndrome
- 10 finnish families
â—‹ Short stature
â—‹ Radial ray defects
â—‹ Infantile diarrhoea
- No significant cancer risk

Baller-Gerold Syndrome
- Radial aplasia/hypoplasia
- Craniosynostosis

Clinical overlap between all three phenotypes
Most cases in infancy and childhood
Severe phenotype: neonatal death, respiratory failure
Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607); to: Rothmund-Thomson Syndrome, Type 2
- Osteosarcoma in 23 patients

RAPADILINO Syndrome
- 10 finnish families
â—‹ Short stature
â—‹ Radial ray defects
â—‹ Infantile diarrhoea
- No significant cancer risk

Baller-Gerold Syndrome
- Radial aplasia/hypoplasia
- Craniosynostosis

Clinical overlap between all three phenotypes
Most cases in infancy and childhood
Severe phenotype: neonatal death, respiratory failure
Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607)
Prepair 1000+ v1.470 RECQL4 Shakira Heerah reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39315607, 39324487, 12952869, 15964893, 10319867, 12734318; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KCNJ10 Marta Cifuentes Ochoa reviewed gene: KCNJ10: Rating: ; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414, 38979912; Phenotypes: SESAME syndrome, MIM# 612780, EAST syndrome, MONDO:0013005, Enlarged vestibular aqueduct, digenic, MIM#600791, autosomal recessive nonsyndromic hearing loss 4, MONDO:0010933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 INPP5E Marta Cifuentes Ochoa reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215, 34211432; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 HYAL1 Marta Cifuentes Ochoa reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 1033958, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.51 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Congenital Disorders of Glycosylation v1.50 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHSRX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark edited their review of gene: DHRSX: Changed phenotypes: congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Fetal anomalies v1.284 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Fetal anomalies v1.284 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Fetal anomalies v1.284 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Fetal anomalies v1.284 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Fetal anomalies v1.283 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

In PAR.

Contractures and brain anomalies may be detectable antenatally.
Sources: Literature
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Deafness_IsolatedAndComplex v1.201 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.200 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Gene in PAR.
Sources: Literature
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Genetic Epilepsy v1.64 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Gene in PAR.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6549 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Intellectual disability syndromic and non-syndromic v0.6549 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6549 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6549 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6548 DHRSX Zornitza Stark edited their review of gene: DHRSX: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.6548 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Gene located in PAR.
Sources: Literature
Mendeliome v1.2069 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Mendeliome v1.2069 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.48 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHSRX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Note gene is in PAR.
Sources: Literature
Mendeliome v1.2069 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Mendeliome v1.2069 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Callosome v0.532 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Callosome v0.532 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Callosome v0.532 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Callosome v0.531 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Callosome v0.531 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6547 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Intellectual disability syndromic and non-syndromic v0.6547 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6547 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from to aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795; spinocerebellar ataxia type 29 MONDO:0007298
Intellectual disability syndromic and non-syndromic v0.6546 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to 27108797; 27108798; 15623688; 22986007; 28488678
Intellectual disability syndromic and non-syndromic v0.6545 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Intellectual disability syndromic and non-syndromic v0.6544 ITPR1 Zornitza Stark Mode of inheritance for gene: ITPR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6543 IVD Zornitza Stark Marked gene: IVD as ready
Intellectual disability syndromic and non-syndromic v0.6543 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6543 IVD Zornitza Stark Phenotypes for gene: IVD were changed from to isovaleric acidaemia MONDO:0009475
Intellectual disability syndromic and non-syndromic v0.6542 IVD Zornitza Stark Publications for gene: IVD were set to
Intellectual disability syndromic and non-syndromic v0.6541 IVD Zornitza Stark Mode of inheritance for gene: IVD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6540 KCNT1 Zornitza Stark Marked gene: KCNT1 as ready
Intellectual disability syndromic and non-syndromic v0.6540 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6540 KCNT1 Zornitza Stark Phenotypes for gene: KCNT1 were changed from to Developmental and epileptic encephalopathy MIM#614959; childhood-onset epilepsy syndrome MONDO:0020072
Intellectual disability syndromic and non-syndromic v0.6539 KCNT1 Zornitza Stark Publications for gene: KCNT1 were set to
Intellectual disability syndromic and non-syndromic v0.6538 KCNT1 Zornitza Stark Mode of inheritance for gene: KCNT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6537 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Intellectual disability syndromic and non-syndromic v0.6537 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6537 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); progressive myoclonus epilepsy MONDO:0020074 to progressive myoclonus epilepsy MONDO:0020074; Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Intellectual disability syndromic and non-syndromic v0.6536 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); progressive myoclonus epilepsy MONDO:0020074
Intellectual disability syndromic and non-syndromic v0.6535 KCTD7 Zornitza Stark Publications for gene: KCTD7 were set to
Intellectual disability syndromic and non-syndromic v0.6534 KCTD7 Zornitza Stark Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6533 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Intellectual disability syndromic and non-syndromic v0.6533 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6533 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2 MONDO:0010465
Intellectual disability syndromic and non-syndromic v0.6532 KDM6A Zornitza Stark Publications for gene: KDM6A were set to
Intellectual disability syndromic and non-syndromic v0.6531 KDM6A Zornitza Stark Mode of inheritance for gene: KDM6A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.6530 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Intellectual disability syndromic and non-syndromic v0.6530 KIAA0586 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name KATNIP
Intellectual disability syndromic and non-syndromic v0.6530 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6530 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Intellectual disability syndromic and non-syndromic v0.6530 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6530 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Intellectual disability syndromic and non-syndromic v0.6530 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Joubert syndrome 23 MIM#616490 to Joubert syndrome 23 MIM#616490
Intellectual disability syndromic and non-syndromic v0.6529 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23 MIM#616490
Intellectual disability syndromic and non-syndromic v0.6529 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6528 KIAA0586 Zornitza Stark Tag new gene name tag was added to gene: KIAA0586.
Cerebral Palsy v1.370 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Cerebral Palsy v1.370 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.370 KIAA1109 Zornitza Stark Classified gene: KIAA1109 as Red List (low evidence)
Cerebral Palsy v1.370 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6528 KIAA0586 Sangavi Sivagnanasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 26096313; Phenotypes: Joubert syndrome 23 MIM#616490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6528 KDM6A Sangavi Sivagnanasundram reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33674768; Phenotypes: Kabuki syndrome 2 MONDO:0010465; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6528 KCTD7 Sangavi Sivagnanasundram reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30295347, 31197948; Phenotypes: progressive myoclonus epilepsy MONDO:0020074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.568 NAXE Zornitza Stark Marked gene: NAXE as ready
Regression v0.568 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Regression v0.568 NAXE Zornitza Stark Classified gene: NAXE as Green List (high evidence)
Regression v0.568 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Regression v0.567 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Regression. Sources: Expert Review
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27122014; 27616477; 31758406
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Review for gene: NAXE was set to GREEN
Added comment: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.6528 KCNT1 Sangavi Sivagnanasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23086397, 24029078; Phenotypes: childhood-onset epilepsy syndrome MONDO:0020072; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6528 IVD Sangavi Sivagnanasundram reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 26018748; Phenotypes: isovaleric acidemia MONDO:0009475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6528 ITPR1 Sangavi Sivagnanasundram reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 27108798, 15623688, 22986007, 28488678; Phenotypes: aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795, spinocerebellar ataxia type 29 MONDO:0007298; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6528 MSL2 Zornitza Stark Phenotypes for gene: MSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, MSL2-related to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985
Intellectual disability syndromic and non-syndromic v0.6527 MSL2 Zornitza Stark edited their review of gene: MSL2: Changed phenotypes: Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985
Mendeliome v1.2068 MSL2 Zornitza Stark Phenotypes for gene: MSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, MSL2-related to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985
Mendeliome v1.2067 MSL2 Zornitza Stark reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.80 WFDC2 Zornitza Stark Phenotypes for gene: WFDC2 were changed from bronchiectasis, MONDO:0004822, WFDC2-related to Bronchiectasis and nasal polyposis, MIM# 620984
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark edited their review of gene: WFDC2: Changed phenotypes: Bronchiectasis and nasal polyposis, MIM# 620984
Mendeliome v1.2067 WFDC2 Zornitza Stark Phenotypes for gene: WFDC2 were changed from bronchiectasis, MONDO:0004822, WFDC2-related to Bronchiectasis and nasal polyposis, MIM# 620984
Mendeliome v1.2066 WFDC2 Zornitza Stark edited their review of gene: WFDC2: Changed phenotypes: Bronchiectasis and nasal polyposis, MIM# 620984
Leukodystrophy - paediatric v0.315 BORCS8 Zornitza Stark Phenotypes for gene: BORCS8 were changed from Neurodevelopmental disorder (MONDO#0700092), BORCS8-related to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Leukodystrophy - paediatric v0.314 BORCS8 Zornitza Stark reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6527 BORCS8 Zornitza Stark Phenotypes for gene: BORCS8 were changed from Neurodevelopmental disorder (MONDO#0700092), BORCS8-related to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Intellectual disability syndromic and non-syndromic v0.6526 BORCS8 Zornitza Stark reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.566 BORCS8 Zornitza Stark Phenotypes for gene: BORCS8 were changed from Neurodevelopmental disorder (MONDO#0700092), BORCS8-related to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Regression v0.565 BORCS8 Zornitza Stark reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.43 BORCS8 Zornitza Stark Phenotypes for gene: BORCS8 were changed from Neurodevelopmental disorder (MONDO#0700092), BORCS8-related to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Optic Atrophy v1.42 BORCS8 Zornitza Stark reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2066 BORCS8 Zornitza Stark Phenotypes for gene: BORCS8 were changed from Neurodevelopmental disorder (MONDO#0700092), BORCS8-related to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Mendeliome v1.2065 BORCS8 Zornitza Stark reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.76 COPG1 Zornitza Stark Phenotypes for gene: COPG1 were changed from Combined immunodeficiency MONDO:0015131, COPG1-related to Immunodeficiency 128, MIM# 620983
Combined Immunodeficiency v1.75 COPG1 Zornitza Stark edited their review of gene: COPG1: Changed phenotypes: Immunodeficiency 128, MIM# 620983
Mendeliome v1.2065 COPG1 Zornitza Stark Phenotypes for gene: COPG1 were changed from Combined immunodeficiency MONDO:0015131, COPG1-related to Immunodeficiency 128, MIM# 620983
Mendeliome v1.2064 COPG1 Zornitza Stark edited their review of gene: COPG1: Changed phenotypes: Immunodeficiency 128, MIM# 620983
Prepair 1000+ v1.470 WDR60 Lilian Downie Marked gene: WDR60 as ready
Prepair 1000+ v1.470 WDR60 Lilian Downie Gene: wdr60 has been classified as Green List (High Evidence).
Prepair 1000+ v1.470 WDR60 Lilian Downie Publications for gene: WDR60 were set to
Prepair 1000+ v1.469 YARS2 Lilian Downie Marked gene: YARS2 as ready
Prepair 1000+ v1.469 YARS2 Lilian Downie Gene: yars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.469 YARS2 Lilian Downie Publications for gene: YARS2 were set to
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Marked gene: ZFYVE26 as ready
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Gene: zfyve26 has been classified as Green List (High Evidence).
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Publications for gene: ZFYVE26 were set to
Prepair 1000+ v1.467 AGBL5 Lilian Downie Marked gene: AGBL5 as ready
Prepair 1000+ v1.467 AGBL5 Lilian Downie Gene: agbl5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.467 AGBL5 Lilian Downie Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa 75, 617023 (3), Autosomal recessive to Retinitis pigmentosa 75, 617023
Prepair 1000+ v1.466 AGBL5 Lilian Downie Publications for gene: AGBL5 were set to
Prepair 1000+ v1.465 AGT Lilian Downie Marked gene: AGT as ready
Prepair 1000+ v1.465 AGT Lilian Downie Gene: agt has been classified as Green List (High Evidence).
Prepair 1000+ v1.465 AGT Lilian Downie Publications for gene: AGT were set to
Prepair 1000+ v1.464 AIMP1 Lilian Downie Marked gene: AIMP1 as ready
Prepair 1000+ v1.464 AIMP1 Lilian Downie Gene: aimp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.464 AIMP1 Lilian Downie Publications for gene: AIMP1 were set to
Prepair 1000+ v1.463 ASL Lilian Downie Marked gene: ASL as ready
Prepair 1000+ v1.463 ASL Lilian Downie Gene: asl has been classified as Green List (High Evidence).
Prepair 1000+ v1.463 ASL Lilian Downie Publications for gene: ASL were set to
Prepair 1000+ v1.462 ATCAY Lilian Downie Marked gene: ATCAY as ready
Prepair 1000+ v1.462 ATCAY Lilian Downie Gene: atcay has been classified as Green List (High Evidence).
Prepair 1000+ v1.462 ATCAY Lilian Downie Publications for gene: ATCAY were set to
Prepair 1000+ v1.461 CDC45 Lilian Downie Marked gene: CDC45 as ready
Prepair 1000+ v1.461 CDC45 Lilian Downie Gene: cdc45 has been classified as Green List (High Evidence).
Prepair 1000+ v1.461 CDC45 Lilian Downie Phenotypes for gene: CDC45 were changed from Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive to Meier-Gorlin syndrome 7, 617063
Prepair 1000+ v1.460 CDC45 Lilian Downie Publications for gene: CDC45 were set to
Prepair 1000+ v1.459 CHAT Lilian Downie Marked gene: CHAT as ready
Prepair 1000+ v1.459 CHAT Lilian Downie Gene: chat has been classified as Green List (High Evidence).
Prepair 1000+ v1.459 CHAT Lilian Downie Publications for gene: CHAT were set to
Prepair 1000+ v1.458 CIT Lilian Downie Marked gene: CIT as ready
Prepair 1000+ v1.458 CIT Lilian Downie Gene: cit has been classified as Green List (High Evidence).
Prepair 1000+ v1.458 CIT Lilian Downie Publications for gene: CIT were set to
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Marked gene: CNTNAP2 as ready
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Gene: cntnap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, 610042 (3) to Pitt-Hopkins like syndrome 1 MIM#610042
Prepair 1000+ v1.456 CNTNAP2 Lilian Downie Publications for gene: CNTNAP2 were set to
Prepair 1000+ v1.455 COG5 Lilian Downie Marked gene: COG5 as ready
Prepair 1000+ v1.455 COG5 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.455 COG5 Lilian Downie Gene: cog5 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.455 COG5 Lilian Downie Tag for review tag was added to gene: COG5.
Prepair 1000+ v1.455 CABP4 Lilian Downie Marked gene: CABP4 as ready
Prepair 1000+ v1.455 CABP4 Lilian Downie Gene: cabp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.455 CABP4 Lilian Downie Publications for gene: CABP4 were set to 16960802; 19074807; 20157620
Prepair 1000+ v1.455 CABP4 Lilian Downie Publications for gene: CABP4 were set to
Prepair 1000+ v1.454 CAPN3 Lilian Downie Marked gene: CAPN3 as ready
Prepair 1000+ v1.454 CAPN3 Lilian Downie Gene: capn3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.454 CAPN3 Lilian Downie Publications for gene: CAPN3 were set to
Prepair 1000+ v1.453 CLPP Lilian Downie Marked gene: CLPP as ready
Prepair 1000+ v1.453 CLPP Lilian Downie Gene: clpp has been classified as Green List (High Evidence).
Prepair 1000+ v1.453 CLPP Lilian Downie Publications for gene: CLPP were set to
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Marked gene: DNAAF5 as ready
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Gene: dnaaf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Publications for gene: DNAAF5 were set to
Prepair 1000+ v1.451 COL11A1 Lilian Downie Marked gene: COL11A1 as ready
Prepair 1000+ v1.451 COL11A1 Lilian Downie Gene: col11a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.451 COL11A1 Lilian Downie Publications for gene: COL11A1 were set to
Prepair 1000+ v1.450 CRLF1 Lilian Downie Marked gene: CRLF1 as ready
Prepair 1000+ v1.450 CRLF1 Lilian Downie Gene: crlf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.450 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252
Prepair 1000+ v1.450 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252
Prepair 1000+ v1.449 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to
Prepair 1000+ v1.448 CTC1 Lilian Downie Marked gene: CTC1 as ready
Prepair 1000+ v1.448 CTC1 Lilian Downie Gene: ctc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.448 CTC1 Lilian Downie Publications for gene: CTC1 were set to
Prepair 1000+ v1.447 CYBB Lilian Downie Marked gene: CYBB as ready
Prepair 1000+ v1.447 CYBB Lilian Downie Gene: cybb has been classified as Green List (High Evidence).
Prepair 1000+ v1.447 CYBB Lilian Downie Publications for gene: CYBB were set to
Prepair 1000+ v1.446 EML1 Lilian Downie Marked gene: EML1 as ready
Prepair 1000+ v1.446 EML1 Lilian Downie Gene: eml1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.446 EML1 Lilian Downie Publications for gene: EML1 were set to
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Marked gene: CYP1B1 as ready
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Gene: cyp1b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Phenotypes for gene: CYP1B1 were changed from Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300; Anterior segment dysgenesis 6, multiple subtypes, MIM#617315
Prepair 1000+ v1.444 CYP1B1 Lilian Downie Publications for gene: CYP1B1 were set to
Prepair 1000+ v1.443 ECEL1 Lilian Downie Marked gene: ECEL1 as ready
Prepair 1000+ v1.443 ECEL1 Lilian Downie Gene: ecel1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.443 ECEL1 Lilian Downie Publications for gene: ECEL1 were set to
Prepair 1000+ v1.442 ETHE1 Lilian Downie Marked gene: ETHE1 as ready
Prepair 1000+ v1.442 ETHE1 Lilian Downie Gene: ethe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.442 ETHE1 Lilian Downie Publications for gene: ETHE1 were set to
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Marked gene: EXOSC8 as ready
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Gene: exosc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Publications for gene: EXOSC8 were set to
Prepair 1000+ v1.440 FANCG Lilian Downie Marked gene: FANCG as ready
Prepair 1000+ v1.440 FANCG Lilian Downie Gene: fancg has been classified as Green List (High Evidence).
Prepair 1000+ v1.440 FANCG Lilian Downie Publications for gene: FANCG were set to
Prepair 1000+ v1.439 FANCI Lilian Downie Marked gene: FANCI as ready
Prepair 1000+ v1.439 FANCI Lilian Downie Gene: fanci has been classified as Green List (High Evidence).
Prepair 1000+ v1.439 FANCI Lilian Downie Publications for gene: FANCI were set to
Prepair 1000+ v1.438 FBLN5 Lilian Downie Marked gene: FBLN5 as ready
Prepair 1000+ v1.438 FBLN5 Lilian Downie Gene: fbln5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.438 FBLN5 Lilian Downie Publications for gene: FBLN5 were set to
Prepair 1000+ v1.437 FLNB Lilian Downie Marked gene: FLNB as ready
Prepair 1000+ v1.437 FLNB Lilian Downie Gene: flnb has been classified as Green List (High Evidence).
Prepair 1000+ v1.437 FLNB Lilian Downie Publications for gene: FLNB were set to
Prepair 1000+ v1.436 GALNS Lilian Downie Marked gene: GALNS as ready
Prepair 1000+ v1.436 GALNS Lilian Downie Gene: galns has been classified as Green List (High Evidence).
Prepair 1000+ v1.436 GALNS Lilian Downie Publications for gene: GALNS were set to
Prepair 1000+ v1.435 GPHN Lilian Downie Marked gene: GPHN as ready
Prepair 1000+ v1.435 GPHN Lilian Downie Gene: gphn has been classified as Green List (High Evidence).
Prepair 1000+ v1.435 GPHN Lilian Downie Publications for gene: GPHN were set to
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Marked gene: HSD3B2 as ready
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Gene: hsd3b2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Phenotypes for gene: HSD3B2 were changed from 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810
Prepair 1000+ v1.433 HSD3B2 Lilian Downie Publications for gene: HSD3B2 were set to
Prepair 1000+ v1.432 HTRA2 Lilian Downie Marked gene: HTRA2 as ready
Prepair 1000+ v1.432 HTRA2 Lilian Downie Gene: htra2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.432 HTRA2 Lilian Downie Publications for gene: HTRA2 were set to
Prepair 1000+ v1.431 HUWE1 Lilian Downie Marked gene: HUWE1 as ready
Prepair 1000+ v1.431 HUWE1 Lilian Downie Gene: huwe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.431 HUWE1 Lilian Downie Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type, 300706 (3) to Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590
Prepair 1000+ v1.430 HUWE1 Lilian Downie Publications for gene: HUWE1 were set to
Prepair 1000+ v1.429 IFT122 Lilian Downie Marked gene: IFT122 as ready
Prepair 1000+ v1.429 IFT122 Lilian Downie Gene: ift122 has been classified as Green List (High Evidence).
Prepair 1000+ v1.429 IFT122 Lilian Downie Publications for gene: IFT122 were set to
Prepair 1000+ v1.428 KIF1BP Lilian Downie Marked gene: KIF1BP as ready
Prepair 1000+ v1.428 KIF1BP Lilian Downie Gene: kif1bp has been classified as Green List (High Evidence).
Prepair 1000+ v1.428 KIF1BP Lilian Downie Publications for gene: KIF1BP were set to
Prepair 1000+ v1.427 ITGB4 Lilian Downie Marked gene: ITGB4 as ready
Prepair 1000+ v1.427 ITGB4 Lilian Downie Gene: itgb4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.427 ITGB4 Lilian Downie Publications for gene: ITGB4 were set to
Prepair 1000+ v1.426 KLHL41 Lilian Downie Marked gene: KLHL41 as ready
Prepair 1000+ v1.426 KLHL41 Lilian Downie Gene: klhl41 has been classified as Green List (High Evidence).
Prepair 1000+ v1.426 KLHL41 Lilian Downie Publications for gene: KLHL41 were set to
Prepair 1000+ v1.425 COL18A1 Lilian Downie Marked gene: COL18A1 as ready
Prepair 1000+ v1.425 COL18A1 Lilian Downie Gene: col18a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.425 COL18A1 Lilian Downie Publications for gene: COL18A1 were set to
Prepair 1000+ v1.424 COL6A1 Lilian Downie Marked gene: COL6A1 as ready
Prepair 1000+ v1.424 COL6A1 Lilian Downie Gene: col6a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.424 COL6A1 Lilian Downie Publications for gene: COL6A1 were set to
Prepair 1000+ v1.423 CPS1 Lilian Downie Marked gene: CPS1 as ready
Prepair 1000+ v1.423 CPS1 Lilian Downie Gene: cps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.423 CPS1 Lilian Downie Publications for gene: CPS1 were set to
Prepair 1000+ v1.422 PEX3 Lilian Downie Marked gene: PEX3 as ready
Prepair 1000+ v1.422 PEX3 Lilian Downie Gene: pex3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.422 PEX3 Lilian Downie Phenotypes for gene: PEX3 were changed from Peroxisome biogenesis disorder 10A (Zellweger), 614882 to Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882; Peroxisome biogenesis disorder 10B MIM#617370; Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261
Prepair 1000+ v1.421 PEX3 Lilian Downie Publications for gene: PEX3 were set to
Intellectual disability syndromic and non-syndromic v0.6526 GLYCTK Bryony Thompson Marked gene: GLYCTK as ready
Intellectual disability syndromic and non-syndromic v0.6526 GLYCTK Bryony Thompson Gene: glyctk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6526 GLYCTK Bryony Thompson Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria MONDO:0009070
Intellectual disability syndromic and non-syndromic v0.6525 GLYCTK Bryony Thompson Publications for gene: GLYCTK were set to
Intellectual disability syndromic and non-syndromic v0.6524 GLYCTK Bryony Thompson Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6523 GLYCTK Bryony Thompson Classified gene: GLYCTK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6523 GLYCTK Bryony Thompson Gene: glyctk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6522 GLYCTK Bryony Thompson reviewed gene: GLYCTK: Rating: AMBER; Mode of pathogenicity: None; Publications: 20949620, 31837836, 3588091, 30637540, 28462797, 20949620, 28190537; Phenotypes: D-glyceric aciduria MONDO:0009070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6522 GLI3 Bryony Thompson Marked gene: GLI3 as ready
Intellectual disability syndromic and non-syndromic v0.6522 GLI3 Bryony Thompson Gene: gli3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6522 GLI3 Bryony Thompson Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome MONDO:0008287
Intellectual disability syndromic and non-syndromic v0.6521 GLI3 Bryony Thompson Publications for gene: GLI3 were set to
Intellectual disability syndromic and non-syndromic v0.6520 GLI3 Bryony Thompson Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6519 GLI3 Bryony Thompson reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301619, 20301638; Phenotypes: Greig cephalopolysyndactyly syndrome MONDO:0008287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6519 GLI2 Bryony Thompson Marked gene: GLI2 as ready
Intellectual disability syndromic and non-syndromic v0.6519 GLI2 Bryony Thompson Gene: gli2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6519 GLI2 Bryony Thompson Phenotypes for gene: GLI2 were changed from to postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369
Intellectual disability syndromic and non-syndromic v0.6518 GLI2 Bryony Thompson Publications for gene: GLI2 were set to
Intellectual disability syndromic and non-syndromic v0.6517 GLI2 Bryony Thompson Mode of inheritance for gene: GLI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6516 GLI2 Bryony Thompson reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24744436; Phenotypes: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6516 GLDC Bryony Thompson Marked gene: GLDC as ready
Intellectual disability syndromic and non-syndromic v0.6516 GLDC Bryony Thompson Gene: gldc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6516 GLDC Bryony Thompson Phenotypes for gene: GLDC were changed from to glycine encephalopathy MONDO:0011612
Intellectual disability syndromic and non-syndromic v0.6515 GLDC Bryony Thompson Publications for gene: GLDC were set to
Intellectual disability syndromic and non-syndromic v0.6514 GLDC Bryony Thompson Mode of inheritance for gene: GLDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6513 GLDC Bryony Thompson reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301531; Phenotypes: glycine encephalopathy MONDO:0011612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6513 GLB1 Bryony Thompson Marked gene: GLB1 as ready
Intellectual disability syndromic and non-syndromic v0.6513 GLB1 Bryony Thompson Gene: glb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6513 GLB1 Bryony Thompson Phenotypes for gene: GLB1 were changed from to GM1 gangliosidosis MONDO:0018149; mucopolysaccharidosis type 4B MONDO:0009660
Intellectual disability syndromic and non-syndromic v0.6512 GLB1 Bryony Thompson Publications for gene: GLB1 were set to
Intellectual disability syndromic and non-syndromic v0.6511 GLB1 Bryony Thompson Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6510 GLB1 Bryony Thompson reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1 gangliosidosis MONDO:0018149, mucopolysaccharidosis type 4B MONDO:0009660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6510 GK Bryony Thompson Marked gene: GK as ready
Intellectual disability syndromic and non-syndromic v0.6510 GK Bryony Thompson Gene: gk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6510 GK Bryony Thompson Phenotypes for gene: GK were changed from to inborn glycerol kinase deficiency MONDO:0010613; X-linked adrenal hypoplasia congenita MONDO:0010264
Intellectual disability syndromic and non-syndromic v0.6509 GK Bryony Thompson Publications for gene: GK were set to
Intellectual disability syndromic and non-syndromic v0.6508 GK Bryony Thompson Mode of inheritance for gene: GK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6507 GK Bryony Thompson Tag SV/CNV tag was added to gene: GK.
Intellectual disability syndromic and non-syndromic v0.6507 GK Bryony Thompson reviewed gene: GK: Rating: GREEN; Mode of pathogenicity: None; Publications: 37091526, 33212314; Phenotypes: inborn glycerol kinase deficiency MONDO:0010613, X-linked adrenal hypoplasia congenita MONDO:0010264; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.420 PEX3 Lucy Spencer reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882, Peroxisome biogenesis disorder 10B MIM#617370, Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CPS1 Andrew Coventry reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760 17310273 21120950 9862865 29801986 27834067 27150549 22173106; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL6A1 Andrew Coventry reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676 25535305 15955946 23738969 29277723 24443028; Phenotypes: Ullrich congenital muscular dystrophy 1A MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL18A1 Andrew Coventry reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167 25456301 30007336; Phenotypes: Knobloch syndrome, type 1 MIM#267750; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6507 MAL Zornitza Stark Phenotypes for gene: MAL were changed from Leukodystrophy MONDO:0019046, MAL-related to Leukodystrophy, hypomyelinating, 28, MIM# 620978
Intellectual disability syndromic and non-syndromic v0.6506 MAL Zornitza Stark edited their review of gene: MAL: Changed phenotypes: Leukodystrophy, hypomyelinating, 28, MIM# 620978
Mendeliome v1.2064 MAL Zornitza Stark Phenotypes for gene: MAL were changed from Leukodystrophy MONDO:0019046, MAL-related to Leukodystrophy, hypomyelinating, 28, MIM# 620978
Mendeliome v1.2063 MAL Zornitza Stark edited their review of gene: MAL: Changed phenotypes: Leukodystrophy, hypomyelinating, 28, MIM# 620978
Leukodystrophy - paediatric v0.314 MAL Zornitza Stark Phenotypes for gene: MAL were changed from Leukodystrophy MONDO:0019046, MAL-related to Leukodystrophy, hypomyelinating, 28, MIM# 620978
Leukodystrophy - paediatric v0.313 MAL Zornitza Stark edited their review of gene: MAL: Changed phenotypes: Leukodystrophy, hypomyelinating, 28, MIM# 620978
Prepair 1000+ v1.420 KLHL41 Lisa Norbart reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM#615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 KIF1BP Lisa Norbart reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148, 15883926; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ITGB4 Lisa Norbart reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32017015, 11328943, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 IFT122 Lisa Norbart reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20817137, 20493458, 23826986, 26792575, 29220510, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM#218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 HUWE1 Lisa Norbart reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 7943042, 27130160; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.420 HTRA2 Lisa Norbart reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: 3-methylglutaconic aciduria, type VIII, MIM#617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 HSD3B2 Lisa Norbart reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33757164, 1363812; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 GPHN Lisa Norbart reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22040219, 11095995, 12754701; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 GALNS Lisa Norbart reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823, 23137060, 18412124; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FLNB Lisa Norbart reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29566257, 22190451, 17360453, 20301736; Phenotypes: Spondylocarpotarsal synostosis syndrome, MIM#272460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FBLN5 Lisa Norbart reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 3232707, 22829427, 31945625, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FANCI Lisa Norbart reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773, 20301575, 26590883; Phenotypes: Fanconi anemia, complementation group I, MIM#609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FANCG Lisa Norbart reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9806548, 12552564; Phenotypes: Fanconi anemia, complementation group G, MIM#614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 EXOSC8 Cassandra Muller reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38017281; Phenotypes: Pontocerebellar hypoplasia, type 1C, 616081 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ETHE1 Lisa Norbart reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy, MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ECEL1 Lisa Norbart reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM#615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CYP1B1 Lisa Norbart reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9463332, 10655546, 12372064, 21081970; Phenotypes: Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300, Anterior segment dysgenesis 6, multiple subtypes, MIM#617315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 EML1 Cassandra Muller reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia, 600348 (3), Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CYBB Lisa Norbart reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2556453, 1710153, 9585602; Phenotypes: Chronic granulomatous disease, X-linked, MIM#306400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CTC1 Lisa Norbart reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM#612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CRLF1 Lisa Norbart reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL11A1 Lisa Norbart reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035103, 32427345; Phenotypes: Fibrochondrogenesis 1, MIM#228520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 DNAAF5 Cassandra Muller reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 25232951, 29363216; Phenotypes: Ciliary dyskinesia, primary, 18, 614874 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CLPP Lisa Norbart reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CAPN3 Lisa Norbart reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937337, 28881388, 32342993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CABP4 Lisa Norbart reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6506 GJC2 Bryony Thompson Marked gene: GJC2 as ready
Intellectual disability syndromic and non-syndromic v0.6506 GJC2 Bryony Thompson Gene: gjc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6506 GJC2 Bryony Thompson Phenotypes for gene: GJC2 were changed from to hypomyelinating leukodystrophy 2 MONDO:0012125; hereditary spastic paraplegia 44 MONDO:0013179
Intellectual disability syndromic and non-syndromic v0.6505 GJC2 Bryony Thompson reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276893; Phenotypes: hypomyelinating leukodystrophy 2 MONDO:0012125, hereditary spastic paraplegia 44 MONDO:0013179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Callosome v0.530 PSMF1 Boris Keren gene: PSMF1 was added
gene: PSMF1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to doi: 10.1101/2024.06.19.24308302
Penetrance for gene: PSMF1 were set to Complete
Review for gene: PSMF1 was set to GREEN
Added comment: Patients have a range of neurological disorders ranging from neonatal lethality to Parkinsonism with intellectual disability.
Nearly all patients have corpus callosum agenesis.
LoF have a more severe phenotype than missense. The association of a LoF and a missense is common.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6505 GJC2 Bryony Thompson Publications for gene: GJC2 were set to
Intellectual disability syndromic and non-syndromic v0.6504 GJC2 Bryony Thompson Mode of inheritance for gene: GJC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6503 GFM1 Bryony Thompson Marked gene: GFM1 as ready
Intellectual disability syndromic and non-syndromic v0.6503 GFM1 Bryony Thompson Gene: gfm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6503 GFM1 Bryony Thompson Phenotypes for gene: GFM1 were changed from to Leigh syndrome MONDO:0009723
Intellectual disability syndromic and non-syndromic v0.6502 GFM1 Bryony Thompson Publications for gene: GFM1 were set to
Intellectual disability syndromic and non-syndromic v0.6501 GFM1 Bryony Thompson Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6500 GFM1 Bryony Thompson reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25852744, 31680380, 21986555, 32776492; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.420 COG5 Andrew Coventry reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021 31572517 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi MIM#613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CNTNAP2 Andrew Coventry reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880 19896112 27439707 37183190 30762603; Phenotypes: Pitt-Hopkins like syndrome 1 MIM#610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CIT Andrew Coventry reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578 27503289 27453579 27519304; Phenotypes: Microcephaly 17, primary, autosomal recessive MIM#617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CHAT Andrew Coventry reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068 12756141 31192527 29518833 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic MIM#254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CDC45 Andrew Coventry reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763 27374770 30986546 33639314 34000999 11416137 21358631; Phenotypes: Meier-Gorlin syndrome 7 MIM#617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 BGN Andrew Coventry reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531898; Phenotypes: Meester-Loeys syndrome MIM#300989 Spondyloepimetaphyseal dysplasia, X-linked MIM#300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.420 ATCAY Andrew Coventry reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: 14556008 29449188 23226316 26343454 37752557; Phenotypes: Ataxia, cerebellar, Cayman type MIM#601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ASL Andrew Coventry edited their review of gene: ASL: Added comment: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ASL Andrew Coventry Deleted their comment
Prepair 1000+ v1.420 ASL Andrew Coventry changed review comment from: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; to: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association
Prepair 1000+ v1.420 ASL Andrew Coventry reviewed gene: ASL: Rating: ; Mode of pathogenicity: None; Publications: 2263616 12384776; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: None
Prepair 1000+ v1.420 AIMP1 Andrew Coventry reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922 24958424 33402283 32531460 30486714 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3 MIM#260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 AGT Andrew Coventry reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425 34234805 33163725; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 AGBL5 Andrew Coventry reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26720455 26355662 30925032 38078364 27842159; Phenotypes: Retinitis pigmentosa 75 MIM#617023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ZFYVE26 Andrew Coventry reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 34057829 33033739; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 YARS2 Andrew Coventry reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573 24344687 32183361; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 WDR60 Andrew Coventry reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462 29271569 26874042 37228654; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly MIM#615503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Parathyroid Tumour v1.1 Chirag Patel Panel name changed from Parathyroid Cancer to Parathyroid Tumour
Mendeliome v1.2063 DHRSX Achchuthan Shanmugasundram commented on gene: DHRSX: Note that this gene is located in the pseudoautosomal region 1.
Mendeliome v1.2063 DHRSX Achchuthan Shanmugasundram gene: DHRSX was added
gene: DHRSX was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6500 SLC12A5 Zornitza Stark Marked gene: SLC12A5 as ready
Intellectual disability syndromic and non-syndromic v0.6500 SLC12A5 Zornitza Stark Gene: slc12a5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6500 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from to Developmental and epileptic encephalopathy 34, MIM# 616645
Intellectual disability syndromic and non-syndromic v0.6499 SLC12A5 Zornitza Stark Publications for gene: SLC12A5 were set to
Intellectual disability syndromic and non-syndromic v0.6498 SLC12A5 Zornitza Stark Mode of inheritance for gene: SLC12A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6497 SLC12A5 Zornitza Stark changed review comment from: Note LIMITED by ClinGen. However, note functional evidence including mouse model.

Ten variants (missense, small in-frame deletions, and splicing) that have been reported in six probands in three publications (PMIDs: 26333769, 27436767, 31618474) are included in this curation. There is some preliminary evidence to suggest that the mechanism of pathogenicity may be loss of function. Electrophysiological studies showed reduced transporter activity of proteins with some variants, although few studies are available at this time (PMIDs: 26333769, 27436767). This gene-disease relationship is also supported by a knockout mouse model in which gentle handling or movement of the mother and littermates triggered seizures (PMID: 12000122). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.; to: LIMITED by ClinGen. However, note functional evidence including mouse model and additional family in 38660387, again with supportive functional data.

Ten variants (missense, small in-frame deletions, and splicing) that have been reported in six probands in three publications (PMIDs: 26333769, 27436767, 31618474) are included in this curation. There is some preliminary evidence to suggest that the mechanism of pathogenicity may be loss of function. Electrophysiological studies showed reduced transporter activity of proteins with some variants, although few studies are available at this time (PMIDs: 26333769, 27436767). This gene-disease relationship is also supported by a knockout mouse model in which gentle handling or movement of the mother and littermates triggered seizures (PMID: 12000122). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
Intellectual disability syndromic and non-syndromic v0.6497 SLC12A5 Zornitza Stark edited their review of gene: SLC12A5: Changed publications: 26333769, 27436767, 31618474, 12000122, 38660387
Intellectual disability syndromic and non-syndromic v0.6497 SLC12A5 Zornitza Stark reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 31618474, 12000122; Phenotypes: Developmental and epileptic encephalopathy 34, MIM# 616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Meckel syndrome 7, 267010 (3) to Renal-hepatic-pancreatic dysplasia 1 MIM#208540; Meckel syndrome 7 MIM#267010; Nephronophthisis 3 MIM#604387
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex 1 deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 16 MIM#618238
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from Charcot-Marie-Tooth disease, type 4D, 601455 (3) to Charcot-Marie-Tooth disease, type 4D MIM#601455
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382 (3) to Charcot-Marie-Tooth disease, type 4B1, MIM#601382
Prepair 1000+ v1.414 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Prepair 1000+ v1.414 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Prepair 1000+ v1.414 MPDZ Zornitza Stark Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3) to Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219
Prepair 1000+ v1.413 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Prepair 1000+ v1.413 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Prepair 1000+ v1.413 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency, 248360 (3) to Malonyl-CoA decarboxylase deficiency, MIM#248360
Prepair 1000+ v1.412 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Prepair 1000+ v1.412 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.412 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, 615084 (3) to Mitochondrial DNA depletion syndrome 11, MIM#615084
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Marked gene: LPIN2 as ready
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Gene: lpin2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Phenotypes for gene: LPIN2 were changed from Majeed syndrome, 609628 (3) to Majeed syndrome MIM#609628
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Prepair 1000+ v1.409 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Prepair 1000+ v1.408 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Prepair 1000+ v1.408 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Prepair 1000+ v1.408 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358 (3) to GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000
Prepair 1000+ v1.407 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Prepair 1000+ v1.406 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Prepair 1000+ v1.406 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Prepair 1000+ v1.406 BCKDK Zornitza Stark Publications for gene: BCKDK were set to
Prepair 1000+ v1.405 CLPB Zornitza Stark Marked gene: CLPB as ready
Prepair 1000+ v1.405 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Prepair 1000+ v1.405 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) to 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)
Prepair 1000+ v1.404 CLPB Zornitza Stark Publications for gene: CLPB were set to
Prepair 1000+ v1.403 TPM3 Zornitza Stark Marked gene: TPM3 as ready
Prepair 1000+ v1.403 TPM3 Zornitza Stark Gene: tpm3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.403 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3) to Congenital myopathy 4B, autosomal recessive MIM#609284
Prepair 1000+ v1.402 TPM3 Zornitza Stark Publications for gene: TPM3 were set to
Prepair 1000+ v1.401 TPI1 Zornitza Stark Marked gene: TPI1 as ready
Prepair 1000+ v1.401 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.401 TPI1 Zornitza Stark Phenotypes for gene: TPI1 were changed from Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512
Prepair 1000+ v1.400 TPI1 Zornitza Stark Publications for gene: TPI1 were set to
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, 239000 (3) to Paget disease of bone 5, juvenile-onset MIM#239000
Prepair 1000+ v1.398 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Prepair 1000+ v1.397 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Prepair 1000+ v1.397 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.397 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive to Intellectual developmental disorder, X-linked 12 MIM#300957
Prepair 1000+ v1.396 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from HELIX syndrome, 617671 (3), Autosomal recessive to HELIX syndrome, MIM#617671
Prepair 1000+ v1.394 CLDN10 Zornitza Stark Publications for gene: CLDN10 were set to
Prepair 1000+ v1.393 CLDN10 Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927623; Phenotypes: HELIX syndrome, MIM#617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.393 CFP Zornitza Stark Marked gene: CFP as ready
Prepair 1000+ v1.393 CFP Zornitza Stark Gene: cfp has been classified as Green List (High Evidence).
Prepair 1000+ v1.393 CFP Zornitza Stark Publications for gene: CFP were set to
Prepair 1000+ v1.392 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Prepair 1000+ v1.392 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.392 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from Usher syndrome, type 1D, 601067 (3) to Usher syndrome, type 1D (MIM#601067)
Prepair 1000+ v1.391 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
Prepair 1000+ v1.390 NUP62 Lucy Spencer reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NPHP3 Lucy Spencer reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1 MIM#208540, Meckel syndrome 7 MIM#267010, Nephronophthisis 3 MIM#604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NPHP1 Lucy Spencer reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 1, juvenile MIM#256100, Joubert syndrome 4 MIM#609583, Senior-Loken syndrome-1 MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NDUFAF5 Lucy Spencer reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16 MIM#618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NDUFA1 Lucy Spencer reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 NDRG1 Lucy Spencer reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4D MIM#601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MTMR2 Lucy Spencer reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1 MIM#601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MPDZ Lucy Spencer reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MLYCD Lucy Spencer reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MGME1 Lucy Spencer reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 11 MIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 LPIN2 Lucy Spencer reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Majeed syndrome MIM#609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BRAT1 Lisa Norbart reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546, 23035047, 25319849, 25500575; Phenotypes: Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BCS1L Lisa Norbart reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 17314340; Phenotypes: GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type 1, MIM#124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BCKDK Lisa Norbart reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: 22956686, 24449431; Phenotypes: Branched-chain keto acid dehydrogenase kinase deficiency, MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tremors_Superpanel v3.25 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Intellectual disability syndromic and non-syndromic v0.6497 SC5D Zornitza Stark Marked gene: SC5D as ready
Intellectual disability syndromic and non-syndromic v0.6497 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6497 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from to Lathosterolosis, MIM#607330
Intellectual disability syndromic and non-syndromic v0.6496 SC5D Zornitza Stark Publications for gene: SC5D were set to
Intellectual disability syndromic and non-syndromic v0.6495 SC5D Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6494 SC5D Zornitza Stark changed review comment from: Well established gene-disease association. DD/ID is part of the phenotype.; to: Well established gene-disease association. DD/ID is part of the phenotype. More than 5 families reported.
Intellectual disability syndromic and non-syndromic v0.6494 SC5D Zornitza Stark edited their review of gene: SC5D: Changed publications: 17853487, 12189593, 12812989, 24142275
Intellectual disability syndromic and non-syndromic v0.6494 SC5D Zornitza Stark reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6494 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Intellectual disability syndromic and non-syndromic v0.6494 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6494 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal recessive 5, MIM#615190 to Dyskeratosis congenita, autosomal recessive 5, MIM#615190
Intellectual disability syndromic and non-syndromic v0.6493 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Dyskeratosis congenita, autosomal recessive 5, MIM#615190
Intellectual disability syndromic and non-syndromic v0.6492 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6491 RTEL1 Zornitza Stark reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, MIM#615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6491 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Intellectual disability syndromic and non-syndromic v0.6491 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6491 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Intellectual disability syndromic and non-syndromic v0.6490 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6489 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.286 UFC1 Zornitza Stark Tag deep intronic tag was added to gene: UFC1.
Intellectual disability syndromic and non-syndromic v0.6489 UFC1 Zornitza Stark Tag deep intronic tag was added to gene: UFC1.
Intellectual disability syndromic and non-syndromic v0.6489 UFC1 Zornitza Stark reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity and poor growth, OMIM #618076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.286 UFC1 Zornitza Stark commented on gene: UFC1: Note the NM_016406.4:c.255+17G>A variant is relatively common disease-causing variant.
Microcephaly v1.286 UFC1 Zornitza Stark edited their review of gene: UFC1: Changed phenotypes: Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)
Microcephaly v1.286 UFC1 Zornitza Stark reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2063 UFC1 Zornitza Stark Tag deep intronic tag was added to gene: UFC1.
Mendeliome v1.2063 UFC1 Zornitza Stark reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity and poor growth (MIM#618076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 CLPB Crystle Lee reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34140661; Phenotypes: 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v1.24 SOD1 Bryony Thompson Tag treatable tag was added to gene: SOD1.
Intellectual disability syndromic and non-syndromic v0.6489 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Intellectual disability syndromic and non-syndromic v0.6489 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6489 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from to Coffin-Lowry syndrome MIM# 303600
Intellectual disability syndromic and non-syndromic v0.6488 RPS6KA3 Zornitza Stark Mode of inheritance for gene: RPS6KA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6487 RPS6KA3 Zornitza Stark reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Lowry syndrome MIM# 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6487 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Intellectual disability syndromic and non-syndromic v0.6487 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6487 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561
Intellectual disability syndromic and non-syndromic v0.6486 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6485 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6485 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Intellectual disability syndromic and non-syndromic v0.6485 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6485 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951
Intellectual disability syndromic and non-syndromic v0.6484 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Intellectual disability syndromic and non-syndromic v0.6483 RNASET2 Zornitza Stark Mode of inheritance for gene: RNASET2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6482 RNASET2 Zornitza Stark edited their review of gene: RNASET2: Added comment: More than 10 families reported, DD/ID is part of the phenotype.; Changed publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732
Intellectual disability syndromic and non-syndromic v0.6482 RNASET2 Zornitza Stark reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6482 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Intellectual disability syndromic and non-syndromic v0.6482 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6482 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, MIM# 610329
Intellectual disability syndromic and non-syndromic v0.6481 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6480 RNASEH2C Zornitza Stark reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6480 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Intellectual disability syndromic and non-syndromic v0.6480 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6480 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Intellectual disability syndromic and non-syndromic v0.6479 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6478 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6478 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Intellectual disability syndromic and non-syndromic v0.6478 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6478 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, MIM# 610333
Intellectual disability syndromic and non-syndromic v0.6477 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6476 RNASEH2A Zornitza Stark reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 4, MIM# 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6476 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Intellectual disability syndromic and non-syndromic v0.6476 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6476 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11 MIM#614922
Intellectual disability syndromic and non-syndromic v0.6475 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Intellectual disability syndromic and non-syndromic v0.6474 RMND1 Zornitza Stark Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6473 RMND1 Zornitza Stark reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6473 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Intellectual disability syndromic and non-syndromic v0.6473 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6473 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from to Noonan syndrome 8, MIM# 615355
Intellectual disability syndromic and non-syndromic v0.6472 RIT1 Zornitza Stark Publications for gene: RIT1 were set to
Intellectual disability syndromic and non-syndromic v0.6471 RIT1 Zornitza Stark Mode of pathogenicity for gene: RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.6470 RIT1 Zornitza Stark Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6469 RFC4 Zornitza Stark Marked gene: RFC4 as ready
Intellectual disability syndromic and non-syndromic v0.6469 RFC4 Zornitza Stark Gene: rfc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6469 RFC4 Zornitza Stark Phenotypes for gene: RFC4 were changed from RFC4-related multisystem disorder to Neurodevelopmental disorder, MONDO:0700092, RFC4-related
Intellectual disability syndromic and non-syndromic v0.6468 RFC4 Zornitza Stark reviewed gene: RFC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RFC4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6468 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Intellectual disability syndromic and non-syndromic v0.6468 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6468 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Intellectual disability syndromic and non-syndromic v0.6467 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Intellectual disability syndromic and non-syndromic v0.6466 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6465 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Parathyroid Tumour v1.0 Zornitza Stark promoted panel to version 1.0
Parathyroid Tumour v0.14 Zornitza Stark Panel status changed from internal to public
Pituitary Tumour v1.0 Zornitza Stark promoted panel to version 1.0
Pituitary Tumour v0.20 Zornitza Stark Panel status changed from internal to public
Pituitary Tumour v0.19 SDHD Zornitza Stark Marked gene: SDHD as ready
Pituitary Tumour v0.19 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 SDHC Zornitza Stark Marked gene: SDHC as ready
Pituitary Tumour v0.19 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 SDHB Zornitza Stark Marked gene: SDHB as ready
Pituitary Tumour v0.19 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 SDHA Zornitza Stark Marked gene: SDHA as ready
Pituitary Tumour v0.19 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Pituitary Tumour v0.19 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Pituitary Tumour v0.19 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 CDKN1B Zornitza Stark Marked gene: CDKN1B as ready
Pituitary Tumour v0.19 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
Pituitary Tumour v0.19 AIP Zornitza Stark Marked gene: AIP as ready
Pituitary Tumour v0.19 AIP Zornitza Stark Gene: aip has been classified as Green List (High Evidence).
Prostate Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Prostate Cancer v0.25 Zornitza Stark Panel status changed from internal to public
Prostate Cancer v0.24 TP53 Zornitza Stark Marked gene: TP53 as ready
Prostate Cancer v0.24 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Prostate Cancer v0.24 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Prostate Cancer v0.24 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Prostate Cancer v0.24 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Prostate Cancer v0.24 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Prostate Cancer v0.24 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 HOXB13 Zornitza Stark Marked gene: HOXB13 as ready
Prostate Cancer v0.24 HOXB13 Zornitza Stark Gene: hoxb13 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Prostate Cancer v0.24 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Prostate Cancer v0.24 CHEK2 Zornitza Stark Marked gene: CHEK2 as ready
Prostate Cancer v0.24 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Prostate Cancer v0.24 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Prostate Cancer v0.24 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Prostate Cancer v0.24 ATM Zornitza Stark Marked gene: ATM as ready
Prostate Cancer v0.24 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Sarcoma non-soft tissue v1.0 Zornitza Stark promoted panel to version 1.0
Sarcoma non-soft tissue v0.16 Zornitza Stark Panel status changed from internal to public
Sarcoma non-soft tissue v0.15 WRN Zornitza Stark Marked gene: WRN as ready
Sarcoma non-soft tissue v0.15 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Sarcoma non-soft tissue v0.15 TP53 Zornitza Stark Marked gene: TP53 as ready
Sarcoma non-soft tissue v0.15 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Sarcoma non-soft tissue v0.15 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Sarcoma non-soft tissue v0.15 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Sarcoma non-soft tissue v0.15 RB1 Zornitza Stark Marked gene: RB1 as ready
Sarcoma non-soft tissue v0.15 RB1 Zornitza Stark Gene: rb1 has been classified as Green List (High Evidence).
Sarcoma non-soft tissue v0.15 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Sarcoma non-soft tissue v0.15 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Sarcoma non-soft tissue v0.15 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Sarcoma non-soft tissue v0.15 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Sarcoma non-soft tissue v0.15 BLM Zornitza Stark Marked gene: BLM as ready
Sarcoma non-soft tissue v0.15 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Sarcoma soft tissue v1.0 Zornitza Stark promoted panel to version 1.0
Sarcoma soft tissue v0.36 Zornitza Stark Panel status changed from internal to public
Sarcoma soft tissue v0.35 POT1 Zornitza Stark Marked gene: POT1 as ready
Sarcoma soft tissue v0.35 POT1 Zornitza Stark Gene: pot1 has been classified as Amber List (Moderate Evidence).
Sarcoma soft tissue v0.35 POT1 Zornitza Stark Publications for gene: POT1 were set to PMID: 36656928, 37466057
Sarcoma soft tissue v0.34 WRN Zornitza Stark Marked gene: WRN as ready
Sarcoma soft tissue v0.34 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 TP53 Zornitza Stark Marked gene: TP53 as ready
Sarcoma soft tissue v0.34 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Sarcoma soft tissue v0.34 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Sarcoma soft tissue v0.34 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 RB1 Zornitza Stark Marked gene: RB1 as ready
Sarcoma soft tissue v0.34 RB1 Zornitza Stark Gene: rb1 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Sarcoma soft tissue v0.34 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 NF1 Zornitza Stark Marked gene: NF1 as ready
Sarcoma soft tissue v0.34 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 NBN Zornitza Stark Marked gene: NBN as ready
Sarcoma soft tissue v0.34 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Sarcoma soft tissue v0.34 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Sarcoma soft tissue v0.34 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Sarcoma soft tissue v0.34 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 HRAS Zornitza Stark Marked gene: HRAS as ready
Sarcoma soft tissue v0.34 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 DICER1 Zornitza Stark Marked gene: DICER1 as ready
Sarcoma soft tissue v0.34 DICER1 Zornitza Stark Gene: dicer1 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Sarcoma soft tissue v0.34 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Sarcoma soft tissue v0.34 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Sarcoma soft tissue v0.34 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Sarcoma soft tissue v0.34 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Schwannoma v1.0 Zornitza Stark promoted panel to version 1.0
Schwannoma v0.14 Zornitza Stark Panel status changed from internal to public
Schwannoma v0.13 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Schwannoma v0.13 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Schwannoma v0.13 DGCR8 Zornitza Stark Marked gene: DGCR8 as ready
Schwannoma v0.13 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Schwannoma v0.13 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Schwannoma v0.13 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Schwannoma v0.13 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Schwannoma v0.13 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Schwannoma v0.13 NF2 Zornitza Stark Marked gene: NF2 as ready
Schwannoma v0.13 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Schwannoma v0.13 NF1 Zornitza Stark Marked gene: NF1 as ready
Schwannoma v0.13 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Schwannoma v0.13 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Schwannoma v0.13 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Schwannoma v0.13 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to PMID: 24362817, 29517885
Thyroid Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Thyroid Cancer v0.15 Zornitza Stark Panel status changed from internal to public
Wilms Tumour v1.0 Zornitza Stark promoted panel to version 1.0
Wilms Tumour v0.41 Zornitza Stark Panel status changed from internal to public
Wilms Tumour v0.40 TP53 Zornitza Stark Marked gene: TP53 as ready
Wilms Tumour v0.40 TP53 Zornitza Stark Gene: tp53 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Wilms Tumour v0.40 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 CTCF Zornitza Stark Marked gene: CTCF as ready
Wilms Tumour v0.40 CTCF Zornitza Stark Gene: ctcf has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Wilms Tumour v0.40 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Wilms Tumour v0.40 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Wilms Tumour v0.40 AMER1 Zornitza Stark Gene: amer1 has been classified as Red List (Low Evidence).
Wilms Tumour v0.40 NYNRIN Zornitza Stark Marked gene: NYNRIN as ready
Wilms Tumour v0.40 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.40 FBXW7 Zornitza Stark Marked gene: FBXW7 as ready
Wilms Tumour v0.40 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.40 DICER1 Zornitza Stark Marked gene: DICER1 as ready
Wilms Tumour v0.40 DICER1 Zornitza Stark Gene: dicer1 has been classified as Amber List (Moderate Evidence).
Wilms Tumour v0.40 WT1 Zornitza Stark Marked gene: WT1 as ready
Wilms Tumour v0.40 WT1 Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Wilms Tumour v0.40 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Wilms Tumour v0.40 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Wilms Tumour v0.40 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 REST Zornitza Stark Marked gene: REST as ready
Wilms Tumour v0.40 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Wilms Tumour v0.40 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Wilms Tumour v0.40 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Wilms Tumour v0.40 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Wilms Tumour v0.40 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 CTR9 Zornitza Stark Marked gene: CTR9 as ready
Wilms Tumour v0.40 CTR9 Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence).
Wilms Tumour v0.40 CTR9 Zornitza Stark Publications for gene: CTR9 were set to PMID: 25099282, 39293508, 29292210
Wilms Tumour v0.39 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Wilms Tumour v0.39 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Wilms Tumour v0.39 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Wilms Tumour v0.39 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Wilms Tumour v0.39 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Wilms Tumour v0.39 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Wilms Tumour v0.39 BLM Zornitza Stark Marked gene: BLM as ready
Wilms Tumour v0.39 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v1.0 Zornitza Stark promoted panel to version 1.0
Paraganglioma_phaeochromocytoma v0.33 Zornitza Stark Panel status changed from internal to public
Paraganglioma_phaeochromocytoma v0.32 SLC25A11 Zornitza Stark Marked gene: SLC25A11 as ready
Paraganglioma_phaeochromocytoma v0.32 SLC25A11 Zornitza Stark Gene: slc25a11 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.32 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Paraganglioma_phaeochromocytoma v0.32 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.32 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Paraganglioma_phaeochromocytoma v0.32 MDH2 Zornitza Stark Gene: mdh2 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.32 MDH2 Zornitza Stark Publications for gene: MDH2 were set to PMID: 25766404, 30008476
Paraganglioma_phaeochromocytoma v0.31 EPAS1 Zornitza Stark Marked gene: EPAS1 as ready
Paraganglioma_phaeochromocytoma v0.31 EPAS1 Zornitza Stark Gene: epas1 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.31 EPAS1 Zornitza Stark Publications for gene: EPAS1 were set to PMID: 22931260, 23418310, 33300499
Paraganglioma_phaeochromocytoma v0.30 EGLN1 Zornitza Stark Marked gene: EGLN1 as ready
Paraganglioma_phaeochromocytoma v0.30 EGLN1 Zornitza Stark Gene: egln1 has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.30 DLST Zornitza Stark Marked gene: DLST as ready
Paraganglioma_phaeochromocytoma v0.30 DLST Zornitza Stark Gene: dlst has been classified as Red List (Low Evidence).
Paraganglioma_phaeochromocytoma v0.30 VHL Zornitza Stark Marked gene: VHL as ready
Paraganglioma_phaeochromocytoma v0.30 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Paraganglioma_phaeochromocytoma v0.30 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHD Zornitza Stark Marked gene: SDHD as ready
Paraganglioma_phaeochromocytoma v0.30 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHC Zornitza Stark Marked gene: SDHC as ready
Paraganglioma_phaeochromocytoma v0.30 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHB Zornitza Stark Marked gene: SDHB as ready
Paraganglioma_phaeochromocytoma v0.30 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Paraganglioma_phaeochromocytoma v0.30 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 SDHA Zornitza Stark Marked gene: SDHA as ready
Paraganglioma_phaeochromocytoma v0.30 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 RET Zornitza Stark Marked gene: RET as ready
Paraganglioma_phaeochromocytoma v0.30 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 NF1 Zornitza Stark Marked gene: NF1 as ready
Paraganglioma_phaeochromocytoma v0.30 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Paraganglioma_phaeochromocytoma v0.30 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 MAX Zornitza Stark Marked gene: MAX as ready
Paraganglioma_phaeochromocytoma v0.30 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Paraganglioma_phaeochromocytoma v0.30 FH Zornitza Stark Marked gene: FH as ready
Paraganglioma_phaeochromocytoma v0.30 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Pancreatic Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Pancreatic Cancer v0.25 Zornitza Stark Panel status changed from internal to public
Ovarian Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Ovarian Cancer v0.25 Zornitza Stark Panel status changed from internal to public
Ovarian Cancer v0.24 TP53 Zornitza Stark Marked gene: TP53 as ready
Ovarian Cancer v0.24 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 RAD51D Zornitza Stark Marked gene: RAD51D as ready
Ovarian Cancer v0.24 RAD51D Zornitza Stark Gene: rad51d has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Ovarian Cancer v0.24 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Ovarian Cancer v0.24 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Ovarian Cancer v0.24 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Ovarian Cancer v0.24 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Ovarian Cancer v0.24 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Ovarian Cancer v0.24 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Ovarian Cancer v0.24 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Ovarian Cancer v0.24 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Ovarian Cancer v0.24 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Ovarian Cancer v0.24 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Ovarian Cancer v0.24 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Neuroblastoma v1.0 Zornitza Stark promoted panel to version 1.0
Neuroblastoma v0.7 Zornitza Stark Panel status changed from internal to public
Neuroblastoma v0.6 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Neuroblastoma v0.6 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Amber List (Moderate Evidence).
Neuroblastoma v0.6 PHOX2B Zornitza Stark Marked gene: PHOX2B as ready
Neuroblastoma v0.6 PHOX2B Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence).
Neuroblastoma v0.6 ALK Zornitza Stark Marked gene: ALK as ready
Neuroblastoma v0.6 ALK Zornitza Stark Gene: alk has been classified as Green List (High Evidence).
Meningioma v1.0 Zornitza Stark promoted panel to version 1.0
Meningioma v0.11 Zornitza Stark Panel status changed from internal to public
Meningioma v0.10 SUFU Zornitza Stark Marked gene: SUFU as ready
Meningioma v0.10 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Meningioma v0.10 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Meningioma v0.10 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Meningioma v0.10 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Meningioma v0.10 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Meningioma v0.10 NF2 Zornitza Stark Marked gene: NF2 as ready
Meningioma v0.10 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Meningioma v0.10 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Meningioma v0.10 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Melanoma v1.0 Zornitza Stark promoted panel to version 1.0
Melanoma v0.21 Zornitza Stark Panel status changed from internal to public
Melanoma v0.20 POT1 Zornitza Stark Marked gene: POT1 as ready
Melanoma v0.20 POT1 Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence).
Melanoma v0.20 POT1 Zornitza Stark Publications for gene: POT1 were set to PMID: 24686849, 30586141, 24686846, 38724174
Melanoma v0.19 POT1 Zornitza Stark Classified gene: POT1 as Green List (high evidence)
Melanoma v0.19 POT1 Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence).
Melanoma v0.18 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Melanoma v0.18 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Green List (High Evidence).
Melanoma v0.18 CDKN2A Zornitza Stark Phenotypes for gene: CDKN2A were changed from to Melanoma, MONDO:0005105; Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964; Melanoma-pancreatic cancer syndrome, MONDO:0011713; Melanoma and neural system tumor syndrome, MONDO:0007967; Melanoma, cutaneous malignant, 2, MIM#155601; Melanoma-pancreatic cancer syndrome, MIM#606719; Melanoma and neural system tumor syndrome, MIM#155755
Melanoma v0.17 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Melanoma v0.17 CDK4 Zornitza Stark Gene: cdk4 has been classified as Green List (High Evidence).
Melanoma v0.17 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from to Melanoma, MONDO:0005105; CDK4 linked melanoma, MONDO:0022623; Melanoma cutaneous malignant susceptibility to 3, MONDO:0012183; Melanoma, cutaneous malignant, 3, MIM#609048
Melanoma v0.16 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Melanoma v0.16 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Melanoma v0.16 BAP1 Zornitza Stark Phenotypes for gene: BAP1 were changed from to Melanoma, MONDO:0005105; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327
Medulloblastoma v1.0 Zornitza Stark promoted panel to version 1.0
Medulloblastoma v0.36 Zornitza Stark Panel status changed from internal to public
Medulloblastoma v0.35 TP53 Zornitza Stark Marked gene: TP53 as ready
Medulloblastoma v0.35 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Medulloblastoma v0.35 TP53 Zornitza Stark Phenotypes for gene: TP53 were changed from to Medulloblastoma, MONDO:0007959; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Medulloblastoma v0.34 SUFU Zornitza Stark Marked gene: SUFU as ready
Medulloblastoma v0.34 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Medulloblastoma v0.34 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from to Medulloblastoma, MONDO:0007959; Basal cell nevus syndrome 2, MONDO:0958189; Basal cell nevus syndrome 2, MIM#620343; Meningioma, familial, susceptibility to, MIM#607174; Medulloblastoma predisposition syndrome, MIM#155255
Medulloblastoma v0.33 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Medulloblastoma v0.33 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Green List (High Evidence).
Medulloblastoma v0.33 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from to Medulloblastoma, MONDO:0007959; Basal cell nevus syndrome 1, MONDO:0958174; Basal cell nevus syndrome 1, MIM#109400
Medulloblastoma v0.32 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Medulloblastoma v0.32 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Medulloblastoma v0.32 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Medulloblastoma v0.32 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Medulloblastoma v0.32 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Medulloblastoma v0.32 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Medulloblastoma v0.32 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Medulloblastoma v0.32 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Medulloblastoma v0.32 GPR161 Zornitza Stark Marked gene: GPR161 as ready
Medulloblastoma v0.32 GPR161 Zornitza Stark Gene: gpr161 has been classified as Green List (High Evidence).
Medulloblastoma v0.32 GPR161 Zornitza Stark Phenotypes for gene: GPR161 were changed from {Medulloblastoma predisposition syndrome} 155255 to Medulloblastoma, MONDO:0007959; Medulloblastoma predisposition syndrome, MIM#155255
Medulloblastoma v0.31 GPR161 Zornitza Stark Publications for gene: GPR161 were set to
Medulloblastoma v0.30 GPR161 Zornitza Stark Mode of inheritance for gene: GPR161 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.29 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Medulloblastoma v0.29 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Medulloblastoma v0.29 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Medulloblastoma v0.29 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Medulloblastoma v0.29 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from {Medulloblastoma} 155255 to Medulloblastoma, MONDO:0007959; Medulloblastoma predisposition syndrome, MIM#155255
Medulloblastoma v0.28 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Medulloblastoma v0.27 ELP1 Zornitza Stark Mode of inheritance for gene: ELP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.26 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Medulloblastoma v0.26 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Medulloblastoma v0.26 APC Zornitza Stark Marked gene: APC as ready
Medulloblastoma v0.26 APC Zornitza Stark Gene: apc has been classified as Green List (High Evidence).
Medulloblastoma v0.26 APC Zornitza Stark Phenotypes for gene: APC were changed from to Medulloblastoma, MONDO:0007959; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100
Kidney Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Kidney Cancer v0.27 Zornitza Stark Panel status changed from internal to public
Gastrointestinal Stromal Tumour v1.0 Zornitza Stark promoted panel to version 1.0
Gastrointestinal Stromal Tumour v0.17 Zornitza Stark Panel status changed from internal to public
Gastrointestinal Stromal Tumour v0.16 SDHD Zornitza Stark Marked gene: SDHD as ready
Gastrointestinal Stromal Tumour v0.16 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHC Zornitza Stark Marked gene: SDHC as ready
Gastrointestinal Stromal Tumour v0.16 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHB Zornitza Stark Marked gene: SDHB as ready
Gastrointestinal Stromal Tumour v0.16 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Gastrointestinal Stromal Tumour v0.16 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 SDHA Zornitza Stark Marked gene: SDHA as ready
Gastrointestinal Stromal Tumour v0.16 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 PDGFRA Zornitza Stark Marked gene: PDGFRA as ready
Gastrointestinal Stromal Tumour v0.16 PDGFRA Zornitza Stark Gene: pdgfra has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 NF1 Zornitza Stark Marked gene: NF1 as ready
Gastrointestinal Stromal Tumour v0.16 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Gastrointestinal Stromal Tumour v0.16 KIT Zornitza Stark Marked gene: KIT as ready
Gastrointestinal Stromal Tumour v0.16 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Endometrial Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Endometrial Cancer v0.21 Zornitza Stark Panel status changed from internal to public
Endometrial Cancer v0.20 TP53 Zornitza Stark Marked gene: TP53 as ready
Endometrial Cancer v0.20 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 PTEN Zornitza Stark Marked gene: PTEN as ready
Endometrial Cancer v0.20 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 POLE Zornitza Stark Marked gene: POLE as ready
Endometrial Cancer v0.20 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Endometrial Cancer v0.20 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Endometrial Cancer v0.20 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Endometrial Cancer v0.20 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Endometrial Cancer v0.20 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Endometrial Cancer v0.20 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Endometrial Cancer v0.20 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Endometrial Cancer v0.20 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Endometrial Cancer v0.20 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Diffuse Gastric Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Diffuse Gastric Cancer v0.5 Zornitza Stark Panel status changed from internal to public
Diffuse Gastric Cancer v0.4 CTNNA1 Zornitza Stark Marked gene: CTNNA1 as ready
Diffuse Gastric Cancer v0.4 CTNNA1 Zornitza Stark Gene: ctnna1 has been classified as Green List (High Evidence).
Diffuse Gastric Cancer v0.4 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Diffuse Gastric Cancer v0.4 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v1.0 Zornitza Stark promoted panel to version 1.0
Colorectal Cancer and Polyposis v0.41 Zornitza Stark Panel status changed from internal to public
Colorectal Cancer and Polyposis v0.40 TP53 Zornitza Stark Marked gene: TP53 as ready
Colorectal Cancer and Polyposis v0.40 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 STK11 Zornitza Stark Marked gene: STK11 as ready
Colorectal Cancer and Polyposis v0.40 STK11 Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Colorectal Cancer and Polyposis v0.40 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 RNF43 Zornitza Stark Marked gene: RNF43 as ready
Colorectal Cancer and Polyposis v0.40 RNF43 Zornitza Stark Gene: rnf43 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 PTEN Zornitza Stark Marked gene: PTEN as ready
Colorectal Cancer and Polyposis v0.40 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 POLE Zornitza Stark Marked gene: POLE as ready
Colorectal Cancer and Polyposis v0.40 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Colorectal Cancer and Polyposis v0.40 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Colorectal Cancer and Polyposis v0.40 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 NTHL1 Zornitza Stark Marked gene: NTHL1 as ready
Colorectal Cancer and Polyposis v0.40 NTHL1 Zornitza Stark Gene: nthl1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Colorectal Cancer and Polyposis v0.40 MUTYH Zornitza Stark Gene: mutyh has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Colorectal Cancer and Polyposis v0.40 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MSH3 Zornitza Stark Marked gene: MSH3 as ready
Colorectal Cancer and Polyposis v0.40 MSH3 Zornitza Stark Gene: msh3 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Colorectal Cancer and Polyposis v0.40 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Colorectal Cancer and Polyposis v0.40 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 GREM1 Zornitza Stark Marked gene: GREM1 as ready
Colorectal Cancer and Polyposis v0.40 GREM1 Zornitza Stark Gene: grem1 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.40 GREM1 Zornitza Stark Phenotypes for gene: GREM1 were changed from to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Hereditary mixed polyposis syndrome, MONDO:0011023; GREM1-associated polyposis, no MIM#
Colorectal Cancer and Polyposis v0.39 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Colorectal Cancer and Polyposis v0.39 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.39 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Colorectal Cancer and Polyposis v0.39 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.39 AXIN2 Zornitza Stark Marked gene: AXIN2 as ready
Colorectal Cancer and Polyposis v0.39 AXIN2 Zornitza Stark Gene: axin2 has been classified as Green List (High Evidence).
Colorectal Cancer and Polyposis v0.39 APC Zornitza Stark Marked gene: APC as ready
Colorectal Cancer and Polyposis v0.39 APC Zornitza Stark Gene: apc has been classified as Green List (High Evidence).
Breast Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Breast Cancer v0.27 Zornitza Stark Panel status changed from internal to public
Breast Cancer v0.26 TP53 Zornitza Stark Marked gene: TP53 as ready
Breast Cancer v0.26 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Breast Cancer v0.26 STK11 Zornitza Stark Marked gene: STK11 as ready
Breast Cancer v0.26 STK11 Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence).
Breast Cancer v0.26 RAD51D Zornitza Stark Marked gene: RAD51D as ready
Breast Cancer v0.26 RAD51D Zornitza Stark Gene: rad51d has been classified as Green List (High Evidence).
Breast Cancer v0.26 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Breast Cancer v0.26 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Breast Cancer v0.26 PTEN Zornitza Stark Marked gene: PTEN as ready
Breast Cancer v0.26 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Breast Cancer v0.26 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Breast Cancer v0.26 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Breast Cancer v0.26 NF1 Zornitza Stark Marked gene: NF1 as ready
Breast Cancer v0.26 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 CHEK2 Zornitza Stark Marked gene: CHEK2 as ready
Breast Cancer v0.26 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Breast Cancer v0.26 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Breast Cancer v0.26 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Breast Cancer v0.26 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Breast Cancer v0.26 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Breast Cancer v0.26 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 BARD1 Zornitza Stark Marked gene: BARD1 as ready
Breast Cancer v0.26 BARD1 Zornitza Stark Gene: bard1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 ATM Zornitza Stark Marked gene: ATM as ready
Breast Cancer v0.26 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Basal Cell Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Basal Cell Cancer v0.7 Zornitza Stark Panel status changed from internal to public
Basal Cell Cancer v0.6 PTCH2 Zornitza Stark Marked gene: PTCH2 as ready
Basal Cell Cancer v0.6 PTCH2 Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence).
Basal Cell Cancer v0.6 SUFU Zornitza Stark Marked gene: SUFU as ready
Basal Cell Cancer v0.6 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Basal Cell Cancer v0.6 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Basal Cell Cancer v0.6 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.148 CHD1 Boris Keren changed review comment from: Two of the 5 patients in the Pilarowski paper have macrocephaly associated with their neurodevelopmental disorder.
All the variants in the Pilarowski paper are missenses, and the assumed mechanism is a dominant negative effect, although there are now a few pathogenic/likely pathogenic LoFs in ClinVar.
Sources: Literature; to: Two of the 5 patients in the Pilarowski paper have macrocephaly associated with their neurodevelopmental disorder.
All the variants in the Pilarowski paper are missenses, and the assumed mechanism is a dominant negative effect, although there are now a few pathogenic/likely pathogenic LoFs in ClinVar.
Sources: Literature
Macrocephaly_Megalencephaly v0.148 CHD1 Boris Keren gene: CHD1 was added
gene: CHD1 was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to intellectual disability; macrocephaly
Penetrance for gene: CHD1 were set to Incomplete
Mode of pathogenicity for gene: CHD1 was set to Other
Review for gene: CHD1 was set to AMBER
gene: CHD1 was marked as current diagnostic
Added comment: Two of the 5 patients in the Pilarowski paper have macrocephaly associated with their neurodevelopmental disorder.
All the variants in the Pilarowski paper are missenses, and the assumed mechanism is a dominant negative effect, although there are now a few pathogenic/likely pathogenic LoFs in ClinVar.
Sources: Literature
Prepair 1000+ v1.390 TPM3 Andrew Coventry reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26418456 7704029 17376686 18382475 19487656 12196661 10619715; Phenotypes: Congenital myopathy 4B, autosomal recessive MIM#609284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TPI1 Andrew Coventry reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9338582 32873690 8503454; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency MIM#615512; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TNFRSF11B Andrew Coventry reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25108083 34166796 29080812 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 THOC2 Andrew Coventry reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480 32116545 29851191 32960281 34976470 37945483; Phenotypes: Intellectual developmental disorder, X-linked 12 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Kidneyome_SuperPanel v8.79 Zornitza Stark Changed child panels to: Renal Ciliopathies and Nephronophthisis; Renal Tubulopathies and related disorders; Hypertension and Aldosterone disorders; Renal Tubulointerstitial Disease; Haematuria_Alport; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic; Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN; Amyloidosis
Intellectual disability syndromic and non-syndromic v0.6465 IPO8 Zornitza Stark Marked gene: IPO8 as ready
Intellectual disability syndromic and non-syndromic v0.6465 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6465 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6465 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6464 IPO8 Zornitza Stark gene: IPO8 was added
gene: IPO8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604; 33875846; 34010605
Phenotypes for gene: IPO8 were set to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Review for gene: IPO8 was set to GREEN
Added comment: There are 35 unrelated cases with a IPO8 variant, 4/35 with mild ID, 1/35 with severe ID and 7 global developmental delay. There is a further case with severe ID, but the patient also has a 1.779Mb deletion in 19q13.4, which could be responsible for the ID (PMID: 34010605).
Sources: Literature
Mendeliome v1.2063 WFDC2 Zornitza Stark Marked gene: WFDC2 as ready
Mendeliome v1.2063 WFDC2 Zornitza Stark Gene: wfdc2 has been classified as Green List (High Evidence).
Mendeliome v1.2063 WFDC2 Zornitza Stark Classified gene: WFDC2 as Green List (high evidence)
Mendeliome v1.2063 WFDC2 Zornitza Stark Gene: wfdc2 has been classified as Green List (High Evidence).
Mendeliome v1.2062 WFDC2 Zornitza Stark gene: WFDC2 was added
gene: WFDC2 was added to Mendeliome. Sources: Literature
founder tags were added to gene: WFDC2.
Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WFDC2 were set to 38626355
Phenotypes for gene: WFDC2 were set to bronchiectasis, MONDO:0004822, WFDC2-related
Review for gene: WFDC2 was set to GREEN
Added comment: 11 individuals from 10 families reported with bi-allelic variants in this gene and bronchiectasis and nasal polyps. p.Cys49Arg is recurrent and may be a founder variant.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Marked gene: WFDC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Gene: wfdc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Tag founder tag was added to gene: WFDC2.
Severe Combined Immunodeficiency (absent T present B cells) v1.9 TP63 Zornitza Stark Marked gene: TP63 as ready
Severe Combined Immunodeficiency (absent T present B cells) v1.9 TP63 Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T present B cells) v1.9 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from lymphopaenia to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Classified gene: WFDC2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Gene: wfdc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.78 WFDC2 Zornitza Stark gene: WFDC2 was added
gene: WFDC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WFDC2 were set to 38626355
Phenotypes for gene: WFDC2 were set to bronchiectasis, MONDO:0004822, WFDC2-related
Review for gene: WFDC2 was set to GREEN
Added comment: 11 individuals from 10 families reported with bi-allelic variants in this gene and bronchiectasis and nasal polyps. p.Cys49Arg is recurrent and may be a founder variant.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6463 PRKACB Zornitza Stark Publications for gene: PRKACB were set to 33058759
Intellectual disability syndromic and non-syndromic v0.6462 PRKACB Zornitza Stark Classified gene: PRKACB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6462 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6461 PRKACB Zornitza Stark edited their review of gene: PRKACB: Added comment: Additional individual reported with ID and de novo missense variant.; Changed rating: GREEN; Changed publications: 39095811
Severe Combined Immunodeficiency (absent T present B cells) v1.8 TP63 Zornitza Stark Classified gene: TP63 as Green List (high evidence)
Severe Combined Immunodeficiency (absent T present B cells) v1.8 TP63 Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T present B cells) v1.7 TP63 Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 39364398; Phenotypes: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Classified gene: MAN2B1 as Green List (high evidence)
Syndromic Retinopathy v0.216 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.215 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B1 were set to 29859105
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500
Review for gene: MAN2B1 was set to GREEN
Added comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can rarely be the presenting feature in apparent non-syndromic retinal dystrophy
Sources: Expert list
Prepair 1000+ v1.390 CLDN10 Crystle Lee reviewed gene: CLDN10: Rating: AMBER; Mode of pathogenicity: None; Publications: 37984702, 31671507, 28674042; Phenotypes: HELIX syndrome (MIM#617671); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.282 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 to neurodevelopmental disorder MONDO:0700092, FLVCR1-related; Ataxia, posterior column, with retinitis pigmentosa, MIM#609033
Fetal anomalies v1.281 FLVCR1 Zornitza Stark Publications for gene: FLVCR1 were set to
Fetal anomalies v1.280 FLVCR1 Zornitza Stark Classified gene: FLVCR1 as Green List (high evidence)
Fetal anomalies v1.280 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Fetal anomalies v1.279 FLVCR1 Zornitza Stark edited their review of gene: FLVCR1: Added comment: PMID 39306721: A new study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.

Included here as brain, limb and digital malformations can present antenatally.; Changed rating: GREEN; Changed publications: 39306721; Changed phenotypes: neurodevelopmental disorder MONDO:0700092, FLVCR1-related, Ataxia, posterior column, with retinitis pigmentosa, MIM#609033
Prepair 1000+ v1.390 CFP Crystle Lee reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22229731, 10909851; Phenotypes: Properdin deficiency, X-linked (MIM#312060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.297 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Differences of Sex Development v0.297 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Differences of Sex Development v0.297 RNF216 Zornitza Stark Classified gene: RNF216 as Green List (high evidence)
Differences of Sex Development v0.297 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Differences of Sex Development v0.296 RNF216 Zornitza Stark gene: RNF216 was added
gene: RNF216 was added to Differences of Sex Development. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 25841028; 23656588
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Review for gene: RNF216 was set to GREEN
Added comment: Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism, which can present with amenorrhoea in females.
Sources: Expert list
Prepair 1000+ v1.390 CDH23 Crystle Lee reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 33316915; Phenotypes: Usher syndrome, type 1D (MIM#601067), Deafness, autosomal recessive 12 (MIM#601386); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.530 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Callosome v0.530 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Callosome v0.530 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Callosome v0.529 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Intellectual disability syndromic and non-syndromic v0.6461 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Intellectual disability syndromic and non-syndromic v0.6461 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6461 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from Noonan syndrome 5, MIM# 611553 to Noonan syndrome 5, MIM# 611553
Intellectual disability syndromic and non-syndromic v0.6460 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 611553
Intellectual disability syndromic and non-syndromic v0.6459 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Intellectual disability syndromic and non-syndromic v0.6458 RAF1 Zornitza Stark Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.6457 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.528 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6456 RAB18 Zornitza Stark changed review comment from: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln; to: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln
Callosome v0.527 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6456 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Intellectual disability syndromic and non-syndromic v0.6456 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6456 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Intellectual disability syndromic and non-syndromic v0.6455 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Intellectual disability syndromic and non-syndromic v0.6454 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6453 RAB18 Zornitza Stark Tag founder tag was added to gene: RAB18.
Intellectual disability syndromic and non-syndromic v0.6453 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6453 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Intellectual disability syndromic and non-syndromic v0.6453 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6453 PYCR1 Zornitza Stark Phenotypes for gene: PYCR1 were changed from to Cutis laxa, autosomal recessive, type IIB, MIM# 612940; Cutis laxa, autosomal recessive, type IIIB, MIM# 614438
Intellectual disability syndromic and non-syndromic v0.6452 PYCR1 Zornitza Stark Publications for gene: PYCR1 were set to
Intellectual disability syndromic and non-syndromic v0.6451 PYCR1 Zornitza Stark Mode of inheritance for gene: PYCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6450 PYCR1 Zornitza Stark reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19648921, 4076251, 22052856, 19576563, 19648921, 9648921, 22052856, 28294978, 27756598; Phenotypes: Cutis laxa, autosomal recessive, type IIB, MIM# 612940, Cutis laxa, autosomal recessive, type IIIB, MIM# 614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.30 PUS1 Zornitza Stark Marked gene: PUS1 as ready
IBMDx study v0.30 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
IBMDx study v0.30 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
IBMDx study v0.29 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.940 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Mitochondrial disease v0.939 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Mitochondrial disease v0.939 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.939 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Intellectual disability syndromic and non-syndromic v0.6450 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Intellectual disability syndromic and non-syndromic v0.6450 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.938 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Intellectual disability syndromic and non-syndromic v0.6450 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Intellectual disability syndromic and non-syndromic v0.6449 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Intellectual disability syndromic and non-syndromic v0.6448 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6448 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.937 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.936 PUS1 Zornitza Stark edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Intellectual disability syndromic and non-syndromic v0.6447 PUS1 Zornitza Stark edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Intellectual disability syndromic and non-syndromic v0.6447 PUS1 Zornitza Stark reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6447 PTS Zornitza Stark Marked gene: PTS as ready
Intellectual disability syndromic and non-syndromic v0.6447 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6447 PTS Zornitza Stark Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 to Hyperphenylalaninaemia, BH4-deficient, A, MIM# 261640
Intellectual disability syndromic and non-syndromic v0.6446 PTS Zornitza Stark Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Intellectual disability syndromic and non-syndromic v0.6445 PTS Zornitza Stark Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6444 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6444 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Intellectual disability syndromic and non-syndromic v0.6444 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6444 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1, MIM#163950 AD; LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)
Intellectual disability syndromic and non-syndromic v0.6443 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Intellectual disability syndromic and non-syndromic v0.6442 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.6441 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6440 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Intellectual disability syndromic and non-syndromic v0.6440 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6440 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM# 609069
Intellectual disability syndromic and non-syndromic v0.6439 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Intellectual disability syndromic and non-syndromic v0.6438 PTF1A Zornitza Stark Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6437 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21749365, 10507728, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6437 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Intellectual disability syndromic and non-syndromic v0.6437 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6437 PTDSS1 Zornitza Stark Phenotypes for gene: PTDSS1 were changed from Lenz-Majewski hyperostotic dwarfism MIM#151050 to Lenz-Majewski hyperostotic dwarfism MIM#151050
Intellectual disability syndromic and non-syndromic v0.6436 PTDSS1 Zornitza Stark Phenotypes for gene: PTDSS1 were changed from to Lenz-Majewski hyperostotic dwarfism MIM#151050
Intellectual disability syndromic and non-syndromic v0.6435 PTDSS1 Zornitza Stark Publications for gene: PTDSS1 were set to
Intellectual disability syndromic and non-syndromic v0.6434 PTDSS1 Zornitza Stark Mode of inheritance for gene: PTDSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6433 PTDSS1 Zornitza Stark commented on gene: PTDSS1: Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation.

Multiple families. Gain-of-function is the established or expected mechanism of disease for these variants.
Intellectual disability syndromic and non-syndromic v0.6433 PTDSS1 Zornitza Stark edited their review of gene: PTDSS1: Changed publications: 24241535, 29341480, 31403251
Intellectual disability syndromic and non-syndromic v0.6433 PTDSS1 Zornitza Stark reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lenz-Majewski hyperostotic dwarfism MIM#151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6433 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Intellectual disability syndromic and non-syndromic v0.6433 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6433 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from to Holoprosencephaly 7, MIM# 610828
Intellectual disability syndromic and non-syndromic v0.6432 PTCH1 Zornitza Stark Mode of inheritance for gene: PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6431 PTCH1 Zornitza Stark Mode of inheritance for gene: PTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6430 PTCH1 Zornitza Stark reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 7, MIM# 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2061 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7, MIM# 610828 to Holoprosencephaly 7, MIM# 610828; Bladder exstrophy and epispadias complex (BEEC)
Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Marked gene: KBTBD2 as ready
Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Gene: kbtbd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Classified gene: KBTBD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6430 KBTBD2 Zornitza Stark Gene: kbtbd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6429 KBTBD2 Zornitza Stark gene: KBTBD2 was added
gene: KBTBD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related
Review for gene: KBTBD2 was set to GREEN
Added comment: 3 families - 2 compound hets and 1 hom

phenotypes include:
Microcephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6428 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Intellectual disability syndromic and non-syndromic v0.6428 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6428 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279
Intellectual disability syndromic and non-syndromic v0.6427 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to 16439621; 17551924; 18042262; 20301365
Intellectual disability syndromic and non-syndromic v0.6426 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to
Intellectual disability syndromic and non-syndromic v0.6425 MAP2K1 Zornitza Stark Mode of pathogenicity for gene: MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.6424 MAP2K1 Zornitza Stark Mode of inheritance for gene: MAP2K1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6423 MAP2K1 Zornitza Stark Mode of inheritance for gene: MAP2K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6422 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Intellectual disability syndromic and non-syndromic v0.6422 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6422 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279
Intellectual disability syndromic and non-syndromic v0.6421 MAP2K2 Zornitza Stark Mode of pathogenicity for gene: MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.6420 MAP2K2 Zornitza Stark Publications for gene: MAP2K2 were set to
Intellectual disability syndromic and non-syndromic v0.6419 MAP2K2 Zornitza Stark Mode of inheritance for gene: MAP2K2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6418 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Intellectual disability syndromic and non-syndromic v0.6418 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6418 MAT1A Zornitza Stark Phenotypes for gene: MAT1A were changed from to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
Intellectual disability syndromic and non-syndromic v0.6417 MAT1A Zornitza Stark Publications for gene: MAT1A were set to
Intellectual disability syndromic and non-syndromic v0.6416 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6415 MBOAT7 Zornitza Stark Marked gene: MBOAT7 as ready
Intellectual disability syndromic and non-syndromic v0.6415 MBOAT7 Zornitza Stark Gene: mboat7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6415 MBOAT7 Zornitza Stark Phenotypes for gene: MBOAT7 were changed from to Intellectual disability MIM#617188
Intellectual disability syndromic and non-syndromic v0.6414 MBOAT7 Zornitza Stark Publications for gene: MBOAT7 were set to
Intellectual disability syndromic and non-syndromic v0.6413 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6412 MKKS Zornitza Stark Marked gene: MKKS as ready
Intellectual disability syndromic and non-syndromic v0.6412 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6412 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to McKusick-Kaufman syndrome, MIM# 236700; Bardet-Biedl syndrome 6, MIM# 605231; Retinitis pigmentosa
Intellectual disability syndromic and non-syndromic v0.6411 MKKS Zornitza Stark Publications for gene: MKKS were set to
Intellectual disability syndromic and non-syndromic v0.6410 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6409 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Intellectual disability syndromic and non-syndromic v0.6409 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6409 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Intellectual disability syndromic and non-syndromic v0.6408 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Intellectual disability syndromic and non-syndromic v0.6407 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6406 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Intellectual disability syndromic and non-syndromic v0.6406 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6406 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)
Intellectual disability syndromic and non-syndromic v0.6405 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Intellectual disability syndromic and non-syndromic v0.6404 MLC1 Zornitza Stark Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6403 MMAA Zornitza Stark Marked gene: MMAA as ready
Intellectual disability syndromic and non-syndromic v0.6403 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6403 MMAA Zornitza Stark Phenotypes for gene: MMAA were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100
Intellectual disability syndromic and non-syndromic v0.6402 MMAA Zornitza Stark Publications for gene: MMAA were set to
Intellectual disability syndromic and non-syndromic v0.6401 MMAA Zornitza Stark Mode of inheritance for gene: MMAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6400 MMAB Zornitza Stark Marked gene: MMAB as ready
Intellectual disability syndromic and non-syndromic v0.6400 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6400 MMAB Zornitza Stark Phenotypes for gene: MMAB were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110
Intellectual disability syndromic and non-syndromic v0.6399 MMAB Zornitza Stark Publications for gene: MMAB were set to
Intellectual disability syndromic and non-syndromic v0.6398 MMAB Zornitza Stark Mode of inheritance for gene: MMAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6397 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Intellectual disability syndromic and non-syndromic v0.6397 MMADHC Zornitza Stark Gene: mmadhc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6397 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism
Intellectual disability syndromic and non-syndromic v0.6396 MMADHC Zornitza Stark Publications for gene: MMADHC were set to
Intellectual disability syndromic and non-syndromic v0.6395 MMADHC Zornitza Stark Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6394 MUT Zornitza Stark Marked gene: MUT as ready
Intellectual disability syndromic and non-syndromic v0.6394 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6394 MUT Zornitza Stark Phenotypes for gene: MUT were changed from to Methylmalonic aciduria, mut(0) type, MIM# 251000
Intellectual disability syndromic and non-syndromic v0.6393 MUT Zornitza Stark Publications for gene: MUT were set to
Intellectual disability syndromic and non-syndromic v0.6392 MUT Zornitza Stark Mode of inheritance for gene: MUT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6391 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Intellectual disability syndromic and non-syndromic v0.6391 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6391 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism
Intellectual disability syndromic and non-syndromic v0.6390 MOCS2 Zornitza Stark Publications for gene: MOCS2 were set to
Intellectual disability syndromic and non-syndromic v0.6389 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.288 BMP5 Zornitza Stark Marked gene: BMP5 as ready
Skeletal dysplasia v0.288 BMP5 Zornitza Stark Gene: bmp5 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.288 BMP5 Zornitza Stark Phenotypes for gene: BMP5 were changed from Skeletal dysostosis and atrioventricular septal defect to Skeletal dysplasia, MONDO:0018230, BMP5-related; Skeletal dysostosis and atrioventricular septal defect
Skeletal dysplasia v0.287 BMP5 Zornitza Stark reviewed gene: BMP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, BMP5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2060 BMP5 Zornitza Stark Marked gene: BMP5 as ready
Mendeliome v1.2060 BMP5 Zornitza Stark Gene: bmp5 has been classified as Red List (Low Evidence).
Mendeliome v1.2060 BMP5 Zornitza Stark Phenotypes for gene: BMP5 were changed from Skeletal dysostosis and atrioventricular septal defect, no OMIM# to Skeletal dysplasia, MONDO:0018230, BMP5-related; Skeletal dysostosis and atrioventricular septal defect, no OMIM#
Mendeliome v1.2059 BMP5 Zornitza Stark Publications for gene: BMP5 were set to
Combined Immunodeficiency v1.75 RELB Zornitza Stark Publications for gene: RELB were set to 7834753; 26385063
Mendeliome v1.2058 RELB Zornitza Stark Publications for gene: RELB were set to 7834753; 26385063
Regression v0.565 POLR3K Zornitza Stark changed review comment from: PMID 30584594: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.; to: https://doi.org/10.1155/2024/8807171: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.
Regression v0.565 POLR3K Zornitza Stark Publications for gene: POLR3K were set to 30584594; 33659930
Regression v0.564 POLR3K Zornitza Stark Classified gene: POLR3K as Green List (high evidence)
Regression v0.564 POLR3K Zornitza Stark Gene: polr3k has been classified as Green List (High Evidence).
Regression v0.563 POLR3K Zornitza Stark Classified gene: POLR3K as Green List (high evidence)
Regression v0.563 POLR3K Zornitza Stark Gene: polr3k has been classified as Green List (High Evidence).
Regression v0.562 POLR3K Zornitza Stark edited their review of gene: POLR3K: Added comment: PMID 30584594: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.; Changed rating: GREEN; Changed publications: 30584594, 33659930, 30584594
IBMDx study v0.28 KLF1 Zornitza Stark Marked gene: KLF1 as ready
IBMDx study v0.28 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
IBMDx study v0.28 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
IBMDx study v0.27 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
IBMDx study v0.26 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.25 KLF1 Zornitza Stark edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.279 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV MIM#613673 to Dyserythropoietic anaemia, congenital, type IV MIM#613673; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Fetal anomalies v1.278 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 28361594; 25724378
Fetal anomalies v1.277 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.276 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24443441, 25724378, 28361594, 34554218; Phenotypes: Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v1.29 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Red cell disorders v1.28 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881
Red cell disorders v1.27 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v1.26 KLF1 Zornitza Stark edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2057 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Mendeliome v1.2056 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881
Mendeliome v1.2055 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2054 KLF1 Zornitza Stark edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.324 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Hydrops fetalis v0.323 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 29300242; 25724378; 28265383
Hydrops fetalis v0.322 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hydrops fetalis v0.321 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24443441, 25724378, 28361594, 34554218; Phenotypes: Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.101 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Bone Marrow Failure v1.100 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881
Bone Marrow Failure v1.99 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.98 KLF1 Zornitza Stark edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BBS10 Lilian Downie Marked gene: BBS10 as ready
Prepair 1000+ v1.390 BBS10 Lilian Downie Gene: bbs10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.390 BBS10 Lilian Downie Publications for gene: BBS10 were set to
Prepair 1000+ v1.389 BSCL2 Lilian Downie Marked gene: BSCL2 as ready
Prepair 1000+ v1.389 BSCL2 Lilian Downie Gene: bscl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.389 BSCL2 Lilian Downie Phenotypes for gene: BSCL2 were changed from Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) to Encephalopathy, progressive, with or without lipodystrophy (MIM#615924); Lipodystrophy, congenital generalized, type 2 (MIM#269700)
Prepair 1000+ v1.388 BSCL2 Lilian Downie Publications for gene: BSCL2 were set to
Prepair 1000+ v1.387 C5 Lilian Downie Marked gene: C5 as ready
Prepair 1000+ v1.387 C5 Lilian Downie Gene: c5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.387 C5 Lilian Downie Publications for gene: C5 were set to
Prepair 1000+ v1.386 CARS2 Lilian Downie Marked gene: CARS2 as ready
Prepair 1000+ v1.386 CARS2 Lilian Downie Gene: cars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.386 CARS2 Lilian Downie Publications for gene: CARS2 were set to
Prepair 1000+ v1.385 SGPL1 Lilian Downie Marked gene: SGPL1 as ready
Prepair 1000+ v1.385 SGPL1 Lilian Downie Gene: sgpl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.385 SGPL1 Lilian Downie Publications for gene: SGPL1 were set to
Prepair 1000+ v1.384 SGPL1 Lilian Downie reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36050428, 30517686, 35748945; Phenotypes: RENI syndrome MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Marked gene: TSPYL1 as ready
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Added comment: Comment when marking as ready: Originally reported only in Amish community, founder variant
subsequently reported in 3 unrelated families, non amish - GREEN AT UPGRADE
2 cohort studies looking for variants in this gene in SIDS cohorts but it's very rare and presents with more of a progressive neurological phenotype in the non Amish families
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Gene: tspyl1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Publications for gene: TSPYL1 were set to
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Marked gene: SLC38A8 as ready
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Gene: slc38a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Publications for gene: SLC38A8 were set to
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Marked gene: NDUFS8 as ready
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Gene: ndufs8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Phenotypes for gene: NDUFS8 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)
Prepair 1000+ v1.381 NDUFS8 Lilian Downie Publications for gene: NDUFS8 were set to
Prepair 1000+ v1.380 NGF Lilian Downie Marked gene: NGF as ready
Prepair 1000+ v1.380 NGF Lilian Downie Gene: ngf has been classified as Green List (High Evidence).
Prepair 1000+ v1.380 NGF Lilian Downie Publications for gene: NGF were set to
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Marked gene: NECTIN1 as ready
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Gene: nectin1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Publications for gene: NECTIN1 were set to
Prepair 1000+ v1.378 FGA Lilian Downie Marked gene: FGA as ready
Prepair 1000+ v1.378 FGA Lilian Downie Gene: fga has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGB Lilian Downie Marked gene: FGB as ready
Prepair 1000+ v1.378 FGB Lilian Downie Gene: fgb has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGG Lilian Downie Marked gene: FGG as ready
Prepair 1000+ v1.378 FGG Lilian Downie Gene: fgg has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGG Lilian Downie Publications for gene: FGG were set to
Prepair 1000+ v1.377 GNPTAB Lilian Downie Marked gene: GNPTAB as ready
Prepair 1000+ v1.377 GNPTAB Lilian Downie Gene: gnptab has been classified as Green List (High Evidence).
Prepair 1000+ v1.377 GNPTAB Lilian Downie Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta, 252600 (3) to Mucolipidosis III alpha/beta MIM#252600; Mucolipidosis II alpha/beta MIM#252500
Prepair 1000+ v1.376 GNPTAB Lilian Downie Publications for gene: GNPTAB were set to
Prepair 1000+ v1.375 GSS Lilian Downie Marked gene: GSS as ready
Prepair 1000+ v1.375 GSS Lilian Downie Gene: gss has been classified as Green List (High Evidence).
Prepair 1000+ v1.375 HADHB Lilian Downie Marked gene: HADHB as ready
Prepair 1000+ v1.375 HADHB Lilian Downie Gene: hadhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.375 HADHB Lilian Downie Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 (3) to Mitochondrial trifunctional protein deficiency 2 MIM#620300
Prepair 1000+ v1.374 HLCS Lilian Downie Marked gene: HLCS as ready
Prepair 1000+ v1.374 HLCS Lilian Downie Gene: hlcs has been classified as Green List (High Evidence).
Prepair 1000+ v1.374 HLCS Lilian Downie Publications for gene: HLCS were set to
Prepair 1000+ v1.373 HPS5 Lilian Downie Marked gene: HPS5 as ready
Prepair 1000+ v1.373 HPS5 Lilian Downie Gene: hps5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.373 KCTD7 Lilian Downie Marked gene: KCTD7 as ready
Prepair 1000+ v1.373 KCTD7 Lilian Downie Gene: kctd7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.373 KCTD7 Lilian Downie Publications for gene: KCTD7 were set to
Prepair 1000+ v1.372 LARS Lilian Downie Marked gene: LARS as ready
Prepair 1000+ v1.372 LARS Lilian Downie Gene: lars has been classified as Green List (High Evidence).
Prepair 1000+ v1.372 LARS Lilian Downie Publications for gene: LARS were set to
Prepair 1000+ v1.371 PNKP Lilian Downie Marked gene: PNKP as ready
Prepair 1000+ v1.371 PNKP Lilian Downie Gene: pnkp has been classified as Green List (High Evidence).
Prepair 1000+ v1.371 PNKP Lilian Downie Added comment: Comment on phenotypes: CMT phenotype is usually onset in 30's but childhood onset has been reported.
Prepair 1000+ v1.371 PNKP Lilian Downie Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, 613402 (3) to Charcot-Marie-Tooth disease, type 2B2 MIM#605589; Ataxia-oculomotor apraxia 4 MIM#616267; Microcephaly, seizures, and developmental delay MIM#613402
Prepair 1000+ v1.370 PNKP Lilian Downie Publications for gene: PNKP were set to
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Marked gene: CYP27A1 as ready
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Added comment: Comment when marking as ready: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. (OMIM)
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Gene: cyp27a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Publications for gene: CYP27A1 were set to
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Marked gene: CYP7B1 as ready
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Gene: cyp7b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3, 613812 (3) to Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, 270800 (3)
Prepair 1000+ v1.367 CYP7B1 Lilian Downie Publications for gene: CYP7B1 were set to
Prepair 1000+ v1.366 OCRL Lilian Downie Marked gene: OCRL as ready
Prepair 1000+ v1.366 OCRL Lilian Downie Gene: ocrl has been classified as Green List (High Evidence).
Prepair 1000+ v1.366 OCRL Lilian Downie Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 (3) to Dent disease 2 MIM#300555; Lowe syndrome MIM#309000
Prepair 1000+ v1.365 OCRL Lilian Downie Publications for gene: OCRL were set to
Prepair 1000+ v1.364 PKHD1 Lilian Downie Marked gene: PKHD1 as ready
Prepair 1000+ v1.364 PKHD1 Lilian Downie Gene: pkhd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.364 PKHD1 Lilian Downie Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 (3) to Polycystic kidney disease 4, with or without hepatic disease MIM#263200
Prepair 1000+ v1.363 PKHD1 Lilian Downie Publications for gene: PKHD1 were set to
Prepair 1000+ v1.362 DHCR7 Lilian Downie Marked gene: DHCR7 as ready
Prepair 1000+ v1.362 DHCR7 Lilian Downie Gene: dhcr7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.362 DHCR7 Lilian Downie Publications for gene: DHCR7 were set to
Prepair 1000+ v1.361 ALPL Lilian Downie Marked gene: ALPL as ready
Prepair 1000+ v1.361 ALPL Lilian Downie Gene: alpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.361 ALPL Lilian Downie Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500 (3) to Hypophosphatasia, childhood (MIM#241510); Hypophosphatasia, infantile (MIM#241500)
Prepair 1000+ v1.360 ALPL Lilian Downie Publications for gene: ALPL were set to
Intellectual disability syndromic and non-syndromic v0.6388 ATAD2B Zornitza Stark Marked gene: ATAD2B as ready
Intellectual disability syndromic and non-syndromic v0.6388 ATAD2B Zornitza Stark Gene: atad2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6388 ATAD2B Zornitza Stark Classified gene: ATAD2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6388 ATAD2B Zornitza Stark Gene: atad2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6387 POLR3K Bryony Thompson Classified gene: POLR3K as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6387 POLR3K Bryony Thompson Gene: polr3k has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6386 POLR3K Bryony Thompson gene: POLR3K was added
gene: POLR3K was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to https://doi.org/10.1155/2024/8807171; 30584594
Phenotypes for gene: POLR3K were set to POLR3-related leukodystrophy MONDO:0700282
Review for gene: POLR3K was set to GREEN
Added comment: 3 apparently unrelated cases (1 compound het & 2 homozygous for the same missense & supporting functional assays) with phenotypes consistent with POLR3-related leukodystrophy which includes ID and DD as part of the phenotype.
Sources: Literature
Leukodystrophy - paediatric v0.313 POLR3K Bryony Thompson Publications for gene: POLR3K were set to 30584594; 33659930
Leukodystrophy - paediatric v0.312 POLR3K Bryony Thompson Phenotypes for gene: POLR3K were changed from Hypomyelinating leukodystrophy-21, MIM#619310 to POLR3-related leukodystrophy MONDO:0700282
Leukodystrophy - paediatric v0.311 POLR3K Bryony Thompson Classified gene: POLR3K as Green List (high evidence)
Leukodystrophy - paediatric v0.311 POLR3K Bryony Thompson Gene: polr3k has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.310 POLR3K Bryony Thompson reviewed gene: POLR3K: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1155/2024/8807171, 30584594; Phenotypes: POLR3-related leukodystrophy MONDO:0700282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2054 POLR3K Bryony Thompson Phenotypes for gene: POLR3K were changed from Hypomyelinating leukodystrophy-21, MIM#619310 to POLR3-related leukodystrophy MONDO:0700282
Mendeliome v1.2053 POLR3K Bryony Thompson Publications for gene: POLR3K were set to 30584594; 33659930
Mendeliome v1.2052 POLR3K Bryony Thompson Classified gene: POLR3K as Green List (high evidence)
Mendeliome v1.2052 POLR3K Bryony Thompson Gene: polr3k has been classified as Green List (High Evidence).
Mendeliome v1.2051 POLR3K Bryony Thompson reviewed gene: POLR3K: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1155/2024/8807171, 30584594; Phenotypes: POLR3-related leukodystrophy MONDO:0700282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2051 RELB Chirag Patel Classified gene: RELB as Green List (high evidence)
Mendeliome v1.2051 RELB Chirag Patel Gene: relb has been classified as Green List (High Evidence).
Mendeliome v1.2050 RELB Chirag Patel reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: T-cell and B cell immunodeficiency, Immunodeficiency 53, OMIM #617585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.74 RELB Chirag Patel Classified gene: RELB as Green List (high evidence)
Combined Immunodeficiency v1.74 RELB Chirag Patel Gene: relb has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.73 RELB Chirag Patel reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: T-cell and B cell immunodeficiency, Immunodeficiency 53, OMIM #617585,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2049 BMP5 Chirag Patel edited their review of gene: BMP5: Changed publications: PMID: 39239663
Mendeliome v1.2048 BMP5 Chirag Patel gene: BMP5 was added
gene: BMP5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BMP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP5 were set to Skeletal dysostosis and atrioventricular septal defect, no OMIM#
Phenotypes for gene: BMP5 were set to Skeletal dysostosis and atrioventricular septal defect, no OMIM#
Review for gene: BMP5 was set to RED
Added comment: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders.
Sources: Literature
Skeletal dysplasia v0.287 BMP5 Chirag Patel changed review comment from: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders.
Sources: Literature; to: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders.
Sources: Literature
Skeletal dysplasia v0.287 BMP5 Chirag Patel gene: BMP5 was added
gene: BMP5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: BMP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP5 were set to PMID: 39239663
Phenotypes for gene: BMP5 were set to Skeletal dysostosis and atrioventricular septal defect
Review for gene: BMP5 was set to RED
Added comment: 1 patient with skeletal dysostosis, atrioventricular septal defect, hypermobility, laryngo-tracheo-bronchomalacia and dysmorphic features (malar hypoplasia, short palpebral fissures, short nose, low nasal bridge, anteverted nares, long philtrum, small ears with abnormally folded antihelix). Skeletal survey showed mild thoracolumbar scoliosis, four sacral segments, absent ossification of the inferior pubic rami, and patellar aplasia. Trio WGS identified compound heterozygous loss of function variants in BMP5 (c.88_89del, p.(Gly30Argfs*11) and c.1104+2del, p.(?). Abnormal splicing was proven on the suspected splice variant using maternal fibroblasts. BMP5 expression is confined to specific parts of the skeleton and cartilage in mice and is tightly regulated by different enhancers. Previous studies of chicken embryonic heart development showed BMP5 expression in the endoderm underlying the precardiac mesoderm, the myocardium of the atrioventricular canal and outflow tract regions. Other bone morphogenetic proteins are linked to several genetic skeletal disorders.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6385 GFAP Bryony Thompson Marked gene: GFAP as ready
Intellectual disability syndromic and non-syndromic v0.6385 GFAP Bryony Thompson Gene: gfap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6385 GFAP Bryony Thompson Phenotypes for gene: GFAP were changed from to Alexander disease MONDO:0008752
Intellectual disability syndromic and non-syndromic v0.6384 GFAP Bryony Thompson Publications for gene: GFAP were set to
Intellectual disability syndromic and non-syndromic v0.6383 GFAP Bryony Thompson Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6382 GFAP Bryony Thompson reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301351; Phenotypes: Alexander disease MONDO:0008752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.75 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 39306721
Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: Literature
Optic Atrophy v1.42 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Optic Atrophy v1.42 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.42 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Optic Atrophy v1.42 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.41 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 39306721
Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Review for gene: FLVCR1 was set to GREEN
Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: Literature
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.62 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 39306721
Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6382 ATAD2B Zornitza Stark gene: ATAD2B was added
gene: ATAD2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATAD2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD2B were set to 39313616
Phenotypes for gene: ATAD2B were set to neurodevelopmental disorder MONDO:0700092, ATAD2B-related
Review for gene: ATAD2B was set to AMBER
Added comment: 3 families including 2 siblings
1 fam is hom for a highly conserved missense

Amber because of the lack of specific phenotypes:
Abnormality of the nervous system and Abnormality of the eye
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6381 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Intellectual disability syndromic and non-syndromic v0.6381 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6381 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5 MIM#611719
Intellectual disability syndromic and non-syndromic v0.6380 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Intellectual disability syndromic and non-syndromic v0.6379 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6378 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Intellectual disability syndromic and non-syndromic v0.6378 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6378 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Intellectual disability syndromic and non-syndromic v0.6377 MTFMT Zornitza Stark Publications for gene: MTFMT were set to 21907147; 23499752; 24461907; 22499348
Intellectual disability syndromic and non-syndromic v0.6376 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Intellectual disability syndromic and non-syndromic v0.6375 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6374 MVK Zornitza Stark Marked gene: MVK as ready
Intellectual disability syndromic and non-syndromic v0.6374 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6374 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)
Intellectual disability syndromic and non-syndromic v0.6374 MVK Zornitza Stark Publications for gene: MVK were set to 29047407; 26409462
Intellectual disability syndromic and non-syndromic v0.6373 MVK Zornitza Stark Publications for gene: MVK were set to 29047407; 26409462
Intellectual disability syndromic and non-syndromic v0.6373 MVK Zornitza Stark Publications for gene: MVK were set to
Intellectual disability syndromic and non-syndromic v0.6373 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6372 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6371 MYO5A Zornitza Stark Marked gene: MYO5A as ready
Intellectual disability syndromic and non-syndromic v0.6371 MYO5A Zornitza Stark Gene: myo5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6371 MYO5A Zornitza Stark Phenotypes for gene: MYO5A were changed from to Griscelli syndrome, type 1 MIM#214450
Intellectual disability syndromic and non-syndromic v0.6370 MYO5A Zornitza Stark Publications for gene: MYO5A were set to
Intellectual disability syndromic and non-syndromic v0.6369 MYO5A Zornitza Stark Mode of inheritance for gene: MYO5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6368 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Intellectual disability syndromic and non-syndromic v0.6368 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6368 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport
Intellectual disability syndromic and non-syndromic v0.6367 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Intellectual disability syndromic and non-syndromic v0.6366 MTHFR Zornitza Stark Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6365 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Intellectual disability syndromic and non-syndromic v0.6365 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6365 NPC2 Zornitza Stark Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2, MIM# 607625; MONDO:0011873
Intellectual disability syndromic and non-syndromic v0.6364 NPC2 Zornitza Stark Publications for gene: NPC2 were set to 11125141; 17470133
Intellectual disability syndromic and non-syndromic v0.6363 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Intellectual disability syndromic and non-syndromic v0.6362 NPC2 Zornitza Stark Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6361 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Intellectual disability syndromic and non-syndromic v0.6361 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6361 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1 and type D, MIM# 257220; MONDO:0009757
Intellectual disability syndromic and non-syndromic v0.6360 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Intellectual disability syndromic and non-syndromic v0.6359 NPC1 Zornitza Stark Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6358 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Intellectual disability syndromic and non-syndromic v0.6358 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6358 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Intellectual disability syndromic and non-syndromic v0.6357 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Intellectual disability syndromic and non-syndromic v0.6356 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969; 23911641; 11854319; 24714694
Intellectual disability syndromic and non-syndromic v0.6355 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Intellectual disability syndromic and non-syndromic v0.6354 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6353 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Intellectual disability syndromic and non-syndromic v0.6353 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6353 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation (OMIM 615273)
Intellectual disability syndromic and non-syndromic v0.6352 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694, 32259258; Phenotypes: Congenital disorder of deglycosylation (OMIM 615273); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6352 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Intellectual disability syndromic and non-syndromic v0.6351 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6350 NFIX Zornitza Stark Marked gene: NFIX as ready
Intellectual disability syndromic and non-syndromic v0.6350 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6350 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535
Intellectual disability syndromic and non-syndromic v0.6349 NFIX Zornitza Stark Publications for gene: NFIX were set to 33034087; 29897170; 30548146; 25118028
Intellectual disability syndromic and non-syndromic v0.6348 NFIX Zornitza Stark Publications for gene: NFIX were set to
Intellectual disability syndromic and non-syndromic v0.6347 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6346 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Intellectual disability syndromic and non-syndromic v0.6346 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6346 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738
Intellectual disability syndromic and non-syndromic v0.6345 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Intellectual disability syndromic and non-syndromic v0.6344 NEU1 Zornitza Stark Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6343 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Intellectual disability syndromic and non-syndromic v0.6343 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6343 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Intellectual disability syndromic and non-syndromic v0.6342 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Intellectual disability syndromic and non-syndromic v0.6341 NDUFV1 Zornitza Stark Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6340 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Intellectual disability syndromic and non-syndromic v0.6340 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6340 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224)
Intellectual disability syndromic and non-syndromic v0.6339 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Intellectual disability syndromic and non-syndromic v0.6338 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6337 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Intellectual disability syndromic and non-syndromic v0.6337 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6337 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Intellectual disability syndromic and non-syndromic v0.6336 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Intellectual disability syndromic and non-syndromic v0.6335 NDUFA1 Zornitza Stark Publications for gene: NDUFA1 were set to
Intellectual disability syndromic and non-syndromic v0.6334 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.6333 NALCN Zornitza Stark Marked gene: NALCN as ready
Intellectual disability syndromic and non-syndromic v0.6333 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6333 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from to Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, MIM # 615419
Intellectual disability syndromic and non-syndromic v0.6332 NALCN Zornitza Stark Publications for gene: NALCN were set to
Intellectual disability syndromic and non-syndromic v0.6331 NALCN Zornitza Stark Mode of inheritance for gene: NALCN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6330 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Intellectual disability syndromic and non-syndromic v0.6330 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6330 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Intellectual disability syndromic and non-syndromic v0.6329 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Intellectual disability syndromic and non-syndromic v0.6328 NAGLU Zornitza Stark Mode of inheritance for gene: NAGLU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6327 NAGA Zornitza Stark Marked gene: NAGA as ready
Intellectual disability syndromic and non-syndromic v0.6327 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6327 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Intellectual disability syndromic and non-syndromic v0.6327 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Intellectual disability syndromic and non-syndromic v0.6326 NAGA Zornitza Stark Publications for gene: NAGA were set to
Intellectual disability syndromic and non-syndromic v0.6325 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6324 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Intellectual disability syndromic and non-syndromic v0.6324 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6324 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Intellectual disability syndromic and non-syndromic v0.6323 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Intellectual disability syndromic and non-syndromic v0.6322 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6321 SKI Zornitza Stark Marked gene: SKI as ready
Intellectual disability syndromic and non-syndromic v0.6321 SKI Zornitza Stark Gene: ski has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6321 SKI Zornitza Stark Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212; Neurodevelopmental disorder, MONDO:0700092, SKI-related
Intellectual disability syndromic and non-syndromic v0.6320 SKI Zornitza Stark Publications for gene: SKI were set to
Intellectual disability syndromic and non-syndromic v0.6319 SKI Zornitza Stark Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6318 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SKI-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6318 SHH Zornitza Stark Marked gene: SHH as ready
Intellectual disability syndromic and non-syndromic v0.6318 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6318 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Holoprosencephaly 3 (MIM#142945)
Intellectual disability syndromic and non-syndromic v0.6317 SHH Zornitza Stark Publications for gene: SHH were set to
Intellectual disability syndromic and non-syndromic v0.6316 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2047 IL7 Zornitza Stark Marked gene: IL7 as ready
Mendeliome v1.2047 IL7 Zornitza Stark Gene: il7 has been classified as Green List (High Evidence).
Mendeliome v1.2047 IL7 Zornitza Stark Classified gene: IL7 as Green List (high evidence)
Mendeliome v1.2047 IL7 Zornitza Stark Gene: il7 has been classified as Green List (High Evidence).
Mendeliome v1.2046 IL7 Zornitza Stark gene: IL7 was added
gene: IL7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL7 were set to 39352394
Phenotypes for gene: IL7 were set to Combined immunodeficiency, MONDO:0015131, IL7-related
Review for gene: IL7 was set to GREEN
Added comment: 6 indviduals from 4 kindreds with combined immune deficiency and recurrent infections. Extensive immunophenotyping revealing IL7 dependent and independent development of T cells.
Sources: Literature
Combined Immunodeficiency v1.73 IL7 Zornitza Stark Marked gene: IL7 as ready
Combined Immunodeficiency v1.73 IL7 Zornitza Stark Gene: il7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.73 IL7 Zornitza Stark Phenotypes for gene: IL7 were changed from Combined Immune deficiency to Combined immunodeficiency, MONDO:0015131, IL7-related
Combined Immunodeficiency v1.72 IL7 Zornitza Stark Classified gene: IL7 as Green List (high evidence)
Combined Immunodeficiency v1.72 IL7 Zornitza Stark Gene: il7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.71 IL7 Zornitza Stark reviewed gene: IL7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined immunodeficiency, MONDO:0015131, IL7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Marked gene: LRRC7 as ready
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Classified gene: LRRC7 as Green List (high evidence)
Severe early-onset obesity v1.12 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.11 LRRC7 Zornitza Stark gene: LRRC7 was added
gene: LRRC7 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC7 were set to 39256359
Phenotypes for gene: LRRC7 were set to neurodevelopmental disorder (MONDO:0700092), LRRC7-related
Review for gene: LRRC7 was set to GREEN
Added comment: Over 30 individuals reported with a neurodevelopmental disorder and variants in this gene. Hyperphagia and early-onset obesity is a common feature.
Sources: Literature
Mendeliome v1.2045 LRRC7 Zornitza Stark Marked gene: LRRC7 as ready
Mendeliome v1.2045 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Microcephaly v1.286 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Microcephaly v1.286 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Mendeliome v1.2045 LRRC7 Zornitza Stark Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092) to neurodevelopmental disorder (MONDO:0700092), LRRC7-related
Mendeliome v1.2044 LRRC7 Zornitza Stark Classified gene: LRRC7 as Green List (high evidence)
Mendeliome v1.2044 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Mendeliome v1.2043 LRRC7 Zornitza Stark reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder (MONDO:0700092), LRRC7-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6315 LRRC7 Zornitza Stark Marked gene: LRRC7 as ready
Intellectual disability syndromic and non-syndromic v0.6315 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6315 LRRC7 Zornitza Stark Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092) to neurodevelopmental disorder (MONDO:0700092), LRRC7-related
Intellectual disability syndromic and non-syndromic v0.6314 LRRC7 Zornitza Stark reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39256359; Phenotypes: neurodevelopmental disorder (MONDO:0700092), LRRC7-related; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.6314 LRRC7 Zornitza Stark Classified gene: LRRC7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6314 LRRC7 Zornitza Stark Gene: lrrc7 has been classified as Green List (High Evidence).
Fetal anomalies v1.276 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Fetal anomalies v1.276 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Fetal anomalies v1.276 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Fetal anomalies v1.276 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Fetal anomalies v1.275 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL26 were set to 22431104; 39268718
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, MIM# 614900
Review for gene: RPL26 was set to GREEN
Added comment: Four unrelated families reported, radial ray defects are part of the phenotype.
Sources: Literature
Radial Ray Abnormalities v1.13 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11, MIM# 614900 to Diamond-Blackfan anaemia 11, MIM# 614900
Radial Ray Abnormalities v1.12 RPL26 Zornitza Stark Publications for gene: RPL26 were set to 22431104
Radial Ray Abnormalities v1.11 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Radial Ray Abnormalities v1.11 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Mendeliome v1.2043 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11, MIM# 614900 to Diamond-Blackfan anaemia 11, MIM# 614900
Mendeliome v1.2042 RPL26 Zornitza Stark Publications for gene: RPL26 were set to 22431104
Mendeliome v1.2041 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Mendeliome v1.2041 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.8 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Diamond Blackfan anaemia v1.8 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.98 RPL26 Zornitza Stark Publications for gene: RPL26 were set to 22431104
Bone Marrow Failure v1.97 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Bone Marrow Failure v1.97 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.96 RPL26 Zornitza Stark edited their review of gene: RPL26: Added comment: PMID 39268718: Additional reported cases with multiple congenital anomalies - predominantly radial ray defects Article reports five individuals from one family with an intronic variant (c.-6+3_-6+25del). The variant was shown to segregate with AD pattern across 3 generations in similarly affected individuals. Reported two other unrelated individuals with de novo variants (p.Met30Cysfs*9 and c.-5-2A>G).; Changed rating: GREEN; Changed publications: 22431104, 39268718; Changed phenotypes: Diamond-Blackfan anemia 11, MIM# 614900
Red cell disorders v1.26 RPL26 Zornitza Stark Publications for gene: RPL26 were set to 22431104
Red cell disorders v1.25 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Red cell disorders v1.25 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Mendeliome v1.2040 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177 to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Microcephaly v1.286 FLVCR1 Zornitza Stark Marked gene: FLVCR1 as ready
Microcephaly v1.286 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Classified gene: SECISBP2 as Green List (high evidence)
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.60 SECISBP2 Zornitza Stark gene: SECISBP2 was added
gene: SECISBP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 39315526
Phenotypes for gene: SECISBP2 were set to Thyroid hormone metabolism, abnormal, 1, MIM# 609698
Review for gene: SECISBP2 was set to GREEN
Added comment: Four individuals reported with bi-allelic variants and ID/seizures/autism phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6313 SECISBP2 Zornitza Stark Phenotypes for gene: SECISBP2 were changed from #609698 THYROID HORMONE METABOLISM, ABNORMAL to Thyroid hormone metabolism, abnormal, 1, MIM# 609698
Microcephaly v1.286 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Microcephaly v1.286 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6312 SECISBP2 Zornitza Stark Publications for gene: SECISBP2 were set to 16228000; 19602558; 21084748; 22247018
Intellectual disability syndromic and non-syndromic v0.6311 SECISBP2 Zornitza Stark Classified gene: SECISBP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6311 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Microcephaly v1.285 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 39306721
Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6310 SECISBP2 Zornitza Stark reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39315526; Phenotypes: Thyroid hormone metabolism, abnormal, 1, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6310 FLVCR1 Bryony Thompson Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Intellectual disability syndromic and non-syndromic v0.6309 FLVCR1 Bryony Thompson Publications for gene: FLVCR1 were set to
Mendeliome v1.2039 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650; Microphthalmia/coloboma, MIM# 13 620968
Mendeliome v1.2038 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to 30898087; 30666249; 28741180; 25288157; 24511403; 21721379; 21535335
Intellectual disability syndromic and non-syndromic v0.6308 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6308 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Mendeliome v1.2037 NHEJ1 Zornitza Stark changed review comment from: PMID 37580330: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.; to: PMID 37580330: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1 -- RED for this association.
Intellectual disability syndromic and non-syndromic v0.6307 FLVCR1 Bryony Thompson reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: neurodevelopmental disorder MONDO:0700092, FLVCR1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.2037 NHEJ1 Zornitza Stark edited their review of gene: NHEJ1: Added comment: PMID 37580330: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.; Changed publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335, 37580330; Changed phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650, Microphthalmia/coloboma, MIM# 13 620968
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
deep intronic tags were added to gene: NHEJ1.
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHEJ1 were set to 37580330
Phenotypes for gene: NHEJ1 were set to Microphthalmia/coloboma, MIM# 13 620968
Review for gene: NHEJ1 was set to RED
Added comment: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.
Sources: Literature
Prepair 1000+ v1.359 NECTIN1 Lauren Rogers reviewed gene: NECTIN1: Rating: ; Mode of pathogenicity: None; Publications: 25913853, 10932188, 26953873; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 NGF Lauren Rogers reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V (MIM#608654); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2037 FLVCR1 Bryony Thompson edited their review of gene: FLVCR1: Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.; Changed publications: 21070897, 22279524, 21267618, 39306721; Changed phenotypes: posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177, neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Red cell disorders v1.24 RPL26 Sangavi Sivagnanasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v1.7 RPL26 Sangavi Sivagnanasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.359 NDUFS8 Lauren Rogers reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23430795, 36101822; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v1.10 RPL26 Sangavi Sivagnanasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2037 RPL26 Sangavi Sivagnanasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.359 SLC38A8 Lauren Rogers reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290379, 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 TSPYL1 Lauren Rogers reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 32885560, 33075815, 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6307 LRRC7 Sangavi Sivagnanasundram gene: LRRC7 was added
gene: LRRC7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC7 were set to 39256359
Phenotypes for gene: LRRC7 were set to neurodevelopmental disorder (MONDO:0700092)
Review for gene: LRRC7 was set to GREEN
Added comment: Well established gene-disease association.
Neurodevelopmental disorder with a clinical spectrum - symptoms include ID, ADHD, aggression and in many cases, hyperphagia associate obesity.
Heterozygous missense and LoF variants have been reported and functional assays were conducted on missense and truncating variants that support LoF mechanism of disease.
Sources: Literature
Mendeliome v1.2037 LRRC7 Sangavi Sivagnanasundram gene: LRRC7 was added
gene: LRRC7 was added to Mendeliome. Sources: Other,Literature
Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC7 were set to 39256359
Phenotypes for gene: LRRC7 were set to neurodevelopmental disorder (MONDO:0700092)
Review for gene: LRRC7 was set to GREEN
Added comment: Well established gene-disease association.
Neurodevelopmental disorder with a clinical spectrum - symptoms include ID, ADHD, aggression and in many cases, hyperphagia associate obesity.
Heterozygous missense and LoF variants have been reported and functional assays were conducted on missense and truncating variants that support LoF mechanism of disease.
Sources: Other, Literature
Combined Immunodeficiency v1.71 IL7 Peter McNaughton gene: IL7 was added
gene: IL7 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL7 were set to PMID: 39352394
Phenotypes for gene: IL7 were set to Combined Immune deficiency
Review for gene: IL7 was set to GREEN
Added comment: 6 patients from 4 kindreds with combined immune deficiency and recurrent infections. Extensive immunophenotyping revealing IL7 dependent and independent development of T cells.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6307 SHH Chirag Patel reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22791840, 19057928; Phenotypes: Holoprosencephaly 3 (MIM#142945); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6307 SKI Chirag Patel reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23023332, 23103230, 24736733, 30071989; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6307 SCO2 Chirag Patel reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10545952, 10749987, 18924171; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v1.97 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340
Arthrogryposis v0.414 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340
Brain Calcification v1.97 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340
Arthrogryposis v0.414 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340
Brain Calcification v1.97 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340
Arthrogryposis v0.414 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM# 304340 to Pettigrew syndrome, MIM# 304340
Prepair 500+ v1.4 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 (3) to Pettigrew syndrome, MIM# 304340
Ataxia - paediatric v1.28 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340
Prepair 1000+ v1.359 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 (3) to Pettigrew syndrome, MIM# 304340
Cerebellar and Pontocerebellar Hypoplasia v1.71 GMPPB Ain Roesley Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Lissencephaly and Band Heterotopia v1.20 GMPPB Ain Roesley Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Intellectual disability syndromic and non-syndromic v0.6307 NAGA Chirag Patel reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6307 NAGLU Chirag Patel reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v1.20 GMPPB Ain Roesley Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Cerebellar and Pontocerebellar Hypoplasia v1.71 GMPPB Ain Roesley Phenotypes for gene: GMPPB were changed from 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 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Congenital Disorders of Glycosylation v1.47 GMPPB Ain Roesley Phenotypes for gene: GMPPB were changed from 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 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Intellectual disability syndromic and non-syndromic v0.6307 NALCN Chirag Patel reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25683120, 30167850, 23749988, 24075186; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, MIM # 615419; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2037 GMPPB Ain Roesley Phenotypes for gene: GMPPB were changed from 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 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Lissencephaly and Band Heterotopia v1.20 GMPPB Ain Roesley Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Congenital Disorders of Glycosylation v1.46 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.46 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.46 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Fetal anomalies v1.274 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Autonomic neuropathy v0.51 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Mendeliome v1.2036 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome, MIM# 615510 to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Polydactyly v0.277 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Skeletal dysplasia v0.286 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from intellectual disability, X-linked 99 MONDO:0010487 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Polydactyly v0.277 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Fetal anomalies v1.273 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Intellectual disability syndromic and non-syndromic v0.6307 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Prepair 1000+ v1.358 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Intellectual developmental disorder, X-linked 99, MIM#300919 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Prepair 500+ v1.3 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, 300919 (3) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Choanal atresia v1.6 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968; MONDO:0010502 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Clefting disorders v0.257 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Mendeliome v1.2035 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Severe Combined Immunodeficiency (absent T present B cells) v1.7 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from severe combined immunodeficiency 104 MIM#608971 to severe combined immunodeficiency 104 MIM#608971
Severe Combined Immunodeficiency (absent T present B cells) v1.7 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins to severe combined immunodeficiency 104 MIM#608971
Combined Immunodeficiency v1.71 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers. to severe combined immunodeficiency 104 MIM#608971
Prepair 500+ v1.2 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) to severe combined immunodeficiency 104 MIM#608971
Prepair 1000+ v1.357 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) to severe combined immunodeficiency 104 MIM#608971
Mendeliome v1.2034 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers. to severe combined immunodeficiency 104 MIM#608971
Intellectual disability syndromic and non-syndromic v0.6306 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Proteinuria v0.228 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from RENI syndrome (MIM#617575) to RENI syndrome (MIM#617575)
Combined Immunodeficiency v1.70 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Hydrops fetalis v0.321 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Combined Immunodeficiency v1.70 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Proteinuria v0.228 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to RENI syndrome (MIM#617575)
Intellectual disability syndromic and non-syndromic v0.6305 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Intellectual disability syndromic and non-syndromic v0.6304 NDUFA1 Chirag Patel reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29506883, 19185523, 17262856, 21596602; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.321 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Hereditary Neuropathy - complex v1.17 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14 (MIM#617575) to RENI syndrome (MIM#617575)
Deafness_IsolatedAndComplex v1.199 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to RENI syndrome (MIM#617575)
Prepair 1000+ v1.356 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome 14, 617575 (3), Autosomal recessive to RENI syndrome (MIM#617575)
Fetal anomalies v1.272 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)
Differences of Sex Development v0.295 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14 (MIM#617575) to RENI syndrome (MIM#617575)
Mendeliome v1.2033 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from to RENI syndrome (MIM#617575)
Intellectual disability syndromic and non-syndromic v0.6304 NDUFS7 Chirag Patel reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6304 NDUFS8 Chirag Patel reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23430795, 9837812, 15159508, 22499348, 20818383, 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6304 NDUFV1 Chirag Patel reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6304 NEU1 Chirag Patel reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6304 NFIX Chirag Patel reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753), Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6304 NGLY1 Chirag Patel reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: Congenital disorder of deglycosylation (OMIM 615273); Phenotypes: PMID: 24651605, 27388694, 32259258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6304 NKX2-1 Chirag Patel reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10931427, 27066577, 26839702, 26103969, 23911641, 11854319, 24714694; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v1.14 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355
Macrocephaly_Megalencephaly v0.148 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355
Early-onset Parkinson disease v2.10 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355 to Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355
Overgrowth v1.13 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM# 616355 to Houge-Janssens syndrome 1, MIM#616355
Early-onset Parkinson disease v2.10 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355 to Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355
Intellectual disability syndromic and non-syndromic v0.6304 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355
Macrocephaly_Megalencephaly v0.147 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM# 616355 to Houge-Janssens syndrome 1, MIM#616355
Fetal anomalies v1.271 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355
Intellectual disability syndromic and non-syndromic v0.6303 NPC1 Chirag Patel reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9211849, 11333381; Phenotypes: Niemann-Pick disease, type C1 and type D, MIM# 257220, MONDO:0009757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2032 PPP2R5D Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355
Intellectual disability syndromic and non-syndromic v0.6303 NPC2 Chirag Patel reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11125141, 17470133; Phenotypes: Niemann-pick disease, type C2, MIM# 607625, MONDO:0011873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MTHFR Chirag Patel commented on gene: MTHFR: Well-established gene-disease association (see OMIM entry). Homocystinuria due to MTHFR deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of folate metabolism. DD/ID can be seen in condition.
Intellectual disability syndromic and non-syndromic v0.6303 MTHFR Chirag Patel reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27604308, 7920641; Phenotypes: Homocystinuria due to MTHFR deficiency MIM#236250, Disorders of folate metabolism and transport; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MYO5A Chirag Patel reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32275080, 22711375, 25283056; Phenotypes: Griscelli syndrome, type 1 MIM#214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 RAB27A Chirag Patel reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.6303 MVK Chirag Patel reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29047407, 26409462; Phenotypes: Hyper-IgD syndrome (MIM#260920), Mevalonic aciduria (MIM#610377); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MTFMT Chirag Patel reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MRPS22 Chirag Patel reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29566152,17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5 MIM#611719, Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2031 ATAD2B Ain Roesley Marked gene: ATAD2B as ready
Mendeliome v1.2031 ATAD2B Ain Roesley Gene: atad2b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2031 ATAD2B Ain Roesley Classified gene: ATAD2B as Amber List (moderate evidence)
Mendeliome v1.2031 ATAD2B Ain Roesley Gene: atad2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6303 MOCS2 Chirag Patel reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27604308, 10053004; Phenotypes: Molybdenum cofactor deficiency B MIM#252160, Disorders of molybdenum cofactor metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2030 ATAD2B Ain Roesley gene: ATAD2B was added
gene: ATAD2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATAD2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD2B were set to 39313616
Phenotypes for gene: ATAD2B were set to neurodevelopmental disorder MONDO:0700092, ATAD2B-related
Review for gene: ATAD2B was set to AMBER
gene: ATAD2B was marked as current diagnostic
Added comment: 3 families including 2 siblings
1 fam is hom for a highly conserved missense

Amber because of the lack of specific phenotypes:
Abnormality of the nervous system and Abnormality of the eye
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6303 MUT Chirag Patel reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116, 1977311, 11528502, 12948746; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MMADHC Chirag Patel reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116,27604308, 18385497; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MMAB Chirag Patel reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MMAA Chirag Patel reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2029 ZDHHC16 Ain Roesley Classified gene: ZDHHC16 as Amber List (moderate evidence)
Mendeliome v1.2029 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6303 MLC1 Chirag Patel reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MKS1 Chirag Patel reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MKKS Chirag Patel reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10973251, 10802661, 26900326; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700, Bardet-Biedl syndrome 6, MIM# 605231, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MBOAT7 Chirag Patel reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: Intellectual disability MIM#617188; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MAT1A Chirag Patel reviewed gene: MAT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27604308, 7560086; Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850, Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850, Disorders of the metabolism of sulphur amino acids; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6303 MAP2K2 Chirag Patel reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20358587, 16439621, 18042262; Phenotypes: Cardiofaciocutaneous syndrome 3, MIM# 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.6303 MAP2K1 Chirag Patel reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 16439621, 17551924, 18042262, 20301365; Phenotypes: Cardiofaciocutaneous syndrome 3, MIM# 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v1.40 ZDHHC16 Ain Roesley Classified gene: ZDHHC16 as Amber List (moderate evidence)
Optic Atrophy v1.40 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6303 ZDHHC16 Ain Roesley Classified gene: ZDHHC16 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6303 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.39 ZDHHC16 Ain Roesley Marked gene: ZDHHC16 as ready
Optic Atrophy v1.39 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6303 ZDHHC16 Ain Roesley Marked gene: ZDHHC16 as ready
Intellectual disability syndromic and non-syndromic v0.6303 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.39 ZDHHC16 Ain Roesley Classified gene: ZDHHC16 as Amber List (moderate evidence)
Optic Atrophy v1.39 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6303 ZDHHC16 Ain Roesley Classified gene: ZDHHC16 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.6303 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Regression v0.562 ZDHHC16 Ain Roesley Marked gene: ZDHHC16 as ready
Regression v0.562 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Regression v0.562 ZDHHC16 Ain Roesley Classified gene: ZDHHC16 as Amber List (moderate evidence)
Regression v0.562 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6302 ZDHHC16 Ain Roesley gene: ZDHHC16 was added
gene: ZDHHC16 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZDHHC16 were set to 39313616
Phenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related
Review for gene: ZDHHC16 was set to AMBER
gene: ZDHHC16 was marked as current diagnostic
Added comment: 6 families including a pair of siblings

Amber because 5 of the families had non specific phenotypes listed
Abnormality of:
the nervous system, metabolism/homeostasis, head/neck, immune system, the integument, the digestive system, the respiratory system, the endocrine system, Growth abnormality the skeletal system, the musculature, the eye

Specific HPOs were provided for one individual (homoyzygous for a canonical splice)

Abnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia
Sources: Literature
Optic Atrophy v1.38 ZDHHC16 Ain Roesley gene: ZDHHC16 was added
gene: ZDHHC16 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZDHHC16 were set to 39313616
Phenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related
Review for gene: ZDHHC16 was set to AMBER
gene: ZDHHC16 was marked as current diagnostic
Added comment: 6 families including a pair of siblings

Amber because 5 of the families had non specific phenotypes listed
Abnormality of:
the nervous system, metabolism/homeostasis, head/neck, immune system, the integument, the digestive system, the respiratory system, the endocrine system, Growth abnormality the skeletal system, the musculature, the eye

Specific HPOs were provided for one individual (homoyzygous for a canonical splice)

Abnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia
Sources: Literature
Regression v0.561 ZDHHC16 Ain Roesley gene: ZDHHC16 was added
gene: ZDHHC16 was added to Regression. Sources: Literature
Mode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZDHHC16 were set to 39313616
Phenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related
Review for gene: ZDHHC16 was set to AMBER
gene: ZDHHC16 was marked as current diagnostic
Added comment: 6 families including a pair of siblings

Amber because 5 of the families had non specific phenotypes listed
Abnormality of:
the nervous system, metabolism/homeostasis, head/neck, immune system, the integument, the digestive system, the respiratory system, the endocrine system, Growth abnormality the skeletal system, the musculature, the eye

Specific HPOs were provided for one individual (homoyzygous for a canonical splice)

Abnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia
Sources: Literature
Mendeliome v1.2028 ZDHHC16 Ain Roesley Marked gene: ZDHHC16 as ready
Mendeliome v1.2028 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Red List (Low Evidence).
Mendeliome v1.2028 ZDHHC16 Ain Roesley gene: ZDHHC16 was added
gene: ZDHHC16 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZDHHC16 were set to 39313616
Phenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related
Review for gene: ZDHHC16 was set to AMBER
gene: ZDHHC16 was marked as current diagnostic
Added comment: 6 families including a pair of siblings

Amber because 5 of the families had non specific phenotypes listed
Abnormality of:
the nervous system, metabolism/homeostasis, head/neck, immune system, the integument, the digestive system, the respiratory system, the endocrine system, Growth abnormality the skeletal system, the musculature, the eye

Specific HPOs were provided for one individual (homoyzygous for a canonical splice)

Abnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia
Sources: Literature
Microcephaly v1.284 KBTBD2 Ain Roesley Marked gene: KBTBD2 as ready
Fetal anomalies v1.270 KBTBD2 Ain Roesley Marked gene: KBTBD2 as ready
Fetal anomalies v1.270 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Microcephaly v1.284 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Microcephaly v1.284 KBTBD2 Ain Roesley Classified gene: KBTBD2 as Green List (high evidence)
Microcephaly v1.284 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Fetal anomalies v1.270 KBTBD2 Ain Roesley Classified gene: KBTBD2 as Green List (high evidence)
Fetal anomalies v1.270 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Mendeliome v1.2027 KBTBD2 Ain Roesley Marked gene: KBTBD2 as ready
Mendeliome v1.2027 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Mendeliome v1.2027 KBTBD2 Ain Roesley Classified gene: KBTBD2 as Green List (high evidence)
Mendeliome v1.2027 KBTBD2 Ain Roesley Gene: kbtbd2 has been classified as Green List (High Evidence).
Mendeliome v1.2026 KBTBD2 Ain Roesley gene: KBTBD2 was added
gene: KBTBD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related
Review for gene: KBTBD2 was set to GREEN
gene: KBTBD2 was marked as current diagnostic
Added comment: 3 families - 2 compound hets and 1 hom

phenotypes include:
Microcephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism
Sources: Literature
Microcephaly v1.283 KBTBD2 Ain Roesley gene: KBTBD2 was added
gene: KBTBD2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related
Review for gene: KBTBD2 was set to GREEN
gene: KBTBD2 was marked as current diagnostic
Added comment: 3 families - 2 compound hets and 1 hom

phenotypes include:
Microcephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism
Sources: Literature
Fetal anomalies v1.269 KBTBD2 Ain Roesley gene: KBTBD2 was added
gene: KBTBD2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to neurodevelopmental disorder MONDO:0700092, KBTBD2-related
Review for gene: KBTBD2 was set to GREEN
gene: KBTBD2 was marked as current diagnostic
Added comment: 3 families - 2 compound hets and 1 hom

phenotypes include:
Microcephaly, hypotonia, failure to thrive, IUGR, delayed gross motor development, dysmorphism
Sources: Literature
Clefting disorders v0.256 CRELD1 Ain Roesley Marked gene: CRELD1 as ready
Clefting disorders v0.256 CRELD1 Ain Roesley Gene: creld1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.256 CRELD1 Ain Roesley Classified gene: CRELD1 as Amber List (moderate evidence)
Clefting disorders v0.256 CRELD1 Ain Roesley Gene: creld1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.255 CRELD1 Ain Roesley gene: CRELD1 was added
gene: CRELD1 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRELD1 were set to 37947183
Phenotypes for gene: CRELD1 were set to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Review for gene: CRELD1 was set to AMBER
gene: CRELD1 was marked as current diagnostic
Added comment: 2 families with cleft palate, intra-familial variability noted
Sources: Literature
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Marked gene: EPB41L3 as ready
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Classified gene: EPB41L3 as Green List (high evidence)
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.57 EPB41L3 Bryony Thompson gene: EPB41L3 was added
gene: EPB41L3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB41L3 were set to 39292993
Phenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063
Review for gene: EPB41L3 was set to GREEN
Added comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6301 EPB41L3 Bryony Thompson Marked gene: EPB41L3 as ready
Intellectual disability syndromic and non-syndromic v0.6301 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6301 EPB41L3 Bryony Thompson Classified gene: EPB41L3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.6301 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6300 EPB41L3 Bryony Thompson gene: EPB41L3 was added
gene: EPB41L3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB41L3 were set to 39292993
Phenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063
Review for gene: EPB41L3 was set to GREEN
Added comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function.
Sources: Literature
Mendeliome v1.2025 EPB41L3 Bryony Thompson Marked gene: EPB41L3 as ready
Mendeliome v1.2025 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Mendeliome v1.2025 EPB41L3 Bryony Thompson Classified gene: EPB41L3 as Green List (high evidence)
Mendeliome v1.2025 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Mendeliome v1.2024 EPB41L3 Bryony Thompson gene: EPB41L3 was added
gene: EPB41L3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB41L3 were set to 39292993
Phenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063
Review for gene: EPB41L3 was set to GREEN
Added comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.6299 GCH1 Bryony Thompson Marked gene: GCH1 as ready
Intellectual disability syndromic and non-syndromic v0.6299 GCH1 Bryony Thompson Gene: gch1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6299 GCH1 Bryony Thompson Phenotypes for gene: GCH1 were changed from to GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186
Intellectual disability syndromic and non-syndromic v0.6298 GCH1 Bryony Thompson Publications for gene: GCH1 were set to 22473768; 7869202
Intellectual disability syndromic and non-syndromic v0.6297 GCH1 Bryony Thompson Publications for gene: GCH1 were set to
Intellectual disability syndromic and non-syndromic v0.6296 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6295 GCH1 Bryony Thompson reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22473768, 7869202; Phenotypes: GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Aminoacidopathy v1.133 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6295 GAMT Bryony Thompson Marked gene: GAMT as ready
Intellectual disability syndromic and non-syndromic v0.6295 GAMT Bryony Thompson Gene: gamt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6295 GAMT Bryony Thompson Phenotypes for gene: GAMT were changed from to guanidinoacetate methyltransferase deficiency MONDO:0012999
Intellectual disability syndromic and non-syndromic v0.6294 GAMT Bryony Thompson Publications for gene: GAMT were set to
Intellectual disability syndromic and non-syndromic v0.6293 GAMT Bryony Thompson Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6292 GAMT Bryony Thompson reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301745; Phenotypes: guanidinoacetate methyltransferase deficiency MONDO:0012999; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6292 GALE Bryony Thompson Marked gene: GALE as ready
Intellectual disability syndromic and non-syndromic v0.6292 GALE Bryony Thompson Gene: gale has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6292 GALE Bryony Thompson Phenotypes for gene: GALE were changed from to galactose epimerase deficiency MONDO:0009257
Intellectual disability syndromic and non-syndromic v0.6291 GALE Bryony Thompson Publications for gene: GALE were set to
Intellectual disability syndromic and non-syndromic v0.6290 GALE Bryony Thompson Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6289 GALE Bryony Thompson reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21290786; Phenotypes: galactose epimerase deficiency MONDO:0009257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.6289 GALC Bryony Thompson Marked gene: GALC as ready
Intellectual disability syndromic and non-syndromic v0.6289 GALC Bryony Thompson Gene: galc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6289 GALC Bryony Thompson Phenotypes for gene: GALC were changed from to Krabbe disease MONDO:000949
Intellectual disability syndromic and non-syndromic v0.6288 GALC Bryony Thompson Publications for gene: GALC were set to
Intellectual disability syndromic and non-syndromic v0.6287 GALC Bryony Thompson Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6286 GALC Bryony Thompson reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301416; Phenotypes: Krabbe disease MONDO:000949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dystonia - complex v0.240 GABRB2 Bryony Thompson Marked gene: GABRB2 as ready
Dystonia - complex v0.240 GABRB2 Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence).
Dystonia - complex v0.240 GABRB2 Bryony Thompson Classified gene: GABRB2 as Green List (high evidence)
Dystonia - complex v0.240 GABRB2 Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence).
Dystonia - complex v0.239 GABRB2 Bryony Thompson gene: GABRB2 was added
gene: GABRB2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB2 were set to 38996765
Phenotypes for gene: GABRB2 were set to epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631
Mode of pathogenicity for gene: GABRB2 was set to Other
Review for gene: GABRB2 was set to GREEN
gene: GABRB2 was marked as current diagnostic
Added comment: At least 7 cases reported with dystonia as a feature of phenotype associated with gain-of-function variants.
Sources: Literature
Microcephaly v1.282 GABRB2 Bryony Thompson Marked gene: GABRB2 as ready
Microcephaly v1.282 GABRB2 Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence).
Microcephaly v1.282 GABRB2 Bryony Thompson Classified gene: GABRB2 as Green List (high evidence)
Microcephaly v1.282 GABRB2 Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.355 CARS2 Crystle Lee reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139652, 34704010; Phenotypes: Combined oxidative phosphorylation deficiency 27 (MIM#616672); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 C5 Crystle Lee reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 23371790; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2023 PSKH1 Zornitza Stark Marked gene: PSKH1 as ready
Mendeliome v1.2023 PSKH1 Zornitza Stark Gene: pskh1 has been classified as Green List (High Evidence).
Mendeliome v1.2023 PSKH1 Zornitza Stark Classified gene: PSKH1 as Green List (high evidence)
Mendeliome v1.2023 PSKH1 Zornitza Stark Gene: pskh1 has been classified as Green List (High Evidence).
Mendeliome v1.2022 PSKH1 Zornitza Stark gene: PSKH1 was added
gene: PSKH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSKH1 were set to 39132680
Phenotypes for gene: PSKH1 were set to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962
Review for gene: PSKH1 was set to GREEN
Added comment: 4 consanguineous families (out of 279 families) with intrahepatic cholestasis:
-1 patient died at 10mths with cholestasis/liver impairment and kidney impairment
-3 cousins with cholestasis (2 with liver failure needing transplant) and kidney features (2 with kidney failure, 1 with renal echogenicity)
-2 siblings with hepatic fibrosis (1 with unilateral renal agenesis)
-2 siblings with unexplained liver cirrhosis (1 needing transplant) but normal kidney function

WES identified 3 different homozygous variants in PSKH1 (Arg121Trp, Ile126Val, Arg183Cys). Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. The phenotype could be rationalized by the loss of catalytic activity observed for each recombinant PSKH1 variant using in vitro kinase assays. Human PSKH1 is a poorly understood gene that may play important role in intracellular trafficking, is sensitive to intracellular Ca2+ concentration, and is localized to centrosomes, suggesting a link to cystogenesis.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v1.26 PSKH1 Zornitza Stark Marked gene: PSKH1 as ready
Renal Ciliopathies and Nephronophthisis v1.26 PSKH1 Zornitza Stark Gene: pskh1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.26 PSKH1 Zornitza Stark Phenotypes for gene: PSKH1 were changed from Hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962
Ciliopathies v1.62 PSKH1 Zornitza Stark Marked gene: PSKH1 as ready
Ciliopathies v1.62 PSKH1 Zornitza Stark Gene: pskh1 has been classified as Green List (High Evidence).
Ciliopathies v1.62 PSKH1 Zornitza Stark Phenotypes for gene: PSKH1 were changed from Hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962
Cholestasis v0.245 PSKH1 Zornitza Stark Marked gene: PSKH1 as ready
Cholestasis v0.245 PSKH1 Zornitza Stark Gene: pskh1 has been classified as Green List (High Evidence).
Cholestasis v0.245 PSKH1 Zornitza Stark Phenotypes for gene: PSKH1 were changed from Hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962
Cholestasis v0.244 PSKH1 Zornitza Stark reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic, 13, MIM# 620962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 BSCL2 Crystle Lee reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23564749, 23659685, 26815532; Phenotypes: Encephalopathy, progressive, with or without lipodystrophy (MIM#615924), Lipodystrophy, congenital generalized, type 2 (MIM#269700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal