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Mendeliome v1.303 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mendeliome v1.302 COX11 Zornitza Stark gene: COX11 was added
gene: COX11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551
Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related
Review for gene: COX11 was set to GREEN
Added comment: PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: Literature
Mendeliome v1.301 SARS Zornitza Stark Publications for gene: SARS were set to 28236339; 34570399; 35790048
Mendeliome v1.300 TMEM147 Zornitza Stark Marked gene: TMEM147 as ready
Mendeliome v1.300 TMEM147 Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence).
Mendeliome v1.300 TMEM147 Zornitza Stark Classified gene: TMEM147 as Green List (high evidence)
Mendeliome v1.300 TMEM147 Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence).
Mendeliome v1.299 SAT1 Zornitza Stark Phenotypes for gene: SAT1 were changed from to Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Keratosis follicularis spinulosa decalvans
Mendeliome v1.298 SAT1 Zornitza Stark Publications for gene: SAT1 were set to
Mendeliome v1.297 SAT1 Zornitza Stark Mode of inheritance for gene: SAT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.296 SAT1 Zornitza Stark Classified gene: SAT1 as Amber List (moderate evidence)
Mendeliome v1.296 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.295 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related
Mendeliome v1.294 CEP104 Zornitza Stark Publications for gene: CEP104 were set to 26477546
Mendeliome v1.293 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Diamond-Blackfan anemia (MONDO:0015253)
Mendeliome v1.292 GATA1 Zornitza Stark Publications for gene: GATA1 were set to
Mendeliome v1.291 GATA1 Zornitza Stark edited their review of gene: GATA1: Added comment: PMID 36029112: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype.; Changed publications: 36029112; Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835, Diamond-Blackfan anemia (MONDO:0015253)
Mendeliome v1.291 LGI3 Zornitza Stark Marked gene: LGI3 as ready
Mendeliome v1.291 LGI3 Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence).
Mendeliome v1.291 LGI3 Zornitza Stark Phenotypes for gene: LGI3 were changed from Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi to Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi
Mendeliome v1.290 LGI3 Zornitza Stark Classified gene: LGI3 as Green List (high evidence)
Mendeliome v1.290 LGI3 Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence).
Mendeliome v1.289 LGI3 Zornitza Stark reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.289 TMEM147 Naomi Baker gene: TMEM147 was added
gene: TMEM147 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM147 were set to PMID: 36044892
Phenotypes for gene: TMEM147 were set to Neurodevelopmental disorder (MONDO:0700092), TMEM147-related
Review for gene: TMEM147 was set to GREEN
Added comment: PMID: 36044892; Twelve different variants reported in 23 affected individuals from 15 unrelated families with biallelic variants. All individuals had global developmental delay and intellectual disability. Consistent facial dysmorphisms included coarse facies, prominent forehead, board depressed nasal root, tented mouth, long smooth philtrum, and low-set ears. In vitro studies of missense variants demonstrated accelerated protein degradation via the autophagy-lysosomal pathway, while analysis of primary fibroblasts and granulocytes provided functional evidence of ER and nuclear envelope dysfunction.
Sources: Literature
Mendeliome v1.289 SARS Ee Ming Wong reviewed gene: SARS: Rating: RED; Mode of pathogenicity: Other; Publications: 36041817; Phenotypes: neurodevelopmental disorder, MONDO#070009, SARS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.289 ADAMTS15 Zornitza Stark Marked gene: ADAMTS15 as ready
Mendeliome v1.289 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Mendeliome v1.289 ADAMTS15 Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence)
Mendeliome v1.289 ADAMTS15 Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence).
Mendeliome v1.288 CAPRIN1 Zornitza Stark Marked gene: CAPRIN1 as ready
Mendeliome v1.288 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Mendeliome v1.288 CAPRIN1 Zornitza Stark Classified gene: CAPRIN1 as Green List (high evidence)
Mendeliome v1.288 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence).
Mendeliome v1.287 CBLB Alison Yeung Marked gene: CBLB as ready
Mendeliome v1.287 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Mendeliome v1.287 CBLB Alison Yeung Classified gene: CBLB as Green List (high evidence)
Mendeliome v1.287 CBLB Alison Yeung Gene: cblb has been classified as Green List (High Evidence).
Mendeliome v1.286 CBLB Alison Yeung gene: CBLB was added
gene: CBLB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBLB were set to 36006710
Phenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179
Review for gene: CBLB was set to GREEN
Added comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking.
Sources: Literature
Mendeliome v1.285 TYMS Lucy Spencer gene: TYMS was added
gene: TYMS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TYMS was set to Other
Publications for gene: TYMS were set to 35931051
Phenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780
Review for gene: TYMS was set to RED
Added comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant.

The other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance.

The TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children.

Immunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls.

Lymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1.
Sources: Literature
Mendeliome v1.285 CEP104 Belinda Chong reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 34196201, 35359234; Phenotypes: CEP104 Neurodevelopmental disorder, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.285 LGI3 Melanie Marty edited their review of gene: LGI3: Changed phenotypes: Global developmental delay, Intellectual disability, Distal deformities, Diminished reflexes, Facial myokymia, Hyporeflexia/areflexia
Mendeliome v1.285 HNRNPH1 Hazel Phillimore changed review comment from: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2).
In gnomAD, there are very few LOF variants. (LOF shows pLI = 1).
The group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma.; to: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2.
In gnomAD, there are very few LOF variants. (LOF shows pLI = 1).
The group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma.
Mendeliome v1.285 HNRNPH1 Hazel Phillimore reviewed gene: HNRNPH1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35989590; Phenotypes: early onset high myopia, blindness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.285 TMEM163 Teresa Zhao changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures and two have ID.
Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures.
Sources: Literature
Mendeliome v1.285 MET Zornitza Stark Phenotypes for gene: MET were changed from Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 to Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884
Mendeliome v1.284 MET Zornitza Stark Publications for gene: MET were set to
Mendeliome v1.283 MET Zornitza Stark changed review comment from: PMID 30777867:
Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; to: PMID 30777867:
Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.

AMBER for this association
Mendeliome v1.283 MET Zornitza Stark edited their review of gene: MET: Added comment: PMID 30777867:
Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; Changed publications: 30777867
Mendeliome v1.283 TMEM163 Teresa Zhao gene: TMEM163 was added
gene: TMEM163 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM163 were set to PMID: 35953447
Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy
Review for gene: TMEM163 was set to GREEN
Added comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures and two have ID.
Sources: Literature
Mendeliome v1.283 LGI3 Melanie Marty gene: LGI3 was added
gene: LGI3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to PMID: 35948005
Phenotypes for gene: LGI3 were set to Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi
Review for gene: LGI3 was set to GREEN
Added comment: Sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3.
Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons.
Sources: Literature
Mendeliome v1.283 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from Adams-Oliver syndrome 5 (MIM#616028) to Adams-Oliver syndrome 5 (MIM#616028); Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mendeliome v1.282 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to 25963545; 25132448
Mendeliome v1.281 NOTCH1 Zornitza Stark Mode of pathogenicity for gene: NOTCH1 was changed from to Other
Mendeliome v1.280 BUD13 Alison Yeung Marked gene: BUD13 as ready
Mendeliome v1.280 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.280 BUD13 Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence)
Mendeliome v1.280 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.279 BUD13 Alison Yeung gene: BUD13 was added
gene: BUD13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BUD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUD13 were set to 35670808
Phenotypes for gene: BUD13 were set to Lipodystrophy, MONDO:0006573
Review for gene: BUD13 was set to AMBER
Added comment: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. Individuals from only two Algerian families.
Sources: Literature
Mendeliome v1.278 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to 30544257
Mendeliome v1.277 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.276 SAT1 Ee Ming Wong reviewed gene: SAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35977808; Phenotypes: Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v1.276 NOTCH1 Chern Lim changed review comment from: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Missense and small inframe insertion variants in the negative regulatory region.; to: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Mendeliome v1.276 ADAMTS15 Naomi Baker changed review comment from: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature; to: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature
Mendeliome v1.276 ADAMTS15 Naomi Baker gene: ADAMTS15 was added
gene: ADAMTS15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to PMID: 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related
Review for gene: ADAMTS15 was set to GREEN
Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5).
Sources: Literature
Mendeliome v1.276 NOTCH1 Chern Lim edited their review of gene: NOTCH1: Changed phenotypes: Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mendeliome v1.276 CAPRIN1 Paul De Fazio gene: CAPRIN1 was added
gene: CAPRIN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAPRIN1 were set to 35979925
Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals).

All of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity.
Sources: Literature
Mendeliome v1.276 LHX8 Alison Yeung gene: LHX8 was added
gene: LHX8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX8 were set to 36029299
Phenotypes for gene: LHX8 were set to Inherited premature ovarian failure, MONDO:0019852, LHX8-related
Review for gene: LHX8 was set to GREEN
Added comment: Heterozygous LOF variants identified in 6 families with premature ovarian failure due to oocyte maturation arrest.
Sources: Literature
Mendeliome v1.275 NOTCH1 Chern Lim reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35947102; Phenotypes: leukoencephalopathy and calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.275 GRIN2A Teresa Zhao reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.275 LEF1 Zornitza Stark Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related
Mendeliome v1.274 LEF1 Zornitza Stark Publications for gene: LEF1 were set to 32022899
Mendeliome v1.273 LEF1 Zornitza Stark Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.272 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Mendeliome v1.272 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Mendeliome v1.271 LEF1 Zornitza Stark edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.271 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250
Mendeliome v1.270 REEP1 Zornitza Stark reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.270 CCDC82 Zornitza Stark Marked gene: CCDC82 as ready
Mendeliome v1.270 CCDC82 Zornitza Stark Gene: ccdc82 has been classified as Green List (High Evidence).
Mendeliome v1.270 CCDC82 Zornitza Stark Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related
Mendeliome v1.269 CCDC82 Zornitza Stark Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Mendeliome v1.268 CCDC82 Zornitza Stark reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.268 NPNT Zornitza Stark Marked gene: NPNT as ready
Mendeliome v1.268 NPNT Zornitza Stark Gene: npnt has been classified as Green List (High Evidence).
Mendeliome v1.268 NPNT Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related
Mendeliome v1.267 NPNT Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Mendeliome v1.266 NPNT Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.266 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230 to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia
Mendeliome v1.265 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Mendeliome v1.265 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.265 KIF5B Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230
Mendeliome v1.264 KIF5B Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.264 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome AR; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome, type VI, MIM# 620022; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD
Mendeliome v1.263 COL9A3 Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969, Stickler syndrome, type VI, MIM# 620022, Deafness
Mendeliome v1.263 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Mendeliome v1.263 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Mendeliome v1.262 LNPK Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.262 CCDC82 Chirag Patel Classified gene: CCDC82 as Green List (high evidence)
Mendeliome v1.262 CCDC82 Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence).
Mendeliome v1.261 CCDC82 Chirag Patel gene: CCDC82 was added
gene: CCDC82 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812
Phenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM #
Review for gene: CCDC82 was set to GREEN
Added comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies.
Sources: Literature
Mendeliome v1.260 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Mendeliome v1.260 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Mendeliome v1.260 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Mendeliome v1.260 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Mendeliome v1.259 NPNT Chirag Patel gene: NPNT was added
gene: NPNT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM #
Review for gene: NPNT was set to GREEN
Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models.
Sources: Literature
Mendeliome v1.258 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Mendeliome v1.258 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.258 KIF5B Chirag Patel Classified gene: KIF5B as Green List (high evidence)
Mendeliome v1.258 KIF5B Chirag Patel Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.257 KIF5B Chirag Patel gene: KIF5B was added
gene: KIF5B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to PMID: 35342932
Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM #
Review for gene: KIF5B was set to GREEN
Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Mendeliome v1.256 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058 to Developmental delay, hypotonia, and impaired language, MIM# 620012; Wilms tumour predisposition
Mendeliome v1.255 FBXW7 Zornitza Stark edited their review of gene: FBXW7: Changed phenotypes: Developmental delay, hypotonia, and impaired language, MIM# 620012, Wilms tumour predisposition
Mendeliome v1.255 MDFIC Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014
Mendeliome v1.254 MDFIC Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 12, MIM# 620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.254 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Mendeliome v1.254 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Mendeliome v1.253 ACADS Zornitza Stark changed review comment from: Definitive by ClinGen.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.
Mendeliome v1.253 ACADS Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER
Mendeliome v1.253 FOCAD Zornitza Stark Marked gene: FOCAD as ready
Mendeliome v1.253 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Mendeliome v1.253 FOCAD Zornitza Stark Classified gene: FOCAD as Green List (high evidence)
Mendeliome v1.253 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Mendeliome v1.252 FOCAD Zornitza Stark gene: FOCAD was added
gene: FOCAD was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOCAD were set to 35864190
Phenotypes for gene: FOCAD were set to Liver disease, severe congenital, MIM# 619991
Review for gene: FOCAD was set to GREEN
Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Expert Review
Mendeliome v1.251 TAF4 Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, TAF4-related
Mendeliome v1.250 TAF4 Zornitza Stark Publications for gene: TAF4 were set to 33875846; 28191890
Mendeliome v1.249 TAF4 Zornitza Stark Classified gene: TAF4 as Green List (high evidence)
Mendeliome v1.249 TAF4 Zornitza Stark Gene: taf4 has been classified as Green List (High Evidence).
Mendeliome v1.248 TAF4 Zornitza Stark edited their review of gene: TAF4: Changed rating: GREEN; Changed publications: 33875846, 28191890, 35904126; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related
Mendeliome v1.248 ZMYND8 Zornitza Stark Marked gene: ZMYND8 as ready
Mendeliome v1.248 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Mendeliome v1.248 ZMYND8 Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence)
Mendeliome v1.248 ZMYND8 Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence).
Mendeliome v1.247 ZMYND8 Zornitza Stark gene: ZMYND8 was added
gene: ZMYND8 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Expert Review
Mendeliome v1.246 TRAC Zornitza Stark Tag founder tag was added to gene: TRAC.
Mendeliome v1.246 TRAC Seb Lunke Classified gene: TRAC as Amber List (moderate evidence)
Mendeliome v1.246 TRAC Seb Lunke Added comment: Comment on list classification: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001) Also note annotation issues in certain variant curation and annotation tools.
Mendeliome v1.246 TRAC Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence).
Mendeliome v1.245 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from Neurodevelopmental disorder MONDO:0700092, PAX5-related to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia
Mendeliome v1.244 PAX5 Zornitza Stark Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380
Mendeliome v1.243 PAX5 Zornitza Stark Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.242 PAX5 Zornitza Stark reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.242 PRIM1 Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Mendeliome v1.241 PRIM1 Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Mendeliome v1.241 SMG9 Zornitza Stark Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, MIM# 616920 to Heart and brain malformation syndrome, MIM# 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995
Mendeliome v1.240 SMG9 Zornitza Stark Publications for gene: SMG9 were set to 27018474; 31390136
Mendeliome v1.239 SMG9 Zornitza Stark edited their review of gene: SMG9: Added comment: PMID 35087184: 5 individuals from 3 unrelated Finnish families reported with same homozygous missense variant (founder effect) and predominantly neurological phenotype. Uncertain if this is a distinct disorder or part of a spectrum with the previously reported cases.; Changed publications: 27018474, 31390136, 35087184; Changed phenotypes: Heart and brain malformation syndrome, MIM# 616920, Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995
Mendeliome v1.239 THUMPD1 Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
Mendeliome v1.238 THUMPD1 Zornitza Stark reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.238 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Mendeliome v1.237 OTULIN Zornitza Stark edited their review of gene: OTULIN: Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099, Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Mendeliome v1.237 TAF4 Ee Ming Wong reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846, 28191890, 35904126; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.237 SPTBN5 Zornitza Stark Phenotypes for gene: SPTBN5 were changed from Sacral agenesis; congenital anomalies to Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related; Sacral agenesis; congenital anomalies
Mendeliome v1.236 SPTBN5 Zornitza Stark Publications for gene: SPTBN5 were set to 32732226; 28007035
Mendeliome v1.235 SPTBN5 Zornitza Stark Mode of inheritance for gene: SPTBN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.234 SPTBN5 Zornitza Stark Classified gene: SPTBN5 as Green List (high evidence)
Mendeliome v1.234 SPTBN5 Zornitza Stark Gene: sptbn5 has been classified as Green List (High Evidence).
Mendeliome v1.233 SPTBN5 Zornitza Stark changed review comment from: Identified as a candidate gene in a sacral agenesis cohort.

PMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis.
Sources: Literature; to: Bi-allelic variants: Identified as a candidate gene in a sacral agenesis cohort.

PMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis.
Sources: Literature
Mendeliome v1.233 SPTBN5 Zornitza Stark edited their review of gene: SPTBN5: Added comment: Monoallelic variants:
- Four probands from unrelated families (1x Pakistani and 3x Italian) with de novo heterozygous SPTBN5 variants
- 3x missense variants and 1x LoF variant were reported
- Phenotypes include intellectual disability (mild to severe), aggressive tendencies and variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux; Changed rating: GREEN; Changed publications: 35782384, 32732226, 28007035; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related, Sacral agenesis, congenital anomalies; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.233 CPS1 Zornitza Stark Phenotypes for gene: CPS1 were changed from to Carbamoylphosphate synthetase I deficiency MIM#237300
Mendeliome v1.232 CPS1 Zornitza Stark Mode of inheritance for gene: CPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.231 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pulmonary hypertension, neonatal, susceptibility to} 615371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.231 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related
Mendeliome v1.230 OTULIN Zornitza Stark Publications for gene: OTULIN were set to 27523608; 27559085
Mendeliome v1.229 OTULIN Zornitza Stark Mode of inheritance for gene: OTULIN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.228 OTULIN Zornitza Stark changed review comment from: Autoinflammatory disorder presenting in the newborn period with recurrent fever, erythematous rash with painful nodules, painful joints, diarrhoea and lipodystrophy.; to: Bi-allelic variants: Autoinflammatory disorder presenting in the newborn period with recurrent fever, erythematous rash with painful nodules, painful joints, diarrhoea and lipodystrophy.
Mendeliome v1.228 OTULIN Zornitza Stark edited their review of gene: OTULIN: Added comment: PMID 35587511: Multiple individuals reported with haploinsufficiency of OTULIN and severe staphylococcal disease, with life-threatening skin or pulmonary necrosis. Functional data.; Changed publications: 27523608, 27559085, 35587511; Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099, Susceptibility to infection with Staphylococcus aureus, Hereditary predisposition to infections, MONDO:0015979, OTULIN-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.228 NOX1 Zornitza Stark gene: NOX1 was added
gene: NOX1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NOX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NOX1 were set to 29091079; 32064493
Phenotypes for gene: NOX1 were set to Inflammatory bowel disease, MONDO:0005265, NOX1-related
Review for gene: NOX1 was set to AMBER
Added comment: 8 IBD patients with early onset of IBD with progressive and severe colonic disease, refractory to conventional therapy and functional studies suggesting variant-dependent loss of NOX1-mediated superoxide generation. However, high frequency of nonsynonymous mutations in NOX1 suggests that NOX1 is not a highly penetrant Mendelian disorder and that other genetic modifiers or environmental factors may contribute to disease pathogenesis.

The variant reported in PMID 32064493 is present in 6 hets in gnomad.
Sources: Literature
Mendeliome v1.227 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 to Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
Mendeliome v1.226 BICD2 Zornitza Stark Publications for gene: BICD2 were set to 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393
Mendeliome v1.225 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.224 KIF15 Alison Yeung Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981
Mendeliome v1.223 KIF15 Alison Yeung Marked gene: KIF15 as ready
Mendeliome v1.223 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Mendeliome v1.223 KIF15 Alison Yeung Classified gene: KIF15 as Red List (low evidence)
Mendeliome v1.223 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Mendeliome v1.222 SARS Ain Roesley Publications for gene: SARS were set to 28236339; 34570399
Mendeliome v1.222 SARS Ain Roesley Classified gene: SARS as Green List (high evidence)
Mendeliome v1.222 SARS Ain Roesley Gene: sars has been classified as Green List (High Evidence).
Mendeliome v1.222 SARS Ain Roesley Phenotypes for gene: SARS were changed from Intellectual disability to neurodevelopmental disorder MONDO#070009, SARS1-related
Mendeliome v1.221 PSMC1 Zornitza Stark Marked gene: PSMC1 as ready
Mendeliome v1.221 PSMC1 Zornitza Stark Gene: psmc1 has been classified as Red List (Low Evidence).
Mendeliome v1.221 PSMC1 Zornitza Stark Phenotypes for gene: PSMC1 were changed from spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes to 35861243; spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes
Mendeliome v1.220 SARS Ain Roesley reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35790048; Phenotypes: neurodevelopmental disorder MONDO#070009, SARS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.220 PSMC1 Zornitza Stark Mode of pathogenicity for gene: PSMC1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Mendeliome v1.219 PSMC1 Zornitza Stark Classified gene: PSMC1 as Red List (low evidence)
Mendeliome v1.219 PSMC1 Zornitza Stark Gene: psmc1 has been classified as Red List (Low Evidence).
Mendeliome v1.218 PSMC1 Zornitza Stark edited their review of gene: PSMC1: Changed phenotypes: Syndromic disease MONDO:0002254, PSMC1-related
Mendeliome v1.218 PSMC1 Zornitza Stark commented on gene: PSMC1: Single family only, homozygous missense variant.
Mendeliome v1.218 PSMC1 Zornitza Stark reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: None; Publications: 35861243; Phenotypes: Syndromic disease MONDO:0002254, PSMC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.218 WARS Seb Lunke Publications for gene: WARS were set to PMID: 28369220; 31321409; 31069783.
Mendeliome v1.217 DOHH Zornitza Stark Marked gene: DOHH as ready
Mendeliome v1.217 DOHH Zornitza Stark Gene: dohh has been classified as Green List (High Evidence).
Mendeliome v1.217 WARS Seb Lunke Phenotypes for gene: WARS were changed from Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); distal wasting; distal weakness; length-dependent motor axonal degeneration to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); Neurodevelopmental disorder (MONDO:0700092), WARS-related
Mendeliome v1.216 DOHH Zornitza Stark Classified gene: DOHH as Green List (high evidence)
Mendeliome v1.216 DOHH Zornitza Stark Gene: dohh has been classified as Green List (High Evidence).
Mendeliome v1.215 WARS Seb Lunke Mode of inheritance for gene: WARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.214 PPFIBP1 Zornitza Stark Publications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1
Mendeliome v1.213 SLITRK2 Zornitza Stark Marked gene: SLITRK2 as ready
Mendeliome v1.213 SLITRK2 Zornitza Stark Gene: slitrk2 has been classified as Green List (High Evidence).
Mendeliome v1.213 BICD2 Lucy Spencer reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35896821; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.213 KIF15 Krithika Murali reviewed gene: KIF15: Rating: AMBER; Mode of pathogenicity: None; Publications: 28150392; Phenotypes: ?Braddock-Carey syndrome 2 - MIM#619981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.213 WARS Anna Ritchie reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35815345, PMID: 35790048; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), WARS-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.213 SLITRK2 Zornitza Stark Classified gene: SLITRK2 as Green List (high evidence)
Mendeliome v1.213 SLITRK2 Zornitza Stark Gene: slitrk2 has been classified as Green List (High Evidence).
Mendeliome v1.212 KIF15 Krithika Murali Deleted their review
Mendeliome v1.212 PSMC1 Hazel Phillimore gene: PSMC1 was added
gene: PSMC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC1 were set to PMID: 35861243
Phenotypes for gene: PSMC1 were set to spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes
Mode of pathogenicity for gene: PSMC1 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: PSMC1 was set to AMBER
Added comment: Homozygosity mapping on one large consanguineous Bedouin kindred showed three affected children (out of the ten) to be homozygous for NM_002802.3:c.983T>C; p.(Ile328Thr).

Drosophila rescue experiments were carried out. Transgenic studies using drosophila with the silenced ortholog Rpt2 gene were rescued by the human wild-type PSMC1.

Three of the ten offspring of healthy consanguineous parents of Bedouin Israeli ancestry were affected with a similar phenotype of failure to thrive, developmental delay and severe intellectual disability, spastic tetraplegia with central hypotonia, chorea, as well as hearing loss. None of the three achieved verbal communication or ambulation (sitting / standing) at any age. They had mild dysmorphism of borderline dolichocephaly and microcephaly, prominent bushy eyebrows, flat midface, long nasal bridge and micrognathia. All three had micropenis with undescended testes. One of the affected (as a toddler) underwent thorough endocrinological analysis: testosterone and gonadotropin levels were low.
Sources: Literature
Mendeliome v1.212 KIF15 Krithika Murali gene: KIF15 was added
gene: KIF15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF15 were set to 28150392
Phenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981
Review for gene: KIF15 was set to GREEN
Added comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.

No other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1).
Sources: Literature
Mendeliome v1.212 BMP3 Seb Lunke Marked gene: BMP3 as ready
Mendeliome v1.212 BMP3 Seb Lunke Gene: bmp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.212 BMP3 Seb Lunke Classified gene: BMP3 as Amber List (moderate evidence)
Mendeliome v1.212 BMP3 Seb Lunke Gene: bmp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.211 BMP3 Seb Lunke gene: BMP3 was added
gene: BMP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP3 were set to 35089417
Phenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129
Review for gene: BMP3 was set to AMBER
Added comment: Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD. Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive
Sources: Literature
Mendeliome v1.210 C18orf32 Alison Yeung Marked gene: C18orf32 as ready
Mendeliome v1.210 C18orf32 Alison Yeung Gene: c18orf32 has been classified as Red List (Low Evidence).
Mendeliome v1.210 C18orf32 Alison Yeung Classified gene: C18orf32 as Red List (low evidence)
Mendeliome v1.210 C18orf32 Alison Yeung Gene: c18orf32 has been classified as Red List (Low Evidence).
Mendeliome v1.209 ALG5 Zornitza Stark Marked gene: ALG5 as ready
Mendeliome v1.209 ALG5 Zornitza Stark Gene: alg5 has been classified as Green List (High Evidence).
Mendeliome v1.209 ALG5 Zornitza Stark Classified gene: ALG5 as Green List (high evidence)
Mendeliome v1.209 ALG5 Zornitza Stark Gene: alg5 has been classified as Green List (High Evidence).
Mendeliome v1.208 ALG5 Chern Lim edited their review of gene: ALG5: Changed phenotypes: Cystic renal disease MONDO:0002473, ALG5-related, Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline, few or no liver cysts.
Mendeliome v1.208 ALG5 Chern Lim gene: ALG5 was added
gene: ALG5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG5 were set to 35896117
Phenotypes for gene: ALG5 were set to Cystic renal disease MONDO:0002473, ALG5-related
Review for gene: ALG5 was set to GREEN
gene: ALG5 was marked as current diagnostic
Added comment: PMID:35896117:
- Five unrelated families, including 23 affected individuals with non-enlarged cystic kidneys and few or no liver cysts, 8 of them reached end-stage kidney disease from 62 to 91 years of age. Variant confirmed in all but one individual.
- Various variant types: frameshift, nonsense, two missense, splice.
- Functional studies showed haploinsufficiency is the disease mechanism.
Sources: Literature
Mendeliome v1.208 DOHH Daniel Flanagan gene: DOHH was added
gene: DOHH was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to PMID: 35858628
Phenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)
Review for gene: DOHH was set to GREEN
Added comment: Bi-allelic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. Clinical features were developmental delay and/or intellectual disability (5/5), microcephaly (5/5), visual impairment (nystagmus (3/5), strabismus (3/5), and cortical visual impairment (1/5)) and congenital heart malformations (3/5 individuals).
Sources: Expert list
Mendeliome v1.208 PPFIBP1 Ee Ming Wong reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35830857; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.208 SLITRK2 Paul De Fazio gene: SLITRK2 was added
gene: SLITRK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLITRK2 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: SLITRK2 were set to 35840571
Phenotypes for gene: SLITRK2 were set to Neurodevelopmental disorder, SLITRK2-related MONDO:0700092
Review for gene: SLITRK2 was set to GREEN
gene: SLITRK2 was marked as current diagnostic
Added comment: 6 missense variants and 1 nonsense variant (NOT NMD-predicted, single-exon gene) reported in 7 males and 1 female with neurodevelopmental disorders. Phenotypes included dev delay, mild to severe ID, delayed or absent speech, seizures and brain MRI anomalies (in some patients).

The nonsense variant was identified in two affected brothers but not in the mother, suggesting it was de novo in the maternal germline. The variant in the one affected female was de novo. All other variants in hemizygous males were inherited from an unaffected mother. In one case, the variant was also identified in the unaffected grandmother.

Functional studies showed some but not all variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects. Conditional knockout mice exhibited impaired long-term memory and abnormal gait.
Sources: Literature
Mendeliome v1.208 RFC1 Ain Roesley Publications for gene: RFC1 were set to 30926972
Mendeliome v1.208 RFC1 Ain Roesley Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Mendeliome v1.207 RFC1 Ain Roesley Classified gene: RFC1 as Amber List (moderate evidence)
Mendeliome v1.207 RFC1 Ain Roesley Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.206 C18orf32 Naomi Baker gene: C18orf32 was added
gene: C18orf32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C18orf32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C18orf32 were set to PMID:35107634
Phenotypes for gene: C18orf32 were set to Neurodevelopmental disorder (MONDO:0700092), C18orf32-related
Review for gene: C18orf32 was set to RED
Added comment: Two siblings reported as affected, although sequencing only performed in one sibling, with homozygous loss-of-function variant identified. Clinical presentation included developmental delay, recurrent lower respiratory tract infections, sparse rough hair, roving eye movements, hypotonia, bilateral ankle contractures and inverted nipples.
Sources: Literature
Mendeliome v1.206 ADGRL1 Elena Savva Classified gene: ADGRL1 as Green List (high evidence)
Mendeliome v1.206 ADGRL1 Elena Savva Gene: adgrl1 has been classified as Green List (High Evidence).
Mendeliome v1.205 RFC1 Ain Roesley reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.205 ADGRL1 Elena Savva Classified gene: ADGRL1 as Green List (high evidence)
Mendeliome v1.205 ADGRL1 Elena Savva Gene: adgrl1 has been classified as Green List (High Evidence).
Mendeliome v1.204 ADGRL1 Elena Savva Marked gene: ADGRL1 as ready
Mendeliome v1.204 ADGRL1 Elena Savva Gene: adgrl1 has been classified as Red List (Low Evidence).
Mendeliome v1.204 ADGRL1 Elena Savva gene: ADGRL1 was added
gene: ADGRL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADGRL1 were set to PMID: 35907405
Phenotypes for gene: ADGRL1 were set to Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092)
Review for gene: ADGRL1 was set to GREEN
Added comment: PMID: 35907405 - 9 patients w/ ADHD (3/9), autism (4/9), mild-moderate ID (5/9) and epilepsy (2/9) and facial dysmorphism (7/9). Variants include missense (4) and PTCs (5), and were either de novo (7/9) or inherited from parents with learning difficulties/ID (2/9).

Functional studies on both PTCs and missense variants show significant reductions in calcium signalling and surface protein.

Het null mouse model shows neurological and developmental abnormalities, with hom null mice non-viable.
Sources: Literature
Mendeliome v1.203 EHHADH Zornitza Stark Classified gene: EHHADH as Amber List (moderate evidence)
Mendeliome v1.203 EHHADH Zornitza Stark Gene: ehhadh has been classified as Amber List (Moderate Evidence).
Mendeliome v1.202 EHHADH Zornitza Stark edited their review of gene: EHHADH: Added comment: https://clinmedjournals.org/articles/jcnrc/journal-of-clinical-nephrology-and-renal-care-jcnrc-3-027.pdf

Second case report, same variant, de novo. Also, experimental evidence. Assessed as MODERATE by ClinGen.; Changed rating: AMBER
Mendeliome v1.202 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis 6 - MIM#607200 to Thyroid dyshormonogenesis 6 - MIM#607200; Inflammatory bowel disease, MONDO:0005265, DUOX2-related
Mendeliome v1.201 DUOX2 Zornitza Stark Publications for gene: DUOX2 were set to
Mendeliome v1.200 DUOX2 Zornitza Stark Mode of inheritance for gene: DUOX2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.199 DUOX2 Zornitza Stark Classified gene: DUOX2 as Amber List (moderate evidence)
Mendeliome v1.199 DUOX2 Zornitza Stark Gene: duox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.198 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35429653, 27373512, 26301257, 28683258; Phenotypes: Inflammatory bowel disease, MONDO:0005265, DUOX2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.198 CWH43 Zornitza Stark Marked gene: CWH43 as ready
Mendeliome v1.198 CWH43 Zornitza Stark Gene: cwh43 has been classified as Red List (Low Evidence).
Mendeliome v1.198 CWH43 Zornitza Stark Phenotypes for gene: CWH43 were changed from normal pressure hydrocephalus to Hydrocephalus MONDO:0001150, CWH43-related
Mendeliome v1.197 CWH43 Zornitza Stark Classified gene: CWH43 as Red List (low evidence)
Mendeliome v1.197 CWH43 Zornitza Stark Gene: cwh43 has been classified as Red List (Low Evidence).
Mendeliome v1.196 CWH43 Zornitza Stark Tag cnv tag was added to gene: CWH43.
Mendeliome v1.196 CWH43 Zornitza Stark reviewed gene: CWH43: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus MONDO:0001150, CWH43-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.196 CWH43 Anna Le Fevre gene: CWH43 was added
gene: CWH43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CWH43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CWH43 were set to PMID: 33459505; 34380733
Phenotypes for gene: CWH43 were set to normal pressure hydrocephalus
Penetrance for gene: CWH43 were set to Incomplete
Review for gene: CWH43 was set to AMBER
Added comment: Sources: Literature
Mendeliome v1.196 ADGRA3 Zornitza Stark Marked gene: ADGRA3 as ready
Mendeliome v1.196 ADGRA3 Zornitza Stark Gene: adgra3 has been classified as Red List (Low Evidence).
Mendeliome v1.196 ADGRA3 Zornitza Stark gene: ADGRA3 was added
gene: ADGRA3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ADGRA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRA3 were set to 23105016
Phenotypes for gene: ADGRA3 were set to Retinitis pigmentosa, MONDO:0019200, ADGRA3-related
Review for gene: ADGRA3 was set to RED
Added comment: Only one report of a missense that is a VUS identified as a candidate through autozygome analysis (PMID: 23105016)
Sources: Expert Review
Mendeliome v1.195 TAF8 Zornitza Stark Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972
Mendeliome v1.194 TAF8 Zornitza Stark edited their review of gene: TAF8: Changed phenotypes: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972
Mendeliome v1.194 POU3F3 Zornitza Stark Phenotypes for gene: POU3F3 were changed from Intellectual disability to Snijders Blok-Fisher syndrome MIM#618604
Mendeliome v1.193 POU3F3 Zornitza Stark edited their review of gene: POU3F3: Changed phenotypes: Snijders Blok-Fisher syndrome MIM#618604
Mendeliome v1.193 ROBO4 Zornitza Stark Phenotypes for gene: ROBO4 were changed from bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation to Aortic valve disease 8, MIM#618496; bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation
Mendeliome v1.192 ROBO4 Zornitza Stark Publications for gene: ROBO4 were set to 30455415
Mendeliome v1.191 ROBO4 Zornitza Stark Classified gene: ROBO4 as Amber List (moderate evidence)
Mendeliome v1.191 ROBO4 Zornitza Stark Gene: robo4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.190 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Mendeliome v1.189 EIF2B1 Zornitza Stark Publications for gene: EIF2B1 were set to 11835386; 26285592; 15776425; 18263758; 25843247; 25761052; 30014503
Mendeliome v1.188 EIF2B1 Zornitza Stark Mode of inheritance for gene: EIF2B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.187 EIF2B1 Zornitza Stark reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.187 MCM10 Zornitza Stark Publications for gene: MCM10 were set to 32865517; 33712616
Mendeliome v1.186 MCM10 Zornitza Stark Classified gene: MCM10 as Amber List (moderate evidence)
Mendeliome v1.186 MCM10 Zornitza Stark Gene: mcm10 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.185 MCM10 Zornitza Stark edited their review of gene: MCM10: Added comment: PMID 33712616: further functional validation.; Changed rating: AMBER; Changed publications: 32865517, 33712616, 33712616
Mendeliome v1.185 IKZF1 Zornitza Stark Phenotypes for gene: IKZF1 were changed from Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset; Immune dysregulation
Mendeliome v1.184 IKZF1 Zornitza Stark Publications for gene: IKZF1 were set to 21548011; 26981933; 29889099; 31057532; 7923373; 11805317
Mendeliome v1.183 IKZF1 Zornitza Stark edited their review of gene: IKZF1: Added comment: PMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.; Changed publications: 21548011, 26981933, 29889099, 31057532, 7923373, 11805317, 35333544; Changed phenotypes: Immunodeficiency, common variable, 13 MIM# 616873, recurrent bacterial respiratory infections, Thrombocytopaenia, immunodeficiency, Hypogammaglobulinaemia, decrease B-cells, decrease B-cell differentiation, decrease memory B/T cells, Low Ig, pneumocystis early CID onset, Immune dysregulation
Mendeliome v1.183 IKZF2 Zornitza Stark Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation
Mendeliome v1.182 IKZF2 Zornitza Stark Publications for gene: IKZF2 were set to 34920454
Mendeliome v1.181 IKZF2 Zornitza Stark Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.180 IKZF2 Zornitza Stark edited their review of gene: IKZF2: Added comment: Iranian male with homozygous missense variant with recurrent infection, hypogammaglobulinaemia. Extends inheritance to AR. Supportive functional data.; Changed publications: 34920454, 34826259; Changed phenotypes: Immunodeficiency, MONDO:0021094, IKZF2-related, Immune dysregulation; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.180 TMEM63C Zornitza Stark Marked gene: TMEM63C as ready
Mendeliome v1.180 TMEM63C Zornitza Stark Gene: tmem63c has been classified as Green List (High Evidence).
Mendeliome v1.180 TMEM63C Zornitza Stark Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966
Mendeliome v1.179 TMEM63C Zornitza Stark reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 87, autosomal recessive, MIM# 619966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.179 ROBO4 Elena Savva reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:30455415, 32748548; Phenotypes: Aortic valve disease 8 MIM#618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.179 EIF2B1 Elena Savva reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31882561; Phenotypes: Leukoencephalopathy with vanishing white matter MIM#603896, permanent neonatal/early onset diabetes and transient liver dysfunction; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.179 ARFGEF1 Zornitza Stark Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964
Mendeliome v1.178 ARFGEF1 Zornitza Stark edited their review of gene: ARFGEF1: Changed phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964
Mendeliome v1.178 PAK2 Zornitza Stark Phenotypes for gene: PAK2 were changed from Knobloch 2 syndrome to Knobloch 2 syndrome, MIM#618458
Mendeliome v1.177 INPP5E Zornitza Stark Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686; 19668215
Mendeliome v1.176 INPP5E Zornitza Stark edited their review of gene: INPP5E: Added comment: Additional MORM family reported in PMID 34211432, hmz LoF.; Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215, 34211432
Mendeliome v1.176 WASL Zornitza Stark Marked gene: WASL as ready
Mendeliome v1.176 WASL Zornitza Stark Gene: wasl has been classified as Red List (Low Evidence).
Mendeliome v1.176 WASL Zornitza Stark gene: WASL was added
gene: WASL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WASL were set to 33571872
Phenotypes for gene: WASL were set to Parkinson's disease, MONDO:0005180, WASL-related
Review for gene: WASL was set to RED
Added comment: Single family reported, where bi-allelic variants segregated with PD in three affected individuals.
Sources: Literature
Mendeliome v1.175 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia (MIM#212065) to Congenital disorder of glycosylation, type Ia (MIM#212065); Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related
Mendeliome v1.174 PMM2 Zornitza Stark Publications for gene: PMM2 were set to 28108845
Mendeliome v1.173 PMM2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: CDG: Well established gene-disease association.
Mendeliome v1.173 PMM2 Zornitza Stark edited their review of gene: PMM2: Added comment: Association with HIPKD:
Cabezas et al (2017) reported co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD in 17 children from 11 unrelated families. Patients presented with hyperinsulinaemic hypoglycaemia in infancy and enlarged kidneys with multiple kidney cysts. Some progressed to ESKD and some had liver cysts. Whole-genome linkage analysis in 5 informative families identified a single significant locus on chromosome 16p13.2. Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, they found in all patients a promoter mutation (c.-167G>T) in PMM2, either homozygous or in trans with PMM2 coding mutations. They found deglycosylation in cultured pancreatic β cells altered insulin secretion. In vitro, the PMM2 promoter mutation associated with decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. In silico analysis suggested an important role of ZNF143 for the formation of a chromatin loop including PMM2. They proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. None of the patients exhibited the typical clinical or diagnostic features of CDG1A. Serum transferrin glycosylation was normal in 11 patients who had assessment.; Changed publications: 28108845, 28373276, 32595772; Changed phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065), Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related
Mendeliome v1.173 SLCO2A1 Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related
Mendeliome v1.172 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to 23509104; 27134495; 33852188; 22331663; 27134495
Mendeliome v1.171 SLCO2A1 Zornitza Stark edited their review of gene: SLCO2A1: Added comment: PMID 29313109: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology. Some overlap with the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO.; Changed publications: 23509104, 27134495, 33852188, 22331663, 27134495, 29313109; Changed phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441, Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related
Mendeliome v1.171 CTR9 Zornitza Stark Phenotypes for gene: CTR9 were changed from Neurodevelopmental disorder (MONDO:0700092), CTR9 related to Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Familial Wilms tumour, MONDO:0006058, CTR9-related
Mendeliome v1.170 CTR9 Zornitza Stark Publications for gene: CTR9 were set to PMID: 35499524
Mendeliome v1.169 CTR9 Zornitza Stark reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25099282, 29292210; Phenotypes: Familial Wilms tumour, MONDO:0006058, CTR9-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.169 C20orf24 Zornitza Stark Tag new gene name tag was added to gene: C20orf24.
Mendeliome v1.169 C20orf24 Zornitza Stark Marked gene: C20orf24 as ready
Mendeliome v1.169 C20orf24 Zornitza Stark Gene: c20orf24 has been classified as Red List (Low Evidence).
Mendeliome v1.169 C20orf24 Zornitza Stark gene: C20orf24 was added
gene: C20orf24 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C20orf24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C20orf24 were set to 35614220; 24194475
Phenotypes for gene: C20orf24 were set to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994
Review for gene: C20orf24 was set to RED
Added comment: Bi-allelic LoF variant identified in patient originally reported in PMID 24194475.

HGNC approved name is RAB5IF.
Sources: Literature
Mendeliome v1.168 IL23R Zornitza Stark edited their review of gene: IL23R: Changed phenotypes: Immunodeficiency disease, MONDO:0021094, Susceptibility to mycobacteria and Salmonella Edit
Mendeliome v1.168 IL23R Zornitza Stark edited their review of gene: IL23R: Changed phenotypes: Immunodeficiency disease, MONDO:0021094
Mendeliome v1.168 IL23R Zornitza Stark Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella
Mendeliome v1.167 IL23R Zornitza Stark Publications for gene: IL23R were set to 30578351
Mendeliome v1.166 IL23R Zornitza Stark Classified gene: IL23R as Amber List (moderate evidence)
Mendeliome v1.166 IL23R Zornitza Stark Gene: il23r has been classified as Amber List (Moderate Evidence).
Mendeliome v1.165 IL23R Zornitza Stark edited their review of gene: IL23R: Added comment: PMID 35829840: 48yo male with disseminated NTM homozygous (p.R381X) with supportive functional data.; Changed rating: AMBER; Changed publications: 30578351, 35829840
Mendeliome v1.165 HYOU1 Zornitza Stark Classified gene: HYOU1 as Amber List (moderate evidence)
Mendeliome v1.165 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.164 HYOU1 Zornitza Stark edited their review of gene: HYOU1: Added comment: Second individual reported in PMID: 35822684 with severe neutropenia.; Changed rating: AMBER; Changed publications: 27913302, 35822684; Changed phenotypes: Immunodeficiency 59 and hypoglycemia, MIM# 233600
Mendeliome v1.164 PPP1R13L Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Dilated cardiomyopathy, onset in infancy to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy
Mendeliome v1.163 CHD5 Elena Savva Phenotypes for gene: CHD5 were changed from Intellectual disability; Epilepsy to Parenti-Mignot neurodevelopmental syndrome MIM#619873
Mendeliome v1.162 CHD5 Elena Savva reviewed gene: CHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33944996; Phenotypes: Parenti-Mignot neurodevelopmental syndrome MIM#619873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.162 PPP1R13L Krithika Murali reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.162 GINS3 Zornitza Stark Marked gene: GINS3 as ready
Mendeliome v1.162 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Mendeliome v1.162 GINS3 Zornitza Stark Classified gene: GINS3 as Green List (high evidence)
Mendeliome v1.162 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Mendeliome v1.161 GINS3 Zornitza Stark gene: GINS3 was added
gene: GINS3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS3 were set to 35603789
Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related
Review for gene: GINS3 was set to GREEN
Added comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model.
Sources: Literature
Mendeliome v1.160 UBA2 Zornitza Stark Phenotypes for gene: UBA2 were changed from Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Mendeliome v1.159 UBA2 Zornitza Stark reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ACCES syndrome, MIM# 619959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.159 C9orf84 Zornitza Stark Marked gene: C9orf84 as ready
Mendeliome v1.159 C9orf84 Zornitza Stark Gene: c9orf84 has been classified as Green List (High Evidence).
Mendeliome v1.159 C9orf84 Zornitza Stark Classified gene: C9orf84 as Green List (high evidence)
Mendeliome v1.159 C9orf84 Zornitza Stark Gene: c9orf84 has been classified as Green List (High Evidence).
Mendeliome v1.158 C9orf84 Zornitza Stark Tag new gene name tag was added to gene: C9orf84.
Mendeliome v1.158 C9orf84 Zornitza Stark changed review comment from: 8 families reported with bi-allelic variants in this gene and spermatogenic failure.
Sources: Literature; to: 8 families reported with bi-allelic variants in this gene and spermatogenic failure. A male germ cell-specific Shoc1 knockout mouse model recapitulates the phenotype (germline knockout: early lethality).

HGNC approved name is SHOC1.

Sources: Literature
Mendeliome v1.158 C9orf84 Zornitza Stark gene: C9orf84 was added
gene: C9orf84 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C9orf84 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C9orf84 were set to 32741963; 32900840; 35485979
Phenotypes for gene: C9orf84 were set to Spermatogenic failure 75, MIM# 619949
Review for gene: C9orf84 was set to GREEN
Added comment: 8 families reported with bi-allelic variants in this gene and spermatogenic failure.
Sources: Literature
Mendeliome v1.157 HIST1H4E Zornitza Stark Phenotypes for gene: HIST1H4E were changed from Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092 to Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950
Mendeliome v1.156 HIST1H4E Zornitza Stark Tag new gene name tag was added to gene: HIST1H4E.
Mendeliome v1.156 HIST1H4E Zornitza Stark reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.156 KMT2B Zornitza Stark Publications for gene: KMT2B were set to 27839873; 27992417
Mendeliome v1.155 KMT2B Zornitza Stark edited their review of gene: KMT2B: Added comment: Nine individuals reported in PMID 33150406 with heterozygous variants in this gene and intellectual disability, speech delay, microcephaly, growth delay, feeding problems, and dysmorphic features, including epicanthic folds, posteriorly rotated ears, syndactyly/clinodactyly of toes, and fifth finger clinodactyly, normal MRIs and NO dystonia.; Changed publications: 27839873, 27992417, 33150406; Changed phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004, Intellectual developmental disorder, autosomal dominant 68, MIM# 619934
Mendeliome v1.155 LMAN2L Zornitza Stark Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52; OMIM #616887 to Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863
Mendeliome v1.154 LMAN2L Zornitza Stark edited their review of gene: LMAN2L: Changed phenotypes: Mental retardation, autosomal recessive, 52 OMIM #616887, Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863
Mendeliome v1.154 CDH2 Zornitza Stark edited their review of gene: CDH2: Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929, Attention deficit-hyperactivity disorder 8 , MIM# 619957
Mendeliome v1.154 CDH2 Zornitza Stark Phenotypes for gene: CDH2 were changed from Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929 to Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929; Attention deficit-hyperactivity disorder 8 , MIM# 619957
Mendeliome v1.153 CDH2 Zornitza Stark Mode of inheritance for gene: CDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.152 CDH2 Zornitza Stark edited their review of gene: CDH2: Added comment: PMID 34702855: three sibs with homozygous missense and strikingly severe ADHD. Mouse model of same variant recapitulated the phenotype. AMBER for bi-allelic association (segregation and functional data).; Changed publications: 31585109, 34702855; Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929:Attention deficit-hyperactivity disorder 8 , MIM# 619957; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.152 PLXNA1 Zornitza Stark Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955
Mendeliome v1.151 PLXNA1 Zornitza Stark edited their review of gene: PLXNA1: Changed phenotypes: Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955
Mendeliome v1.151 TBP Zornitza Stark Tag STR tag was added to gene: TBP.
Mendeliome v1.151 KITLG Zornitza Stark Phenotypes for gene: KITLG were changed from Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697; deafness; heterochromia iridis; hypopigmentation of the skin; hyperpigmentation of the skin; Waardenburg syndrome,MONDO:0018094, KITLG-related
Mendeliome v1.150 KITLG Zornitza Stark Publications for gene: KITLG were set to 26522471
Mendeliome v1.149 KITLG Zornitza Stark Classified gene: KITLG as Green List (high evidence)
Mendeliome v1.149 KITLG Zornitza Stark Gene: kitlg has been classified as Green List (High Evidence).
Mendeliome v1.148 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Mendeliome v1.148 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.148 CLDN5 Zornitza Stark Classified gene: CLDN5 as Amber List (moderate evidence)
Mendeliome v1.148 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.147 CLDN5 Zornitza Stark gene: CLDN5 was added
gene: CLDN5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to 35714222
Phenotypes for gene: CLDN5 were set to alternating hemiplegia, MONDO:0016210, CLDN5-related
Mode of pathogenicity for gene: CLDN5 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: CLDN5 was set to AMBER
Added comment: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg).

One with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis.

CT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability when compared to wildtype.
Sources: Literature
Mendeliome v1.146 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to 26524591
Mendeliome v1.145 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.144 PSMB9 Zornitza Stark Classified gene: PSMB9 as Green List (high evidence)
Mendeliome v1.144 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Green List (High Evidence).
Mendeliome v1.143 PSMB9 Zornitza Stark edited their review of gene: PSMB9: Added comment: Two additional individuals with neonatal onset autoinflammatory syndrome and a mouse model. De novo recurrent missense G156D.; Changed rating: GREEN; Changed publications: 26524591, 34819510; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.143 HCK Zornitza Stark Marked gene: HCK as ready
Mendeliome v1.143 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Mendeliome v1.143 HCK Zornitza Stark Classified gene: HCK as Amber List (moderate evidence)
Mendeliome v1.143 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Mendeliome v1.142 HCK Zornitza Stark gene: HCK was added
gene: HCK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCK were set to 34536415
Phenotypes for gene: HCK were set to Autoinflammatory syndrome, MONDO:0019751, HCK-related
Mode of pathogenicity for gene: HCK was set to Other
Review for gene: HCK was set to AMBER
Added comment: Single patient with supportive functional data.
Sources: Literature
Mendeliome v1.141 TBX21 Zornitza Stark Classified gene: TBX21 as Amber List (moderate evidence)
Mendeliome v1.141 TBX21 Zornitza Stark Gene: tbx21 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.140 TBX21 Zornitza Stark changed review comment from: Single individual reported with disseminated disease following BCG vaccination, who subsequently developed severe persistent reactive airway disease and eosinophilia that responded to steroid treatment. Homozygous variant identified.

Association with asthma and nasal polyps pertains to promoter SNPs.; to: Single individual reported with disseminated disease following BCG vaccination, who subsequently developed severe persistent reactive airway disease and eosinophilia that responded to steroid treatment. Homozygous variant identified. Functional data.

Association with asthma and nasal polyps pertains to promoter SNPs.
Mendeliome v1.140 TBX21 Zornitza Stark edited their review of gene: TBX21: Changed rating: AMBER
Mendeliome v1.140 TTC25 Zornitza Stark Publications for gene: TTC25 were set to 27486780
Mendeliome v1.139 TTC25 Zornitza Stark Classified gene: TTC25 as Green List (high evidence)
Mendeliome v1.139 TTC25 Zornitza Stark Gene: ttc25 has been classified as Green List (High Evidence).
Mendeliome v1.138 KITLG Dean Phelan reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 35543077, 28504826, 19375057, 21368769; Phenotypes: deafness, heterochromia iridis, hypopigmentation of the skin, hyperpigmentation of the skin, Waardenburg syndrome,MONDO:0018094, KITLG-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.138 NFATC2 Zornitza Stark Marked gene: NFATC2 as ready
Mendeliome v1.138 NFATC2 Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence).
Mendeliome v1.138 NFATC2 Zornitza Stark Classified gene: NFATC2 as Red List (low evidence)
Mendeliome v1.138 NFATC2 Zornitza Stark Gene: nfatc2 has been classified as Red List (Low Evidence).
Mendeliome v1.137 NFATC2 Paul De Fazio gene: NFATC2 was added
gene: NFATC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFATC2 were set to 35789258
Phenotypes for gene: NFATC2 were set to Skeletal system disorder MONDO:0005172
Review for gene: NFATC2 was set to RED
gene: NFATC2 was marked as current diagnostic
Added comment: Patient born to consanguineous parents homozygous for a frameshift variant. No other (unaffected) members of the family were homozygous. Family history of recurrent childhood deaths.

After a healthy birth the patient developed painless decreased range of motion at 1.5yrs leading to difficulty with ambulation at 3yrs. Formal orthopedic assessment at age 15 years
demonstrated a neurodevelopmentally normal young man with marked bilateral fixed flexion contractures of knees, hips, and ankles. The main musculoskeletal findings were painless contractures of the large and small joints of the upper and lower limbs, osteochondromas, and osteopenia. Patient was diagnosed with B-cell lymphoma at age 18.

Patient CD8+ T-cells show impaired polyfunctionality, and the patient had an accumulation of non-functional memory CD4+ T-cells. TFH cell function was also impaired.
Sources: Literature
Mendeliome v1.137 PIK3C2B Zornitza Stark Marked gene: PIK3C2B as ready
Mendeliome v1.137 PIK3C2B Zornitza Stark Gene: pik3c2b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.137 PIK3C2B Zornitza Stark Classified gene: PIK3C2B as Amber List (moderate evidence)
Mendeliome v1.137 PIK3C2B Zornitza Stark Gene: pik3c2b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.136 CCDC155 Zornitza Stark Marked gene: CCDC155 as ready
Mendeliome v1.136 CCDC155 Zornitza Stark Gene: ccdc155 has been classified as Green List (High Evidence).
Mendeliome v1.136 CCDC155 Zornitza Stark Phenotypes for gene: CCDC155 were changed from Non-obstructive azoospermia; Premature ovarian insufficiency to Non-obstructive azoospermia; Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related
Mendeliome v1.135 CCDC155 Zornitza Stark Classified gene: CCDC155 as Green List (high evidence)
Mendeliome v1.135 CCDC155 Zornitza Stark Gene: ccdc155 has been classified as Green List (High Evidence).
Mendeliome v1.134 PIK3C2B Krithika Murali gene: PIK3C2B was added
gene: PIK3C2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PIK3C2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3C2B were set to PMID:35786744
Phenotypes for gene: PIK3C2B were set to familial partial epilepsy - MONDO#0017704
Review for gene: PIK3C2B was set to AMBER
Added comment: No OMIM gene disease association.

Gozzelino et al.(2022) Brain - report enrichment of ultra-rare PIK3C2B variants in focal epilepsy cohorts, including one variant shown to be de novo (G1294Q). Segregation data not provided for all cases. The p.G1345S variant was inherited from an affected father. The p.K584* variant was inherited from an unaffected father suggesting incomplete penetrance. Functional studies supported a LoF mechanism and mouse model studies suggestive of mTORC1 pathway hyperactivation.
Sources: Literature
Mendeliome v1.134 CCDC155 Zornitza Stark Tag new gene name tag was added to gene: CCDC155.
Mendeliome v1.134 CCDC155 Melanie Marty gene: CCDC155 was added
gene: CCDC155 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC155 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC155 were set to 35674372; 35708642; 29790874; 35587281
Phenotypes for gene: CCDC155 were set to Non-obstructive azoospermia; Premature ovarian insufficiency
Review for gene: CCDC155 was set to GREEN
Added comment: Current HGNC name is KASH5

Summary: 4 families reported with non-obstructive azoospermia or premature ovarian insufficiency. Functional studies have been performed and mouse models recapitulate the phenotype.

PMID: 35674372 CNV and frameshift variants in KASH5 were identified in a non-obstructive azoospermia affected patient and in his infertile sister by whole-exome sequencing and CNV array. Kash5 knockout mouse displayed similar phenotypes, including a meiotic arrest at a zygotene-like stage and impaired pairing and synapsis.

PMID: 35708642 Hom splice identified in KASH5 in 2 sisters with premature ovarian insufficiency. In vitro studies found the variant disturbed the nuclear membrane localization of KASH5 and its binding with SUN1. Moreover, the Kash5 C-terminal deleted mice revealed defective meiotic homolog pairing and accelerated depletion of oocytes.

PMID: 29790874 2 brothers with non-obstructive azoospermia with hom missense in CCDC155

35587281 2 siblings with hom missense in CCDC155 non-obstructive azoospermia and premature ovarian insufficiency.
Sources: Literature
Mendeliome v1.134 SLC30A7 Alison Yeung Marked gene: SLC30A7 as ready
Mendeliome v1.134 SLC30A7 Alison Yeung Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.134 SLC30A7 Alison Yeung Classified gene: SLC30A7 as Amber List (moderate evidence)
Mendeliome v1.134 SLC30A7 Alison Yeung Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.133 ASPH Zornitza Stark Phenotypes for gene: ASPH were changed from Traboulsi syndrome , MIM#601552 to Traboulsi syndrome , MIM#601552; Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related
Mendeliome v1.132 ASPH Zornitza Stark Publications for gene: ASPH were set to 24768550; 30194805; 34018898
Mendeliome v1.131 ASPH Zornitza Stark Mode of inheritance for gene: ASPH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.130 SLC30A7 Naomi Baker gene: SLC30A7 was added
gene: SLC30A7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC30A7 were set to PMID: 35751429
Phenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related
Review for gene: SLC30A7 was set to AMBER
Added comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported.
Sources: Literature
Mendeliome v1.130 ASPH Paul De Fazio reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 35697689; Phenotypes: Exertional heat illness, malignant hyperthermia susceptibility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v1.130 CHMP3 Zornitza Stark Marked gene: CHMP3 as ready
Mendeliome v1.130 CHMP3 Zornitza Stark Gene: chmp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.130 CHMP3 Zornitza Stark Classified gene: CHMP3 as Amber List (moderate evidence)
Mendeliome v1.130 CHMP3 Zornitza Stark Gene: chmp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.129 PABPC1 Elena Savva Marked gene: PABPC1 as ready
Mendeliome v1.129 PABPC1 Elena Savva Gene: pabpc1 has been classified as Green List (High Evidence).
Mendeliome v1.129 PABPC1 Elena Savva Classified gene: PABPC1 as Green List (high evidence)
Mendeliome v1.129 PABPC1 Elena Savva Gene: pabpc1 has been classified as Green List (High Evidence).
Mendeliome v1.128 PABPC1 Elena Savva gene: PABPC1 was added
gene: PABPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PABPC1 were set to PMID: 35511136
Phenotypes for gene: PABPC1 were set to Neurodevelopmental disorder, PABPC1-related (MONDO#0700092)
Review for gene: PABPC1 was set to GREEN
Added comment: PMID: 35511136 - 4 probands with an overlapping phenotype of DD, expressive speech delay, and autistic features and heterozygous de novo variants that cluster in the PABP domain of PABPC1.
Electroporation of mouse embryo brains showed that Pabpc1 knockdown decreases the proliferation of neural progenitor cells. Wild-type Pabpc1 could rescue this disturbance, whereas 3 of the 4 variants did not.
Sources: Literature
Mendeliome v1.127 WNK3 Zornitza Stark Marked gene: WNK3 as ready
Mendeliome v1.127 WNK3 Zornitza Stark Gene: wnk3 has been classified as Green List (High Evidence).
Mendeliome v1.127 WNK3 Zornitza Stark reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.127 WNK3 Zornitza Stark Classified gene: WNK3 as Green List (high evidence)
Mendeliome v1.127 WNK3 Zornitza Stark Gene: wnk3 has been classified as Green List (High Evidence).
Mendeliome v1.126 CHMP3 Chern Lim gene: CHMP3 was added
gene: CHMP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP3 were set to PMID: 35710109
Phenotypes for gene: CHMP3 were set to Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related
Review for gene: CHMP3 was set to AMBER
gene: CHMP3 was marked as current diagnostic
Added comment: PMID: 35710109
- Single large family with consanguinity, homozygous missense variant in 5 affected individuals with intellectual and progressive motor disabilities, seizures and spastic quadriplegia.
- Functional studies showed reduced CHMP3 protein in patient's fibroblasts, lenti-rescue study showed improved cellular phenotypes associated with impaired autophagy.
Sources: Literature
Mendeliome v1.126 WNK3 Lucy Spencer gene: WNK3 was added
gene: WNK3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WNK3 were set to 35678782
Phenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092)
Added comment: 6 maternally inherited hemizygous variants, 3 missense, 2 canonical splice, and a nonsense. Seen in 14 individuals from 6 families, all 14 are male who inherited hemizygous variants from their unaffected heterozygous mothers. The variants cosegregated with disease in 3 families with multiple affected individuals. All 14 patients have ID, 11 have speech delay, 10 have facial abnormalities, 5 have seizures, 6 with microcephaly and 7 with anomalies in brain imaging.
Sources: Literature
Mendeliome v1.126 WNT7B Zornitza Stark Marked gene: WNT7B as ready
Mendeliome v1.126 WNT7B Zornitza Stark Gene: wnt7b has been classified as Green List (High Evidence).
Mendeliome v1.126 WNT7B Zornitza Stark Classified gene: WNT7B as Green List (high evidence)
Mendeliome v1.126 WNT7B Zornitza Stark Gene: wnt7b has been classified as Green List (High Evidence).
Mendeliome v1.125 WNT7B Zornitza Stark gene: WNT7B was added
gene: WNT7B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
Review for gene: WNT7B was set to GREEN
Added comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model.
Sources: Literature
Mendeliome v1.124 TMEM63C Elena Savva Classified gene: TMEM63C as Green List (high evidence)
Mendeliome v1.124 TMEM63C Elena Savva Gene: tmem63c has been classified as Green List (High Evidence).
Mendeliome v1.123 TMEM63C Elena Savva gene: TMEM63C was added
gene: TMEM63C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM63C were set to PMID: 35718349
Phenotypes for gene: TMEM63C were set to Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related
Review for gene: TMEM63C was set to GREEN
Added comment: PMID: 35718349 - Four NMD PTCs observed in at least 3 unrelated patients. Two segregated strongly in highly consanguineous families.
Common clinical details include mild ID, spastic paraplegia, hypereflexia, spasticity, delayed motor development. Single patient was microcephalic
Sources: Literature
Mendeliome v1.122 MAL Zornitza Stark Marked gene: MAL as ready
Mendeliome v1.122 MAL Zornitza Stark Gene: mal has been classified as Amber List (Moderate Evidence).
Mendeliome v1.122 MAL Zornitza Stark Classified gene: MAL as Amber List (moderate evidence)
Mendeliome v1.122 MAL Zornitza Stark Gene: mal has been classified as Amber List (Moderate Evidence).
Mendeliome v1.121 MAL Zornitza Stark gene: MAL was added
gene: MAL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAL were set to 35217805
Phenotypes for gene: MAL were set to Leukodystrophy MONDO:0019046, MAL-related
Review for gene: MAL was set to AMBER
Added comment: Single family with two affected siblings reported, with homozygous missense variant, some functional data.
Sources: Literature
Mendeliome v1.120 RELN Zornitza Stark Publications for gene: RELN were set to 32001840
Mendeliome v1.119 RELN Zornitza Stark edited their review of gene: RELN: Added comment: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile. Additional 7 individuals from 4 families with bi-allelic variants.; Changed publications: 35769015
Mendeliome v1.119 TAF8 Zornitza Stark changed review comment from: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants.
Sources: Literature; to: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. Unclear if this is a founder variant, families of different ethnicities. One family with different compound heterozygous variants.
Sources: Literature
Mendeliome v1.119 TAF8 Zornitza Stark Tag founder was removed from gene: TAF8.
Mendeliome v1.119 TAF8 Zornitza Stark Marked gene: TAF8 as ready
Mendeliome v1.119 TAF8 Zornitza Stark Gene: taf8 has been classified as Green List (High Evidence).
Mendeliome v1.119 TAF8 Zornitza Stark Classified gene: TAF8 as Green List (high evidence)
Mendeliome v1.119 TAF8 Zornitza Stark Gene: taf8 has been classified as Green List (High Evidence).
Mendeliome v1.118 TAF8 Zornitza Stark gene: TAF8 was added
gene: TAF8 was added to Mendeliome. Sources: Literature
founder tags were added to gene: TAF8.
Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF8 were set to 29648665; 35759269
Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder, MONDO:0700092, TAF8-related
Review for gene: TAF8 was set to GREEN
Added comment: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants.
Sources: Literature
Mendeliome v1.117 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934) to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934); Spinocerebellar ataxia 25, MIM# 608703
Mendeliome v1.116 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to 31752325; 30244537; 28594066; 28645153; 33199448
Mendeliome v1.115 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.114 PNPT1 Zornitza Stark edited their review of gene: PNPT1: Added comment: Three families reported with heterozygous variants and SCA25. Incomplete penetrance in one of the families. In the third family, the variant was inherited from an asymptomatic 80+ year old. Note bi-allelic variants in this gene cause a mitochondrial disorder. Exact mechanism through which mono-allelic variants cause SCA25 not elucidated: authors speculate abnormal accumulation of mitochondrial RNA with subsequent leakage into the cytosol that may trigger a type 1 interferon response leading to neuroinflammation with neuronal dysfunction or neuronal loss.; Changed rating: AMBER; Changed publications: 35411967; Changed phenotypes: Spinocerebellar ataxia 25, MIM# 608703; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.114 TTC25 Arina Puzriakova reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486780, 31765523, 33715250, 33746037, 34215651; Phenotypes: Ciliary dyskinesia, primary, 35, OMIM:617092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.114 CXCR2 Zornitza Stark Classified gene: CXCR2 as Green List (high evidence)
Mendeliome v1.114 CXCR2 Zornitza Stark Gene: cxcr2 has been classified as Green List (High Evidence).
Mendeliome v1.113 CXCR2 Zornitza Stark edited their review of gene: CXCR2: Added comment: 4 unrelated patients with neutropaenia reported.; Changed rating: GREEN; Changed publications: 24777453, 34854278; Changed phenotypes: WHIM syndrome 2, MIM#619407
Mendeliome v1.113 RHOG Zornitza Stark Marked gene: RHOG as ready
Mendeliome v1.113 RHOG Zornitza Stark Gene: rhog has been classified as Amber List (Moderate Evidence).
Mendeliome v1.113 RHOG Zornitza Stark Classified gene: RHOG as Amber List (moderate evidence)
Mendeliome v1.113 RHOG Zornitza Stark Gene: rhog has been classified as Amber List (Moderate Evidence).
Mendeliome v1.112 RHOG Zornitza Stark gene: RHOG was added
gene: RHOG was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RHOG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHOG were set to 33513601
Phenotypes for gene: RHOG were set to Genetic HLH, MONDO:0015541, RHOG-related
Review for gene: RHOG was set to AMBER
Added comment: Single individual reported, extensive functional data supports gene-disease association.
Sources: Literature
Mendeliome v1.111 TNFSF13 Zornitza Stark Marked gene: TNFSF13 as ready
Mendeliome v1.111 TNFSF13 Zornitza Stark Gene: tnfsf13 has been classified as Red List (Low Evidence).
Mendeliome v1.111 TNFSF13 Zornitza Stark gene: TNFSF13 was added
gene: TNFSF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF13 were set to 32298700
Phenotypes for gene: TNFSF13 were set to Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related
Review for gene: TNFSF13 was set to RED
Added comment: Single individual, consanguineous parents.
Sources: Literature
Mendeliome v1.110 POU2AF1 Zornitza Stark Marked gene: POU2AF1 as ready
Mendeliome v1.110 POU2AF1 Zornitza Stark Gene: pou2af1 has been classified as Red List (Low Evidence).
Mendeliome v1.110 POU2AF1 Zornitza Stark gene: POU2AF1 was added
gene: POU2AF1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POU2AF1 were set to 33571536
Phenotypes for gene: POU2AF1 were set to Agammaglobulinaemia, MONDO:0015977, POU2AF1-related
Review for gene: POU2AF1 was set to RED
Added comment: Single individual from consanguineous parents lacking immunoglobulins despite normal total B-cell numbers.
Sources: Expert Review
Mendeliome v1.109 CD28 Zornitza Stark Marked gene: CD28 as ready
Mendeliome v1.109 CD28 Zornitza Stark Gene: cd28 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.109 CD28 Zornitza Stark Classified gene: CD28 as Amber List (moderate evidence)
Mendeliome v1.109 CD28 Zornitza Stark Gene: cd28 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.108 CD28 Zornitza Stark edited their review of gene: CD28: Changed rating: AMBER
Mendeliome v1.108 CD28 Zornitza Stark changed review comment from: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data.
Sources: Expert Review; to: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data. CD28-deficient mice are susceptible to cutaneous infections with the mouse papillomavirus MmuPV1.
Sources: Expert Review
Mendeliome v1.108 CD28 Zornitza Stark gene: CD28 was added
gene: CD28 was added to Mendeliome. Sources: Expert Review
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 Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs
Review for gene: CD28 was set to RED
Added comment: Rare homozygous CD28 variant segregates with severe verrucosis in three relatives and supportive functional data.
Sources: Expert Review
Mendeliome v1.107 IKZF3 Zornitza Stark Classified gene: IKZF3 as Green List (high evidence)
Mendeliome v1.107 IKZF3 Zornitza Stark Gene: ikzf3 has been classified as Green List (High Evidence).
Mendeliome v1.106 IKZF3 Zornitza Stark edited their review of gene: IKZF3: Added comment: Additional multigenerational family where novel missense variant segregated with disease in 4 individuals.; Changed rating: GREEN; Changed publications: 34155405, 34694366
Mendeliome v1.106 COPG1 Zornitza Stark Marked gene: COPG1 as ready
Mendeliome v1.106 COPG1 Zornitza Stark Gene: copg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.106 COPG1 Zornitza Stark Classified gene: COPG1 as Amber List (moderate evidence)
Mendeliome v1.106 COPG1 Zornitza Stark Gene: copg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.105 COPG1 Zornitza Stark edited their review of gene: COPG1: Changed rating: AMBER
Mendeliome v1.105 COPG1 Zornitza Stark gene: COPG1 was added
gene: COPG1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: COPG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPG1 were set to 33529166
Phenotypes for gene: COPG1 were set to Combined immunodeficiency MONDO:0015131, COPG1-related
Review for gene: COPG1 was set to RED
Added comment: Five Omani siblings, born to consanguineous parents, homozygous missense.

Homozygous Copg1K652E mice had increased ER stress in activated T and B cells, poor antibody responses, and normal numbers of T cells that proliferated normally, but underwent increased apoptosis upon activation. Exposure of the mutants to pet store mice caused weight loss, lymphopenia, and defective T cell proliferation that recapitulated the findings in the patients. The ER stress-relieving agent tauroursodeoxycholic acid corrected the immune defects of the mutants and reversed the phenotype they acquired following exposure to pet store mice.
Sources: Expert Review
Mendeliome v1.104 TSPAN7 Zornitza Stark Tag disputed was removed from gene: TSPAN7.
Mendeliome v1.104 TSPAN7 Zornitza Stark edited their review of gene: TSPAN7: Added comment: Two families reported with LoF variants and ID: Abidi FE et al. 2002 Jun (PMID:12070254); Zemni R et al. 2000 Feb (PMID:10655063)

Assessed as MODERATE by ClinGen.; Changed rating: AMBER; Changed publications: 12070254, 10655063
Mendeliome v1.104 TSPAN7 Zornitza Stark Tag disputed tag was added to gene: TSPAN7.
Mendeliome v1.104 TSPAN7 Zornitza Stark edited their review of gene: TSPAN7: Changed rating: RED
Mendeliome v1.104 IFNAR2 Zornitza Stark Publications for gene: IFNAR2 were set to 26424569
Mendeliome v1.103 IFNAR2 Zornitza Stark Classified gene: IFNAR2 as Green List (high evidence)
Mendeliome v1.103 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Green List (High Evidence).
Mendeliome v1.102 IFNAR2 Zornitza Stark edited their review of gene: IFNAR2: Added comment: Five children from Greenland, Canada, and Alaska presenting with viral diseases, including life-threatening COVID-19 or influenza, in addition to meningoencephalitis and/or hemophagocytic lymphohistiocytosis following live-attenuated viral vaccination; Changed rating: GREEN; Changed publications: 26424569, 35442417
Mendeliome v1.102 IFNAR1 Zornitza Stark Phenotypes for gene: IFNAR1 were changed from Severe disease caused by Yellow Fever vaccine and Measles vaccine to Immunodeficiency 106, susceptibility to viral infections, MIM# 619935; Severe disease caused by Yellow Fever vaccine and Measles vaccine
Mendeliome v1.101 IFNAR1 Zornitza Stark Publications for gene: IFNAR1 were set to 31270247
Mendeliome v1.100 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Green List (high evidence)
Mendeliome v1.100 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Green List (High Evidence).
Mendeliome v1.99 IFNAR1 Zornitza Stark edited their review of gene: IFNAR1: Changed rating: GREEN
Mendeliome v1.99 IFNAR1 Zornitza Stark edited their review of gene: IFNAR1: Added comment: Seven children from five unrelated kindreds; Changed publications: 31270247, 35442418; Changed phenotypes: Immunodeficiency 106, susceptibility to viral infections, MIM# 619935, Severe disease caused by Yellow Fever vaccine and Measles vaccine
Mendeliome v1.99 SLC26A1 Zornitza Stark Tag disputed tag was added to gene: SLC26A1.
Mendeliome v1.99 SLC26A1 Zornitza Stark Classified gene: SLC26A1 as Red List (low evidence)
Mendeliome v1.99 SLC26A1 Zornitza Stark Gene: slc26a1 has been classified as Red List (Low Evidence).
Mendeliome v1.98 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174 to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant
Mendeliome v1.97 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.96 NEK8 Zornitza Stark edited their review of gene: NEK8: Added comment: ESHG 2022: 12 families with paediatric renal cystic disease (enlarged kidneys, kidney cysts, ESKF <20yrs) -3 recurrent HTZ variants in NEK8 kinase domain (Arg45Trp, Ile150Met, Lys157Gln) -suspected dominant negative effect -patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8 (Note carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF); Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Familial renal cystic disease MONDO:0019741, NEK8-related, dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.96 DRD2 Zornitza Stark Phenotypes for gene: DRD2 were changed from to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems
Mendeliome v1.95 DRD2 Zornitza Stark Mode of pathogenicity for gene: DRD2 was changed from to Other
Mendeliome v1.94 DRD2 Zornitza Stark Mode of inheritance for gene: DRD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.93 DRD2 Zornitza Stark reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: Other; Publications: 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related, dystonia, chorea, anxiety, ataxia, orofacial dyskinesia, tremor, memory problems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.93 THSD1 Zornitza Stark Phenotypes for gene: THSD1 were changed from Aneurysm, intracranial berry, 12 , MIM# 618734 to Aneurysm, intracranial berry, 12 , MIM# 618734; Hydrops fetalis MONDO:0015193, THSD1-related
Mendeliome v1.92 THSD1 Zornitza Stark Publications for gene: THSD1 were set to 27895300
Mendeliome v1.91 THSD1 Zornitza Stark Classified gene: THSD1 as Green List (high evidence)
Mendeliome v1.91 THSD1 Zornitza Stark Gene: thsd1 has been classified as Green List (High Evidence).
Mendeliome v1.91 THSD1 Zornitza Stark Classified gene: THSD1 as Green List (high evidence)
Mendeliome v1.91 THSD1 Zornitza Stark Gene: thsd1 has been classified as Green List (High Evidence).
Mendeliome v1.90 TRPM3 Zornitza Stark Phenotypes for gene: TRPM3 were changed from Intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, TRPM3-related
Mendeliome v1.89 SLC26A1 Krithika Murali reviewed gene: SLC26A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Nephrolithiasis, calcium oxalate - MIM#167030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.89 DDR2 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a severe perinatal skeletal dysplasia.

Mono-allelic variants cause Warburg-Cinotti syndrome, which is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis. Four unrelated families reported with missense variants, which were activating.; to: Bi-allelic variants in this gene are associated with a severe perinatal skeletal dysplasia. LoF.

Mono-allelic variants cause Warburg-Cinotti syndrome, which is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis. Four unrelated families reported with missense variants, which were activating. GoF.
Mendeliome v1.89 TNNT1 Bryony Thompson Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, MIM# 605355 to Nemaline myopathy 5, Amish type, MIM# 605355; nemaline myopathy MONDO:0018958
Mendeliome v1.88 TNNT1 Bryony Thompson Publications for gene: TNNT1 were set to
Mendeliome v1.87 TNNT1 Bryony Thompson Added comment: Comment on mode of inheritance: There is emerging evidence for monoallelic mode of inheritance
Mendeliome v1.87 TNNT1 Bryony Thompson Mode of inheritance for gene: TNNT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.86 TNNT1 Bryony Thompson Mode of inheritance for gene: TNNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.85 TNNT1 Bryony Thompson reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29178646, 35510366; Phenotypes: nemaline myopathy MONDO:0018958; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.85 EPHA2 Elena Savva reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34638995, 19005574, 19649315, 19306328, 33671840; Phenotypes: Early-Onset Cataract, cataract 6 multiple types MONDO:0007288; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.85 GRIA1 Zornitza Stark edited their review of gene: GRIA1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 67, MIM# 619927, Intellectual developmental disorder, autosomal recessive 76, MIM# 619931
Mendeliome v1.85 GRIA1 Zornitza Stark Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931
Mendeliome v1.84 GRIA1 Zornitza Stark Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
Mendeliome v1.83 GRIA1 Zornitza Stark Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.82 GRIA1 Zornitza Stark edited their review of gene: GRIA1: Added comment: Single individual reported with bi-allelic LoF variant. RED/AMBER for bi-allelic variants.; Changed publications: 28628100, 23033978, 26350204, 24896178, 35675825; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.82 GRIA1 Zornitza Stark Phenotypes for gene: GRIA1 were changed from Intellectual disability; autism to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927
Mendeliome v1.81 GRIA1 Zornitza Stark edited their review of gene: GRIA1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 67, MIM# 619927
Mendeliome v1.81 MSH5 Zornitza Stark Phenotypes for gene: MSH5 were changed from Premature ovarian failure 13, MIM#617442; Premature ovarian failure 13, MIM#617442 to Spermatogenic failure 74, MIM# 619937; Premature ovarian failure 13, MIM#617442
Mendeliome v1.80 MSH5 Zornitza Stark reviewed gene: MSH5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 74, MIM# 619937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.80 MSH5 Zornitza Stark Phenotypes for gene: MSH5 were changed from Premature ovarian failure 13 MIM#617442 to Premature ovarian failure 13, MIM#617442; Premature ovarian failure 13, MIM#617442
Mendeliome v1.79 THSD1 Elena Savva reviewed gene: THSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33569873, 27895300; Phenotypes: Aneurysm, intracranial berry, 12 MIM# 618734, nonimmune hydrops fetalis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.79 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Hereditary spastic paraplegia MONDO:0019064, GCH1-related
Mendeliome v1.78 GCH1 Zornitza Stark Publications for gene: GCH1 were set to 7874165; 11113234; 15753436; 9667588; 10987649; 32170445; 32278297; 32746945; 30314816
Mendeliome v1.77 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21935284, 24509643, 33713342; Phenotypes: Hereditary spastic paraplegia MONDO:0019064, GCH1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.77 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant , MIM#619752, Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant, Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750
Mendeliome v1.77 SHQ1 Zornitza Stark Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to Dystonia 35, childhood-onset , MIM# 619921; Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Mendeliome v1.76 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Changed phenotypes: Dystonia 35, childhood-onset , MIM# 619921, Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Mendeliome v1.76 KCNA5 Zornitza Stark Classified gene: KCNA5 as Amber List (moderate evidence)
Mendeliome v1.76 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.75 KCNA5 Zornitza Stark edited their review of gene: KCNA5: Added comment: Multiple families reported. At least one with LoF variant, rest missense. The missense variants are present in the population, ranging from 2 to 40 individuals in gnomad, which raises doubt about their pathogenicity.; Changed rating: AMBER
Mendeliome v1.75 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835
Mendeliome v1.74 GATA1 Zornitza Stark Deleted their comment
Mendeliome v1.74 GATA1 Zornitza Stark edited their review of gene: GATA1: Added comment: Variants in GATA1 are associated with a number of haematological disorders, which probably represent a spectrum rather than distinct entities.; Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835
Mendeliome v1.74 NR4A2 Zornitza Stark Phenotypes for gene: NR4A2 were changed from Intellectual disability; epilepsy to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911
Mendeliome v1.73 NR4A2 Zornitza Stark edited their review of gene: NR4A2: Changed phenotypes: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911
Mendeliome v1.73 KCNA5 Chern Lim reviewed gene: KCNA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v1.73 KCNC2 Zornitza Stark Phenotypes for gene: KCNC2 were changed from epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome to Developmental and epileptic encephalopathy 103, MIM# 619913
Mendeliome v1.72 KCNC2 Zornitza Stark Publications for gene: KCNC2 were set to 32392612; 31972370
Mendeliome v1.71 KCNC2 Zornitza Stark Classified gene: KCNC2 as Green List (high evidence)
Mendeliome v1.71 KCNC2 Zornitza Stark Gene: kcnc2 has been classified as Green List (High Evidence).
Mendeliome v1.70 KCNC2 Zornitza Stark reviewed gene: KCNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314505; Phenotypes: Developmental and epileptic encephalopathy 103, MIM# 619913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.70 KCNJ1 Zornitza Stark Publications for gene: KCNJ1 were set to 28630040
Mendeliome v1.69 KCNJ1 Zornitza Stark reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841184, 19096086, 7635463, 12086641, 9580661, 12122007; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.69 ATP2B1 Zornitza Stark Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910
Mendeliome v1.68 ATP2B1 Zornitza Stark reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 66, MIM# 619910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.68 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Chorioretinal atrophy, progressive bifocal, MIM# 600790; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Chorioretinal atrophy, progressive bifocal, MIM# 600790; Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976
Mendeliome v1.67 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 30710461; 34730112; 35390279
Mendeliome v1.66 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Added comment: Note only single family reported with Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976 -- this likely lies on the same spectrum as Pontocerebellar hypoplasia, type 17, MIM# 619909 rather than being a distinct disorder.; Changed publications: 30710461, 34730112; Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790, Pontocerebellar hypoplasia, type 17, MIM# 619909, Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.66 TIAM1 Zornitza Stark Phenotypes for gene: TIAM1 were changed from Neurodevelopmental disorder, TIAM1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and seizures, MIM# 619908
Mendeliome v1.65 RBFOX2 Chern Lim changed review comment from: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.; to: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (1x nonsense, 1x frameshift, 1x canonical splice variants). All 3 probands have hypoplastic left heart syndrome (HLHS) and no extra-cardiac features. Same cohort later included in PMID: 32368696, listed one additional de novo variant in this gene (missense variant) in a patient with conotruncal defects (CTDs).

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.
Mendeliome v1.65 CSNK2B Bryony Thompson Phenotypes for gene: CSNK2B were changed from Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732; Craniodigital syndrome-intellectual disability syndrome MONDO:0015463
Mendeliome v1.64 CSNK2B Bryony Thompson Publications for gene: CSNK2B were set to 28585349; 28762608
Mendeliome v1.63 CSNK2B Bryony Thompson reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35571680; Phenotypes: Craniodigital syndrome-intellectual disability syndrome MONDO:0015463; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.63 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 to Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Mendeliome v1.62 SLC5A6 Zornitza Stark Publications for gene: SLC5A6 were set to 31754459; 27904971
Mendeliome v1.61 SLC5A6 Zornitza Stark changed review comment from: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature; to: Complex neurodegenerative disorder: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Mendeliome v1.61 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Added comment: PMID 35013551: 5 individuals from 3 unrelated families reported with predominantly neuropathy phenotype.; Changed publications: 31754459, 27904971, 35013551; Changed phenotypes: Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903, Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Mendeliome v1.61 SASH3 Zornitza Stark Phenotypes for gene: SASH3 were changed from Combined immunodeficiency; immune dysregulation to Immunodeficiency 102, MIM# 301082
Mendeliome v1.60 SASH3 Zornitza Stark edited their review of gene: SASH3: Changed phenotypes: Immunodeficiency 102, MIM# 301082
Mendeliome v1.60 BUB1 Elena Savva Classified gene: BUB1 as Amber List (moderate evidence)
Mendeliome v1.60 BUB1 Elena Savva Gene: bub1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.59 BUB1 Zornitza Stark reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, BUB1-related MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.59 BUB1 Zornitza Stark Classified gene: BUB1 as Amber List (moderate evidence)
Mendeliome v1.59 BUB1 Zornitza Stark Gene: bub1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.58 IREB2 Zornitza Stark Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Mendeliome v1.57 GIMAP6 Zornitza Stark Phenotypes for gene: GIMAP6 were changed from Autophagy, immune competence and inflammation to Autoinflammatory syndrome MONDO:0019751, GIMAP6-related
Mendeliome v1.56 GIMAP6 Zornitza Stark reviewed gene: GIMAP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome MONDO:0019751, GIMAP6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.56 BUB1 Elena Savva Classified gene: BUB1 as Red List (low evidence)
Mendeliome v1.56 BUB1 Elena Savva Gene: bub1 has been classified as Red List (Low Evidence).
Mendeliome v1.55 PAN2 Zornitza Stark Phenotypes for gene: PAN2 were changed from Neurodevelopmental disorder, MONDO:0700092, PAN2-related to Syndromic disease MONDO:0002254, PAN2-related
Mendeliome v1.54 PAN2 Zornitza Stark reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.54 PRPF8 Zornitza Stark Phenotypes for gene: PRPF8 were changed from Retinitis pigmentosa 13, MIM#600059 to Retinitis pigmentosa 13, MIM#600059; Neurodevelopmental disorder MONDO:0700092, PRPF8-related
Mendeliome v1.53 BUB1 Elena Savva Classified gene: BUB1 as Amber List (moderate evidence)
Mendeliome v1.53 BUB1 Elena Savva Gene: bub1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.52 RRM1 Seb Lunke Marked gene: RRM1 as ready
Mendeliome v1.52 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.52 BUB1 Zornitza Stark Marked gene: BUB1 as ready
Mendeliome v1.52 BUB1 Zornitza Stark Gene: bub1 has been classified as Green List (High Evidence).
Mendeliome v1.52 RRM1 Seb Lunke Classified gene: RRM1 as Amber List (moderate evidence)
Mendeliome v1.52 RRM1 Seb Lunke Added comment: Comment on list classification: 3 families but only 2 Hom variants, not convinced they are definitely unrelated. 4th probed inconclusive.
Mendeliome v1.52 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.52 BUB1 Zornitza Stark Phenotypes for gene: BUB1 were changed from Intellectual disability and microcephaly to Neurodevelopmental disorder, BUB1-related MONDO:0700092
Mendeliome v1.51 BUB1 Zornitza Stark Classified gene: BUB1 as Green List (high evidence)
Mendeliome v1.51 BUB1 Zornitza Stark Gene: bub1 has been classified as Green List (High Evidence).
Mendeliome v1.50 PAN2 Zornitza Stark Marked gene: PAN2 as ready
Mendeliome v1.50 PAN2 Zornitza Stark Gene: pan2 has been classified as Green List (High Evidence).
Mendeliome v1.50 PAN2 Zornitza Stark Classified gene: PAN2 as Green List (high evidence)
Mendeliome v1.50 PAN2 Zornitza Stark Gene: pan2 has been classified as Green List (High Evidence).
Mendeliome v1.49 RRM1 Daniel Flanagan gene: RRM1 was added
gene: RRM1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM1 were set to 35617047
Phenotypes for gene: RRM1 were set to Multiple mitochondrial DNA deletion syndrome (MONDO:0016797)
Review for gene: RRM1 was set to GREEN
Added comment: Homozygous missense were identified in 4 four probands (p.Arg381Cys or p.Arg381His) from three families, who presented with ptosis and ophthalmoplegia, plus other manifestations and multiple mtDNA deletions in muscle. Heterozygous carriers were unaffected. An additional proband was heterozygous for a different RRM1 missense (p.Asn427Lys), another variant not identified.
Sources: Expert list
Mendeliome v1.49 LMOD2 Seb Lunke Marked gene: LMOD2 as ready
Mendeliome v1.49 LMOD2 Seb Lunke Gene: lmod2 has been classified as Green List (High Evidence).
Mendeliome v1.49 LMOD2 Seb Lunke Phenotypes for gene: LMOD2 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
Mendeliome v1.48 ATOH1 Zornitza Stark Marked gene: ATOH1 as ready
Mendeliome v1.48 ATOH1 Zornitza Stark Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.48 LMOD2 Seb Lunke Classified gene: LMOD2 as Green List (high evidence)
Mendeliome v1.48 LMOD2 Seb Lunke Gene: lmod2 has been classified as Green List (High Evidence).
Mendeliome v1.47 PAN2 Naomi Baker gene: PAN2 was added
gene: PAN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to PMID:35304602; 29620724
Phenotypes for gene: PAN2 were set to Neurodevelopmental disorder, MONDO:0700092, PAN2-related
Review for gene: PAN2 was set to GREEN
Added comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck.

PMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system.
Sources: Literature
Mendeliome v1.47 PRPF8 Krithika Murali reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35543142; Phenotypes: Intellectual disability, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.47 ATOH1 Zornitza Stark Phenotypes for gene: ATOH1 were changed from Pontocerebellar hypoplasia; developmental delay; hearing loss to Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related
Mendeliome v1.46 ATOH1 Zornitza Stark Classified gene: ATOH1 as Amber List (moderate evidence)
Mendeliome v1.46 ATOH1 Zornitza Stark Gene: atoh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.46 PTPN13 Ain Roesley Marked gene: PTPN13 as ready
Mendeliome v1.46 PTPN13 Ain Roesley Gene: ptpn13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.46 PTPN13 Ain Roesley Classified gene: PTPN13 as Amber List (moderate evidence)
Mendeliome v1.46 PTPN13 Ain Roesley Gene: ptpn13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.45 PTPN13 Ain Roesley gene: PTPN13 was added
gene: PTPN13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN13 were set to 35643866
Phenotypes for gene: PTPN13 were set to bone marrow failure syndrome MONDO#0000159, PTPN13-related
Review for gene: PTPN13 was set to AMBER
gene: PTPN13 was marked as current diagnostic
Added comment: 2 families

Family A: 3 affecteds only 2 sequenced. Hom for a missense
3/3 Anaemia, 1x thrombocytopaenia, 1x severe neutropaenia, bone marrow with pure red cell aplasia
noted that the sibling who wasn't sequenced had normal bone marrow morphology

Family B: Chet for a missense and inframe del of 1 amino acid
Persistent hypogammaglobulinemia after transplant (at least 14 months after) with normal blood counts and Pre-B ALL with MLL rearrangement

In vitro studies of individual variants were LoF, including defective erythroid and megakaryocytic differentiation, consistent with anaemia and thrombocytopaenia reported in family A
Sources: Literature
Mendeliome v1.44 BUB1 Paul De Fazio edited their review of gene: BUB1: Changed phenotypes: Neurodevelopmental disorder, BUB1-related MONDO:0700092, Intellectual disability and microcephaly
Mendeliome v1.44 ATOH1 Chloe Stutterd gene: ATOH1 was added
gene: ATOH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATOH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATOH1 were set to 35518571
Phenotypes for gene: ATOH1 were set to Pontocerebellar hypoplasia; developmental delay; hearing loss
Penetrance for gene: ATOH1 were set to unknown
Review for gene: ATOH1 was set to AMBER
Added comment: Single report of novel homozygous missense variant in functional domain segregating with disease in two affected siblings with pontocerebellar hypoplasia, developmental delay and hearing loss. Similar phenotype previously reported in animal model with biallelic missense variant affecting same functional domain. Homology modelling predicts this missense variant affects binding capability of the bHLH domain to the DNA. Gene encodes a core transcription factor in developing cerebellum, brainstem, dorsal spinal cord and ear.
Sources: Literature
Mendeliome v1.44 BUB1 Paul De Fazio gene: BUB1 was added
gene: BUB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1 were set to 35044816; 19772675; 19117986; 23209306
Phenotypes for gene: BUB1 were set to Intellectual disability and microcephaly
Review for gene: BUB1 was set to GREEN
gene: BUB1 was marked as current diagnostic
Added comment: 2 unrelated patients with ID, microcephaly, short stature, dysmorphic features reported with biallelic variants:

P1 (3yo male): homozygous start-loss variant (2 hets and 0 hom in gnomAD). Functional testing showed a small amount of full-length protein was translated, and BUB1 recruitment to kinetochores was nearly undetectable.
P2 (16yo female): compound heterozygous for a canonical splice variant (1 het and no hom in gnomAD) and an NMD-predicted frameshift variant (absent from gnomAD). The splice variant was shown to result in an in-frame deletion of 54 amino acids in the kinase domain. P2 cells have reduced protein levels but essentially no kinase activity.

BUB1 patient cells have impaired mitotic fidelity.

Homozygous Bub1 disruption in mice is embryonic lethal (PMID:19772675). A hypomorphic mouse is viable with increased tumourigenesis with ageing and aneuploidy (PMID:19117986). A kinase-dead mouse does not show increased tumourigenesis but does have a high frequency of aneuploid cells (PMID:23209306)
Sources: Literature
Mendeliome v1.44 LMOD2 Melanie Marty gene: LMOD2 was added
gene: LMOD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD2 were set to PMID: 31517052; PMID: 34888509; PMID: 35082396; PMID: 35188328; PMID: 26487682
Phenotypes for gene: LMOD2 were set to Dilated cardiomyopathy
Review for gene: LMOD2 was set to GREEN
Added comment: 4 unrelated families with early onset dilated cardiomyopathy, autosomal recessive inheritance, functional studies showing loss of protein and a mouse model reported.

PMID: 31517052 1 x neonate with DCM, homozygous nonsense variant identified.

PMID: 34888509 2 x neonatal deaths (from 1 family) related to dilated cardiomyopathy (DCM), compound heterozygous loss-of-function variants identified.

PMID:35082396 2 x siblings with DCM who died shortly after birth due to heart failure, homozygous canonical splice variant identified. Functional studies show loss of donor site and loss of protein.

PMID: 35188328 1 x child (9 months) with DCM, with homozygous frameshift variant. Functional studies showed absence of LMOD2 protein (western blot).

PMID: 26487682 Lmod2 null (knockout) mice present with short cardiac thin filaments and die at ~3 weeks due to dysfunctional, dilated hearts
Sources: Literature
Mendeliome v1.44 SEMA6B Zornitza Stark Phenotypes for gene: SEMA6B were changed from Progressive myoclonic epilepsy to Progressive myoclonic epilepsy; Intellectual disability, MONDO:0001071, SEMA6B related
Mendeliome v1.43 SRRM2 Zornitza Stark Phenotypes for gene: SRRM2 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092 SRRM2-related
Mendeliome v1.42 SEMA6B Zornitza Stark Publications for gene: SEMA6B were set to 32169168
Mendeliome v1.41 SEMA6B Dean Phelan Deleted their comment
Mendeliome v1.41 SRRM2 Zornitza Stark Classified gene: SRRM2 as Green List (high evidence)
Mendeliome v1.41 SRRM2 Zornitza Stark Gene: srrm2 has been classified as Green List (High Evidence).
Mendeliome v1.40 SEMA6B Dean Phelan commented on gene: SEMA6B: PMID: 35604360
- 14 heterozygous variants were observed in 16 unrelated individuals referred for intellectual disability. Majority of the variants 9/14 were PTCs in the last exon and predicted to escape NMD. Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function.
Mendeliome v1.40 SEMA6B Dean Phelan reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35604360; Phenotypes: Intellectual disability, MONDO:0001071, SEMA6B related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.40 GIMAP6 Elena Savva Marked gene: GIMAP6 as ready
Mendeliome v1.40 GIMAP6 Elena Savva Gene: gimap6 has been classified as Green List (High Evidence).
Mendeliome v1.40 GIMAP6 Elena Savva Classified gene: GIMAP6 as Green List (high evidence)
Mendeliome v1.40 GIMAP6 Elena Savva Gene: gimap6 has been classified as Green List (High Evidence).
Mendeliome v1.39 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related to Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related
Mendeliome v1.38 HEATR3 Zornitza Stark Marked gene: HEATR3 as ready
Mendeliome v1.38 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Mendeliome v1.38 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from DiMONDO:0015253 to Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related
Mendeliome v1.37 IREB2 Lucy Spencer reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35602653; Phenotypes: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.37 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability to DiMONDO:0015253
Mendeliome v1.36 SRRM2 Michelle Torres reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35567594; Phenotypes: neurodevelopmental disorder MONDO:0700092 SRRM2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.36 HEATR3 Zornitza Stark Classified gene: HEATR3 as Green List (high evidence)
Mendeliome v1.36 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Mendeliome v1.35 GIMAP6 Elena Savva gene: GIMAP6 was added
gene: GIMAP6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIMAP6 were set to PMID: 35551368; 33328581
Phenotypes for gene: GIMAP6 were set to Autophagy, immune competence and inflammation
Review for gene: GIMAP6 was set to AMBER
Added comment: PMID: 35551368, PMID: 33328581
- K/O mice show autophagy, redox regulation, and polyunsaturated fatty acid (PUFA)–containing lipids and die prematurely from microangiopathic glomerulosclerosis with immunodeficiency.
- 2 unrelated families (3 patients) w/ a homozygous missense (p.Gly153Val) and nonsense (p.Trp86*). All unaffected siblings were heterozygous.
Patient 1 (missense) presented with Coombs-positive hemolytic anemia, hepatosplenomegaly, Cranial MRI showed bilateral effusions, sulcal hyperintensity, and lateral parietal subcortical acute focal ischemic lesions.
Patient 2 (nonsense) presented with recurrent purulent otitis media and a chronic wet cough, persistent jaundice, recurrent chest and ear infections, lingular consolidation, mild bronchiectasis, bibasilar bronchial wall thickening, right peribronchial consolidation, right lower lobe bronchiectasis, bilateral axillary lymphadenopathy, and splenomegaly.
Patient 3 (nonsense) presented with suffered headaches, abdomen pain, mouth ulcers, and recurrent infections

- Functional studies show patient 1 (missense) with reduced protein expression on western blot, and patient 2/3 (nonsense) with no protein expression. T cells of Pt 1 were similar to mouse K/O model (elevated basal LC3-II, reduced autophagic flux).

gnomAD: 0 homozygous PTCs, but a very common canonical splice which is present in the non-canonical transcript
Sources: Literature
Mendeliome v1.34 HEATR3 Chern Lim gene: HEATR3 was added
gene: HEATR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to PMID: 35213692
Phenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability
Review for gene: HEATR3 was set to GREEN
gene: HEATR3 was marked as current diagnostic
Added comment: PMID: 35213692:
- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.
- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.
Sources: Literature
Mendeliome v1.34 TRIM47 Zornitza Stark Marked gene: TRIM47 as ready
Mendeliome v1.34 TRIM47 Zornitza Stark Gene: trim47 has been classified as Red List (Low Evidence).
Mendeliome v1.34 TRIM47 Zornitza Stark gene: TRIM47 was added
gene: TRIM47 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRIM47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM47 were set to 35511193
Phenotypes for gene: TRIM47 were set to Genetic cerebral small vessel disease MONDO:0018787
Review for gene: TRIM47 was set to RED
Added comment: GWAS data: Combined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. Observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-mediated knockdown in human brain endothelial cells showed increased endothelial permeability, an important hallmark of cerebral small vessel disease pathology.
Sources: Literature
Mendeliome v1.33 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Chorioretinal atrophy, progressive bifocal, MIM# 600790; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Mendeliome v1.32 HIST1H4J Zornitza Stark Phenotypes for gene: HIST1H4J were changed from microcephaly; intellectual disability; dysmorphic features to Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759
Mendeliome v1.31 HIST1H4J Zornitza Stark edited their review of gene: HIST1H4J: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759
Mendeliome v1.31 MESP1 Zornitza Stark Phenotypes for gene: MESP1 were changed from Congenital heart disease to Congenital heart disease MONDO:0005453
Mendeliome v1.30 DNM2 Zornitza Stark Mode of inheritance for gene: DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.29 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; hereditary motor neuropathy
Mendeliome v1.28 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Added comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans. Xie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation. Van de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat.; Changed publications: 20493457, 22258530, 32811770, 35150594, 34526651, 31515523; Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.28 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, U2AF2-related
Mendeliome v1.27 MMGT1 Zornitza Stark Phenotypes for gene: MMGT1 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Mendeliome v1.26 MSX1 Zornitza Stark Publications for gene: MSX1 were set to 33419968, 33708320, 32192766
Mendeliome v1.25 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Mendeliome v1.24 LRP2 Zornitza Stark Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.23 AURKC Zornitza Stark Publications for gene: AURKC were set to
Mendeliome v1.22 AURKC Zornitza Stark Classified gene: AURKC as Green List (high evidence)
Mendeliome v1.22 AURKC Zornitza Stark Gene: aurkc has been classified as Green List (High Evidence).
Mendeliome v1.21 AURKC Zornitza Stark reviewed gene: AURKC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21733974, 19147683; Phenotypes: Spermatogenic failure 5 , OMIM #243060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.21 GJA5 Zornitza Stark Classified gene: GJA5 as Amber List (moderate evidence)
Mendeliome v1.21 GJA5 Zornitza Stark Gene: gja5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.20 GJA5 Zornitza Stark reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.20 GINS1 Zornitza Stark Phenotypes for gene: GINS1 were changed from to Immunodeficiency 55, OMIM #617827
Mendeliome v1.19 ATG16L1 Zornitza Stark reviewed gene: ATG16L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.19 PLCH1 Zornitza Stark Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895
Mendeliome v1.18 PLCH1 Zornitza Stark reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.18 TULP3 Zornitza Stark Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Mendeliome v1.17 TULP3 Zornitza Stark reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.17 IKBKG Zornitza Stark edited their review of gene: IKBKG: Changed publications: 31874111, 35289316
Mendeliome v1.17 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Mendeliome v1.16 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300 to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081
Mendeliome v1.15 IKBKG Zornitza Stark edited their review of gene: IKBKG: Added comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.; Changed phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081
Mendeliome v1.15 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Mendeliome v1.15 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Mendeliome v1.14 MYO9A Zornitza Stark edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER
Mendeliome v1.14 SLC38A3 Zornitza Stark Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881
Mendeliome v1.13 SLC38A3 Zornitza Stark reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.13 FAT2 Elena Savva Publications for gene: FAT2 were set to 29053796
Mendeliome v1.13 FAT2 Elena Savva Classified gene: FAT2 as Green List (high evidence)
Mendeliome v1.13 FAT2 Elena Savva Gene: fat2 has been classified as Green List (High Evidence).
Mendeliome v1.12 FAT2 Elena Savva reviewed gene: FAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33884300, 29053796; Phenotypes: Spinocerebellar ataxia 45, MIM#617769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.12 GFRA1 Zornitza Stark Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887
Mendeliome v1.11 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Changed phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887
Mendeliome v1.11 COPB2 Zornitza Stark Phenotypes for gene: COPB2 were changed from Microcephaly 19, primary, autosomal recessive, MIM# 617800; Osteoporosis and developmental delay to Microcephaly 19, primary, autosomal recessive, MIM# 617800; Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Mendeliome v1.10 ATP13A3 Zornitza Stark Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400
Mendeliome v1.9 ATP13A3 Zornitza Stark edited their review of gene: ATP13A3: Changed phenotypes: Primary pulmonary hypertension 5, MIM#265400
Mendeliome v1.9 RBFOX2 Zornitza Stark Marked gene: RBFOX2 as ready
Mendeliome v1.9 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.9 RBFOX2 Zornitza Stark Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) to Hypoplastic left heart syndrome (HLHS) MONDO:0004933
Mendeliome v1.8 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Amber List (moderate evidence)
Mendeliome v1.8 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.7 PROSER1 Zornitza Stark Marked gene: PROSER1 as ready
Mendeliome v1.7 PROSER1 Zornitza Stark Gene: proser1 has been classified as Red List (Low Evidence).
Mendeliome v1.7 PROSER1 Zornitza Stark gene: PROSER1 was added
gene: PROSER1 was added to Mendeliome. Sources: Expert Review
founder tags were added to gene: PROSER1.
Mode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROSER1 were set to 35229282
Phenotypes for gene: PROSER1 were set to Syndromic disease MONDO:0002254, PROSER1-related
Review for gene: PROSER1 was set to RED
Added comment: 4 children from 3 related families with developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, genitourinary malformations, and common facial features (arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing). WES revealed a homozygous frame-shift variant (p.Thr612Glnfs*22) in PROSER1. This encodes the proline and serine rich protein 1, part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation. No functional assays and 3 related families, likely founder effect.
Sources: Expert Review
Mendeliome v1.6 SPATA22 Zornitza Stark Marked gene: SPATA22 as ready
Mendeliome v1.6 SPATA22 Zornitza Stark Gene: spata22 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.6 SPATA22 Zornitza Stark Classified gene: SPATA22 as Amber List (moderate evidence)
Mendeliome v1.6 SPATA22 Zornitza Stark Gene: spata22 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.5 SPATA22 Zornitza Stark gene: SPATA22 was added
gene: SPATA22 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SPATA22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA22 were set to 35285020
Phenotypes for gene: SPATA22 were set to Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143
Review for gene: SPATA22 was set to AMBER
Added comment: 1 consanguineous family with two premature ovarian insufficiency (POI) and two nonobstructive azoospermia (NOA) patients. WES identified a homozygous variant in SPATA22 (c.400C>T:p.R134X). Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA. 2nd patient found with idiopathic POI and compound heterozygous variants in SPATA22 (c.900+1G>A and c.31C>T:p.R11X).
Sources: Expert Review
Mendeliome v1.4 RDH11 Zornitza Stark Classified gene: RDH11 as Amber List (moderate evidence)
Mendeliome v1.4 RDH11 Zornitza Stark Gene: rdh11 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3 RDH11 Zornitza Stark edited their review of gene: RDH11: Added comment: 2nd case reported: 1 Chinese patient with retinitis pigmentosa, juvenile cataracts, intellectual disability, and myopathy. Trio-based WES and whole genomic CNV detection found compound heterozygous variants in RDH11 (p.Leu313Pro and c.75-3C>A) with biparental inheritance. Variant c.75-3C>A was confirmed to be a splice-site mutation by cDNA sequencing. It caused exon 2 skipping, resulting in a frameshift mutation and premature translation termination (p.Lys26Serfs*38). They found mislocalization of RDH11 protein in muscle cells of the patient by using immunofluorescence staining. Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family with eye and intelligence involvement has been reported.; Changed rating: AMBER; Changed publications: 24916380, 15634683, 30731079, 18326732, 34988992
Mendeliome v1.3 ETV2 Ain Roesley changed review comment from: 1 family with 4 fetus-es, cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Literature; to: 1 family with 4 fetus-es all cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Literature
Mendeliome v1.3 PCDHGC4 Zornitza Stark Phenotypes for gene: PCDHGC4 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Mendeliome v1.2 PCDHGC4 Zornitza Stark edited their review of gene: PCDHGC4: Changed phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Mendeliome v1.2 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Mendeliome v1.1 POLR3F Zornitza Stark Phenotypes for gene: POLR3F were changed from Severe VZV infection to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Mendeliome v1.0 POLR3F Zornitza Stark edited their review of gene: POLR3F: Changed phenotypes: Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Mendeliome v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.14798 GLRX3 Zornitza Stark Marked gene: GLRX3 as ready
Mendeliome v0.14798 GLRX3 Zornitza Stark Gene: glrx3 has been classified as Red List (Low Evidence).
Mendeliome v0.14798 GLRX3 Zornitza Stark Publications for gene: GLRX3 were set to
Mendeliome v0.14797 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Mendeliome v0.14797 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Mendeliome v0.14797 DNM1L Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR); Optic atrophy 5 - MIM#610708 (AD)
Mendeliome v0.14796 DNM1L Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14795 DNASE1L3 Zornitza Stark Marked gene: DNASE1L3 as ready
Mendeliome v0.14795 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Mendeliome v0.14795 DNASE1L3 Zornitza Stark Phenotypes for gene: DNASE1L3 were changed from to Systemic lupus erythematosus 16 - MIM#614420
Mendeliome v0.14794 DNASE1 Zornitza Stark Marked gene: DNASE1 as ready
Mendeliome v0.14794 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Mendeliome v0.14794 DNASE1L3 Zornitza Stark Publications for gene: DNASE1L3 were set to
Mendeliome v0.14793 DNASE1L3 Zornitza Stark Mode of inheritance for gene: DNASE1L3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14792 DNASE1 Zornitza Stark Phenotypes for gene: DNASE1 were changed from to {Systemic lupus erythematosus, susceptibility to} - MIM#152700
Mendeliome v0.14791 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Mendeliome v0.14791 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Green List (High Evidence).
Mendeliome v0.14791 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19a, juvenile-onset - MIM#615528; Parkinson disease 19b, early-onset - MIM#615528
Mendeliome v0.14790 DNASE1 Zornitza Stark Mode of inheritance for gene: DNASE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14789 DNAJC6 Zornitza Stark Publications for gene: DNAJC6 were set to
Mendeliome v0.14788 DNASE1 Zornitza Stark Classified gene: DNASE1 as Red List (low evidence)
Mendeliome v0.14788 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Mendeliome v0.14787 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14786 DNAJC5 Zornitza Stark Marked gene: DNAJC5 as ready
Mendeliome v0.14786 DNAJC5 Zornitza Stark Gene: dnajc5 has been classified as Green List (High Evidence).
Mendeliome v0.14786 DNAJC5 Zornitza Stark Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350; ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083
Mendeliome v0.14785 DNAJC5 Zornitza Stark Publications for gene: DNAJC5 were set to
Mendeliome v0.14784 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Mendeliome v0.14784 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Green List (High Evidence).
Mendeliome v0.14784 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192
Mendeliome v0.14783 DNAJC5 Zornitza Stark Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14783 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to
Mendeliome v0.14782 DNAJC3 Zornitza Stark Mode of inheritance for gene: DNAJC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14781 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Mendeliome v0.14781 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Mendeliome v0.14781 DNAJC21 Zornitza Stark Phenotypes for gene: DNAJC21 were changed from to Bone marrow failure syndrome 3 - MIM#617052
Mendeliome v0.14780 DNAJC21 Zornitza Stark Publications for gene: DNAJC21 were set to
Mendeliome v0.14779 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Mendeliome v0.14779 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Mendeliome v0.14779 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Mendeliome v0.14778 DNM2 Zornitza Stark Publications for gene: DNM2 were set to
Mendeliome v0.14777 DNM2 Zornitza Stark Mode of inheritance for gene: DNM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14776 DNAJC21 Zornitza Stark Mode of inheritance for gene: DNAJC21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14775 DPY19L2 Zornitza Stark Marked gene: DPY19L2 as ready
Mendeliome v0.14775 DPY19L2 Zornitza Stark Gene: dpy19l2 has been classified as Green List (High Evidence).
Mendeliome v0.14775 DPY19L2 Zornitza Stark Phenotypes for gene: DPY19L2 were changed from to Spermatogenic failure 9 - MIM#613958
Mendeliome v0.14774 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Mendeliome v0.14774 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence).
Mendeliome v0.14774 DPY19L2 Zornitza Stark Mode of inheritance for gene: DPY19L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14773 AVP Zornitza Stark Marked gene: AVP as ready
Mendeliome v0.14773 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Mendeliome v0.14773 AVP Zornitza Stark Phenotypes for gene: AVP were changed from to Diabetes insipidus, neurohypophyseal MIM#125700
Mendeliome v0.14772 DRAM2 Zornitza Stark Marked gene: DRAM2 as ready
Mendeliome v0.14772 DRAM2 Zornitza Stark Gene: dram2 has been classified as Green List (High Evidence).
Mendeliome v0.14772 DRAM2 Zornitza Stark Phenotypes for gene: DRAM2 were changed from to Cone-rod dystrophy 21 - MIM#616502
Mendeliome v0.14771 AVP Zornitza Stark Publications for gene: AVP were set to
Mendeliome v0.14770 DRAM2 Zornitza Stark Publications for gene: DRAM2 were set to
Mendeliome v0.14769 DRAM2 Zornitza Stark Mode of inheritance for gene: DRAM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14768 AVP Zornitza Stark Mode of inheritance for gene: AVP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14767 DRD2 Zornitza Stark Marked gene: DRD2 as ready
Mendeliome v0.14767 DRD2 Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence).
Mendeliome v0.14767 ATP6V1E1 Zornitza Stark Marked gene: ATP6V1E1 as ready
Mendeliome v0.14767 ATP6V1E1 Zornitza Stark Gene: atp6v1e1 has been classified as Green List (High Evidence).
Mendeliome v0.14767 ATP6V1E1 Zornitza Stark Phenotypes for gene: ATP6V1E1 were changed from to Cutis laxa, autosomal recessive, type IIC MIM#617402
Mendeliome v0.14766 ATP6V1E1 Zornitza Stark Publications for gene: ATP6V1E1 were set to
Mendeliome v0.14765 DRD2 Zornitza Stark Classified gene: DRD2 as Red List (low evidence)
Mendeliome v0.14765 DRD2 Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence).
Mendeliome v0.14764 DRD3 Zornitza Stark Marked gene: DRD3 as ready
Mendeliome v0.14764 DRD3 Zornitza Stark Gene: drd3 has been classified as Red List (Low Evidence).
Mendeliome v0.14764 ATP6V1E1 Zornitza Stark Mode of inheritance for gene: ATP6V1E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14763 DRD3 Zornitza Stark Phenotypes for gene: DRD3 were changed from to {Essential tremor, hereditary, 1} - MIM#190300; {Schizophrenia, susceptibility to} - MIM#181500
Mendeliome v0.14762 DRD3 Zornitza Stark Mode of inheritance for gene: DRD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14761 DRD3 Zornitza Stark Classified gene: DRD3 as Red List (low evidence)
Mendeliome v0.14761 DRD3 Zornitza Stark Gene: drd3 has been classified as Red List (Low Evidence).
Mendeliome v0.14760 ATP2A1 Zornitza Stark Marked gene: ATP2A1 as ready
Mendeliome v0.14760 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Green List (High Evidence).
Mendeliome v0.14760 ATP2A1 Zornitza Stark Phenotypes for gene: ATP2A1 were changed from to Brody myopathy, OMIM # 601003
Mendeliome v0.14759 ATP2A1 Zornitza Stark Publications for gene: ATP2A1 were set to
Mendeliome v0.14758 DSC3 Zornitza Stark Marked gene: DSC3 as ready
Mendeliome v0.14758 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14758 DSC3 Zornitza Stark Phenotypes for gene: DSC3 were changed from to Hypotrichosis and recurrent skin vesicles MIM#613102
Mendeliome v0.14757 ATP2A1 Zornitza Stark Mode of inheritance for gene: ATP2A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14756 DSC3 Zornitza Stark Publications for gene: DSC3 were set to
Mendeliome v0.14755 ADD1 Zornitza Stark Marked gene: ADD1 as ready
Mendeliome v0.14755 ADD1 Zornitza Stark Gene: add1 has been classified as Green List (High Evidence).
Mendeliome v0.14755 DSC3 Zornitza Stark Mode of inheritance for gene: DSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14755 ADD1 Zornitza Stark Phenotypes for gene: ADD1 were changed from Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM # to Neurodevelopmental disorder MONDO:0700092, ADD1-related
Mendeliome v0.14754 DSC3 Zornitza Stark Classified gene: DSC3 as Amber List (moderate evidence)
Mendeliome v0.14754 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14753 DSCAM Zornitza Stark Marked gene: DSCAM as ready
Mendeliome v0.14753 DSCAM Zornitza Stark Gene: dscam has been classified as Green List (High Evidence).
Mendeliome v0.14753 DSCAM Zornitza Stark Phenotypes for gene: DSCAM were changed from to Autism MONDO:0005260
Mendeliome v0.14752 DSCAM Zornitza Stark Publications for gene: DSCAM were set to
Mendeliome v0.14751 DSCAM Zornitza Stark Classified gene: DSCAM as Green List (high evidence)
Mendeliome v0.14751 DSCAM Zornitza Stark Gene: dscam has been classified as Green List (High Evidence).
Mendeliome v0.14750 DSCAM Zornitza Stark Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14749 DSCAM Zornitza Stark Classified gene: DSCAM as Amber List (moderate evidence)
Mendeliome v0.14749 DSCAM Zornitza Stark Gene: dscam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14748 DSE Zornitza Stark Marked gene: DSE as ready
Mendeliome v0.14748 DSE Zornitza Stark Gene: dse has been classified as Green List (High Evidence).
Mendeliome v0.14748 DSE Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539
Mendeliome v0.14747 DSE Zornitza Stark Publications for gene: DSE were set to
Mendeliome v0.14746 DSE Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14745 DSG4 Zornitza Stark Marked gene: DSG4 as ready
Mendeliome v0.14745 DSG4 Zornitza Stark Gene: dsg4 has been classified as Green List (High Evidence).
Mendeliome v0.14745 DSG4 Zornitza Stark Phenotypes for gene: DSG4 were changed from to Hypotrichosis 6 - MIM#607903
Mendeliome v0.14744 DSG4 Zornitza Stark Publications for gene: DSG4 were set to
Mendeliome v0.14743 DSG4 Zornitza Stark Mode of inheritance for gene: DSG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14742 DSPP Zornitza Stark Marked gene: DSPP as ready
Mendeliome v0.14742 DSPP Zornitza Stark Gene: dspp has been classified as Green List (High Evidence).
Mendeliome v0.14742 DSPP Zornitza Stark Phenotypes for gene: DSPP were changed from to Deafness, autosomal dominant 39, with dentinogenesis - MIM#605594; Dentin dysplasia, type II - MIM#125420; Dentinogenesis imperfecta, Shields type II - MIM#125490; Dentinogenesis imperfecta, Shields type III - MIM#125500
Mendeliome v0.14741 DSPP Zornitza Stark Mode of inheritance for gene: DSPP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14740 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Mendeliome v0.14740 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Mendeliome v0.14740 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from to Thyroid dyshormonogenesis 6 - MIM#607200
Mendeliome v0.14739 DUOX2 Zornitza Stark Mode of inheritance for gene: DUOX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14738 GDNF Elena Savva Marked gene: GDNF as ready
Mendeliome v0.14738 GDNF Elena Savva Gene: gdnf has been classified as Red List (Low Evidence).
Mendeliome v0.14738 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Mendeliome v0.14738 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Mendeliome v0.14738 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from to Thyroid dyshormonogenesis 5 - MIM#274900
Mendeliome v0.14737 DUOXA2 Zornitza Stark Mode of inheritance for gene: DUOXA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14736 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Mendeliome v0.14736 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPOR Zornitza Stark Marked gene: EPOR as ready
Mendeliome v0.14736 EPOR Zornitza Stark Gene: epor has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPRS Zornitza Stark Marked gene: EPRS as ready
Mendeliome v0.14736 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Mendeliome v0.14736 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from to Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428
Mendeliome v0.14735 EPS8 Zornitza Stark Publications for gene: EPS8 were set to
Mendeliome v0.14734 EPS8 Zornitza Stark Mode of inheritance for gene: EPS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14733 ETFB Zornitza Stark Marked gene: ETFB as ready
Mendeliome v0.14733 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Mendeliome v0.14733 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
Mendeliome v0.14732 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Mendeliome v0.14732 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Mendeliome v0.14732 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from to hereditary multiple osteochondromas MONDO:0005508; exostoses, multiple, type 1 MONDO:0007585
Mendeliome v0.14731 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Mendeliome v0.14731 EYA4 Zornitza Stark Gene: eya4 has been classified as Green List (High Evidence).
Mendeliome v0.14731 EYS Zornitza Stark Marked gene: EYS as ready
Mendeliome v0.14731 EYS Zornitza Stark Gene: eys has been classified as Green List (High Evidence).
Mendeliome v0.14731 EYS Zornitza Stark Phenotypes for gene: EYS were changed from to Retinitis pigmentosa 25 MONDO:0011272
Mendeliome v0.14730 EYS Zornitza Stark Publications for gene: EYS were set to
Mendeliome v0.14729 EYS Zornitza Stark Mode of inheritance for gene: EYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14728 FXR1 Zornitza Stark Marked gene: FXR1 as ready
Mendeliome v0.14728 FXR1 Zornitza Stark Gene: fxr1 has been classified as Green List (High Evidence).
Mendeliome v0.14728 ETV2 Ain Roesley Marked gene: ETV2 as ready
Mendeliome v0.14728 ETV2 Ain Roesley Gene: etv2 has been classified as Red List (Low Evidence).
Mendeliome v0.14728 ETV2 Ain Roesley gene: ETV2 was added
gene: ETV2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETV2 were set to 33359164
Phenotypes for gene: ETV2 were set to multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations
Review for gene: ETV2 was set to RED
gene: ETV2 was marked as current diagnostic
Added comment: 1 family with 4 fetus-es, cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Literature
Mendeliome v0.14727 GABRB2 Zornitza Stark Marked gene: GABRB2 as ready
Mendeliome v0.14727 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Mendeliome v0.14727 GABRB2 Zornitza Stark Publications for gene: GABRB2 were set to
Mendeliome v0.14726 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Mendeliome v0.14726 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Mendeliome v0.14726 GALNT2 Zornitza Stark Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation MONDO:0015286
Mendeliome v0.14725 GALNT3 Zornitza Stark Marked gene: GALNT3 as ready
Mendeliome v0.14725 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Mendeliome v0.14725 GALNT3 Zornitza Stark Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Mendeliome v0.14724 GALNT3 Zornitza Stark Publications for gene: GALNT3 were set to
Mendeliome v0.14723 GALNT3 Zornitza Stark Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14722 GALT Zornitza Stark Marked gene: GALT as ready
Mendeliome v0.14722 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Mendeliome v0.14722 GALT Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosaemia MIM#230400; Disorders of galactose metabolism
Mendeliome v0.14721 GALT Zornitza Stark Publications for gene: GALT were set to
Mendeliome v0.14720 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14719 GAMT Zornitza Stark Marked gene: GAMT as ready
Mendeliome v0.14719 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Mendeliome v0.14719 GAMT Zornitza Stark Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Mendeliome v0.14718 GAMT Zornitza Stark Publications for gene: GAMT were set to
Mendeliome v0.14717 GAMT Zornitza Stark Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14716 GAN Zornitza Stark Marked gene: GAN as ready
Mendeliome v0.14716 GAN Zornitza Stark Gene: gan has been classified as Green List (High Evidence).
Mendeliome v0.14716 GAN Zornitza Stark Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, MIM# 256850
Mendeliome v0.14715 GAN Zornitza Stark Publications for gene: GAN were set to
Mendeliome v0.14714 GAN Zornitza Stark Mode of inheritance for gene: GAN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14713 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Mendeliome v0.14713 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Mendeliome v0.14713 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737
Mendeliome v0.14712 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Mendeliome v0.14711 GBA2 Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14710 GCDH Zornitza Stark Marked gene: GCDH as ready
Mendeliome v0.14710 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Mendeliome v0.14710 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from to Glutaric aciduria, type I MIM#231670; Organic acidurias
Mendeliome v0.14709 GCDH Zornitza Stark Publications for gene: GCDH were set to
Mendeliome v0.14708 GCDH Zornitza Stark Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14707 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Mendeliome v0.14707 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Mendeliome v0.14707 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Mendeliome v0.14706 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Mendeliome v0.14705 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14704 GCK Zornitza Stark Marked gene: GCK as ready
Mendeliome v0.14704 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Mendeliome v0.14704 GCK Zornitza Stark Phenotypes for gene: GCK were changed from to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Mendeliome v0.14703 GCK Zornitza Stark Publications for gene: GCK were set to
Mendeliome v0.14702 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14701 GCNT2 Zornitza Stark Marked gene: GCNT2 as ready
Mendeliome v0.14701 GCNT2 Zornitza Stark Gene: gcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.14701 GDNF Elena Savva Phenotypes for gene: GDNF were changed from to {Hirschsprung disease, susceptibility to, 3} MIM#613711
Mendeliome v0.14700 GCNT2 Zornitza Stark Phenotypes for gene: GCNT2 were changed from to Cataract 13 with adult i phenotype, OMIM # 116700
Mendeliome v0.14700 GDNF Elena Savva Publications for gene: GDNF were set to
Mendeliome v0.14700 GDNF Elena Savva Mode of inheritance for gene: GDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14699 GCNT2 Zornitza Stark Publications for gene: GCNT2 were set to
Mendeliome v0.14698 GCNT2 Zornitza Stark Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14697 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Mendeliome v0.14697 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Mendeliome v0.14697 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# 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
Mendeliome v0.14696 ATPAF2 Elena Savva Mode of inheritance for gene: ATPAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14695 GATAD1 Elena Savva Phenotypes for gene: GATAD1 were changed from to ?Cardiomyopathy, dilated, 2B MIM#614672
Mendeliome v0.14694 GATAD1 Elena Savva Marked gene: GATAD1 as ready
Mendeliome v0.14694 GATAD1 Elena Savva Gene: gatad1 has been classified as Red List (Low Evidence).
Mendeliome v0.14694 GATAD1 Elena Savva Publications for gene: GATAD1 were set to
Mendeliome v0.14694 GATAD1 Elena Savva Mode of inheritance for gene: GATAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14693 FBXW4 Elena Savva Marked gene: FBXW4 as ready
Mendeliome v0.14693 FBXW4 Elena Savva Gene: fbxw4 has been classified as Red List (Low Evidence).
Mendeliome v0.14693 AURKC Elena Savva Phenotypes for gene: AURKC were changed from to Spermatogenic failure 5 MIM #243060
Mendeliome v0.14692 AURKC Elena Savva Marked gene: AURKC as ready
Mendeliome v0.14692 AURKC Elena Savva Gene: aurkc has been classified as Red List (Low Evidence).
Mendeliome v0.14692 AURKC Elena Savva Mode of inheritance for gene: AURKC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14691 ATPAF2 Elena Savva Marked gene: ATPAF2 as ready
Mendeliome v0.14691 ATPAF2 Elena Savva Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14691 ATP2C2 Elena Savva Marked gene: ATP2C2 as ready
Mendeliome v0.14691 ATP2C2 Elena Savva Gene: atp2c2 has been classified as Red List (Low Evidence).
Mendeliome v0.14691 AHSG Elena Savva Marked gene: AHSG as ready
Mendeliome v0.14691 AHSG Elena Savva Gene: ahsg has been classified as Red List (Low Evidence).
Mendeliome v0.14691 GDAP1 Zornitza Stark Publications for gene: GDAP1 were set to
Mendeliome v0.14690 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14689 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Mendeliome v0.14689 GDF2 Zornitza Stark Gene: gdf2 has been classified as Green List (High Evidence).
Mendeliome v0.14689 GDF2 Zornitza Stark Phenotypes for gene: GDF2 were changed from to Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506; pulmonary arteriovenous malformations
Mendeliome v0.14688 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Mendeliome v0.14687 GDF2 Zornitza Stark Mode of inheritance for gene: GDF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14686 GDF9 Zornitza Stark Marked gene: GDF9 as ready
Mendeliome v0.14686 GDF9 Zornitza Stark Gene: gdf9 has been classified as Green List (High Evidence).
Mendeliome v0.14686 GDF9 Zornitza Stark Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14, OMIM# 618014
Mendeliome v0.14685 GDF9 Zornitza Stark Publications for gene: GDF9 were set to
Mendeliome v0.14684 GDF9 Zornitza Stark Mode of inheritance for gene: GDF9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14683 GEMIN4 Zornitza Stark Marked gene: GEMIN4 as ready
Mendeliome v0.14683 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Green List (High Evidence).
Mendeliome v0.14683 GEMIN4 Zornitza Stark Phenotypes for gene: GEMIN4 were changed from to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913
Mendeliome v0.14682 GEMIN4 Zornitza Stark Publications for gene: GEMIN4 were set to
Mendeliome v0.14681 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14680 GFM2 Zornitza Stark Marked gene: GFM2 as ready
Mendeliome v0.14680 GFM2 Zornitza Stark Gene: gfm2 has been classified as Green List (High Evidence).
Mendeliome v0.14680 GFM2 Zornitza Stark Phenotypes for gene: GFM2 were changed from to Combined oxidative phosphorylation deficiency 39, OMIM #618397
Mendeliome v0.14679 GFM2 Zornitza Stark Publications for gene: GFM2 were set to
Mendeliome v0.14678 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14677 GIF Zornitza Stark Marked gene: GIF as ready
Mendeliome v0.14677 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Mendeliome v0.14677 GIF Zornitza Stark Phenotypes for gene: GIF were changed from to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism
Mendeliome v0.14676 GIF Zornitza Stark Publications for gene: GIF were set to
Mendeliome v0.14675 GIF Zornitza Stark Mode of inheritance for gene: GIF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14674 KATNB1 Elena Savva reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14674 PRKAG3 Elena Savva Phenotypes for gene: PRKAG3 were changed from increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030 to increased glycogen content in skeletal muscle
Mendeliome v0.14673 TIA1 Elena Savva Publications for gene: TIA1 were set to
Mendeliome v0.14672 SLC26A1 Elena Savva Marked gene: SLC26A1 as ready
Mendeliome v0.14672 SLC26A1 Elena Savva Gene: slc26a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14672 TIA1 Elena Savva Phenotypes for gene: TIA1 were changed from Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454) to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454)
Mendeliome v0.14671 PRKAG3 Elena Savva Phenotypes for gene: PRKAG3 were changed from to increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030
Mendeliome v0.14670 PRKAG3 Elena Savva Marked gene: PRKAG3 as ready
Mendeliome v0.14670 PRKAG3 Elena Savva Gene: prkag3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14670 GINS1 Zornitza Stark Marked gene: GINS1 as ready
Mendeliome v0.14670 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Mendeliome v0.14670 GINS1 Zornitza Stark Publications for gene: GINS1 were set to
Mendeliome v0.14669 PRKAG3 Elena Savva Publications for gene: PRKAG3 were set to
Mendeliome v0.14668 PRKAG3 Elena Savva Mode of inheritance for gene: PRKAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14667 U2AF2 Elena Savva Marked gene: U2AF2 as ready
Mendeliome v0.14667 U2AF2 Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14667 TDP1 Elena Savva Marked gene: TDP1 as ready
Mendeliome v0.14667 TDP1 Elena Savva Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14667 TIA1 Elena Savva Phenotypes for gene: TIA1 were changed from to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454)
Mendeliome v0.14666 TIA1 Elena Savva Marked gene: TIA1 as ready
Mendeliome v0.14666 TIA1 Elena Savva Gene: tia1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 PLD3 Elena Savva Marked gene: PLD3 as ready
Mendeliome v0.14666 PLD3 Elena Savva Gene: pld3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 RBM7 Elena Savva Marked gene: RBM7 as ready
Mendeliome v0.14666 RBM7 Elena Savva Gene: rbm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 MFAP5 Elena Savva Marked gene: MFAP5 as ready
Mendeliome v0.14666 MFAP5 Elena Savva Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 MMGT1 Elena Savva Marked gene: MMGT1 as ready
Mendeliome v0.14666 MMGT1 Elena Savva Gene: mmgt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 FRA12A Elena Savva Marked STR: FRA12A as ready
Mendeliome v0.14666 FRA12A Elena Savva Str: fra12a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 GIGYF2 Elena Savva Marked gene: GIGYF2 as ready
Mendeliome v0.14666 GIGYF2 Elena Savva Gene: gigyf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 FRA12A Elena Savva Phenotypes for STR: FRA12A were changed from Mental retardation, FRA12A type MIM#136630 to Intellectual developmental disorder, autosomal dominant, FRA12A type MIM#136630
Mendeliome v0.14665 MEPE Elena Savva Marked gene: MEPE as ready
Mendeliome v0.14665 MEPE Elena Savva Gene: mepe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14665 LRIF1 Elena Savva Marked gene: LRIF1 as ready
Mendeliome v0.14665 LRIF1 Elena Savva Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14665 GIGYF2 Elena Savva Phenotypes for gene: GIGYF2 were changed from to {Parkinson disease 11} MIM#607688
Mendeliome v0.14664 GIGYF2 Elena Savva Mode of inheritance for gene: GIGYF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14663 DMGDH Elena Savva Marked gene: DMGDH as ready
Mendeliome v0.14663 DMGDH Elena Savva Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14663 DMGDH Elena Savva Phenotypes for gene: DMGDH were changed from to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics
Mendeliome v0.14663 DMGDH Elena Savva Publications for gene: DMGDH were set to
Mendeliome v0.14662 DCAF8 Elena Savva Marked gene: DCAF8 as ready
Mendeliome v0.14662 DCAF8 Elena Savva Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14662 CCT5 Elena Savva Marked gene: CCT5 as ready
Mendeliome v0.14662 CCT5 Elena Savva Gene: cct5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14662 ATG5 Elena Savva Marked gene: ATG5 as ready
Mendeliome v0.14662 ATG5 Elena Savva Gene: atg5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14662 LYZ Abhijit Kulkarni reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 1808634 8464497 15745733; Phenotypes: Amyloidosis, renal (MIM: 105200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14662 USP8 Elena Savva Marked gene: USP8 as ready
Mendeliome v0.14662 USP8 Elena Savva Gene: usp8 has been classified as Green List (High Evidence).
Mendeliome v0.14662 LRP5 Krithika Murali reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4 - MIM#601813 (AD, AR), Hyperostosis, endosteal - MIM#144750 (AD), Osteopetrosis, autosomal dominant 1 - MIM#607634(AD), Osteoporosis-pseudoglioma syndrome - MIM#259770 (AR), Osteosclerosis - #144750 (AD), Polycystic liver disease 4 with or without kidney cysts - MIM#617875 (AD), van Buchem disease, type 2 - MIM#607636; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14662 MSX1 Elena Savva Phenotypes for gene: MSX1 were changed from Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia
Mendeliome v0.14661 MSX1 Elena Savva Publications for gene: MSX1 were set to 33419968, 33708320, 32192766
Mendeliome v0.14660 LRP6 Krithika Murali reviewed gene: LRP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387593; Phenotypes: Tooth agenesis, selective, 7 - MIM#616724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14660 LYRM7 Krithika Murali reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14660 LYST Krithika Murali reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome - MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14660 MSX1 Elena Savva Phenotypes for gene: MSX1 were changed from to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia
Mendeliome v0.14659 MSX1 Elena Savva Publications for gene: MSX1 were set to
Mendeliome v0.14659 MSX1 Elena Savva Marked gene: MSX1 as ready
Mendeliome v0.14659 MSX1 Elena Savva Gene: msx1 has been classified as Green List (High Evidence).
Mendeliome v0.14659 MSX1 Elena Savva Mode of inheritance for gene: MSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14658 LYZ Krithika Murali reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 1808634, 8464497, 15745733,; Phenotypes: Amyloidosis, renal - MIM#105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14658 GINS1 Zornitza Stark Mode of inheritance for gene: GINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14657 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Mendeliome v0.14657 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Mendeliome v0.14657 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Mendeliome v0.14656 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Mendeliome v0.14655 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14654 GJA5 Zornitza Stark Marked gene: GJA5 as ready
Mendeliome v0.14654 GJA5 Zornitza Stark Gene: gja5 has been classified as Green List (High Evidence).
Mendeliome v0.14654 GJA5 Zornitza Stark Phenotypes for gene: GJA5 were changed from to Atrial fibrillation, familial, 11, OMIM# 614049
Mendeliome v0.14653 GJA5 Zornitza Stark Publications for gene: GJA5 were set to
Mendeliome v0.14652 GJA5 Zornitza Stark Mode of inheritance for gene: GJA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14651 LRP2 Chirag Patel commented on gene: LRP2: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness.

Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
Mendeliome v0.14651 LRP2 Chirag Patel reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14651 LINS1 Chirag Patel reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32802957, 34450347, 32499722, 31922598; Phenotypes: Intellectual developmental disorder, autosomal recessive 27, MIM# 614340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14651 ATPAF2 Krithika Murali reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 - MIM#604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14651 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Mendeliome v0.14651 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Mendeliome v0.14650 ADD1 Chirag Patel gene: ADD1 was added
gene: ADD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to PMID: 34906466
Phenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown
Sources: Literature
Mendeliome v0.14649 AVP Chirag Patel reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 6526016, 1840604, 8554046; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14649 AURKC Chirag Patel Classified gene: AURKC as Red List (low evidence)
Mendeliome v0.14649 AURKC Chirag Patel Gene: aurkc has been classified as Red List (Low Evidence).
Mendeliome v0.14649 AURKC Chirag Patel Classified gene: AURKC as Red List (low evidence)
Mendeliome v0.14649 AURKC Chirag Patel Gene: aurkc has been classified as Red List (Low Evidence).
Mendeliome v0.14649 AURKC Chirag Patel Classified gene: AURKC as Red List (low evidence)
Mendeliome v0.14649 AURKC Chirag Patel Gene: aurkc has been classified as Red List (Low Evidence).
Mendeliome v0.14648 AURKC Chirag Patel reviewed gene: AURKC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 5 , OMIM #243060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14648 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mendeliome v0.14648 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14648 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mendeliome v0.14648 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14647 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 ATP6V1E1 Chirag Patel reviewed gene: ATP6V1E1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28065471, 27023906; Phenotypes: Cutis laxa, autosomal recessive, type IIC MIM#617402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 ATP2A1 Chirag Patel reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32040565; Phenotypes: Brody myopathy, OMIM # 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 GJA5 Chirag Patel commented on gene: GJA5: Gollob et al. (2006) presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They identified a heterozygous missense mutation in blood and cardiac tissue in patient with AF. They also found 3 heterozygous missense mutations in cardiac tissue only in 3 other patients, indicating a somatic source of the genetic defects

Yang et al. (2010) identified a heterozygous nonsense mutationin a 64-year-old female patient who was diagnosed with paroxysmal AF at 32 years of age. The mutation was detected in 6 additional affected family members, but was not found in 6 unaffected family members or in 200 ethnically matched controls.

Yang et al. (2010) identified 3 heterozygous missense mutations in 3 probands with AF. The mutations segregated with disease in all 3 families and were not found in 200 ethnically matched controls.

Sun et al. (2013) identified a heterozygous missense mutation in a 42-year-old woman who had been diagnosed with AF at age 40 years. The mutation was also detected in her father, who had been diagnosed with lone AF at 41 years of age, but it was not found in unaffected family members, in 200 controls, or in the dbSNP database. Functional analysis demonstrated that the I75F mutant is unable to form functional gap junction channels and also impairs coupling when expressed with wildtype CX40 or CX43.
Mendeliome v0.14647 GJA5 Chirag Patel reviewed gene: GJA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16790700, 20818502, 20650941, 23348765; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14647 GEMIN4 Chirag Patel reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Mendeliome v0.14647 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Mendeliome v0.14647 GJB2 Zornitza Stark Phenotypes for gene: GJB2 were changed from to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Mendeliome v0.14646 GJB2 Zornitza Stark Publications for gene: GJB2 were set to
Mendeliome v0.14645 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14644 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Mendeliome v0.14644 GJB3 Zornitza Stark Gene: gjb3 has been classified as Green List (High Evidence).
Mendeliome v0.14644 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1, MIM# 133200
Mendeliome v0.14643 GJB3 Zornitza Stark Publications for gene: GJB3 were set to
Mendeliome v0.14642 GJB2 Chirag Patel reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11179004, 9529365, 14985372, 19941053, 11354642; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14642 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14641 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14640 GJB3 Zornitza Stark reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843209, 10594760, 10798362, 12019212; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, MIM# 133200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14640 GJB3 Chirag Patel reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9843209, 10798362, 10594760, 17446259, 9843210; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, OMIM #133200, Deafness, autosomal dominant 2B, OMIM # 612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14640 GNB5 Chirag Patel reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27523599, 27677260, 28697420, 29368331; Phenotypes: Intellectual developmental disorder with cardiac arrhythmia, OMIM #617173, Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM # 617182, Early infantile epileptic encephalopathy (EIEE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14640 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Mendeliome v0.14640 GJB4 Zornitza Stark Gene: gjb4 has been classified as Green List (High Evidence).
Mendeliome v0.14640 GJB4 Zornitza Stark Phenotypes for gene: GJB4 were changed from to Erythrokeratodermia variabilis et progressiva 2, MIM# 617524
Mendeliome v0.14639 GJB4 Zornitza Stark Publications for gene: GJB4 were set to
Mendeliome v0.14638 GJB4 Zornitza Stark Mode of inheritance for gene: GJB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14637 GJB4 Zornitza Stark reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11017804, 12648223, 19291775; Phenotypes: Erythrokeratodermia variabilis et progressiva 2, MIM# 617524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14637 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Mendeliome v0.14637 GJB6 Zornitza Stark Gene: gjb6 has been classified as Green List (High Evidence).
Mendeliome v0.14637 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Deafness, autosomal dominant 3B, MIM# 612643; Deafness, autosomal recessive 1B, MIM# 612645; Ectodermal dysplasia 2, Clouston type, MIM# 129500
Mendeliome v0.14636 GJB6 Zornitza Stark Publications for gene: GJB6 were set to
Mendeliome v0.14635 GJB6 Zornitza Stark Mode of inheritance for gene: GJB6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14634 GJB6 Zornitza Stark Tag SV/CNV tag was added to gene: GJB6.
Mendeliome v0.14634 GJB6 Zornitza Stark reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11017065, 23219093, 11874494, 18717672, 27137747, 25808784, 19416251, 26620415, 17227867; Phenotypes: Deafness, autosomal dominant 3B, MIM# 612643, Deafness, autosomal recessive 1B, MIM# 612645, Ectodermal dysplasia 2, Clouston type, MIM# 129500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14634 GK Zornitza Stark Marked gene: GK as ready
Mendeliome v0.14634 GK Zornitza Stark Gene: gk has been classified as Green List (High Evidence).
Mendeliome v0.14634 GK Zornitza Stark Phenotypes for gene: GK were changed from to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism
Mendeliome v0.14633 GK Zornitza Stark Publications for gene: GK were set to
Mendeliome v0.14632 GK Zornitza Stark Mode of inheritance for gene: GK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14631 GLCCI1 Zornitza Stark Marked gene: GLCCI1 as ready
Mendeliome v0.14631 GLCCI1 Zornitza Stark Gene: glcci1 has been classified as Red List (Low Evidence).
Mendeliome v0.14631 GLCCI1 Zornitza Stark Phenotypes for gene: GLCCI1 were changed from to {Glucocorticoid therapy, response to} 614400
Mendeliome v0.14630 GLCCI1 Zornitza Stark Mode of inheritance for gene: GLCCI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14629 GLCCI1 Zornitza Stark Classified gene: GLCCI1 as Red List (low evidence)
Mendeliome v0.14629 GLCCI1 Zornitza Stark Gene: glcci1 has been classified as Red List (Low Evidence).
Mendeliome v0.14628 GLCCI1 Zornitza Stark reviewed gene: GLCCI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Glucocorticoid therapy, response to} 614400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14628 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Mendeliome v0.14628 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Mendeliome v0.14628 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Mendeliome v0.14627 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Mendeliome v0.14626 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14625 GLE1 Zornitza Stark Tag founder tag was added to gene: GLE1.
Mendeliome v0.14625 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Mendeliome v0.14625 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Mendeliome v0.14625 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199
Mendeliome v0.14624 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Mendeliome v0.14623 GLIS3 Zornitza Stark Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14622 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041, 35410112, 35394098, 34093443; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14622 GLUL Zornitza Stark Marked gene: GLUL as ready
Mendeliome v0.14622 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Mendeliome v0.14622 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism
Mendeliome v0.14621 GLUL Zornitza Stark Publications for gene: GLUL were set to
Mendeliome v0.14620 GLUL Zornitza Stark Mode of inheritance for gene: GLUL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14619 GLYCTK Zornitza Stark Marked gene: GLYCTK as ready
Mendeliome v0.14619 GLYCTK Zornitza Stark Gene: glyctk has been classified as Green List (High Evidence).
Mendeliome v0.14619 GLYCTK Zornitza Stark Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism
Mendeliome v0.14618 GLYCTK Zornitza Stark Publications for gene: GLYCTK were set to
Mendeliome v0.14617 GLYCTK Zornitza Stark Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14616 GMPPA Zornitza Stark Marked gene: GMPPA as ready
Mendeliome v0.14616 GMPPA Zornitza Stark Gene: gmppa has been classified as Green List (High Evidence).
Mendeliome v0.14616 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome, MIM# 615510
Mendeliome v0.14615 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Mendeliome v0.14614 GMPPA Zornitza Stark Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14613 GMPPA Zornitza Stark reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and mental retardation syndrome, MIM# 615510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14613 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Mendeliome v0.14613 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Mendeliome v0.14613 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from to 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
Mendeliome v0.14612 GMPPB Zornitza Stark Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14611 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14611 GNAS Zornitza Stark Marked gene: GNAS as ready
Mendeliome v0.14611 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Mendeliome v0.14611 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from to Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463)
Mendeliome v0.14610 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14609 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osseous heteroplasia, progressive (166350) AD, Pituitary adenoma 3, multiple types, somatic (617686), Pseudohypoparathyroidism Ia (103580) AD, Pseudohypoparathyroidism Ib (603233) AD, Pseudohypoparathyroidism Ic (612462) AD, Pseudopseudohypoparathyroidism (612463); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14609 GNAT1 Zornitza Stark Marked gene: GNAT1 as ready
Mendeliome v0.14609 GNAT1 Zornitza Stark Gene: gnat1 has been classified as Green List (High Evidence).
Mendeliome v0.14609 GNAT1 Zornitza Stark Phenotypes for gene: GNAT1 were changed from to Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389
Mendeliome v0.14608 GNAT1 Zornitza Stark Publications for gene: GNAT1 were set to
Mendeliome v0.14607 GNAT1 Zornitza Stark Mode of inheritance for gene: GNAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14606 GNAT1 Zornitza Stark reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673138, 17584859, 22190596, 26472407, 11095744, 11095744, 30051303; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444, Night blindness, congenital stationary, type 1G, MIM# 616389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14606 GNB3 Zornitza Stark Marked gene: GNB3 as ready
Mendeliome v0.14606 GNB3 Zornitza Stark Gene: gnb3 has been classified as Green List (High Evidence).
Mendeliome v0.14606 GNB3 Zornitza Stark Phenotypes for gene: GNB3 were changed from to Night blindness, congenital stationary, type 1H, MIM# 617024
Mendeliome v0.14605 GNB3 Zornitza Stark Publications for gene: GNB3 were set to
Mendeliome v0.14604 GNB3 Zornitza Stark Mode of inheritance for gene: GNB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14603 GNB3 Zornitza Stark reviewed gene: GNB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27063057, 17065478; Phenotypes: Night blindness, congenital stationary, type 1H, MIM# 617024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14603 GNMT Zornitza Stark Marked gene: GNMT as ready
Mendeliome v0.14603 GNMT Zornitza Stark Gene: gnmt has been classified as Green List (High Evidence).
Mendeliome v0.14603 GNMT Zornitza Stark Phenotypes for gene: GNMT were changed from to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids
Mendeliome v0.14602 GNMT Zornitza Stark Publications for gene: GNMT were set to
Mendeliome v0.14601 GNMT Zornitza Stark Mode of inheritance for gene: GNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14600 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Mendeliome v0.14600 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Green List (High Evidence).
Mendeliome v0.14600 GOSR2 Zornitza Stark Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6 , MIM#614018
Mendeliome v0.14599 GOSR2 Zornitza Stark Publications for gene: GOSR2 were set to
Mendeliome v0.14598 GOSR2 Zornitza Stark Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14597 GOSR2 Zornitza Stark reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549339, 24458321, 30363482; Phenotypes: Epilepsy, progressive myoclonic 6 , MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14597 GOT1 Zornitza Stark Marked gene: GOT1 as ready
Mendeliome v0.14597 GOT1 Zornitza Stark Gene: got1 has been classified as Red List (Low Evidence).
Mendeliome v0.14597 GOT1 Zornitza Stark Phenotypes for gene: GOT1 were changed from to Aspartate aminotransferase, serum level of, QTL1, MIM# 614419
Mendeliome v0.14596 GOT1 Zornitza Stark Classified gene: GOT1 as Red List (low evidence)
Mendeliome v0.14596 GOT1 Zornitza Stark Gene: got1 has been classified as Red List (Low Evidence).
Mendeliome v0.14595 GOT1 Zornitza Stark reviewed gene: GOT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartate aminotransferase, serum level of, QTL1, MIM# 614419; Mode of inheritance: None
Mendeliome v0.14595 GPC4 Zornitza Stark Marked gene: GPC4 as ready
Mendeliome v0.14595 GPC4 Zornitza Stark Gene: gpc4 has been classified as Green List (High Evidence).
Mendeliome v0.14595 GPC4 Zornitza Stark Phenotypes for gene: GPC4 were changed from to Keipert syndrome OMIM# 301026
Mendeliome v0.14594 GPC4 Zornitza Stark Publications for gene: GPC4 were set to
Mendeliome v0.14593 GPC4 Zornitza Stark Mode of inheritance for gene: GPC4 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)
Mendeliome v0.14592 GPNMB Krithika Murali Deleted their review
Mendeliome v0.14592 GPNMB Krithika Murali reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31226264, 29336782, 31260093, 34551863, 33687658; Phenotypes: Amyloidosis, primary localized cutaneous, 3 - MIM#617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GLE1 Chirag Patel reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GDF2 Chirag Patel reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506, pulmonary arteriovenous malformations; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14592 GCNT2 Chirag Patel reviewed gene: GCNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15161861, 27936067, 12424189, 28224043; Phenotypes: Cataract 13 with adult i phenotype, OMIM # 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GJA1 Chirag Patel reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14592 GCK Chirag Patel reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14592 GINS1 Chirag Patel reviewed gene: GINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28414293; Phenotypes: Immunodeficiency 55, OMIM #617827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GDNF Chirag Patel Classified gene: GDNF as Red List (low evidence)
Mendeliome v0.14592 GDNF Chirag Patel Gene: gdnf has been classified as Red List (Low Evidence).
Mendeliome v0.14591 GDNF Chirag Patel reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 8896568, 8968758; Phenotypes: {Hirschsprung disease, susceptibility to, 3}, OMIM # 613711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14591 GFM2 Chirag Patel reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22700954, 26016410, 29075935; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM #618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14591 GDF9 Chirag Patel reviewed gene: GDF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29044499, 8849725, 33036707; Phenotypes: Premature ovarian failure 14, OMIM# 618014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14591 GIGYF2 Chirag Patel Publications for gene: GIGYF2 were set to
Mendeliome v0.14590 GIGYF2 Chirag Patel Classified gene: GIGYF2 as Amber List (moderate evidence)
Mendeliome v0.14590 GIGYF2 Chirag Patel Gene: gigyf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14589 GIGYF2 Chirag Patel reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18358451; Phenotypes: {Parkinson disease 11} , OMIM # 607688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14589 HEY2 Zornitza Stark Marked gene: HEY2 as ready
Mendeliome v0.14589 HEY2 Zornitza Stark Gene: hey2 has been classified as Red List (Low Evidence).
Mendeliome v0.14589 HEY2 Zornitza Stark Phenotypes for gene: HEY2 were changed from congenital heart defects and thoracic aortic aneurysms to congenital heart disease MONDO:0005453; thoracic aortic aneurysms
Mendeliome v0.14588 GCH1 Chirag Patel reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7874165, 11113234, 15753436, 9667588, 10987649, 32170445, 32278297, 32746945, 30314816; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14588 IL18BP Zornitza Stark Marked gene: IL18BP as ready
Mendeliome v0.14588 IL18BP Zornitza Stark Gene: il18bp has been classified as Red List (Low Evidence).
Mendeliome v0.14588 ITPKB Zornitza Stark Marked gene: ITPKB as ready
Mendeliome v0.14588 ITPKB Zornitza Stark Gene: itpkb has been classified as Red List (Low Evidence).
Mendeliome v0.14588 ITPKB Zornitza Stark Phenotypes for gene: ITPKB were changed from Severe combined immunodeficiency, absent T cells, present B cells and NK cells to Severe combined immunodeficiency MONDO:0015974, absent T cells, present B cells and NK cells
Mendeliome v0.14587 MUC7 Zornitza Stark Marked gene: MUC7 as ready
Mendeliome v0.14587 MUC7 Zornitza Stark Gene: muc7 has been classified as Red List (Low Evidence).
Mendeliome v0.14587 MUC7 Zornitza Stark Phenotypes for gene: MUC7 were changed from to {Asthma, protection against} MIM#600807
Mendeliome v0.14586 MUC7 Zornitza Stark Mode of inheritance for gene: MUC7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14585 MYF6 Zornitza Stark Marked gene: MYF6 as ready
Mendeliome v0.14585 MYF6 Zornitza Stark Gene: myf6 has been classified as Red List (Low Evidence).
Mendeliome v0.14585 MYF6 Zornitza Stark Phenotypes for gene: MYF6 were changed from to Centronuclear myopathy, MONDO:0018947
Mendeliome v0.14584 MYF6 Zornitza Stark Publications for gene: MYF6 were set to
Mendeliome v0.14583 MYF6 Zornitza Stark Mode of inheritance for gene: MYF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14582 PDCD6IP Zornitza Stark Marked gene: PDCD6IP as ready
Mendeliome v0.14582 PDCD6IP Zornitza Stark Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14582 PDCD6IP Zornitza Stark Phenotypes for gene: PDCD6IP were changed from Microcephaly; intellectual disability to Neurodevelopmental disorder MONDO:0700092; Microcephaly; intellectual disability
Mendeliome v0.14581 PDCD6IP Zornitza Stark Classified gene: PDCD6IP as Amber List (moderate evidence)
Mendeliome v0.14581 PDCD6IP Zornitza Stark Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14580 POU5F1 Zornitza Stark Marked gene: POU5F1 as ready
Mendeliome v0.14580 POU5F1 Zornitza Stark Gene: pou5f1 has been classified as Red List (Low Evidence).
Mendeliome v0.14580 GBA2 Chirag Patel reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14580 GATAD1 Chirag Patel Classified gene: GATAD1 as Red List (low evidence)
Mendeliome v0.14580 GATAD1 Chirag Patel Gene: gatad1 has been classified as Red List (Low Evidence).
Mendeliome v0.14579 SGK3 Zornitza Stark Marked gene: SGK3 as ready
Mendeliome v0.14579 SGK3 Zornitza Stark Gene: sgk3 has been classified as Red List (Low Evidence).
Mendeliome v0.14579 GATAD1 Chirag Patel reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21965549; Phenotypes: ?Cardiomyopathy, dilated, 2B, OMIM # 614672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14579 DMPK Zornitza Stark Marked gene: DMPK as ready
Mendeliome v0.14579 DMPK Zornitza Stark Gene: dmpk has been removed from the panel.
Mendeliome v0.14579 NOP56 Zornitza Stark Marked gene: NOP56 as ready
Mendeliome v0.14579 NOP56 Zornitza Stark Gene: nop56 has been removed from the panel.
Mendeliome v0.14579 NOP56 Zornitza Stark Tag STR tag was added to gene: NOP56.
Mendeliome v0.14579 GAN Chirag Patel reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14579 GALNT3 Chirag Patel reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15133511, 20358599, 32125652; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14579 GPD1 Zornitza Stark Marked gene: GPD1 as ready
Mendeliome v0.14579 GPD1 Zornitza Stark Gene: gpd1 has been classified as Green List (High Evidence).
Mendeliome v0.14579 GPD1 Zornitza Stark Phenotypes for gene: GPD1 were changed from to Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency
Mendeliome v0.14578 GPD1 Zornitza Stark Publications for gene: GPD1 were set to
Mendeliome v0.14577 GPD1 Zornitza Stark Mode of inheritance for gene: GPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14576 GPD1 Zornitza Stark reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22226083, 24549054, 35365473, 34484308, 33447932; Phenotypes: Hypertriglyceridaemia, transient infantile, MIM# 614480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14576 GPHN Zornitza Stark Marked gene: GPHN as ready
Mendeliome v0.14576 GPHN Zornitza Stark Gene: gphn has been classified as Green List (High Evidence).
Mendeliome v0.14576 GPHN Zornitza Stark Publications for gene: GPHN were set to 22040219; 11095995; 26613940; 24561070; 23393157
Mendeliome v0.14575 GPNMB Zornitza Stark Marked gene: GPNMB as ready
Mendeliome v0.14575 GPNMB Zornitza Stark Gene: gpnmb has been classified as Green List (High Evidence).
Mendeliome v0.14575 GPNMB Zornitza Stark Phenotypes for gene: GPNMB were changed from to Amyloidosis, primary localized cutaneous, 3, MIM# 617920
Mendeliome v0.14574 GPNMB Zornitza Stark Publications for gene: GPNMB were set to
Mendeliome v0.14573 GPNMB Zornitza Stark Mode of inheritance for gene: GPNMB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14572 GPNMB Zornitza Stark reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29336782; Phenotypes: Amyloidosis, primary localized cutaneous, 3, MIM# 617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14572 GREM1 Zornitza Stark Marked gene: GREM1 as ready
Mendeliome v0.14572 GREM1 Zornitza Stark Gene: grem1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14572 GREM1 Zornitza Stark Phenotypes for gene: GREM1 were changed from to Genetic intestinal polyposis MONDO:0018188
Mendeliome v0.14571 GREM1 Zornitza Stark Publications for gene: GREM1 were set to
Mendeliome v0.14570 GREM1 Zornitza Stark Mode of inheritance for gene: GREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14569 GREM1 Zornitza Stark Tag SV/CNV tag was added to gene: GREM1.
Mendeliome v0.14569 GREM1 Zornitza Stark Classified gene: GREM1 as Amber List (moderate evidence)
Mendeliome v0.14569 GREM1 Zornitza Stark Gene: grem1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14568 MRAP Zornitza Stark Marked gene: MRAP as ready
Mendeliome v0.14568 MRAP Zornitza Stark Gene: mrap has been classified as Green List (High Evidence).
Mendeliome v0.14568 MRAP Zornitza Stark Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2, MIM# 607398
Mendeliome v0.14567 MRAP Zornitza Stark Publications for gene: MRAP were set to
Mendeliome v0.14566 MRAP Zornitza Stark Mode of inheritance for gene: MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14565 MRAP Zornitza Stark reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15654338; Phenotypes: Glucocorticoid deficiency 2, MIM# 607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14565 MPZL2 Zornitza Stark Marked gene: MPZL2 as ready
Mendeliome v0.14565 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Green List (High Evidence).
Mendeliome v0.14565 MPZL2 Zornitza Stark Phenotypes for gene: MPZL2 were changed from to Deafness, autosomal recessive 111, MIM#618145
Mendeliome v0.14564 MPZL2 Zornitza Stark Publications for gene: MPZL2 were set to
Mendeliome v0.14563 MPZL2 Zornitza Stark Mode of inheritance for gene: MPZL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14562 MPZL2 Zornitza Stark reviewed gene: MPZL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982980, 29961571; Phenotypes: Deafness, autosomal recessive 111, MIM#618145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14562 MPZ Zornitza Stark Marked gene: MPZ as ready
Mendeliome v0.14562 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Mendeliome v0.14562 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN
Mendeliome v0.14561 MPZ Zornitza Stark Publications for gene: MPZ were set to
Mendeliome v0.14560 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14559 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Mendeliome v0.14559 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Mendeliome v0.14559 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Mendeliome v0.14558 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Mendeliome v0.14557 MPV17 Zornitza Stark Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14556 MPO Zornitza Stark Marked gene: MPO as ready
Mendeliome v0.14556 MPO Zornitza Stark Gene: mpo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14556 MPO Zornitza Stark Phenotypes for gene: MPO were changed from to Myeloperoxidase deficiency, MIM# 254600
Mendeliome v0.14555 MPO Zornitza Stark Mode of inheritance for gene: MPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14554 MPO Zornitza Stark Classified gene: MPO as Amber List (moderate evidence)
Mendeliome v0.14554 MPO Zornitza Stark Gene: mpo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14553 MPO Zornitza Stark reviewed gene: MPO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myeloperoxidase deficiency, MIM# 254600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14553 MPC1 Zornitza Stark Marked gene: MPC1 as ready
Mendeliome v0.14553 MPC1 Zornitza Stark Gene: mpc1 has been classified as Green List (High Evidence).
Mendeliome v0.14553 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mendeliome v0.14552 MPC1 Zornitza Stark Publications for gene: MPC1 were set to
Mendeliome v0.14551 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14550 MPC1 Zornitza Stark reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14550 MOG Zornitza Stark Marked gene: MOG as ready
Mendeliome v0.14550 MOG Zornitza Stark Gene: mog has been classified as Red List (Low Evidence).
Mendeliome v0.14550 MOG Zornitza Stark Phenotypes for gene: MOG were changed from to Narcolepsy 7 , MIM# 614250
Mendeliome v0.14549 MOG Zornitza Stark Publications for gene: MOG were set to
Mendeliome v0.14548 MOG Zornitza Stark Mode of inheritance for gene: MOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14547 MOG Zornitza Stark Classified gene: MOG as Red List (low evidence)
Mendeliome v0.14547 MOG Zornitza Stark Gene: mog has been classified as Red List (Low Evidence).
Mendeliome v0.14546 MOG Zornitza Stark reviewed gene: MOG: Rating: RED; Mode of pathogenicity: None; Publications: 21907016; Phenotypes: Narcolepsy 7 , MIM# 614250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14546 MOCS3 Zornitza Stark Marked gene: MOCS3 as ready
Mendeliome v0.14546 MOCS3 Zornitza Stark Gene: mocs3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14546 MOCS3 Zornitza Stark Phenotypes for gene: MOCS3 were changed from to Molybdenum cofactor deficiency MONDO:0020480
Mendeliome v0.14545 MOCS3 Zornitza Stark Publications for gene: MOCS3 were set to
Mendeliome v0.14544 MOCS3 Zornitza Stark Mode of inheritance for gene: MOCS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14543 MOCS3 Zornitza Stark Classified gene: MOCS3 as Amber List (moderate evidence)
Mendeliome v0.14543 MOCS3 Zornitza Stark Gene: mocs3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14542 MOCS3 Zornitza Stark reviewed gene: MOCS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33897766, 28544736; Phenotypes: Molybdenum cofactor deficiency MONDO:0020480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14542 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Mendeliome v0.14542 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Mendeliome v0.14542 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to 21031595; 9921896; 12754701
Mendeliome v0.14541 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Mendeliome v0.14541 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Mendeliome v0.14541 MNX1 Zornitza Stark Phenotypes for gene: MNX1 were changed from to Currarino syndrome, MIM# 176450
Mendeliome v0.14540 MNX1 Zornitza Stark Publications for gene: MNX1 were set to
Mendeliome v0.14539 MNX1 Zornitza Stark Mode of inheritance for gene: MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14538 MMP2 Zornitza Stark Marked gene: MMP2 as ready
Mendeliome v0.14538 MMP2 Zornitza Stark Gene: mmp2 has been classified as Green List (High Evidence).
Mendeliome v0.14538 MMP2 Zornitza Stark Phenotypes for gene: MMP2 were changed from to Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600
Mendeliome v0.14537 MMP2 Zornitza Stark Publications for gene: MMP2 were set to
Mendeliome v0.14536 MMP2 Zornitza Stark Mode of inheritance for gene: MMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14535 MMP2 Zornitza Stark reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431697, 15691365, 17059372, 17400654; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14535 ATP6V1A Elena Savva Publications for gene: ATP6V1A were set to 29668857; 28065471; 33320377
Mendeliome v0.14534 ATP6V1A Elena Savva Mode of inheritance for gene: ATP6V1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14533 ATP6V1A Elena Savva Publications for gene: ATP6V1A were set to
Mendeliome v0.14533 ATP6V1A Elena Savva Mode of inheritance for gene: ATP6V1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14533 ATP6V1A Elena Savva Marked gene: ATP6V1A as ready
Mendeliome v0.14533 ATP6V1A Elena Savva Gene: atp6v1a has been classified as Green List (High Evidence).
Mendeliome v0.14533 ATP6V1A Elena Savva Phenotypes for gene: ATP6V1A were changed from to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012
Mendeliome v0.14532 ATP6V1A Elena Savva reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29668857, 28065471, 33320377; Phenotypes: Cutis laxa, autosomal recessive, type IID MIM#617403, Developmental and epileptic encephalopathy 93 MIM#618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14532 ATP6AP2 Elena Savva Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 to ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Mendeliome v0.14531 ATP6AP2 Elena Savva Marked gene: ATP6AP2 as ready
Mendeliome v0.14531 ATP6AP2 Elena Savva Gene: atp6ap2 has been classified as Green List (High Evidence).
Mendeliome v0.14531 ATP6AP2 Elena Savva Phenotypes for gene: ATP6AP2 were changed from to ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Mendeliome v0.14531 ATP6AP2 Elena Savva Publications for gene: ATP6AP2 were set to
Mendeliome v0.14531 ATP6AP2 Elena Savva Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14531 ATP6AP2 Elena Savva Mode of pathogenicity for gene: ATP6AP2 was changed from to Other
Mendeliome v0.14530 ATP6AP2 Elena Savva reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23595882; Phenotypes: ?Parkinsonism with spasticity, X-linked MIM#300911, Congenital disorder of glycosylation, type IIr MIM#301045, Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14530 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Mendeliome v0.14530 MMADHC Zornitza Stark Gene: mmadhc has been classified as Green List (High Evidence).
Mendeliome v0.14530 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
Mendeliome v0.14529 MMADHC Zornitza Stark Publications for gene: MMADHC were set to
Mendeliome v0.14528 MMADHC Zornitza Stark Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14527 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Mendeliome v0.14527 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Mendeliome v0.14527 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism
Mendeliome v0.14526 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Mendeliome v0.14525 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14524 MMAB Zornitza Stark Marked gene: MMAB as ready
Mendeliome v0.14524 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Mendeliome v0.14524 MMAB Zornitza Stark Phenotypes for gene: MMAB were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110
Mendeliome v0.14523 MMAB Zornitza Stark Mode of inheritance for gene: MMAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14522 MMAB Zornitza Stark reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14522 MMAA Zornitza Stark Marked gene: MMAA as ready
Mendeliome v0.14522 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Mendeliome v0.14522 MMAA Zornitza Stark Phenotypes for gene: MMAA were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100
Mendeliome v0.14521 MMAA Zornitza Stark Mode of inheritance for gene: MMAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14520 MMAA Zornitza Stark reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14520 MLPH Zornitza Stark Marked gene: MLPH as ready
Mendeliome v0.14520 MLPH Zornitza Stark Gene: mlph has been classified as Green List (High Evidence).
Mendeliome v0.14520 MLPH Zornitza Stark Phenotypes for gene: MLPH were changed from to Griscelli syndrome, type 3, MIM# 609227
Mendeliome v0.14519 MLPH Zornitza Stark Publications for gene: MLPH were set to
Mendeliome v0.14518 MLPH Zornitza Stark Mode of inheritance for gene: MLPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14517 MLPH Zornitza Stark reviewed gene: MLPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12897212, 32864751, 31721180; Phenotypes: Griscelli syndrome, type 3, MIM# 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14517 MITF Zornitza Stark Marked gene: MITF as ready
Mendeliome v0.14517 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Mendeliome v0.14517 MITF Zornitza Stark Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306; Tietz albinism-deafness syndrome, MIM# 103500; Waardenburg syndrome, type 2A, MIM# 193510
Mendeliome v0.14516 MITF Zornitza Stark Publications for gene: MITF were set to
Mendeliome v0.14515 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14514 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889061, 32541011; Phenotypes: COMMAD syndrome, MIM# 617306, Tietz albinism-deafness syndrome, MIM# 103500, Waardenburg syndrome, type 2A, MIM# 193510; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14514 MIR936 Zornitza Stark Marked gene: MIR936 as ready
Mendeliome v0.14514 MIR936 Zornitza Stark Gene: mir936 has been classified as Red List (Low Evidence).
Mendeliome v0.14514 MIR936 Zornitza Stark Classified gene: MIR936 as Red List (low evidence)
Mendeliome v0.14514 MIR936 Zornitza Stark Gene: mir936 has been classified as Red List (Low Evidence).
Mendeliome v0.14513 MIR936 Zornitza Stark reviewed gene: MIR936: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14513 MIR184 Zornitza Stark Marked gene: MIR184 as ready
Mendeliome v0.14513 MIR184 Zornitza Stark Gene: mir184 has been classified as Green List (High Evidence).
Mendeliome v0.14513 MIR184 Zornitza Stark Phenotypes for gene: MIR184 were changed from to EDICT syndrome, MIM# 614303
Mendeliome v0.14512 MIR184 Zornitza Stark Publications for gene: MIR184 were set to
Mendeliome v0.14511 MIR184 Zornitza Stark Mode of inheritance for gene: MIR184 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14510 MIR184 Zornitza Stark reviewed gene: MIR184: Rating: GREEN; Mode of pathogenicity: None; Publications: 21996275, 22131394, 25373792, 24138095; Phenotypes: EDICT syndrome, MIM# 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14510 MIR183 Zornitza Stark Marked gene: MIR183 as ready
Mendeliome v0.14510 MIR183 Zornitza Stark Gene: mir183 has been classified as Red List (Low Evidence).
Mendeliome v0.14510 MIR183 Zornitza Stark Classified gene: MIR183 as Red List (low evidence)
Mendeliome v0.14510 MIR183 Zornitza Stark Gene: mir183 has been classified as Red List (Low Evidence).
Mendeliome v0.14509 MIR183 Zornitza Stark reviewed gene: MIR183: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14509 CPSF3 Zornitza Stark Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876
Mendeliome v0.14508 CPSF3 Zornitza Stark reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14508 ATP2C1 Elena Savva Publications for gene: ATP2C1 were set to 28551824
Mendeliome v0.14508 ATP2C1 Elena Savva Phenotypes for gene: ATP2C1 were changed from Hailey-Hailey disease (MIM# 169600) to Hailey-Hailey disease (MIM#169600)
Mendeliome v0.14507 ATP2C1 Elena Savva Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease (MIM# 169600)
Mendeliome v0.14506 ATP2C1 Elena Savva Publications for gene: ATP2C1 were set to
Mendeliome v0.14506 ATP2C1 Elena Savva Marked gene: ATP2C1 as ready
Mendeliome v0.14506 ATP2C1 Elena Savva Gene: atp2c1 has been classified as Green List (High Evidence).
Mendeliome v0.14506 ATP2C1 Elena Savva Mode of inheritance for gene: ATP2C1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14505 ATP6V0A1 Elena Savva Marked gene: ATP6V0A1 as ready
Mendeliome v0.14505 ATP6V0A1 Elena Savva Gene: atp6v0a1 has been classified as Green List (High Evidence).
Mendeliome v0.14505 MIR182 Zornitza Stark Marked gene: MIR182 as ready
Mendeliome v0.14505 MIR182 Zornitza Stark Gene: mir182 has been classified as Red List (Low Evidence).
Mendeliome v0.14505 MIR182 Zornitza Stark Classified gene: MIR182 as Red List (low evidence)
Mendeliome v0.14505 MIR182 Zornitza Stark Gene: mir182 has been classified as Red List (Low Evidence).
Mendeliome v0.14504 MIR182 Zornitza Stark reviewed gene: MIR182: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14504 MIP Zornitza Stark Marked gene: MIP as ready
Mendeliome v0.14504 MIP Zornitza Stark Gene: mip has been classified as Green List (High Evidence).
Mendeliome v0.14504 MIP Zornitza Stark Phenotypes for gene: MIP were changed from to Cataract 15, multiple types, MIM# 615274
Mendeliome v0.14503 MIP Zornitza Stark Publications for gene: MIP were set to
Mendeliome v0.14502 MIP Zornitza Stark Mode of inheritance for gene: MIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14501 MIP Zornitza Stark reviewed gene: MIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802646, 16564824, 33530927, 30214549; Phenotypes: Cataract 15, multiple types, MIM# 615274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14501 MIF Zornitza Stark Marked gene: MIF as ready
Mendeliome v0.14501 MIF Zornitza Stark Gene: mif has been classified as Red List (Low Evidence).
Mendeliome v0.14501 MIF Zornitza Stark Mode of inheritance for gene: MIF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14500 MIF Zornitza Stark Phenotypes for gene: MIF were changed from to {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302
Mendeliome v0.14499 MIF Zornitza Stark Classified gene: MIF as Red List (low evidence)
Mendeliome v0.14499 MIF Zornitza Stark Gene: mif has been classified as Red List (Low Evidence).
Mendeliome v0.14498 MIF Zornitza Stark reviewed gene: MIF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302; Mode of inheritance: None
Mendeliome v0.14498 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Mendeliome v0.14498 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Mendeliome v0.14498 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mendeliome v0.14497 MGME1 Zornitza Stark Publications for gene: MGME1 were set to
Mendeliome v0.14496 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14495 MGME1 Zornitza Stark reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313956, 29572490, 28711739; Phenotypes: Mitochondrial DNA depletion syndrome 11, MIM# 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14495 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Mendeliome v0.14495 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Mendeliome v0.14495 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Mendeliome v0.14494 MFF Zornitza Stark Marked gene: MFF as ready
Mendeliome v0.14494 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Mendeliome v0.14494 MFF Zornitza Stark Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Mendeliome v0.14493 MFF Zornitza Stark Publications for gene: MFF were set to
Mendeliome v0.14492 MFF Zornitza Stark Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14491 MFF Zornitza Stark reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 26783368, 32181496]; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14491 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Mendeliome v0.14491 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Mendeliome v0.14491 METTL23 Zornitza Stark Phenotypes for gene: METTL23 were changed from to Intellectual developmental disorder, autosomal recessive 44, MIM# 615942
Mendeliome v0.14490 METTL23 Zornitza Stark Publications for gene: METTL23 were set to
Mendeliome v0.14489 METTL23 Zornitza Stark Mode of inheritance for gene: METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14488 METTL23 Zornitza Stark reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: 24501276, 24626631; Phenotypes: Intellectual developmental disorder, autosomal recessive 44, MIM# 615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14488 MET Zornitza Stark Marked gene: MET as ready
Mendeliome v0.14488 MET Zornitza Stark Gene: met has been classified as Green List (High Evidence).
Mendeliome v0.14488 MET Zornitza Stark Phenotypes for gene: MET were changed from to Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884
Mendeliome v0.14487 MET Zornitza Stark Mode of inheritance for gene: MET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14486 MET Zornitza Stark edited their review of gene: MET: Changed phenotypes: Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074, Papillary renal cell carcinoma MONDO:0017884
Mendeliome v0.14486 MET Zornitza Stark reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillary renal cell carcinoma MONDO:0017884; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14486 ATG16L1 Elena Savva Marked gene: ATG16L1 as ready
Mendeliome v0.14486 ATG16L1 Elena Savva Gene: atg16l1 has been classified as Red List (Low Evidence).
Mendeliome v0.14486 MERTK Zornitza Stark Marked gene: MERTK as ready
Mendeliome v0.14486 MERTK Zornitza Stark Gene: mertk has been classified as Green List (High Evidence).
Mendeliome v0.14486 MERTK Zornitza Stark Phenotypes for gene: MERTK were changed from to Retinitis pigmentosa 38, MIM# 613862
Mendeliome v0.14485 MERTK Zornitza Stark Publications for gene: MERTK were set to
Mendeliome v0.14484 MERTK Zornitza Stark Mode of inheritance for gene: MERTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14483 MERTK Zornitza Stark reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062461, 17301963, 20300561, 22180149; Phenotypes: Retinitis pigmentosa 38, MIM# 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14483 MEIS1 Zornitza Stark Marked gene: MEIS1 as ready
Mendeliome v0.14483 MEIS1 Zornitza Stark Gene: meis1 has been classified as Red List (Low Evidence).
Mendeliome v0.14483 MEIS1 Zornitza Stark Classified gene: MEIS1 as Red List (low evidence)
Mendeliome v0.14483 MEIS1 Zornitza Stark Gene: meis1 has been classified as Red List (Low Evidence).
Mendeliome v0.14482 MEIS1 Zornitza Stark reviewed gene: MEIS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14482 ATP1A1 Elena Savva Phenotypes for gene: ATP1A1 were changed from Charcot-Marie-Tooth disease, axonal, type 2DD MIM#618036; Hypomagnesemia, seizures, and mental retardation 2 MIM#618314 to Charcot-Marie-Tooth disease, axonal, type 2DD MIM#618036; Hypomagnesemia, seizures, and mental retardation 2 MIM#618314
Mendeliome v0.14481 ATP2A2 Elena Savva Marked gene: ATP2A2 as ready
Mendeliome v0.14481 ATP2A2 Elena Savva Gene: atp2a2 has been classified as Green List (High Evidence).
Mendeliome v0.14481 ATG16L1 Elena Savva Phenotypes for gene: ATG16L1 were changed from to {Inflammatory bowel disease (Crohn disease) 10} MIM#611081
Mendeliome v0.14480 ATG16L1 Elena Savva Publications for gene: ATG16L1 were set to
Mendeliome v0.14480 ATG16L1 Elena Savva Classified gene: ATG16L1 as Red List (low evidence)
Mendeliome v0.14480 ATG16L1 Elena Savva Gene: atg16l1 has been classified as Red List (Low Evidence).
Mendeliome v0.14479 ATL3 Elena Savva Phenotypes for gene: ATL3 were changed from Neuropathy, hereditary sensory, type IF, MIM# 615632 to Neuropathy, hereditary sensory, type IF, MIM# 615632
Mendeliome v0.14478 ATP2A2 Elena Savva Phenotypes for gene: ATP2A2 were changed from to Acrokeratosis verruciformis MIM#101900; Darier disease MIM#124200
Mendeliome v0.14477 ATP2A2 Elena Savva Publications for gene: ATP2A2 were set to
Mendeliome v0.14477 ATP2A2 Elena Savva Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14476 ATP1A1 Elena Savva Phenotypes for gene: ATP1A1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2DD MIM#618036; Hypomagnesemia, seizures, and mental retardation 2 MIM#618314
Mendeliome v0.14475 ATP1A1 Elena Savva Marked gene: ATP1A1 as ready
Mendeliome v0.14475 ATP1A1 Elena Savva Gene: atp1a1 has been classified as Green List (High Evidence).
Mendeliome v0.14475 ATG16L1 Elena Savva reviewed gene: ATG16L1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20602997; Phenotypes: {Inflammatory bowel disease (Crohn disease) 10} MIM#611081; Mode of inheritance: None
Mendeliome v0.14475 ATL3 Elena Savva Phenotypes for gene: ATL3 were changed from to Neuropathy, hereditary sensory, type IF, MIM# 615632
Mendeliome v0.14474 ATL3 Elena Savva Marked gene: ATL3 as ready
Mendeliome v0.14474 ATL3 Elena Savva Gene: atl3 has been classified as Green List (High Evidence).
Mendeliome v0.14474 ATP2A2 Elena Savva reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24336169; Phenotypes: Acrokeratosis verruciformis MIM#101900, Darier disease MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14474 ATP1A1 Elena Savva Publications for gene: ATP1A1 were set to
Mendeliome v0.14474 ATP1A1 Elena Savva Mode of inheritance for gene: ATP1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14473 ATL3 Elena Savva Publications for gene: ATL3 were set to
Mendeliome v0.14473 ATL3 Elena Savva Mode of inheritance for gene: ATL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14472 ATF1 Elena Savva Marked gene: ATF1 as ready
Mendeliome v0.14472 ATF1 Elena Savva Gene: atf1 has been classified as Red List (Low Evidence).
Mendeliome v0.14472 ATF1 Elena Savva Classified gene: ATF1 as Red List (low evidence)
Mendeliome v0.14472 ATF1 Elena Savva Gene: atf1 has been classified as Red List (Low Evidence).
Mendeliome v0.14471 MEIOB Zornitza Stark Marked gene: MEIOB as ready
Mendeliome v0.14471 MEIOB Zornitza Stark Gene: meiob has been classified as Green List (High Evidence).
Mendeliome v0.14471 ASPN Elena Savva Marked gene: ASPN as ready
Mendeliome v0.14471 ASPN Elena Savva Gene: aspn has been classified as Red List (Low Evidence).
Mendeliome v0.14471 MEGF8 Zornitza Stark Marked gene: MEGF8 as ready
Mendeliome v0.14471 MEGF8 Zornitza Stark Gene: megf8 has been classified as Green List (High Evidence).
Mendeliome v0.14471 MEGF8 Zornitza Stark Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome, MIM#614976
Mendeliome v0.14470 MEGF8 Zornitza Stark Publications for gene: MEGF8 were set to
Mendeliome v0.14469 MEGF8 Zornitza Stark Mode of inheritance for gene: MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14468 MEGF8 Zornitza Stark reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063620; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14468 MEFV Zornitza Stark Marked gene: MEFV as ready
Mendeliome v0.14468 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Mendeliome v0.14468 ASPN Elena Savva Publications for gene: ASPN were set to
Mendeliome v0.14467 MEFV Zornitza Stark Phenotypes for gene: MEFV were changed from to Familial Mediterranean fever MIM# 249100
Mendeliome v0.14466 MEFV Zornitza Stark Mode of inheritance for gene: MEFV was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14465 MEFV Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14465 MED23 Zornitza Stark Marked gene: MED23 as ready
Mendeliome v0.14465 MED23 Zornitza Stark Gene: med23 has been classified as Green List (High Evidence).
Mendeliome v0.14465 MED23 Zornitza Stark Phenotypes for gene: MED23 were changed from to Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy, MIM# 614249
Mendeliome v0.14464 MED23 Zornitza Stark Publications for gene: MED23 were set to
Mendeliome v0.14463 MED23 Zornitza Stark Mode of inheritance for gene: MED23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14462 MED23 Zornitza Stark reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 30847200, 31164858; Phenotypes: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy, MIM# 614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14462 MED13 Zornitza Stark Marked gene: MED13 as ready
Mendeliome v0.14462 MED13 Zornitza Stark Gene: med13 has been classified as Green List (High Evidence).
Mendeliome v0.14462 MED13 Zornitza Stark Phenotypes for gene: MED13 were changed from to Intellectual developmental disorder, autosomal dominant 61, MIM# 618009
Mendeliome v0.14461 MED13 Zornitza Stark Publications for gene: MED13 were set to
Mendeliome v0.14460 MED13 Zornitza Stark Mode of inheritance for gene: MED13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14459 MED13 Zornitza Stark reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29740699; Phenotypes: Intellectual developmental disorder, autosomal dominant 61, MIM# 618009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14459 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Mendeliome v0.14459 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Mendeliome v0.14459 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673
Mendeliome v0.14458 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Mendeliome v0.14457 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 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)
Mendeliome v0.14456 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055, Encephalopathy, neonatal severe, MIM# 300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.14456 MCM9 Zornitza Stark Marked gene: MCM9 as ready
Mendeliome v0.14456 MCM9 Zornitza Stark Gene: mcm9 has been classified as Green List (High Evidence).
Mendeliome v0.14456 MCM9 Zornitza Stark Phenotypes for gene: MCM9 were changed from to Ovarian dysgenesis 4, MIM# 616185
Mendeliome v0.14455 MCM9 Zornitza Stark Publications for gene: MCM9 were set to
Mendeliome v0.14454 MCM9 Zornitza Stark Mode of inheritance for gene: MCM9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14453 MCM9 Zornitza Stark reviewed gene: MCM9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480036, 26771056, 33538981, 33095795; Phenotypes: Ovarian dysgenesis 4, MIM# 616185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14453 MCM8 Zornitza Stark Marked gene: MCM8 as ready
Mendeliome v0.14453 MCM8 Zornitza Stark Gene: mcm8 has been classified as Green List (High Evidence).
Mendeliome v0.14453 ASPN Elena Savva Phenotypes for gene: ASPN were changed from {Lumbar disc degeneration} MIM#603932; {Osteoarthritis susceptibility 3} MIM#607850 to {Lumbar disc degeneration} MIM#603932; {Osteoarthritis susceptibility 3} MIM#607850
Mendeliome v0.14453 ASPN Elena Savva Phenotypes for gene: ASPN were changed from to {Lumbar disc degeneration} MIM#603932; {Osteoarthritis susceptibility 3} MIM#607850
Mendeliome v0.14452 ASPN Elena Savva Classified gene: ASPN as Red List (low evidence)
Mendeliome v0.14452 ASPN Elena Savva Gene: aspn has been classified as Red List (Low Evidence).
Mendeliome v0.14451 ARV1 Elena Savva Marked gene: ARV1 as ready
Mendeliome v0.14451 ARV1 Elena Savva Gene: arv1 has been classified as Green List (High Evidence).
Mendeliome v0.14451 ASPN Elena Savva Mode of inheritance for gene: ASPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14450 ARV1 Elena Savva Phenotypes for gene: ARV1 were changed from to DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 MIM#61720; Dilated cardiomyopathy
Mendeliome v0.14449 ARV1 Elena Savva Publications for gene: ARV1 were set to
Mendeliome v0.14449 ARV1 Elena Savva Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14448 MCM8 Zornitza Stark Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM# 612885
Mendeliome v0.14447 MCM8 Zornitza Stark Publications for gene: MCM8 were set to
Mendeliome v0.14446 MCM8 Zornitza Stark Mode of inheritance for gene: MCM8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14445 MCM8 Zornitza Stark reviewed gene: MCM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 25437880, 25873734; Phenotypes: Premature ovarian failure 10, MIM# 612885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14445 MCM6 Zornitza Stark Marked gene: MCM6 as ready
Mendeliome v0.14445 MCM6 Zornitza Stark Gene: mcm6 has been classified as Red List (Low Evidence).
Mendeliome v0.14445 MCM6 Zornitza Stark Phenotypes for gene: MCM6 were changed from to Lactase persistence/nonpersistence 223100
Mendeliome v0.14444 MCM6 Zornitza Stark Mode of inheritance for gene: MCM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14443 MCM6 Zornitza Stark Classified gene: MCM6 as Red List (low evidence)
Mendeliome v0.14443 MCM6 Zornitza Stark Gene: mcm6 has been classified as Red List (Low Evidence).
Mendeliome v0.14442 MCM6 Zornitza Stark reviewed gene: MCM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase persistence/nonpersistence 223100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14442 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Mendeliome v0.14441 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Mendeliome v0.14441 MCEE Zornitza Stark Marked gene: MCEE as ready
Mendeliome v0.14441 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Mendeliome v0.14441 MCEE Zornitza Stark Phenotypes for gene: MCEE were changed from to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias
Mendeliome v0.14440 MCEE Zornitza Stark Publications for gene: MCEE were set to
Mendeliome v0.14439 MCEE Zornitza Stark Mode of inheritance for gene: MCEE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14438 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
Mendeliome v0.14438 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Green List (High Evidence).
Mendeliome v0.14438 MCCC2 Zornitza Stark Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias
Mendeliome v0.14437 MCCC2 Zornitza Stark Publications for gene: MCCC2 were set to
Mendeliome v0.14436 MCCC2 Zornitza Stark Mode of inheritance for gene: MCCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14435 MCCC2 Zornitza Stark reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14435 MCCC1 Zornitza Stark Marked gene: MCCC1 as ready
Mendeliome v0.14435 MCCC1 Zornitza Stark Gene: mccc1 has been classified as Green List (High Evidence).
Mendeliome v0.14435 MCCC1 Zornitza Stark Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias
Mendeliome v0.14434 MCCC1 Zornitza Stark Publications for gene: MCCC1 were set to
Mendeliome v0.14433 MCCC1 Zornitza Stark Mode of inheritance for gene: MCCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14432 MCCC1 Zornitza Stark reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14432 MC3R Zornitza Stark Marked gene: MC3R as ready
Mendeliome v0.14432 MC3R Zornitza Stark Gene: mc3r has been classified as Red List (Low Evidence).
Mendeliome v0.14432 MC3R Zornitza Stark Phenotypes for gene: MC3R were changed from to {Obesity, severe, susceptibility to, BMIQ9} 602025
Mendeliome v0.14431 MC3R Zornitza Stark Mode of inheritance for gene: MC3R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14430 MC3R Zornitza Stark Classified gene: MC3R as Red List (low evidence)
Mendeliome v0.14430 MC3R Zornitza Stark Gene: mc3r has been classified as Red List (Low Evidence).
Mendeliome v0.14429 MC3R Zornitza Stark reviewed gene: MC3R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Obesity, severe, susceptibility to, BMIQ9} 602025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14429 MC2R Zornitza Stark Marked gene: MC2R as ready
Mendeliome v0.14429 MC2R Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
Mendeliome v0.14429 MC2R Zornitza Stark Phenotypes for gene: MC2R were changed from to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Mendeliome v0.14428 MC2R Zornitza Stark Publications for gene: MC2R were set to
Mendeliome v0.14427 MC2R Zornitza Stark Mode of inheritance for gene: MC2R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14426 MC2R Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: 8094489, 8227361; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14426 MBL2 Zornitza Stark Marked gene: MBL2 as ready
Mendeliome v0.14426 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.14426 MBL2 Zornitza Stark Mode of inheritance for gene: MBL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14425 MBL2 Zornitza Stark Mode of inheritance for gene: MBL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14424 MBL2 Zornitza Stark Phenotypes for gene: MBL2 were changed from to {Chronic infections, due to MBL deficiency} 614372
Mendeliome v0.14423 MBL2 Zornitza Stark Classified gene: MBL2 as Red List (low evidence)
Mendeliome v0.14423 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.14422 MBL2 Zornitza Stark reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Chronic infections, due to MBL deficiency} 614372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14422 MATR3 Zornitza Stark Marked gene: MATR3 as ready
Mendeliome v0.14422 MATR3 Zornitza Stark Gene: matr3 has been classified as Green List (High Evidence).
Mendeliome v0.14422 MATR3 Zornitza Stark Phenotypes for gene: MATR3 were changed from to Amyotrophic lateral sclerosis 21, MIM# 606070; Distal myopathy
Mendeliome v0.14421 MATR3 Zornitza Stark Publications for gene: MATR3 were set to
Mendeliome v0.14420 MATR3 Zornitza Stark Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14419 MATR3 Zornitza Stark reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344878, 24686783, 35205163, 34659085, 34173818, 26493020; Phenotypes: Amyotrophic lateral sclerosis 21, MIM# 606070, Distal myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14419 MAP3K1 Zornitza Stark Marked gene: MAP3K1 as ready
Mendeliome v0.14419 MAP3K1 Zornitza Stark Gene: map3k1 has been classified as Green List (High Evidence).
Mendeliome v0.14419 MAP3K1 Zornitza Stark Phenotypes for gene: MAP3K1 were changed from to 46XY sex reversal 6 (MIM#613762)
Mendeliome v0.14418 MAP3K1 Zornitza Stark Publications for gene: MAP3K1 were set to
Mendeliome v0.14417 MAP3K1 Zornitza Stark Mode of inheritance for gene: MAP3K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14416 MAP3K1 Zornitza Stark reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14416 MAK Zornitza Stark Marked gene: MAK as ready
Mendeliome v0.14416 MAK Zornitza Stark Gene: mak has been classified as Green List (High Evidence).
Mendeliome v0.14416 MAK Zornitza Stark Phenotypes for gene: MAK were changed from to Retinitis pigmentosa 62, MIM# 614181
Mendeliome v0.14415 MAK Zornitza Stark Publications for gene: MAK were set to
Mendeliome v0.14414 MAK Zornitza Stark Mode of inheritance for gene: MAK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14413 MAK Zornitza Stark reviewed gene: MAK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21825139, 21835304; Phenotypes: Retinitis pigmentosa 62, MIM# 614181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14413 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Mendeliome v0.14413 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Mendeliome v0.14413 MAGT1 Zornitza Stark Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc (MIM# 301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Mendeliome v0.14412 MAGT1 Zornitza Stark Publications for gene: MAGT1 were set to
Mendeliome v0.14411 MAGT1 Zornitza Stark Mode of inheritance for gene: MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14410 MAGT1 Zornitza Stark changed review comment from: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect

PMID: 31714901;
- 23 XMEN patients from 17 families
- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation; to: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect

PMID: 31714901;
- 23 XMEN patients from 17 families
- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation

These likely represent a single disorder.
Mendeliome v0.14410 MAGT1 Zornitza Stark reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31036665, 31714901; Phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14410 GREM1 Krithika Murali reviewed gene: GREM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22561515, 26493165, 21128281, 29804199; Phenotypes: hereditary mixed polyposis syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14410 MNX1 Abhijit Kulkarni reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571425, 33836786 , 11528505; Phenotypes: Currarino syndrome, MIM# 176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14410 MSX1 Abhijit Kulkarni reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33419968, 33708320, 32192766; Phenotypes: Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14410 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Mendeliome v0.14410 MAGI2 Zornitza Stark Gene: magi2 has been classified as Green List (High Evidence).
Mendeliome v0.14410 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15, MIM# 617609
Mendeliome v0.14409 MAGI2 Zornitza Stark Publications for gene: MAGI2 were set to
Mendeliome v0.14408 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14407 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27932480, 25108225, 25271328, 31171376, 31010479; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14407 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Mendeliome v0.14407 MYO3A Zornitza Stark Gene: myo3a has been classified as Green List (High Evidence).
Mendeliome v0.14407 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Mendeliome v0.14407 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Mendeliome v0.14407 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486
Mendeliome v0.14406 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Mendeliome v0.14405 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14404 OPHN1 Zornitza Stark edited their review of gene: OPHN1: Changed publications: 20528889, 9582072, 12807966, 16221952
Mendeliome v0.14404 OPHN1 Zornitza Stark Deleted their comment
Mendeliome v0.14404 OPHN1 Zornitza Stark commented on gene: OPHN1: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.
Mendeliome v0.14404 PAH Zornitza Stark Marked gene: PAH as ready
Mendeliome v0.14404 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Mendeliome v0.14404 PAH Zornitza Stark Phenotypes for gene: PAH were changed from to Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism
Mendeliome v0.14403 PAH Zornitza Stark Publications for gene: PAH were set to
Mendeliome v0.14402 PAH Zornitza Stark Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14401 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Mendeliome v0.14401 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Mendeliome v0.14401 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Mendeliome v0.14400 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Mendeliome v0.14399 PCDH12 Zornitza Stark Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14398 PCDH12 Zornitza Stark reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14398 PEPD Zornitza Stark Marked gene: PEPD as ready
Mendeliome v0.14398 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Mendeliome v0.14398 PEPD Zornitza Stark Phenotypes for gene: PEPD were changed from to Prolidase deficiency MIM#170100; disorders of peptide metabolism
Mendeliome v0.14397 PEPD Zornitza Stark Publications for gene: PEPD were set to
Mendeliome v0.14396 PEPD Zornitza Stark Mode of inheritance for gene: PEPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14395 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Mendeliome v0.14395 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Mendeliome v0.14395 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870); Peroxisome biogenesis disorder 6B (MIM#614871)
Mendeliome v0.14394 PEX10 Zornitza Stark Publications for gene: PEX10 were set to
Mendeliome v0.14393 PEX10 Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14392 PCK1 Zornitza Stark Marked gene: PCK1 as ready
Mendeliome v0.14392 PCK1 Zornitza Stark Gene: pck1 has been classified as Green List (High Evidence).
Mendeliome v0.14392 PCK1 Zornitza Stark Phenotypes for gene: PCK1 were changed from to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis
Mendeliome v0.14391 PCK1 Zornitza Stark Publications for gene: PCK1 were set to
Mendeliome v0.14390 PCK1 Zornitza Stark Mode of inheritance for gene: PCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14389 QDPR Zornitza Stark Marked gene: QDPR as ready
Mendeliome v0.14389 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Mendeliome v0.14389 REEP1 Zornitza Stark Marked gene: REEP1 as ready
Mendeliome v0.14389 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Mendeliome v0.14389 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from to Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy
Mendeliome v0.14388 REEP1 Zornitza Stark Publications for gene: REEP1 were set to
Mendeliome v0.14387 REEP1 Zornitza Stark Mode of inheritance for gene: REEP1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14386 RLBP1 Zornitza Stark Marked gene: RLBP1 as ready
Mendeliome v0.14386 RLBP1 Zornitza Stark Gene: rlbp1 has been classified as Green List (High Evidence).
Mendeliome v0.14386 RLBP1 Zornitza Stark Phenotypes for gene: RLBP1 were changed from to Fundus albipunctatus MIM#136880; Bothnia retinal dystrophy MIM#607475
Mendeliome v0.14385 RLBP1 Zornitza Stark Publications for gene: RLBP1 were set to
Mendeliome v0.14384 RLBP1 Zornitza Stark Mode of inheritance for gene: RLBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14383 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Mendeliome v0.14383 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Mendeliome v0.14383 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11 MIM#614922
Mendeliome v0.14382 RMND1 Zornitza Stark Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14381 RBFOX2 Chern Lim Deleted their comment
Mendeliome v0.14381 RNASEH1 Zornitza Stark Marked gene: RNASEH1 as ready
Mendeliome v0.14381 RNASEH1 Zornitza Stark Gene: rnaseh1 has been classified as Green List (High Evidence).
Mendeliome v0.14381 RNASEH1 Zornitza Stark Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479
Mendeliome v0.14380 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to
Mendeliome v0.14379 RBFOX2 Chern Lim edited their review of gene: RBFOX2: Added comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.; Changed publications: PMID: 26785492, 27670201, 27485310, 25205790, 35137168, 26785492
Mendeliome v0.14379 RNASEH1 Zornitza Stark Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14378 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Mendeliome v0.14378 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Mendeliome v0.14378 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4 MIM#610333
Mendeliome v0.14377 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Mendeliome v0.14376 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14375 RNF139 Zornitza Stark Marked gene: RNF139 as ready
Mendeliome v0.14375 RNF139 Zornitza Stark Gene: rnf139 has been classified as Red List (Low Evidence).
Mendeliome v0.14375 RNF139 Zornitza Stark Phenotypes for gene: RNF139 were changed from to Renal cell carcinoma MIM#144700
Mendeliome v0.14374 RNF139 Zornitza Stark Publications for gene: RNF139 were set to
Mendeliome v0.14373 RNF139 Zornitza Stark Mode of inheritance for gene: RNF139 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14372 RNF139 Zornitza Stark Classified gene: RNF139 as Red List (low evidence)
Mendeliome v0.14372 RNF139 Zornitza Stark Gene: rnf139 has been classified as Red List (Low Evidence).
Mendeliome v0.14371 RP1 Zornitza Stark Marked gene: RP1 as ready
Mendeliome v0.14371 RP1 Zornitza Stark Gene: rp1 has been classified as Green List (High Evidence).
Mendeliome v0.14371 RP1 Zornitza Stark Phenotypes for gene: RP1 were changed from to Retinitis pigmentosa 1 MIM#180100
Mendeliome v0.14370 RP1 Zornitza Stark Publications for gene: RP1 were set to
Mendeliome v0.14369 RP1 Zornitza Stark Mode of inheritance for gene: RP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14368 RP2 Zornitza Stark Marked gene: RP2 as ready
Mendeliome v0.14368 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Mendeliome v0.14368 RP2 Zornitza Stark Phenotypes for gene: RP2 were changed from to Retinitis pigmentosa 2 MIM#312600
Mendeliome v0.14367 RP2 Zornitza Stark Publications for gene: RP2 were set to
Mendeliome v0.14366 RP2 Zornitza Stark Mode of inheritance for gene: RP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14365 RP9 Zornitza Stark Marked gene: RP9 as ready
Mendeliome v0.14365 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Mendeliome v0.14365 RP9 Zornitza Stark Phenotypes for gene: RP9 were changed from to Retinitis pigmentosa 9 MIM#180104
Mendeliome v0.14364 RP9 Zornitza Stark Publications for gene: RP9 were set to
Mendeliome v0.14363 RP9 Zornitza Stark Mode of inheritance for gene: RP9 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14362 RP9 Zornitza Stark Mode of inheritance for gene: RP9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.14361 RP9 Zornitza Stark Classified gene: RP9 as Red List (low evidence)
Mendeliome v0.14361 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Mendeliome v0.14360 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Mendeliome v0.14360 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Mendeliome v0.14360 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to {Malignant hyperthermia susceptibility 1} MIM#145600; Central core disease, MIM# 117000; King-Denborough syndrome , MIM#619542; Minicore myopathy with external ophthalmoplegia , MIM#255320; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Mendeliome v0.14359 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Mendeliome v0.14358 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14357 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease, MIM# 117000, King-Denborough syndrome , MIM#619542, Minicore myopathy with external ophthalmoplegia , MIM#255320, Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14357 SACS Zornitza Stark Marked gene: SACS as ready
Mendeliome v0.14357 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mendeliome v0.14357 SACS Zornitza Stark Phenotypes for gene: SACS were changed from to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Mendeliome v0.14356 SACS Zornitza Stark Mode of inheritance for gene: SACS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14355 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Mendeliome v0.14355 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Mendeliome v0.14355 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Mendeliome v0.14355 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Episodic pain syndrome, familial, 3, MIM# 615552
Mendeliome v0.14354 SCN11A Zornitza Stark Publications for gene: SCN11A were set to
Mendeliome v0.14353 SCN11A Zornitza Stark Mode of inheritance for gene: SCN11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14352 SCN11A Zornitza Stark edited their review of gene: SCN11A: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548, Episodic pain syndrome, familial, 3, MIM# 615552
Mendeliome v0.14352 TMC8 Zornitza Stark Marked gene: TMC8 as ready
Mendeliome v0.14352 TMC8 Zornitza Stark Gene: tmc8 has been classified as Green List (High Evidence).
Mendeliome v0.14352 TMC8 Zornitza Stark Phenotypes for gene: TMC8 were changed from to Epidermodysplasia verruciformis 2, MIM# 618231
Mendeliome v0.14351 TMC8 Zornitza Stark Publications for gene: TMC8 were set to
Mendeliome v0.14350 TMC8 Zornitza Stark Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14349 TMC8 Zornitza Stark reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 12426567, 28646613; Phenotypes: Epidermodysplasia verruciformis 2, MIM# 618231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14349 ATP6V0A1 Bryony Thompson Mode of inheritance for gene: ATP6V0A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14348 ATP6V0A1 Bryony Thompson Classified gene: ATP6V0A1 as Green List (high evidence)
Mendeliome v0.14348 ATP6V0A1 Bryony Thompson Gene: atp6v0a1 has been classified as Green List (High Evidence).
Mendeliome v0.14347 ATP6V0A1 Bryony Thompson Publications for gene: ATP6V0A1 were set to 30842224; 33057194
Mendeliome v0.14346 ATP6V0A1 Bryony Thompson Phenotypes for gene: ATP6V0A1 were changed from Developmental disorder; Rett syndrome-like to Neurodevelopmental disorder MONDO:0700092, ATP6V0A1-associated
Mendeliome v0.14345 RLBP1 Belinda Chong reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326942, 11453974, 11868161, 21447491, 25429852, 14718298; Phenotypes: Fundus albipunctatus MIM#136880, Bothnia retinal dystrophy MIM#607475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14345 RBFOX2 Chern Lim gene: RBFOX2 was added
gene: RBFOX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX2 were set to PMID: 26785492; 27670201; 27485310; 25205790; 35137168
Phenotypes for gene: RBFOX2 were set to Hypoplastic left heart syndrome (HLHS)
Review for gene: RBFOX2 was set to AMBER
gene: RBFOX2 was marked as current diagnostic
Added comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS).
No further patient-specific clinical or variant info were available.

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.
Sources: Literature
Mendeliome v0.14345 ATF1 Abhijit Kulkarni reviewed gene: ATF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14345 GRIA4 Ain Roesley Marked gene: GRIA4 as ready
Mendeliome v0.14345 GRIA4 Ain Roesley Gene: gria4 has been classified as Green List (High Evidence).
Mendeliome v0.14345 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Mendeliome v0.14345 GRIA4 Ain Roesley Publications for gene: GRIA4 were set to
Mendeliome v0.14345 GRIA4 Ain Roesley Mode of inheritance for gene: GRIA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14344 GRIA4 Ain Roesley reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35518358, 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.14344 GRID2 Ain Roesley Marked gene: GRID2 as ready
Mendeliome v0.14344 GRID2 Ain Roesley Gene: grid2 has been classified as Green List (High Evidence).
Mendeliome v0.14344 GRID2 Ain Roesley Phenotypes for gene: GRID2 were changed from to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
Mendeliome v0.14344 GRID2 Ain Roesley Publications for gene: GRID2 were set to
Mendeliome v0.14343 GRID2 Ain Roesley Tag SV/CNV tag was added to gene: GRID2.
Mendeliome v0.14343 GRID2 Ain Roesley reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622959, 32170608; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18 MIM#616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14343 GRIN2D Ain Roesley Marked gene: GRIN2D as ready
Mendeliome v0.14343 GRIN2D Ain Roesley Gene: grin2d has been classified as Green List (High Evidence).
Mendeliome v0.14343 GRIN2D Ain Roesley Phenotypes for gene: GRIN2D were changed from to Developmental and epileptic encephalopathy 46 MIM#617162
Mendeliome v0.14342 GRIN2D Ain Roesley Publications for gene: GRIN2D were set to
Mendeliome v0.14342 GRIN2D Ain Roesley Mode of inheritance for gene: GRIN2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14341 GRIN2D Ain Roesley reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616483, 30280376; Phenotypes: Developmental and epileptic encephalopathy 46 617162; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.14341 ASPN Abhijit Kulkarni reviewed gene: ASPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 25689697; Mode of inheritance: None
Mendeliome v0.14341 TMC8 Abhijit Kulkarni reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34459021, 28646613; Phenotypes: Epidermodysplasia verruciformis 2 (MIM: 61831); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14341 BICC1 Abhijit Kulkarni reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: renal dysplasia, cystic, susceptibility to; Mode of inheritance: None
Mendeliome v0.14341 ARV1 Abhijit Kulkarni reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065; Phenotypes: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 ( MIM:61720) Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14341 RMND1 Belinda Chong 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; Current diagnostic: yes
Mendeliome v0.14341 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Mendeliome v0.14341 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Mendeliome v0.14341 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785
Mendeliome v0.14340 UGT1A1 Zornitza Stark Mode of inheritance for gene: UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14339 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Mendeliome v0.14339 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Mendeliome v0.14339 UNG Zornitza Stark Marked gene: UNG as ready
Mendeliome v0.14339 UNG Zornitza Stark Gene: ung has been classified as Green List (High Evidence).
Mendeliome v0.14339 UNG Zornitza Stark Phenotypes for gene: UNG were changed from to Immunodeficiency with hyper IgM, type 5, MIM#608106
Mendeliome v0.14338 UNG Zornitza Stark Publications for gene: UNG were set to
Mendeliome v0.14337 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Mendeliome v0.14337 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Green List (High Evidence).
Mendeliome v0.14337 UQCC2 Zornitza Stark Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824
Mendeliome v0.14336 UQCC2 Zornitza Stark Publications for gene: UQCC2 were set to
Mendeliome v0.14335 UQCC2 Zornitza Stark Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14334 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Mendeliome v0.14334 UQCRB Zornitza Stark Gene: uqcrb has been classified as Green List (High Evidence).
Mendeliome v0.14334 UQCRB Zornitza Stark Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Mendeliome v0.14333 UQCRB Zornitza Stark Publications for gene: UQCRB were set to
Mendeliome v0.14332 UQCRB Zornitza Stark Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14331 UROD Zornitza Stark Marked gene: UROD as ready
Mendeliome v0.14331 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Mendeliome v0.14331 UROD Zornitza Stark Phenotypes for gene: UROD were changed from to Porphyria cutanea tarda; Porphyria, hepatoerythropoietic (MIM#176100)
Mendeliome v0.14330 UROD Zornitza Stark Publications for gene: UROD were set to
Mendeliome v0.14329 UROD Zornitza Stark Mode of inheritance for gene: UROD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14328 MAGED2 Zornitza Stark Marked gene: MAGED2 as ready
Mendeliome v0.14328 MAGED2 Zornitza Stark Gene: maged2 has been classified as Green List (High Evidence).
Mendeliome v0.14328 MAGED2 Zornitza Stark Phenotypes for gene: MAGED2 were changed from to Bartter syndrome, type 5, antenatal, transient, MIM# 300971
Mendeliome v0.14327 MAGED2 Zornitza Stark Publications for gene: MAGED2 were set to
Mendeliome v0.14326 MAGED2 Zornitza Stark Mode of inheritance for gene: MAGED2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14325 MAGED2 Zornitza Stark reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120771; Phenotypes: Bartter syndrome, type 5, antenatal, transient, MIM# 300971; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14325 MRPS2 Zornitza Stark Marked gene: MRPS2 as ready
Mendeliome v0.14325 MRPS2 Zornitza Stark Gene: mrps2 has been classified as Green List (High Evidence).
Mendeliome v0.14325 MRPS2 Zornitza Stark Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950
Mendeliome v0.14324 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to
Mendeliome v0.14323 MRPS2 Zornitza Stark Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14322 MRPS2 Zornitza Stark reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219, 34991560; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14322 MSH3 Zornitza Stark Marked gene: MSH3 as ready
Mendeliome v0.14322 MSH3 Zornitza Stark Gene: msh3 has been classified as Green List (High Evidence).
Mendeliome v0.14322 MSH3 Zornitza Stark Phenotypes for gene: MSH3 were changed from to Familial adenomatous polyposis 4 , MIM#617100
Mendeliome v0.14321 MSH3 Zornitza Stark Publications for gene: MSH3 were set to
Mendeliome v0.14320 MSH3 Zornitza Stark Mode of inheritance for gene: MSH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14319 MSH3 Zornitza Stark reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476653, 10706084, 34843512; Phenotypes: Familial adenomatous polyposis 4 , MIM#617100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14319 MSRB3 Zornitza Stark Marked gene: MSRB3 as ready
Mendeliome v0.14319 MSRB3 Zornitza Stark Gene: msrb3 has been classified as Green List (High Evidence).
Mendeliome v0.14319 MSRB3 Zornitza Stark Phenotypes for gene: MSRB3 were changed from to Deafness, autosomal recessive 74, MIM# 613718
Mendeliome v0.14318 MSRB3 Zornitza Stark Publications for gene: MSRB3 were set to
Mendeliome v0.14317 MSRB3 Zornitza Stark Mode of inheritance for gene: MSRB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14316 MSRB3 Zornitza Stark reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19650862, 24191262, 21185009; Phenotypes: Deafness, autosomal recessive 74, MIM# 613718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14316 MTAP Zornitza Stark Marked gene: MTAP as ready
Mendeliome v0.14316 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14316 MTAP Zornitza Stark Phenotypes for gene: MTAP were changed from to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250
Mendeliome v0.14315 MTAP Zornitza Stark Publications for gene: MTAP were set to
Mendeliome v0.14314 MTAP Zornitza Stark Mode of inheritance for gene: MTAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14313 MTAP Zornitza Stark Classified gene: MTAP as Amber List (moderate evidence)
Mendeliome v0.14313 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14312 MTAP Zornitza Stark reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 22464254; Phenotypes: Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14312 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Mendeliome v0.14312 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Mendeliome v0.14312 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
Mendeliome v0.14311 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Mendeliome v0.14310 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14309 MTFMT Zornitza Stark reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 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
Mendeliome v0.14309 MTHFD1 Zornitza Stark Marked gene: MTHFD1 as ready
Mendeliome v0.14309 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Mendeliome v0.14309 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
Mendeliome v0.14308 MTHFD1 Zornitza Stark Phenotypes for gene: MTHFD1 were changed from to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
Mendeliome v0.14307 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to
Mendeliome v0.14306 MTHFD1 Zornitza Stark Mode of inheritance for gene: MTHFD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14305 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Mendeliome v0.14305 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Mendeliome v0.14305 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport
Mendeliome v0.14304 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Mendeliome v0.14303 MTHFR Zornitza Stark Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14302 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Mendeliome v0.14302 MTM1 Zornitza Stark Gene: mtm1 has been classified as Green List (High Evidence).
Mendeliome v0.14302 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from to Myopathy, centronuclear, X-linked, MIM# 310400
Mendeliome v0.14301 MTM1 Zornitza Stark Publications for gene: MTM1 were set to
Mendeliome v0.14300 MTM1 Zornitza Stark Mode of inheritance for gene: MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14299 MTM1 Zornitza Stark reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10790201; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14299 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Mendeliome v0.14299 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Mendeliome v0.14299 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10, OMIM #614702
Mendeliome v0.14298 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Mendeliome v0.14297 MTO1 Zornitza Stark Mode of inheritance for gene: MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14296 MTO1 Zornitza Stark reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14296 MTOR Zornitza Stark Mode of pathogenicity for gene: MTOR was changed from to Other
Mendeliome v0.14295 MTOR Zornitza Stark Marked gene: MTOR as ready
Mendeliome v0.14295 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Mendeliome v0.14295 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Mendeliome v0.14294 MTOR Zornitza Stark Publications for gene: MTOR were set to
Mendeliome v0.14293 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14292 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28892148, 25878179, 26018084; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638, Focal cortical dysplasia, type II, somatic, MIM# 607341, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14292 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Mendeliome v0.14291 TXNDC15 Zornitza Stark edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879
Mendeliome v0.14291 DNASE1 Krithika Murali reviewed gene: DNASE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Systemic lupus erythematosus, susceptibility to} - MIM#152700; Mode of inheritance: None
Mendeliome v0.14291 DNAJC6 Krithika Murali reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset - MIM#615528, Parkinson disease 19b, early-onset - MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DNAJC5 Krithika Murali reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22978711, 21820099, 22235333, 31919451, 26659577; Phenotypes: Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350, ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14291 DNAJC3 Krithika Murali changed review comment from: Well-established association with monogenic diabetes with growth restriction, hypothyroidism, neuropathy, sensorineural hearing loss and cerebellar ataxia also reported affected individuals (PMID 33486469 Lytrvi et al 2021 report 2 additional families and summarise the phenotypic features of 4 previously reported families).; to: Well-established association with monogenic diabetes. Growth restriction, hypothyroidism, neuropathy, sensorineural hearing loss and cerebellar ataxia also reported in affected individuals (PMID 33486469 Lytrvi et al 2021 report 2 additional families and summarise the phenotypic features of 4 previously reported families).
Mendeliome v0.14291 DNAJC3 Krithika Murali reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33486469, 34630333, 34654017, 32738013; Phenotypes: ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DNAJC21 Krithika Murali reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3 - MIM#617052; Mode of inheritance: None
Mendeliome v0.14291 DNASE1L3 Krithika Murali reviewed gene: DNASE1L3: Rating: ; Mode of pathogenicity: None; Publications: 30008451, 22019780, 27821515; Phenotypes: Systemic lupus erythematosus 16 - MIM#614420; Mode of inheritance: None
Mendeliome v0.14291 DNM1L Krithika Murali reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR), Optic atrophy 5 - MIM#610708 (AD); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14291 DPY19L2 Krithika Murali reviewed gene: DPY19L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 9 - MIM#613958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DRAM2 Krithika Murali reviewed gene: DRAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983245, 29555955, 31394102; Phenotypes: Cone-rod dystrophy 21 - MIM#616502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DRD2 Krithika Murali reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14291 DRD3 Krithika Murali reviewed gene: DRD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Essential tremor, hereditary, 1} - MIM#190300, {Schizophrenia, susceptibility to} - MIM#181500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14291 DSCAM Krithika Murali Deleted their comment
Mendeliome v0.14291 DSCAM Krithika Murali edited their review of gene: DSCAM: Added comment: No OMIM gene disease association. Variants predominantly identified from large cohort studies with limited phenotypic information. Associations with ID, ASD, Hirschsprung disease reported. One homozygous splice site variant reported with no parental phenotypes provided.

PMID 34253863 Lim et al 2021 - 12 yo proband with severe autism spectrum disorder diagnosed age 3, de novo heterozygous c.2051 del p.(L684X) variant identified (absent from gnomAD). Skin fibroblast human iPSC cells generated from proband and healthy controls. Forebrain-like induced neuronal cells showed reduced mRNA expression for NMDA-R subunits.

PMID 28600779 Monies et al 2017 - Homozygous splice site variant identified in proband from consanguineous Saudi family. Proband had growth restriction, microcephaly, developmental delay. Parental phenotype not provided.

PMID 30095639 and PMID 23671607 - report association between DSCAM polymorphisms and Hirschsprung disease in Chinese and European populations.

PMID 27824329 Wang et al 2016 - 2 denovo mutations in mixed ID/ASD cohort of 1,045; including comparison of previously published cases 6 LOF out of 4,998 cases.

PMID 28191889 2 denovo LOF in 13,407 mixed ID/ASD cases plus 4 previosly published cases our ot 6158; conclude denovo LOF enriched in cases vs controls

PMID 21904980; mouse model – het LOF mice show hydrocephalus, decreased motor function and impaired motor learning ability,

Evidence for missense lacking currently; Changed publications: 34253863, 32807774, 28600779, 21904980, 28191889, 27824329, 30095639, 23671607
Mendeliome v0.14291 DSCAM Krithika Murali reviewed gene: DSCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 34253863, 32807774, 28600779; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14291 MTTP Zornitza Stark Marked gene: MTTP as ready
Mendeliome v0.14291 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Mendeliome v0.14291 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from to Abetalipoproteinaemia, MIM# 200100
Mendeliome v0.14290 MTTP Zornitza Stark Publications for gene: MTTP were set to
Mendeliome v0.14289 MTTP Zornitza Stark Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14288 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380, 34078172, 34052173, 33258201; Phenotypes: Abetalipoproteinaemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14288 MUT Zornitza Stark Marked gene: MUT as ready
Mendeliome v0.14288 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Mendeliome v0.14288 MUT Zornitza Stark Phenotypes for gene: MUT were changed from to Methylmalonic aciduria, mut(0) type, MIM# 251000
Mendeliome v0.14287 MUT Zornitza Stark Publications for gene: MUT were set to
Mendeliome v0.14286 MUT Zornitza Stark Mode of inheritance for gene: MUT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14285 MUT Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: 1977311, 11528502, 12948746; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14285 MVK Zornitza Stark Marked gene: MVK as ready
Mendeliome v0.14285 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Mendeliome v0.14285 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Mevalonic aciduria MIM# 610377
Mendeliome v0.14284 MVK Zornitza Stark Publications for gene: MVK were set to
Mendeliome v0.14283 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14282 MVK Zornitza Stark reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria MIM#610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14282 MXI1 Zornitza Stark Marked gene: MXI1 as ready
Mendeliome v0.14282 MXI1 Zornitza Stark Gene: mxi1 has been classified as Red List (Low Evidence).
Mendeliome v0.14282 MXI1 Zornitza Stark Classified gene: MXI1 as Red List (low evidence)
Mendeliome v0.14282 MXI1 Zornitza Stark Gene: mxi1 has been classified as Red List (Low Evidence).
Mendeliome v0.14281 MXI1 Zornitza Stark reviewed gene: MXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14281 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Mendeliome v0.14281 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Mendeliome v0.14281 MYD88 Zornitza Stark Phenotypes for gene: MYD88 were changed from to Immunodeficiency 68, MIM# 612260
Mendeliome v0.14280 MYD88 Zornitza Stark Publications for gene: MYD88 were set to
Mendeliome v0.14279 MYD88 Zornitza Stark Mode of inheritance for gene: MYD88 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14278 MYD88 Zornitza Stark reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14278 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Mendeliome v0.14278 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Mendeliome v0.14278 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from to Deafness, autosomal dominant 4A, MIM# 600652; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
Mendeliome v0.14277 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Mendeliome v0.14276 MYH14 Zornitza Stark Mode of inheritance for gene: MYH14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14275 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: 15015131, 25719458, 31045651, 28221712, 34681017, 21480433, 31653586, 31631044, 31231018; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652, Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14275 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Mendeliome v0.14275 MYH3 Zornitza Stark Gene: myh3 has been classified as Green List (High Evidence).
Mendeliome v0.14275 MYH3 Zornitza Stark Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
Mendeliome v0.14274 MYH3 Zornitza Stark Publications for gene: MYH3 were set to
Mendeliome v0.14273 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14272 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25957469, 26544689, 21531865, 18695058; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14272 MYO1E Zornitza Stark Marked gene: MYO1E as ready
Mendeliome v0.14272 MYO1E Zornitza Stark Gene: myo1e has been classified as Green List (High Evidence).
Mendeliome v0.14272 MYO1E Zornitza Stark Phenotypes for gene: MYO1E were changed from to Glomerulosclerosis, focal segmental, 6, MIM# 614131
Mendeliome v0.14271 MYO1E Zornitza Stark Publications for gene: MYO1E were set to
Mendeliome v0.14270 MYO1E Zornitza Stark Mode of inheritance for gene: MYO1E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14269 MYO1E Zornitza Stark reviewed gene: MYO1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21756023, 31520189, 25739341, 23977349; Phenotypes: Glomerulosclerosis, focal segmental, 6, MIM# 614131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14269 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Mendeliome v0.14269 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Mendeliome v0.14269 WNT1 Zornitza Stark Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV, MIM# 615220
Mendeliome v0.14268 WNT1 Zornitza Stark Publications for gene: WNT1 were set to
Mendeliome v0.14267 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14266 WNT1 Zornitza Stark reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23499309, 23499310, 23656646, 26671912; Phenotypes: Osteogenesis imperfecta, type XV, MIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14266 WNK4 Zornitza Stark Marked gene: WNK4 as ready
Mendeliome v0.14266 WNK4 Zornitza Stark Gene: wnk4 has been classified as Green List (High Evidence).
Mendeliome v0.14266 WNK4 Zornitza Stark Phenotypes for gene: WNK4 were changed from to Pseudohypoaldosteronism, type IIB, MIM# 614491
Mendeliome v0.14265 WNK4 Zornitza Stark Publications for gene: WNK4 were set to
Mendeliome v0.14264 WNK4 Zornitza Stark Mode of inheritance for gene: WNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14263 WNK4 Zornitza Stark reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 31044551; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM# 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14263 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Mendeliome v0.14263 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Mendeliome v0.14263 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from to Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309; Pseudohypoaldosteronism, type IIC, MIM# 614492
Mendeliome v0.14262 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Mendeliome v0.14261 WNK1 Zornitza Stark Mode of inheritance for gene: WNK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14260 WNK1 Zornitza Stark changed review comment from: Well established gene-disease association.

Note mono-allelic variants are associated with pseudohypoaldosteronism; to: Well established gene-disease associations.
Mendeliome v0.14260 WNK1 Zornitza Stark edited their review of gene: WNK1: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300, MONDO:0024309, Pseudohypoaldosteronism, type IIC, MIM# 614492; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14260 WDR4 Zornitza Stark Marked gene: WDR4 as ready
Mendeliome v0.14260 WDR4 Zornitza Stark Gene: wdr4 has been classified as Green List (High Evidence).
Mendeliome v0.14260 WDR4 Zornitza Stark Phenotypes for gene: WDR4 were changed from to Galloway-Mowat syndrome 6, OMIM #618347; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346
Mendeliome v0.14259 WDR4 Zornitza Stark Publications for gene: WDR4 were set to
Mendeliome v0.14258 WDR4 Zornitza Stark Mode of inheritance for gene: WDR4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14257 WDR4 Zornitza Stark reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26416026, 30079490, 29597095, 28617965; Phenotypes: Galloway-Mowat syndrome 6, OMIM #618347, Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14257 WDR36 Zornitza Stark Classified gene: WDR36 as Amber List (moderate evidence)
Mendeliome v0.14257 WDR36 Zornitza Stark Gene: wdr36 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14256 WDR36 Zornitza Stark changed review comment from: Multiple individuals reported.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad, and another, p.Ala449Thr is present in >2000.; to: Multiple individuals reported. Adult-onset.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad, and another, p.Ala449Thr is present in >2000.
Mendeliome v0.14256 WDR36 Zornitza Stark edited their review of gene: WDR36: Changed rating: AMBER
Mendeliome v0.14256 WDR36 Zornitza Stark edited their review of gene: WDR36: Changed publications: 15677485, 18172102, 20813748, 34681019, 29540704
Mendeliome v0.14256 WDR36 Zornitza Stark changed review comment from: Multiple individuals reported.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad.; to: Multiple individuals reported.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad, and another, p.Ala449Thr is present in >2000.
Mendeliome v0.14256 WDR36 Zornitza Stark Marked gene: WDR36 as ready
Mendeliome v0.14256 WDR36 Zornitza Stark Gene: wdr36 has been classified as Green List (High Evidence).
Mendeliome v0.14256 WDR36 Zornitza Stark Phenotypes for gene: WDR36 were changed from to Glaucoma 1, open angle, G, MIM# 609887
Mendeliome v0.14255 WDR36 Zornitza Stark Publications for gene: WDR36 were set to
Mendeliome v0.14254 WDR36 Zornitza Stark Mode of inheritance for gene: WDR36 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14253 WDR36 Zornitza Stark reviewed gene: WDR36: Rating: GREEN; Mode of pathogenicity: None; Publications: 15677485, 18172102, 20813748; Phenotypes: Glaucoma 1, open angle, G, MIM# 609887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14253 WASHC5 Zornitza Stark Marked gene: WASHC5 as ready
Mendeliome v0.14253 WASHC5 Zornitza Stark Gene: washc5 has been classified as Green List (High Evidence).
Mendeliome v0.14253 WASHC5 Zornitza Stark Phenotypes for gene: WASHC5 were changed from to Ritscher-Schinzel syndrome 1, MIM# 220210; Spastic paraplegia 8, autosomal dominant, MIM# 603563
Mendeliome v0.14252 WASHC5 Zornitza Stark Publications for gene: WASHC5 were set to
Mendeliome v0.14251 WASHC5 Zornitza Stark Mode of inheritance for gene: WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14250 WASHC5 Zornitza Stark reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160902, 23455931, 30778698, 24065355, 33456446; Phenotypes: Ritscher-Schinzel syndrome 1, MIM# 220210, Spastic paraplegia 8, autosomal dominant, MIM# 603563; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14250 WASF1 Zornitza Stark Marked gene: WASF1 as ready
Mendeliome v0.14250 WASF1 Zornitza Stark Gene: wasf1 has been classified as Green List (High Evidence).
Mendeliome v0.14250 WASF1 Zornitza Stark Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Mendeliome v0.14249 WASF1 Zornitza Stark Publications for gene: WASF1 were set to
Mendeliome v0.14248 WASF1 Zornitza Stark Mode of inheritance for gene: WASF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14247 WASF1 Zornitza Stark reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961568, 34845217, 34478686, 34356165; Phenotypes: Neurodevelopmental disorder with absent language and variable seizures , MIM#618707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14247 WAC Zornitza Stark Marked gene: WAC as ready
Mendeliome v0.14247 WAC Zornitza Stark Gene: wac has been classified as Green List (High Evidence).
Mendeliome v0.14247 WAC Zornitza Stark Phenotypes for gene: WAC were changed from to Desanto-Shinawi syndrome, MIM# 616708
Mendeliome v0.14246 WAC Zornitza Stark Publications for gene: WAC were set to
Mendeliome v0.14245 WAC Zornitza Stark Mode of inheritance for gene: WAC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14244 WAC Zornitza Stark reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26264232, 25356899, 35266333; Phenotypes: Desanto-Shinawi syndrome, MIM# 616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14244 RNASEH1 Belinda Chong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26094573, 31258551; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14244 FXYD2 Bryony Thompson Marked gene: FXYD2 as ready
Mendeliome v0.14244 FXYD2 Bryony Thompson Gene: fxyd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14244 FXYD2 Bryony Thompson Phenotypes for gene: FXYD2 were changed from to Renal hypomagnesemia 2 MONDO:0007937
Mendeliome v0.14243 FXYD2 Bryony Thompson Publications for gene: FXYD2 were set to
Mendeliome v0.14242 FXYD2 Bryony Thompson Mode of pathogenicity for gene: FXYD2 was changed from to Other
Mendeliome v0.14241 FXYD2 Bryony Thompson Mode of inheritance for gene: FXYD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14240 FXYD2 Bryony Thompson Classified gene: FXYD2 as Amber List (moderate evidence)
Mendeliome v0.14240 FXYD2 Bryony Thompson Gene: fxyd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14239 FXYD2 Bryony Thompson reviewed gene: FXYD2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 17980699, 12763862, 18448590, 11062458, 25765846, 27014088; Phenotypes: Renal hypomagnesemia 2 MONDO:0007937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14239 RIPPLY2 Zornitza Stark Marked gene: RIPPLY2 as ready
Mendeliome v0.14239 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Mendeliome v0.14239 RIPPLY2 Zornitza Stark Phenotypes for gene: RIPPLY2 were changed from to Spondylocostal dysostosis 6, MIM# 616566
Mendeliome v0.14238 RIPPLY2 Zornitza Stark Publications for gene: RIPPLY2 were set to
Mendeliome v0.14237 RIPPLY2 Zornitza Stark Mode of inheritance for gene: RIPPLY2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14236 RIPPLY2 Zornitza Stark edited their review of gene: RIPPLY2: Changed rating: GREEN
Mendeliome v0.14236 RIPPLY2 Zornitza Stark reviewed gene: RIPPLY2: Rating: ; Mode of pathogenicity: None; Publications: 25343988, 33410135, 32212228, 29761784; Phenotypes: Spondylocostal dysostosis 6, MIM# 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14236 FXN Bryony Thompson Marked gene: FXN as ready
Mendeliome v0.14236 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Mendeliome v0.14236 MYOC Zornitza Stark Marked gene: MYOC as ready
Mendeliome v0.14236 MYOC Zornitza Stark Gene: myoc has been classified as Green List (High Evidence).
Mendeliome v0.14236 MYOC Zornitza Stark Phenotypes for gene: MYOC were changed from to Glaucoma 1A, primary open angle, MIM# 137750
Mendeliome v0.14235 MYOC Zornitza Stark Publications for gene: MYOC were set to
Mendeliome v0.14234 MYOC Zornitza Stark Mode of inheritance for gene: MYOC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14233 MYOC Zornitza Stark reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9005853, 9535666, 15108121; Phenotypes: Glaucoma 1A, primary open angle, MIM# 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14233 MYOCD Zornitza Stark Mode of inheritance for gene: MYOCD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14232 MYOCD Zornitza Stark edited their review of gene: MYOCD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14232 MYOCD Zornitza Stark changed review comment from: Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females.

Seven affected males from three families. Five females and one male with the variant were unaffected, suggesting incomplete penetrance.

Additional family in PMID 35005812 as part of a large prenatal renal cohort.; to: Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females.

Seven affected males from three families. Five females and one male with the variant were unaffected, suggesting incomplete penetrance.

Additional family in PMID 35005812 as part of a large prenatal renal cohort.

Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).

Mouse models.
Mendeliome v0.14232 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Mendeliome v0.14232 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Mendeliome v0.14232 MYOCD Zornitza Stark Phenotypes for gene: MYOCD were changed from to Megabladder, congenital, MIM# 618719
Mendeliome v0.14231 MYOCD Zornitza Stark Publications for gene: MYOCD were set to
Mendeliome v0.14230 MYOCD Zornitza Stark Mode of inheritance for gene: MYOCD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14229 MYOCD Zornitza Stark edited their review of gene: MYOCD: Changed phenotypes: Megabladder, congenital, MIM# 618719
Mendeliome v0.14229 MYOCD Zornitza Stark reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513549, 35005812; Phenotypes: Megabladder, congenital, MIM3 618719; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14229 MYOT Zornitza Stark Marked gene: MYOT as ready
Mendeliome v0.14229 MYOT Zornitza Stark Gene: myot has been classified as Green List (High Evidence).
Mendeliome v0.14229 MYOT Zornitza Stark Phenotypes for gene: MYOT were changed from to Myopathy, myofibrillar, 3, MIM# 609200; Myopathy, spheroid body, MIM# 182920
Mendeliome v0.14228 MYOT Zornitza Stark Publications for gene: MYOT were set to
Mendeliome v0.14227 MYOT Zornitza Stark Mode of inheritance for gene: MYOT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14226 MYOT Zornitza Stark reviewed gene: MYOT: Rating: GREEN; Mode of pathogenicity: None; Publications: 10958653, 15111675, 16380616, 33250842, 32509353, 29924655; Phenotypes: Myopathy, myofibrillar, 3, MIM# 609200, Myopathy, spheroid body, MIM# 182920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14226 FXN Bryony Thompson Phenotypes for gene: FXN were changed from to Friedreich ataxia MONDO:0100339
Mendeliome v0.14225 FXN Bryony Thompson Publications for gene: FXN were set to
Mendeliome v0.14224 FXN Bryony Thompson Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14223 FXN Bryony Thompson edited their review of gene: FXN: Added comment: Well-established gene-disease association. 96% of cases are caused by biallelic intronic GAA triplet repeat expansion and 4% are attributable to biallelic single nucleotide variants and small indels. Loss of function is the mechanism of disease.; Changed rating: GREEN; Changed publications: 20301458, 26704351; Changed phenotypes: Friedreich ataxia MONDO:0100339; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes
Mendeliome v0.14223 RNF139 Belinda Chong reviewed gene: RNF139: Rating: RED; Mode of pathogenicity: None; Publications: 9689122; Phenotypes: Renal cell carcinoma MIM#144700; Mode of inheritance: Other
Mendeliome v0.14223 FUT8 Bryony Thompson Marked gene: FUT8 as ready
Mendeliome v0.14223 FUT8 Bryony Thompson Gene: fut8 has been classified as Green List (High Evidence).
Mendeliome v0.14223 FUT8 Bryony Thompson Phenotypes for gene: FUT8 were changed from to Congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020775
Mendeliome v0.14222 FUT8 Bryony Thompson Publications for gene: FUT8 were set to
Mendeliome v0.14221 FUT8 Bryony Thompson Mode of inheritance for gene: FUT8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14220 FUT8 Bryony Thompson reviewed gene: FUT8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29304374, 34389986, 32049367, 16236725; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14220 FUT1 Bryony Thompson Marked gene: FUT1 as ready
Mendeliome v0.14220 FUT1 Bryony Thompson Gene: fut1 has been classified as Red List (Low Evidence).
Mendeliome v0.14220 FUT1 Bryony Thompson Phenotypes for gene: FUT1 were changed from to [Bombay phenotype] MIM#616754
Mendeliome v0.14219 FUT1 Bryony Thompson Classified gene: FUT1 as Red List (low evidence)
Mendeliome v0.14219 FUT1 Bryony Thompson Added comment: Comment on list classification: Biallelic loss of function variants produce the Bombay blood group, which is a recessive H-deficient red blood cell phenotype. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion. No evidence for Mendelian disease associated with this gene.
Mendeliome v0.14219 FUT1 Bryony Thompson Gene: fut1 has been classified as Red List (Low Evidence).
Mendeliome v0.14218 FUT1 Bryony Thompson Deleted their comment
Mendeliome v0.14218 FUT1 Bryony Thompson Publications for gene: FUT1 were set to
Mendeliome v0.14217 FUT1 Bryony Thompson Classified gene: FUT1 as Red List (low evidence)
Mendeliome v0.14217 FUT1 Bryony Thompson Added comment: Comment on list classification: Biallelic loss of function variants cause Bombay phenotype, which is a recessive H-deficient red blood cell phenotype. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion. No evidence for Mendelian disease associated with this gene.
Mendeliome v0.14217 FUT1 Bryony Thompson Gene: fut1 has been classified as Red List (Low Evidence).
Mendeliome v0.14216 FUT1 Bryony Thompson Mode of inheritance for gene: FUT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14215 FSHR Bryony Thompson Marked gene: FSHR as ready
Mendeliome v0.14215 FSHR Bryony Thompson Gene: fshr has been classified as Green List (High Evidence).
Mendeliome v0.14215 FTO Bryony Thompson Marked gene: FTO as ready
Mendeliome v0.14215 FTO Bryony Thompson Gene: fto has been classified as Green List (High Evidence).
Mendeliome v0.14215 FTO Bryony Thompson Publications for gene: FTO were set to
Mendeliome v0.14214 FTO Bryony Thompson Phenotypes for gene: FTO were changed from to Growth retardation, developmental delay, facial dysmorphism MIM#612938
Mendeliome v0.14213 FTO Bryony Thompson Mode of inheritance for gene: FTO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14212 FTO Bryony Thompson reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14212 RIMS1 Zornitza Stark Marked gene: RIMS1 as ready
Mendeliome v0.14212 RIMS1 Zornitza Stark Gene: rims1 has been classified as Green List (High Evidence).
Mendeliome v0.14212 RIMS1 Zornitza Stark Phenotypes for gene: RIMS1 were changed from to Cone-rod dystrophy 7 , MIM#603649; Autism MONDO:0005260
Mendeliome v0.14211 RIMS1 Zornitza Stark Publications for gene: RIMS1 were set to
Mendeliome v0.14210 RIMS1 Zornitza Stark Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14209 RIMS1 Zornitza Stark reviewed gene: RIMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12659814, 25284784, 25961944; Phenotypes: Cone-rod dystrophy 7 , MIM#603649, Autism MONDO:0005260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14209 RHEB Zornitza Stark Marked gene: RHEB as ready
Mendeliome v0.14209 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Mendeliome v0.14209 FSHR Bryony Thompson Phenotypes for gene: FSHR were changed from to Ovarian dysgenesis 1 MONDO:0024463; Ovarian hyperstimulation syndrome MONDO:0011972
Mendeliome v0.14208 RHEB Zornitza Stark Phenotypes for gene: RHEB were changed from to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia
Mendeliome v0.14207 RHEB Zornitza Stark Publications for gene: RHEB were set to
Mendeliome v0.14206 RHEB Zornitza Stark Mode of inheritance for gene: RHEB was changed from Unknown to Other
Mendeliome v0.14205 RHEB Zornitza Stark reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related, Intellectual disability, Macrocephaly, Focal cortical dysplasia; Mode of inheritance: Other
Mendeliome v0.14205 FSHR Bryony Thompson Publications for gene: FSHR were set to
Mendeliome v0.14204 FSHR Bryony Thompson Mode of inheritance for gene: FSHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14203 FSHR Bryony Thompson reviewed gene: FSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16630814, 7553856, 9020851, 9769327, 20087398, 9854118, 12930928, 12930927, 17721928, 26911863; Phenotypes: Ovarian dysgenesis 1 MONDO:0024463, Ovarian hyperstimulation syndrome MONDO:0011972; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14203 RHCE Zornitza Stark Marked gene: RHCE as ready
Mendeliome v0.14203 RHCE Zornitza Stark Gene: rhce has been classified as Green List (High Evidence).
Mendeliome v0.14203 RHCE Zornitza Stark Phenotypes for gene: RHCE were changed from to Rh-null disease, amorph type, MIM# 617970
Mendeliome v0.14202 RHCE Zornitza Stark Publications for gene: RHCE were set to
Mendeliome v0.14201 RHCE Zornitza Stark Mode of inheritance for gene: RHCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14200 RHCE Zornitza Stark reviewed gene: RHCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 9657766, 16271106, 25413218; Phenotypes: Rh-null disease, amorph type, MIM# 617970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14200 RGS9BP Zornitza Stark Marked gene: RGS9BP as ready
Mendeliome v0.14200 RGS9BP Zornitza Stark Gene: rgs9bp has been classified as Green List (High Evidence).
Mendeliome v0.14200 RGS9BP Zornitza Stark Phenotypes for gene: RGS9BP were changed from to Bradyopsia, MIM# 608415
Mendeliome v0.14199 RGS9BP Zornitza Stark Publications for gene: RGS9BP were set to
Mendeliome v0.14198 RGS9BP Zornitza Stark Mode of inheritance for gene: RGS9BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14197 RGS9BP Zornitza Stark reviewed gene: RGS9BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 14702087, 19818506; Phenotypes: Bradyopsia, MIM# 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14197 RGS9 Zornitza Stark Marked gene: RGS9 as ready
Mendeliome v0.14197 RGS9 Zornitza Stark Gene: rgs9 has been classified as Green List (High Evidence).
Mendeliome v0.14197 RGS9 Zornitza Stark Phenotypes for gene: RGS9 were changed from to Bradyopsia, MIM# 608415
Mendeliome v0.14196 RGS9 Zornitza Stark Publications for gene: RGS9 were set to
Mendeliome v0.14195 RGS9 Zornitza Stark Mode of inheritance for gene: RGS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14194 RGS9 Zornitza Stark reviewed gene: RGS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 14702087, 10676965, 19818506; Phenotypes: Bradyopsia, MIM# 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14194 RFX6 Zornitza Stark reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM# 615710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14194 RFX6 Zornitza Stark Marked gene: RFX6 as ready
Mendeliome v0.14194 RFX6 Zornitza Stark Gene: rfx6 has been classified as Green List (High Evidence).
Mendeliome v0.14194 RFX6 Zornitza Stark Phenotypes for gene: RFX6 were changed from to Mitchell-Riley syndrome, MIM# 615710
Mendeliome v0.14193 RFX6 Zornitza Stark Publications for gene: RFX6 were set to
Mendeliome v0.14192 SEMA7A Zornitza Stark Phenotypes for gene: SEMA7A were changed from Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis to Decreased bone mineral density; Kallmann syndrome; Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874
Mendeliome v0.14191 SEMA7A Zornitza Stark edited their review of gene: SEMA7A: Changed rating: AMBER; Changed phenotypes: Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14191 FXYD6 Bryony Thompson Marked gene: FXYD6 as ready
Mendeliome v0.14191 FXYD6 Bryony Thompson Gene: fxyd6 has been classified as Red List (Low Evidence).
Mendeliome v0.14191 FXYD6 Bryony Thompson Phenotypes for gene: FXYD6 were changed from to Schizophrenia MONDO:0005090
Mendeliome v0.14190 FXYD6 Bryony Thompson Publications for gene: FXYD6 were set to
Mendeliome v0.14189 FXYD6 Bryony Thompson Classified gene: FXYD6 as Red List (low evidence)
Mendeliome v0.14189 FXYD6 Bryony Thompson Gene: fxyd6 has been classified as Red List (Low Evidence).
Mendeliome v0.14188 FXYD6 Bryony Thompson reviewed gene: FXYD6: Rating: RED; Mode of pathogenicity: None; Publications: 17357072, 26193471, 29895895; Phenotypes: Schizophrenia MONDO:0005090; Mode of inheritance: None
Mendeliome v0.14188 FZD2 Bryony Thompson Marked gene: FZD2 as ready
Mendeliome v0.14188 FZD2 Bryony Thompson Gene: fzd2 has been classified as Green List (High Evidence).
Mendeliome v0.14188 FZD2 Bryony Thompson Phenotypes for gene: FZD2 were changed from to Autosomal dominant omodysplasia MONDO:0008123
Mendeliome v0.14187 FZD2 Bryony Thompson Publications for gene: FZD2 were set to
Mendeliome v0.14186 FBP2 Zornitza Stark Marked gene: FBP2 as ready
Mendeliome v0.14186 FBP2 Zornitza Stark Gene: fbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14186 FBP2 Zornitza Stark Classified gene: FBP2 as Amber List (moderate evidence)
Mendeliome v0.14186 FBP2 Zornitza Stark Gene: fbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14185 FBP2 Zornitza Stark gene: FBP2 was added
gene: FBP2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBP2 were set to 33977262
Phenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# 619864
Review for gene: FBP2 was set to AMBER
Added comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging. Some functional data presented (in vitro).
Sources: Expert list
Mendeliome v0.14184 TLR7 Zornitza Stark Phenotypes for gene: TLR7 were changed from Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051; Systemic lupus erythematosus 17, MIM# 301080
Mendeliome v0.14183 TLR7 Zornitza Stark Publications for gene: TLR7 were set to 32706371
Mendeliome v0.14182 TLR7 Zornitza Stark Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.14181 TLR7 Zornitza Stark changed review comment from: Four affected individuals from two unrelated families and some functional data.; to: Immunodeficiency: Four affected individuals from two unrelated families and some functional data.
Mendeliome v0.14181 TLR7 Zornitza Stark edited their review of gene: TLR7: Added comment: SLE
XLD: only affected females reported; 4 individuals from three unrelated families. Mouse model.; Changed publications: 32706371, 35477763; Changed phenotypes: Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051, Systemic lupus erythematosus 17, MIM# 301080; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.14181 MOV10L1 Zornitza Stark Marked gene: MOV10L1 as ready
Mendeliome v0.14181 MOV10L1 Zornitza Stark Gene: mov10l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14181 MOV10L1 Zornitza Stark Classified gene: MOV10L1 as Amber List (moderate evidence)
Mendeliome v0.14181 MOV10L1 Zornitza Stark Gene: mov10l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14180 MOV10L1 Zornitza Stark gene: MOV10L1 was added
gene: MOV10L1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MOV10L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOV10L1 were set to 35476666; 20534472
Phenotypes for gene: MOV10L1 were set to Spermatogenic failure 73, MIM#619878
Review for gene: MOV10L1 was set to AMBER
Added comment: Two unrelated individuals and a mouse model.
Sources: Expert list
Mendeliome v0.14179 RFX6 Zornitza Stark Mode of inheritance for gene: RFX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14178 RFC2 Zornitza Stark Marked gene: RFC2 as ready
Mendeliome v0.14178 RFC2 Zornitza Stark Gene: rfc2 has been classified as Red List (Low Evidence).
Mendeliome v0.14178 RFC2 Zornitza Stark Classified gene: RFC2 as Red List (low evidence)
Mendeliome v0.14178 RFC2 Zornitza Stark Gene: rfc2 has been classified as Red List (Low Evidence).
Mendeliome v0.14177 RFC2 Zornitza Stark reviewed gene: RFC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14177 REST Zornitza Stark Marked gene: REST as ready
Mendeliome v0.14177 REST Zornitza Stark Gene: rest has been classified as Green List (High Evidence).
Mendeliome v0.14177 REST Zornitza Stark Phenotypes for gene: REST were changed from to Deafness, autosomal dominant 27, MIM# 612431; {Wilms tumor 6, susceptibility to}, MIM# 616806; Fibromatosis, gingival, 5, MIM# 617626
Mendeliome v0.14176 REST Zornitza Stark Publications for gene: REST were set to
Mendeliome v0.14175 REST Zornitza Stark Mode of inheritance for gene: REST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14174 REST Zornitza Stark reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961578, 34828371, 26551668, 28686854; Phenotypes: Deafness, autosomal dominant 27, MIM# 612431, {Wilms tumor 6, susceptibility to}, MIM# 616806, Fibromatosis, gingival, 5, MIM# 617626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14174 REEP6 Zornitza Stark Marked gene: REEP6 as ready
Mendeliome v0.14174 REEP6 Zornitza Stark Gene: reep6 has been classified as Green List (High Evidence).
Mendeliome v0.14174 REEP6 Zornitza Stark Phenotypes for gene: REEP6 were changed from to Retinitis pigmentosa 77, MIM# 617304
Mendeliome v0.14173 REEP6 Zornitza Stark Publications for gene: REEP6 were set to
Mendeliome v0.14172 RP1 Belinda Chong reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391211, 10465120, 10465120, 10484783, 29425069, 31213501; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14172 REEP6 Zornitza Stark Mode of inheritance for gene: REEP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14171 REEP6 Zornitza Stark reviewed gene: REEP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889058, 33917198, 31538292, 29120066, 28475715; Phenotypes: Retinitis pigmentosa 77, MIM# 617304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14171 RCBTB1 Zornitza Stark Marked gene: RCBTB1 as ready
Mendeliome v0.14171 RCBTB1 Zornitza Stark Gene: rcbtb1 has been classified as Green List (High Evidence).
Mendeliome v0.14171 RCBTB1 Zornitza Stark Phenotypes for gene: RCBTB1 were changed from to Retinal dystrophy with or without extraocular anomalies, MIM# 617175
Mendeliome v0.14170 RCBTB1 Zornitza Stark Publications for gene: RCBTB1 were set to
Mendeliome v0.14169 RCBTB1 Zornitza Stark Mode of inheritance for gene: RCBTB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14168 RCBTB1 Zornitza Stark reviewed gene: RCBTB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486781, 35057699, 33624564, 33104391; Phenotypes: Retinal dystrophy with or without extraocular anomalies, MIM# 617175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14168 FZD2 Bryony Thompson Mode of inheritance for gene: FZD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14167 FZD2 Bryony Thompson reviewed gene: FZD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25759469, 30455931, 29383834, 29230162; Phenotypes: Autosomal dominant omodysplasia MONDO:0008123; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14167 FSHB Bryony Thompson Marked gene: FSHB as ready
Mendeliome v0.14167 FSHB Bryony Thompson Gene: fshb has been classified as Green List (High Evidence).
Mendeliome v0.14167 FSHB Bryony Thompson Phenotypes for gene: FSHB were changed from to Hypogonadotropic hypogonadism 24 without anosmia MONDO:0009239
Mendeliome v0.14166 FSHB Bryony Thompson Publications for gene: FSHB were set to
Mendeliome v0.14165 FSHB Bryony Thompson Mode of inheritance for gene: FSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14164 FSHB Bryony Thompson reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8220432, 9280841, 9624193, 9806482, 9271483, 16630814; Phenotypes: Hypogonadotropic hypogonadism 24 without anosmia MONDO:0009239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14164 FRZB Bryony Thompson Marked gene: FRZB as ready
Mendeliome v0.14164 FRZB Bryony Thompson Gene: frzb has been classified as Red List (Low Evidence).
Mendeliome v0.14164 FRZB Bryony Thompson Phenotypes for gene: FRZB were changed from to {Osteoarthritis susceptibility 1} MIM#165720
Mendeliome v0.14163 FRRS1L Bryony Thompson Marked gene: FRRS1L as ready
Mendeliome v0.14163 FRRS1L Bryony Thompson Gene: frrs1l has been classified as Green List (High Evidence).
Mendeliome v0.14163 FRRS1L Bryony Thompson Phenotypes for gene: FRRS1L were changed from to Developmental and epileptic encephalopathy, 37 MONDO:0014859
Mendeliome v0.14162 FRZB Bryony Thompson Publications for gene: FRZB were set to
Mendeliome v0.14161 FRZB Bryony Thompson Classified gene: FRZB as Red List (low evidence)
Mendeliome v0.14161 FRZB Bryony Thompson Gene: frzb has been classified as Red List (Low Evidence).
Mendeliome v0.14160 FRRS1L Bryony Thompson Publications for gene: FRRS1L were set to
Mendeliome v0.14159 FRRS1L Bryony Thompson Mode of inheritance for gene: FRRS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14158 FRZB Bryony Thompson reviewed gene: FRZB: Rating: RED; Mode of pathogenicity: None; Publications: 15210948; Phenotypes: {Osteoarthritis susceptibility 1} MIM#165720; Mode of inheritance: Unknown
Mendeliome v0.14158 FRRS1L Bryony Thompson reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236917, 27239025, 30692144; Phenotypes: Developmental and epileptic encephalopathy, 37 MONDO:0014859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14158 FOXN1 Bryony Thompson Marked gene: FOXN1 as ready
Mendeliome v0.14158 FOXN1 Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence).
Mendeliome v0.14158 RBPJ Zornitza Stark Marked gene: RBPJ as ready
Mendeliome v0.14158 RBPJ Zornitza Stark Gene: rbpj has been classified as Green List (High Evidence).
Mendeliome v0.14158 RBPJ Zornitza Stark Phenotypes for gene: RBPJ were changed from to Adams-Oliver syndrome 3, MIM# 614814
Mendeliome v0.14157 FOXN1 Bryony Thompson Phenotypes for gene: FOXN1 were changed from to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0011132
Mendeliome v0.14156 RBPJ Zornitza Stark Publications for gene: RBPJ were set to
Mendeliome v0.14155 RBPJ Zornitza Stark Mode of inheritance for gene: RBPJ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14154 RBPJ Zornitza Stark reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883147, 29924900; Phenotypes: Adams-Oliver syndrome 3, MIM# 614814; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14154 FOXN1 Bryony Thompson Publications for gene: FOXN1 were set to
Mendeliome v0.14153 FOXN1 Bryony Thompson Mode of inheritance for gene: FOXN1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14152 FOXN1 Bryony Thompson reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10206641, 20978268, 20978268, 28636882, 31566583, 31447097; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0011132; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14152 FOXI1 Bryony Thompson Marked gene: FOXI1 as ready
Mendeliome v0.14152 FOXI1 Bryony Thompson Gene: foxi1 has been classified as Green List (High Evidence).
Mendeliome v0.14152 FOXI1 Bryony Thompson Phenotypes for gene: FOXI1 were changed from to autosomal recessive distal renal tubular acidosis MONDO:0018440
Mendeliome v0.14151 FOXI1 Bryony Thompson Publications for gene: FOXI1 were set to
Mendeliome v0.14150 FOXI1 Bryony Thompson Mode of inheritance for gene: FOXI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14149 FOXI1 Bryony Thompson reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843211, 12642503, 29242249, 17503324, 30268946, 27997596, 22285650, 23965030, 24860705, 32447495, 19204907; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14149 FOXD3 Bryony Thompson Marked gene: FOXD3 as ready
Mendeliome v0.14149 FOXD3 Bryony Thompson Gene: foxd3 has been classified as Red List (Low Evidence).
Mendeliome v0.14149 FOXD3 Bryony Thompson Phenotypes for gene: FOXD3 were changed from to Autoimmune disease, susceptibility to, 1 MONDO:0011919
Mendeliome v0.14148 FOXD3 Bryony Thompson Publications for gene: FOXD3 were set to
Mendeliome v0.14147 FOXD3 Bryony Thompson Classified gene: FOXD3 as Red List (low evidence)
Mendeliome v0.14147 FOXD3 Bryony Thompson Gene: foxd3 has been classified as Red List (Low Evidence).
Mendeliome v0.14146 FOXD3 Bryony Thompson reviewed gene: FOXD3: Rating: RED; Mode of pathogenicity: None; Publications: 16098053; Phenotypes: Autoimmune disease, susceptibility to, 1 MONDO:0011919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14146 FMR1 Bryony Thompson Marked gene: FMR1 as ready
Mendeliome v0.14146 FMR1 Bryony Thompson Gene: fmr1 has been classified as Green List (High Evidence).
Mendeliome v0.14146 FMR1 Bryony Thompson Phenotypes for gene: FMR1 were changed from to Fragile X syndrome MONDO:0010383
Mendeliome v0.14145 RBP3 Zornitza Stark Marked gene: RBP3 as ready
Mendeliome v0.14145 RBP3 Zornitza Stark Gene: rbp3 has been classified as Green List (High Evidence).
Mendeliome v0.14145 RBP3 Zornitza Stark Phenotypes for gene: RBP3 were changed from to Retinitis pigmentosa 66, MIM# 615233
Mendeliome v0.14144 RBP3 Zornitza Stark Publications for gene: RBP3 were set to
Mendeliome v0.14143 RBP3 Zornitza Stark Mode of inheritance for gene: RBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14142 RBP3 Zornitza Stark reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19074801, 29571629, 26066594, 25766589; Phenotypes: Retinitis pigmentosa 66, MIM# 615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14142 RBM28 Zornitza Stark Marked gene: RBM28 as ready
Mendeliome v0.14142 RBM28 Zornitza Stark Gene: rbm28 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14142 RBM28 Zornitza Stark Phenotypes for gene: RBM28 were changed from to Alopecia, neurologic defects, and endocrinopathy syndrome (MIM#612079)
Mendeliome v0.14141 RBM28 Zornitza Stark Publications for gene: RBM28 were set to
Mendeliome v0.14140 RBM28 Zornitza Stark Mode of inheritance for gene: RBM28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14139 RBM28 Zornitza Stark Classified gene: RBM28 as Amber List (moderate evidence)
Mendeliome v0.14139 RBM28 Zornitza Stark Gene: rbm28 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14138 RASGRP2 Zornitza Stark Marked gene: RASGRP2 as ready
Mendeliome v0.14138 RASGRP2 Zornitza Stark Gene: rasgrp2 has been classified as Green List (High Evidence).
Mendeliome v0.14138 RASGRP2 Zornitza Stark Phenotypes for gene: RASGRP2 were changed from to Bleeding disorder, platelet-type, 18 (MIM#615888)
Mendeliome v0.14137 RASGRP2 Zornitza Stark Publications for gene: RASGRP2 were set to
Mendeliome v0.14136 RASGRP2 Zornitza Stark Mode of inheritance for gene: RASGRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14135 RBM28 Crystle Lee reviewed gene: RBM28: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439547, 33941690, 27077951; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome (MIM#612079); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14135 RASGRP2 Crystle Lee reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28762304, 27663674, 28637664, 27235135; Phenotypes: Bleeding disorder, platelet-type, 18 (MIM#615888); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14135 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Mendeliome v0.14135 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Mendeliome v0.14135 SCN2A Zornitza Stark Publications for gene: SCN2A were set to
Mendeliome v0.14134 SCN2A Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.

Multiple families reported.
Mendeliome v0.14134 SCN2A Zornitza Stark edited their review of gene: SCN2A: Changed publications: 19786696, 23662938, 15028761, 30185235, 20956790, 24650168, 23935176, 22495306
Mendeliome v0.14134 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from to Episodic ataxia, type 9, MIM# 618924; Seizures, benign familial infantile, 3, MIM# 607745; Developmental and epileptic encephalopathy 11, MIM# 613721
Mendeliome v0.14133 SCN2A Zornitza Stark Mode of inheritance for gene: SCN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14132 SCN2A Zornitza Stark edited their review of gene: SCN2A: Changed phenotypes: Episodic ataxia, type 9, MIM# 618924, Seizures, benign familial infantile, 3, MIM# 607745, Developmental and epileptic encephalopathy 11, MIM# 613721
Mendeliome v0.14132 SCN2A Zornitza Stark Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14131 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Mendeliome v0.14131 SCN9A Zornitza Stark Gene: scn9a has been classified as Green List (High Evidence).
Mendeliome v0.14131 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020
Mendeliome v0.14130 SCN9A Zornitza Stark Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14129 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Mendeliome v0.14129 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Mendeliome v0.14129 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Mendeliome v0.14128 SLC22A5 Zornitza Stark Publications for gene: SLC22A5 were set to
Mendeliome v0.14127 SLC22A5 Zornitza Stark Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14126 SLC22A12 Zornitza Stark Marked gene: SLC22A12 as ready
Mendeliome v0.14126 SLC22A12 Zornitza Stark Gene: slc22a12 has been classified as Green List (High Evidence).
Mendeliome v0.14126 SLC22A12 Zornitza Stark Phenotypes for gene: SLC22A12 were changed from to Hypouricemia, renal, MIM# 220150, MONDO:0020728
Mendeliome v0.14125 SLC22A12 Zornitza Stark Publications for gene: SLC22A12 were set to
Mendeliome v0.14124 SLC22A12 Zornitza Stark Mode of inheritance for gene: SLC22A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14123 SLC1A2 Zornitza Stark Marked gene: SLC1A2 as ready
Mendeliome v0.14123 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Mendeliome v0.14123 SLC1A2 Zornitza Stark Phenotypes for gene: SLC1A2 were changed from to Developmental and epileptic encephalopathy 41, MIM# 617105
Mendeliome v0.14122 SLC1A2 Zornitza Stark Publications for gene: SLC1A2 were set to
Mendeliome v0.14121 SLC1A2 Zornitza Stark Mode of pathogenicity for gene: SLC1A2 was changed from to Other
Mendeliome v0.14120 SLC1A2 Zornitza Stark Mode of inheritance for gene: SLC1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14119 SLC1A2 Zornitza Stark reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476654, 28777935, 30937933, 23934111; Phenotypes: Developmental and epileptic encephalopathy 41, MIM# 617105; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14119 SLC1A1 Zornitza Stark Marked gene: SLC1A1 as ready
Mendeliome v0.14119 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14119 SLC1A1 Zornitza Stark Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria, MIM# 222730
Mendeliome v0.14118 SLC1A1 Zornitza Stark Publications for gene: SLC1A1 were set to
Mendeliome v0.14117 SLC1A1 Zornitza Stark Mode of inheritance for gene: SLC1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14116 SLC1A1 Zornitza Stark Classified gene: SLC1A1 as Amber List (moderate evidence)
Mendeliome v0.14116 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14115 SLC1A1 Zornitza Stark reviewed gene: SLC1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21123949; Phenotypes: Dicarboxylic aminoaciduria, MIM# 222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14115 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Mendeliome v0.14115 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Mendeliome v0.14115 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Mendeliome v0.14114 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Mendeliome v0.14113 SLC19A3 Zornitza Stark Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14112 SLC19A3 Zornitza Stark reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15871139, 20065143, 23482991, 24878502, 23589815, 24166474, 26975589, 27896110; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14112 SLC17A8 Zornitza Stark Marked gene: SLC17A8 as ready
Mendeliome v0.14112 SLC17A8 Zornitza Stark Gene: slc17a8 has been classified as Green List (High Evidence).
Mendeliome v0.14112 SLC17A8 Zornitza Stark Phenotypes for gene: SLC17A8 were changed from to Deafness, autosomal dominant 25, MIM# 605583
Mendeliome v0.14111 SLC17A8 Zornitza Stark Publications for gene: SLC17A8 were set to
Mendeliome v0.14110 SLC17A8 Zornitza Stark Mode of inheritance for gene: SLC17A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14109 SLC17A8 Zornitza Stark reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674745, 26797701, 28647561; Phenotypes: Deafness, autosomal dominant 25, MIM# 605583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14109 SLC17A3 Zornitza Stark Marked gene: SLC17A3 as ready
Mendeliome v0.14109 SLC17A3 Zornitza Stark Gene: slc17a3 has been classified as Red List (Low Evidence).
Mendeliome v0.14109 SLC17A3 Zornitza Stark Phenotypes for gene: SLC17A3 were changed from to [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671
Mendeliome v0.14108 SLC17A3 Zornitza Stark Publications for gene: SLC17A3 were set to
Mendeliome v0.14107 SLC17A3 Zornitza Stark Mode of inheritance for gene: SLC17A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14106 SLC17A3 Zornitza Stark Classified gene: SLC17A3 as Red List (low evidence)
Mendeliome v0.14106 SLC17A3 Zornitza Stark Gene: slc17a3 has been classified as Red List (Low Evidence).
Mendeliome v0.14105 SLC16A1 Zornitza Stark Marked gene: SLC16A1 as ready
Mendeliome v0.14105 SLC16A1 Zornitza Stark Gene: slc16a1 has been classified as Green List (High Evidence).
Mendeliome v0.14105 SLC16A1 Zornitza Stark Phenotypes for gene: SLC16A1 were changed from to Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095
Mendeliome v0.14104 SLC16A1 Zornitza Stark Publications for gene: SLC16A1 were set to
Mendeliome v0.14103 SLC16A1 Zornitza Stark Mode of inheritance for gene: SLC16A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14102 SLC16A1 Zornitza Stark reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25390740, 32170320; Phenotypes: Erythrocyte lactate transporter defect, MIM# 245340, Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021, Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14102 SLC11A2 Zornitza Stark Marked gene: SLC11A2 as ready
Mendeliome v0.14102 SLC11A2 Zornitza Stark Gene: slc11a2 has been classified as Green List (High Evidence).
Mendeliome v0.14102 SLC11A2 Zornitza Stark Phenotypes for gene: SLC11A2 were changed from to Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100
Mendeliome v0.14101 SLC11A2 Zornitza Stark Publications for gene: SLC11A2 were set to
Mendeliome v0.14100 SLC11A2 Zornitza Stark Mode of inheritance for gene: SLC11A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14099 SH2D1A Zornitza Stark Marked gene: SH2D1A as ready
Mendeliome v0.14099 SH2D1A Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence).
Mendeliome v0.14099 SH2D1A Zornitza Stark Phenotypes for gene: SH2D1A were changed from to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Mendeliome v0.14098 SH2D1A Zornitza Stark Publications for gene: SH2D1A were set to
Mendeliome v0.14097 SH2D1A Zornitza Stark Mode of inheritance for gene: SH2D1A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14096 SH2D1A Zornitza Stark reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14096 SGCG Zornitza Stark Marked gene: SGCG as ready
Mendeliome v0.14096 SGCG Zornitza Stark Gene: sgcg has been classified as Green List (High Evidence).
Mendeliome v0.14096 SGCG Zornitza Stark Phenotypes for gene: SGCG were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Mendeliome v0.14095 SGCG Zornitza Stark Publications for gene: SGCG were set to
Mendeliome v0.14094 SGCG Zornitza Stark Mode of inheritance for gene: SGCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14093 FMR1 Bryony Thompson Publications for gene: FMR1 were set to
Mendeliome v0.14092 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Mendeliome v0.14092 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Mendeliome v0.14092 FLVCR1 Bryony Thompson Phenotypes for gene: FLVCR1 were changed from to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177
Mendeliome v0.14091 FLNC Bryony Thompson Marked gene: FLNC as ready
Mendeliome v0.14091 FLNC Bryony Thompson Gene: flnc has been classified as Green List (High Evidence).
Mendeliome v0.14091 FMR1 Bryony Thompson Mode of inheritance for gene: FMR1 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)
Mendeliome v0.14090 FMR1 Bryony Thompson reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8156595, 28176767, 29178241; Phenotypes: Fragile X syndrome MONDO:0010383; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.14090 FLVCR1 Bryony Thompson Publications for gene: FLVCR1 were set to
Mendeliome v0.14089 FLVCR1 Bryony Thompson Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14088 FLNC Bryony Thompson Phenotypes for gene: FLNC were changed from to Myofibrillar myopathy MONDO:0018943; Dilated cardiomyopathy MONDO:0005021; distal myopathy with posterior leg and anterior hand involvement MONDO:0013550
Mendeliome v0.14087 FLVCR1 Bryony Thompson edited their review of gene: FLVCR1: Added comment: At least 5 unrelated families reported with visual impairment and ataxia. Onset is usually in childhood.; Changed publications: 21070897, 22279524, 21267618; Changed phenotypes: posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; Set current diagnostic: yes
Mendeliome v0.14087 FLVCR1 Bryony Thompson Deleted their comment
Mendeliome v0.14087 FLNC Bryony Thompson Publications for gene: FLNC were set to
Mendeliome v0.14086 FLNC Bryony Thompson Mode of inheritance for gene: FLNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14085 FLNC Bryony Thompson reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15929027, 32112656; Phenotypes: Myofibrillar myopathy MONDO:0018943, Dilated cardiomyopathy MONDO:0005021, distal myopathy with posterior leg and anterior hand involvement MONDO:0013550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.14085 FLNB Bryony Thompson edited their review of gene: FLNB: Changed phenotypes: spondylocarpotarsal synostosis syndrome MONDO:0010094, filamin-related bone disorder MONDO:0019690
Mendeliome v0.14085 FLNB Bryony Thompson edited their review of gene: FLNB: Changed phenotypes: filamin-related bone disorder MONDO:0019690
Mendeliome v0.14085 FLNB Bryony Thompson Phenotypes for gene: FLNB were changed from spondylocarpotarsal synostosis syndrome MONDO:0010094; osteochondrodysplasia MONDO:0005516 to spondylocarpotarsal synostosis syndrome MONDO:0010094; filamin-related bone disorder MONDO:0019690
Mendeliome v0.14084 FLNB Bryony Thompson Marked gene: FLNB as ready
Mendeliome v0.14084 FLNB Bryony Thompson Gene: flnb has been classified as Green List (High Evidence).
Mendeliome v0.14084 FLNB Bryony Thompson Phenotypes for gene: FLNB were changed from to spondylocarpotarsal synostosis syndrome MONDO:0010094; osteochondrodysplasia MONDO:0005516
Mendeliome v0.14083 FLNB Bryony Thompson Publications for gene: FLNB were set to
Mendeliome v0.14082 FLNB Bryony Thompson Mode of inheritance for gene: FLNB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14081 FLNB Bryony Thompson reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: 14991055, 17360453, 20301736, 29566257, 16801345, 22190451; Phenotypes: spondylocarpotarsal synostosis syndrome MONDO:0010094, osteochondrodysplasia MONDO:0005516; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14081 FLI1 Bryony Thompson Marked gene: FLI1 as ready
Mendeliome v0.14081 FLI1 Bryony Thompson Gene: fli1 has been classified as Green List (High Evidence).
Mendeliome v0.14081 FLI1 Bryony Thompson Phenotypes for gene: FLI1 were changed from to Bleeding disorder, platelet-type, 21 MONDO:0054577
Mendeliome v0.14080 FLI1 Bryony Thompson Publications for gene: FLI1 were set to
Mendeliome v0.14079 FLI1 Bryony Thompson Mode of inheritance for gene: FLI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14078 FLI1 Bryony Thompson reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10891501, 10981960, 24100448, 28255014, 26316623; Phenotypes: Bleeding disorder, platelet-type, 21 MONDO:0054577; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14078 FKTN Bryony Thompson Tag deep intronic tag was added to gene: FKTN.
Mendeliome v0.14078 FLG Bryony Thompson Marked gene: FLG as ready
Mendeliome v0.14078 FLG Bryony Thompson Gene: flg has been classified as Green List (High Evidence).
Mendeliome v0.14078 ASS1 Elena Savva Marked gene: ASS1 as ready
Mendeliome v0.14078 ASS1 Elena Savva Gene: ass1 has been classified as Green List (High Evidence).
Mendeliome v0.14078 FLG Bryony Thompson Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris MONDO:0024304
Mendeliome v0.14077 FLG Bryony Thompson Publications for gene: FLG were set to
Mendeliome v0.14076 FLG Bryony Thompson Mode of inheritance for gene: FLG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14075 ASS1 Elena Savva Phenotypes for gene: ASS1 were changed from to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Mendeliome v0.14074 ASTN1 Elena Savva Marked gene: ASTN1 as ready
Mendeliome v0.14074 ASTN1 Elena Savva Gene: astn1 has been classified as Green List (High Evidence).
Mendeliome v0.14074 ASS1 Elena Savva Publications for gene: ASS1 were set to
Mendeliome v0.14074 ASS1 Elena Savva Mode of inheritance for gene: ASS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14073 ASTN1 Elena Savva Phenotypes for gene: ASTN1 were changed from to Polymicrogyria; hypoplastic corpus callosum
Mendeliome v0.14072 FLG Bryony Thompson reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16444271, 19349982, 34608691; Phenotypes: Ichthyosis vulgaris MONDO:0024304; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14072 ASTN1 Elena Savva Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Mendeliome v0.14072 ASTN1 Elena Savva Publications for gene: ASTN1 were set to
Mendeliome v0.14072 ASTN1 Elena Savva Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14071 ASB10 Elena Savva Phenotypes for gene: ASB10 were changed from Glaucoma 1, open angle, F MIM#603383 to Glaucoma 1, open angle, F MIM#603383
Mendeliome v0.14070 FKTN Bryony Thompson Marked gene: FKTN as ready
Mendeliome v0.14070 FKTN Bryony Thompson Gene: fktn has been classified as Green List (High Evidence).
Mendeliome v0.14070 FKTN Bryony Thompson Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Mendeliome v0.14069 FKTN Bryony Thompson Publications for gene: FKTN were set to
Mendeliome v0.14068 FKTN Bryony Thompson Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14067 FKTN Bryony Thompson reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 9690476, 19017726, 20301385, 28680109; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14067 GSN Zornitza Stark Marked gene: GSN as ready
Mendeliome v0.14067 GSN Zornitza Stark Gene: gsn has been classified as Green List (High Evidence).
Mendeliome v0.14067 GSN Zornitza Stark Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, MIM# 105120
Mendeliome v0.14066 GSN Zornitza Stark Publications for gene: GSN were set to
Mendeliome v0.14065 GSN Zornitza Stark Mode of inheritance for gene: GSN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14064 GSN Zornitza Stark changed review comment from: The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported.

Multiple families with same founder variant.; to: The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported.

Multiple families with same founder variant, p.Asp187Asn, though other variants also reported.
Mendeliome v0.14064 GSN Zornitza Stark edited their review of gene: GSN: Changed publications: 2176164, 28139293
Mendeliome v0.14064 GSN Zornitza Stark reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 2176164; Phenotypes: Amyloidosis, Finnish type, MIM# 105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14064 GSS Zornitza Stark Marked gene: GSS as ready
Mendeliome v0.14064 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Mendeliome v0.14064 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle
Mendeliome v0.14063 GSS Zornitza Stark Publications for gene: GSS were set to
Mendeliome v0.14062 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14061 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215686; Phenotypes: Glutathione synthetase deficiency, MIM# 266130, Haemolytic anemia due to glutathione synthetase deficiency 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14061 GTF3C3 Zornitza Stark Marked gene: GTF3C3 as ready
Mendeliome v0.14061 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Mendeliome v0.14061 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Mendeliome v0.14060 GTF3C3 Zornitza Stark Publications for gene: GTF3C3 were set to
Mendeliome v0.14059 GTF3C3 Zornitza Stark Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14058 GTF3C3 Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14058 GUCA1A Zornitza Stark Marked gene: GUCA1A as ready
Mendeliome v0.14058 GUCA1A Zornitza Stark Gene: guca1a has been classified as Green List (High Evidence).
Mendeliome v0.14058 GUCA1A Zornitza Stark Phenotypes for gene: GUCA1A were changed from to Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093
Mendeliome v0.14057 GUCA1A Zornitza Stark Publications for gene: GUCA1A were set to
Mendeliome v0.14056 GUCA1A Zornitza Stark Mode of inheritance for gene: GUCA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14055 GUCA1A Zornitza Stark reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425234, 15953638, 11146732, 28125083; Phenotypes: Cone dystrophy-3, MIM# 602093, Cone-rod dystrophy 14, MIM# 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14055 ASB10 Elena Savva Publications for gene: ASB10 were set to PMID: 26713451; 22156576
Mendeliome v0.14055 ASB10 Elena Savva Mode of inheritance for gene: ASB10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14054 ASB10 Elena Savva Publications for gene: ASB10 were set to
Mendeliome v0.14054 ASB10 Elena Savva Mode of inheritance for gene: ASB10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14055 ASB10 Elena Savva Phenotypes for gene: ASB10 were changed from to Glaucoma 1, open angle, F MIM#603383
Mendeliome v0.14054 ASB10 Elena Savva Marked gene: ASB10 as ready
Mendeliome v0.14054 ASB10 Elena Savva Gene: asb10 has been classified as Red List (Low Evidence).
Mendeliome v0.14054 ASB10 Elena Savva Classified gene: ASB10 as Red List (low evidence)
Mendeliome v0.14054 ASB10 Elena Savva Gene: asb10 has been classified as Red List (Low Evidence).
Mendeliome v0.14053 ASB10 Elena Savva reviewed gene: ASB10: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26713451, 22156576; Phenotypes: Glaucoma 1, open angle, F MIM#603383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14053 FKRP Bryony Thompson Marked gene: FKRP as ready
Mendeliome v0.14053 FKRP Bryony Thompson Gene: fkrp has been classified as Green List (High Evidence).
Mendeliome v0.14053 FKRP Bryony Thompson Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Mendeliome v0.14052 FKRP Bryony Thompson Publications for gene: FKRP were set to
Mendeliome v0.14051 FKRP Bryony Thompson Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14050 ART4 Elena Savva Phenotypes for gene: ART4 were changed from {Macular degeneration, age-related, 8} MIM#613778 to {Macular degeneration, age-related, 8} MIM#613778
Mendeliome v0.14050 ART4 Elena Savva Mode of inheritance for gene: ART4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14049 FKRP Bryony Thompson reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11592034, 11741828, 14647208, 19299310, 19155270; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14049 ART4 Elena Savva Phenotypes for gene: ART4 were changed from to {Macular degeneration, age-related, 8} MIM#613778
Mendeliome v0.14048 ART4 Elena Savva Mode of inheritance for gene: ART4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14048 ART4 Elena Savva Marked gene: ART4 as ready
Mendeliome v0.14048 ART4 Elena Savva Gene: art4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14048 ART4 Elena Savva Publications for gene: ART4 were set to
Mendeliome v0.14048 ART4 Elena Savva Classified gene: ART4 as Amber List (moderate evidence)
Mendeliome v0.14048 ART4 Elena Savva Gene: art4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14047 ART4 Elena Savva reviewed gene: ART4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33675039, 33206405; Phenotypes: {Macular degeneration, age-related, 8} MIM#613778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14047 FHL1 Bryony Thompson Marked gene: FHL1 as ready
Mendeliome v0.14047 FHL1 Bryony Thompson Gene: fhl1 has been classified as Green List (High Evidence).
Mendeliome v0.14047 FHL1 Bryony Thompson Phenotypes for gene: FHL1 were changed from to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Mendeliome v0.14046 ASPA Elena Savva Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900; disorder of amino acid metabolism
Mendeliome v0.14045 ASPA Elena Savva Marked gene: ASPA as ready
Mendeliome v0.14045 ASPA Elena Savva Gene: aspa has been classified as Green List (High Evidence).
Mendeliome v0.14045 ASPA Elena Savva Publications for gene: ASPA were set to
Mendeliome v0.14045 ASPA Elena Savva Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14044 ASPA Elena Savva reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14044 ARMS2 Elena Savva Phenotypes for gene: ARMS2 were changed from {Macular degeneration, age-related, 8} MIM#613778 to {Macular degeneration, age-related, 8} MIM#613778
Mendeliome v0.14043 FHL1 Bryony Thompson Publications for gene: FHL1 were set to
Mendeliome v0.14042 FHL1 Bryony Thompson Mode of inheritance for gene: FHL1 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)
Mendeliome v0.14041 ASH1L Elena Savva Phenotypes for gene: ASH1L were changed from Mental retardation, autosomal dominant 52, MIM#617796 to Mental retardation, autosomal dominant 52, MIM#617796
Mendeliome v0.14041 ASH1L Elena Savva Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329
Mendeliome v0.14040 ARMS2 Elena Savva Phenotypes for gene: ARMS2 were changed from to {Macular degeneration, age-related, 8} MIM#613778
Mendeliome v0.14040 ARMS2 Elena Savva Classified gene: ARMS2 as Red List (low evidence)
Mendeliome v0.14040 ARMS2 Elena Savva Gene: arms2 has been classified as Red List (Low Evidence).
Mendeliome v0.14039 ARMS2 Elena Savva Marked gene: ARMS2 as ready
Mendeliome v0.14039 ARMS2 Elena Savva Gene: arms2 has been classified as Green List (High Evidence).
Mendeliome v0.14039 FHL1 Bryony Thompson reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; 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 v0.14039 ASH1L Elena Savva Phenotypes for gene: ASH1L were changed from to Mental retardation, autosomal dominant 52, MIM#617796
Mendeliome v0.14038 ASH1L Elena Savva Publications for gene: ASH1L were set to
Mendeliome v0.14038 ASH1L Elena Savva Marked gene: ASH1L as ready
Mendeliome v0.14038 ASH1L Elena Savva Gene: ash1l has been classified as Green List (High Evidence).
Mendeliome v0.14038 ASH1L Elena Savva Mode of inheritance for gene: ASH1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14037 ARMS2 Elena Savva reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Macular degeneration, age-related, 8} MIM#613778; Mode of inheritance: Unknown
Mendeliome v0.14037 ARL2BP Elena Savva Publications for gene: ARL2BP were set to PMID: 23849777; 27790702; 29718757
Mendeliome v0.14036 ARL2BP Elena Savva Publications for gene: ARL2BP were set to
Mendeliome v0.14035 ARL2BP Elena Savva Marked gene: ARL2BP as ready
Mendeliome v0.14035 ARL2BP Elena Savva Gene: arl2bp has been classified as Green List (High Evidence).
Mendeliome v0.14035 ARL2BP Elena Savva Phenotypes for gene: ARL2BP were changed from to Retinitis pigmentosa with or without situs inversus MIM#615434
Mendeliome v0.14035 ARL2BP Elena Savva Mode of inheritance for gene: ARL2BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14034 ARL2BP Elena Savva reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14034 FH Bryony Thompson Marked gene: FH as ready
Mendeliome v0.14034 FH Bryony Thompson Gene: fh has been classified as Green List (High Evidence).
Mendeliome v0.14034 FH Bryony Thompson Phenotypes for gene: FH were changed from to hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730
Mendeliome v0.14033 FH Bryony Thompson Publications for gene: FH were set to
Mendeliome v0.14032 FH Bryony Thompson Mode of inheritance for gene: FH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14031 FH Bryony Thompson changed review comment from: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.; to: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276, 20301430). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132, 20301679). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.
Mendeliome v0.14031 FH Bryony Thompson edited their review of gene: FH: Changed publications: 11865300, 28300276, 20301430, 8200987, 20549362, 31746132, 20301679
Mendeliome v0.14031 FH Bryony Thompson reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11865300, 28300276, 8200987, 20549362, 31746132; Phenotypes: hereditary leiomyomatosis and renal cell cancer MONDO:0007888, fumaric aciduria MONDO:0011730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14031 ARID1B Elena Savva Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1 MIM#135900
Mendeliome v0.14030 ARID1B Elena Savva Marked gene: ARID1B as ready
Mendeliome v0.14030 ARID1B Elena Savva Gene: arid1b has been classified as Green List (High Evidence).
Mendeliome v0.14030 ARID1B Elena Savva Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14029 ARID1B Elena Savva reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14029 FGG Bryony Thompson Marked gene: FGG as ready
Mendeliome v0.14029 FGG Bryony Thompson Gene: fgg has been classified as Green List (High Evidence).
Mendeliome v0.14029 FGG Bryony Thompson Phenotypes for gene: FGG were changed from to congenital fibrinogen deficiency MONDO:0018060
Mendeliome v0.14028 FGG Bryony Thompson Publications for gene: FGG were set to
Mendeliome v0.14027 ARHGDIA Elena Savva Phenotypes for gene: ARHGDIA were changed from Nephrotic syndrome, type 8 MIM#615244 to Nephrotic syndrome, type 8 MIM#615244
Mendeliome v0.14026 ARHGDIA Elena Savva Publications for gene: ARHGDIA were set to PMID: 23867502; 35060086
Mendeliome v0.14026 ARHGDIA Elena Savva Mode of inheritance for gene: ARHGDIA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14025 ARHGEF18 Elena Savva Marked gene: ARHGEF18 as ready
Mendeliome v0.14025 ARHGEF18 Elena Savva Gene: arhgef18 has been classified as Green List (High Evidence).
Mendeliome v0.14025 FGG Bryony Thompson Mode of inheritance for gene: FGG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14024 FGG Bryony Thompson reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 2713997, 11001902, 11001903, 9746756, 23560673, 28992465, 10980108, 15304068; Phenotypes: congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14024 FGFR3 Bryony Thompson Phenotypes for gene: FGFR3 were changed from achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833 to achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504
Mendeliome v0.14023 FGFR3 Bryony Thompson Publications for gene: FGFR3 were set to 26740388; 20301331; 20301540; 20301650; 20301628; 24864036; 17033969
Mendeliome v0.14022 FGFR3 Bryony Thompson Mode of pathogenicity for gene: FGFR3 was changed from to Other
Mendeliome v0.14021 FGFR3 Bryony Thompson Mode of inheritance for gene: FGFR3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14020 FGFR3 Bryony Thompson changed review comment from: FGFR3 has many well-established gene-disease associations with various skeletal dysplasia phenotypes. Gain-of-function is the main mechanism of disease for these disorders, except camptodactyly-tall stature-scoliosis-hearing loss syndrome where bialellic loss-of-function is the expected mechanism of disease. Specific monoallelic variants cause different phenotypes: >99% achondroplasia is caused by variants leading to the missense change p.Gly380Arg; Cysteine substitutions and stop-loss protein elongation variants are highly specific for Thanatophoric dysplasia (TD) type 1; p.Lys650Glu is associated with TD type 2; p.Ala391Glu causes Crouzon syndrome with acanthosis nigricans; and p.Pro250Arg causes Muenke syndrome.; to: FGFR3 has many well-established gene-disease associations with various skeletal dysplasia phenotypes. Gain-of-function is the main mechanism of disease for these disorders, except camptodactyly-tall stature-scoliosis-hearing loss syndrome (CATSHL syndrome, see separate curation below). Specific monoallelic variants cause different phenotypes: >99% achondroplasia is caused by variants leading to the missense change p.Gly380Arg; Cysteine substitutions and stop-loss protein elongation variants are highly specific for Thanatophoric dysplasia (TD) type 1; p.Lys650Glu is associated with TD type 2; p.Ala391Glu causes Crouzon syndrome with acanthosis nigricans; and p.Pro250Arg causes Muenke syndrome.
Moderate evidence for CATSHL syndrome, AD & AR: PMID: 8630492, 17033969, 27139183, 24864036, 32641982 - 2 apparently unrelated families segregating the same missense, p.Arg621His. One consanguineous family with 2 affected brothers with homozygous p.Thr546Lys. Heterozygous individuals in the family were unaffected. No functional assays were conducted for either missense to demonstrate loss of function. Null mouse and zebrafish models are similar to the human CATSHL syndrome phenotype.
Mendeliome v0.14020 GUCA1B Zornitza Stark changed review comment from: Single founder variant identified in several Japanese individuals.; to: Single founder variant identified in several Japanese individuals.

No other P/LP variants in ClinVar.
Mendeliome v0.14020 GUCA1B Zornitza Stark Marked gene: GUCA1B as ready
Mendeliome v0.14020 GUCA1B Zornitza Stark Gene: guca1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14020 GUCA1B Zornitza Stark Phenotypes for gene: GUCA1B were changed from to Retinitis pigmentosa 48, MIM# 613827
Mendeliome v0.14019 GUCA1B Zornitza Stark Publications for gene: GUCA1B were set to
Mendeliome v0.14018 GUCA1B Zornitza Stark Mode of inheritance for gene: GUCA1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14017 GUCA1B Zornitza Stark Classified gene: GUCA1B as Amber List (moderate evidence)
Mendeliome v0.14017 GUCA1B Zornitza Stark Gene: guca1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14016 GUCA1B Zornitza Stark edited their review of gene: GUCA1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14016 FGFR3 Bryony Thompson edited their review of gene: FGFR3: Changed mode of pathogenicity: Other; Changed publications: 8630492, 32641982, 27139183, 24864036, 17033969, 20301331, 20301540, 20301650, 20301628; Changed phenotypes: achondroplasia MONDO:0007037, Thanatophoric dysplasia type 1 MONDO:0008546, Thanatophoric dysplasia type 2 MONDO:0008547, hypochondroplasia MONDO:0007793, Muenke syndrome MONDO:0011274, FGFR3-related chondrodysplasia MONDO:0019685, severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658, Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833, camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14016 GUCA1B Zornitza Stark Tag founder tag was added to gene: GUCA1B.
Mendeliome v0.14016 GUCA1B Zornitza Stark reviewed gene: GUCA1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 15452722, 26161267; Phenotypes: Retinitis pigmentosa 48, MIM# 613827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14016 GUCY1A3 Zornitza Stark Marked gene: GUCY1A3 as ready
Mendeliome v0.14016 GUCY1A3 Zornitza Stark Gene: gucy1a3 has been classified as Green List (High Evidence).
Mendeliome v0.14016 GUCY1A3 Zornitza Stark Phenotypes for gene: GUCY1A3 were changed from to Moyamoya 6 with achalasia, MIM# 615750
Mendeliome v0.14015 GUCY1A3 Zornitza Stark Publications for gene: GUCY1A3 were set to
Mendeliome v0.14014 GUCY1A3 Zornitza Stark Mode of inheritance for gene: GUCY1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14013 GUCY1A3 Zornitza Stark reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581742, 26777256, 34381413, 33109895; Phenotypes: Moyamoya 6 with achalasia, MIM# 615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14013 GYG1 Zornitza Stark Marked gene: GYG1 as ready
Mendeliome v0.14013 GYG1 Zornitza Stark Gene: gyg1 has been classified as Green List (High Evidence).
Mendeliome v0.14013 GYG1 Zornitza Stark Phenotypes for gene: GYG1 were changed from to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507
Mendeliome v0.14012 GYG1 Zornitza Stark Publications for gene: GYG1 were set to
Mendeliome v0.14011 GYG1 Zornitza Stark Mode of inheritance for gene: GYG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14010 GYG1 Zornitza Stark reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32905144, 31791869, 29422440, 25272951, 20357282; Phenotypes: Polyglucosan body myopathy 2, MIM# 616199, Glycogen storage disease XV , MIM# 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14010 GUCY2D Zornitza Stark Marked gene: GUCY2D as ready
Mendeliome v0.14010 GUCY2D Zornitza Stark Gene: gucy2d has been classified as Green List (High Evidence).
Mendeliome v0.14010 GUCY2D Zornitza Stark Phenotypes for gene: GUCY2D were changed from to Cone-rod dystrophy 6, MIM# 601777; Leber congenital amaurosis 1, MIM# 204000; Night blindness, congenital stationary, type 1I, MIM# 618555
Mendeliome v0.14009 GUCY2D Zornitza Stark Publications for gene: GUCY2D were set to
Mendeliome v0.14008 GUCY2D Zornitza Stark Mode of inheritance for gene: GUCY2D was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14007 GUCY2D Zornitza Stark reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314386, 35205358; Phenotypes: Cone-rod dystrophy 6, MIM# 601777, Leber congenital amaurosis 1, MIM# 204000, Night blindness, congenital stationary, type 1I, MIM# 618555; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14007 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Mendeliome v0.14007 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Green List (High Evidence).
Mendeliome v0.14007 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)
Mendeliome v0.14006 ARHGEF18 Elena Savva Phenotypes for gene: ARHGEF18 were changed from to Retinitis pigmentosa 78 MIM#617433
Mendeliome v0.14005 ARHGEF18 Elena Savva Publications for gene: ARHGEF18 were set to
Mendeliome v0.14005 ARHGEF18 Elena Savva Mode of inheritance for gene: ARHGEF18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14004 ARHGEF18 Elena Savva reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28132693; Phenotypes: Retinitis pigmentosa 78 MIM#617433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14004 ARHGDIA Elena Savva Publications for gene: ARHGDIA were set to
Mendeliome v0.14004 ARHGDIA Elena Savva Phenotypes for gene: ARHGDIA were changed from to Nephrotic syndrome, type 8 MIM#615244
Mendeliome v0.14004 ARHGDIA Elena Savva Mode of inheritance for gene: ARHGDIA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14003 ARHGDIA Elena Savva Marked gene: ARHGDIA as ready
Mendeliome v0.14003 ARHGDIA Elena Savva Gene: arhgdia has been classified as Green List (High Evidence).
Mendeliome v0.14003 ARHGDIA Elena Savva reviewed gene: ARHGDIA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23867502, 35060086; Phenotypes: Nephrotic syndrome, type 8 MIM#615244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14003 ARHGAP31 Elena Savva Marked gene: ARHGAP31 as ready
Mendeliome v0.14003 ARHGAP31 Elena Savva Gene: arhgap31 has been classified as Green List (High Evidence).
Mendeliome v0.14003 ARHGAP31 Elena Savva Phenotypes for gene: ARHGAP31 were changed from to Adams-Oliver syndrome 1, MIM#100300
Mendeliome v0.14002 ARHGAP31 Elena Savva Publications for gene: ARHGAP31 were set to
Mendeliome v0.14001 ARHGAP31 Elena Savva Mode of inheritance for gene: ARHGAP31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14000 ARHGAP31 Elena Savva reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33655927, 29924900; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14000 ANXA5 Elena Savva Marked gene: ANXA5 as ready
Mendeliome v0.14000 ANXA5 Elena Savva Gene: anxa5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14000 ANXA5 Elena Savva Phenotypes for gene: ANXA5 were changed from to {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391
Mendeliome v0.13999 ANXA5 Elena Savva Publications for gene: ANXA5 were set to
Mendeliome v0.13999 ANXA5 Elena Savva Mode of inheritance for gene: ANXA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13998 ANXA5 Elena Savva Classified gene: ANXA5 as Amber List (moderate evidence)
Mendeliome v0.13998 ANXA5 Elena Savva Gene: anxa5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13997 AR Elena Savva Marked gene: AR as ready
Mendeliome v0.13997 AR Elena Savva Gene: ar has been classified as Green List (High Evidence).
Mendeliome v0.13997 GYPA Zornitza Stark Marked gene: GYPA as ready
Mendeliome v0.13997 GYPA Zornitza Stark Gene: gypa has been classified as Red List (Low Evidence).
Mendeliome v0.13997 GYPA Zornitza Stark Phenotypes for gene: GYPA were changed from to [Blood group, MNSs system] 111300
Mendeliome v0.13996 GYPA Zornitza Stark Mode of inheritance for gene: GYPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13995 GYPA Zornitza Stark Classified gene: GYPA as Red List (low evidence)
Mendeliome v0.13995 GYPA Zornitza Stark Gene: gypa has been classified as Red List (Low Evidence).
Mendeliome v0.13994 GYPA Zornitza Stark reviewed gene: GYPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, MNSs system] 111300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13994 GYPB Zornitza Stark Marked gene: GYPB as ready
Mendeliome v0.13994 GYPB Zornitza Stark Gene: gypb has been classified as Red List (Low Evidence).
Mendeliome v0.13994 GYPB Zornitza Stark Phenotypes for gene: GYPB were changed from to [Blood group, Ss] 111740
Mendeliome v0.13993 GYPB Zornitza Stark Mode of inheritance for gene: GYPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13992 GYPB Zornitza Stark Classified gene: GYPB as Red List (low evidence)
Mendeliome v0.13992 GYPB Zornitza Stark Gene: gypb has been classified as Red List (Low Evidence).
Mendeliome v0.13991 GYPB Zornitza Stark reviewed gene: GYPB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Ss] 111740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13991 HAAO Zornitza Stark reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DSE Krithika Murali reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 23704329, 25703627, 32130795; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DSG4 Krithika Murali reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12705872, 16439973, 16543896, 16575393, 17392831; Phenotypes: Hypotrichosis 6 - MIM#607903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DSPP Krithika Murali reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 39, with dentinogenesis - MIM#605594, Dentin dysplasia, type II - MIM#125420, Dentinogenesis imperfecta, Shields type II - MIM#125490, Dentinogenesis imperfecta, Shields type III - MIM#125500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13991 DUOX2 Krithika Murali reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6 - MIM#607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DUOXA2 Krithika Murali reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5 - MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 RP2 Belinda Chong reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697692, 10053026, 10942419, 11462235, 12417528, 8225316, 26143542; Phenotypes: Retinitis pigmentosa 2 MIM#312600; 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 v0.13991 RP9 Belinda Chong reviewed gene: RP9: Rating: RED; Mode of pathogenicity: None; Publications: 16799052, 16671097; Phenotypes: ?Retinitis pigmentosa 9 MIM#180104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13991 LZTS1 Alison Yeung Marked gene: LZTS1 as ready
Mendeliome v0.13991 LZTS1 Alison Yeung Gene: lzts1 has been classified as Red List (Low Evidence).
Mendeliome v0.13991 LZTS1 Alison Yeung Phenotypes for gene: LZTS1 were changed from to Esophageal squamous cell carcinoma, somatic, MIM# 133239
Mendeliome v0.13990 LZTS1 Alison Yeung Classified gene: LZTS1 as Red List (low evidence)
Mendeliome v0.13990 LZTS1 Alison Yeung Gene: lzts1 has been classified as Red List (Low Evidence).
Mendeliome v0.13989 LZTS1 Alison Yeung reviewed gene: LZTS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Esophageal squamous cell carcinoma, somatic, MIM# 133239; Mode of inheritance: Unknown
Mendeliome v0.13989 LYZ Alison Yeung Marked gene: LYZ as ready
Mendeliome v0.13989 LYZ Alison Yeung Gene: lyz has been classified as Green List (High Evidence).
Mendeliome v0.13989 LYZ Alison Yeung Phenotypes for gene: LYZ were changed from to Amyloidosis, renal, MIM# 105200
Mendeliome v0.13988 LYZ Alison Yeung Publications for gene: LYZ were set to
Mendeliome v0.13987 LYZ Alison Yeung Mode of inheritance for gene: LYZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13986 LYST Alison Yeung Marked gene: LYST as ready
Mendeliome v0.13986 LYST Alison Yeung Gene: lyst has been classified as Green List (High Evidence).
Mendeliome v0.13986 LYST Alison Yeung Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500
Mendeliome v0.13985 LYST Alison Yeung Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13984 LYRM7 Alison Yeung Marked gene: LYRM7 as ready
Mendeliome v0.13984 LYRM7 Alison Yeung Gene: lyrm7 has been classified as Green List (High Evidence).
Mendeliome v0.13984 LYRM7 Alison Yeung Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
Mendeliome v0.13983 LYRM7 Alison Yeung Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13982 LYN Alison Yeung Marked gene: LYN as ready
Mendeliome v0.13982 LYN Alison Yeung Added comment: Comment when marking as ready: No human disease association published. Mouse models suggest role in auto inflammatory pathways.
Mendeliome v0.13982 LYN Alison Yeung Gene: lyn has been classified as Red List (Low Evidence).
Mendeliome v0.13982 LYN Alison Yeung Classified gene: LYN as Red List (low evidence)
Mendeliome v0.13982 LYN Alison Yeung Gene: lyn has been classified as Red List (Low Evidence).
Mendeliome v0.13981 LTC4S Alison Yeung Marked gene: LTC4S as ready
Mendeliome v0.13981 LTC4S Alison Yeung Gene: ltc4s has been classified as Red List (Low Evidence).
Mendeliome v0.13981 LTC4S Alison Yeung Phenotypes for gene: LTC4S were changed from to Leukotriene C4 synthase deficiency, MIM# 614037
Mendeliome v0.13980 LTC4S Alison Yeung Mode of inheritance for gene: LTC4S was changed from Unknown to Unknown
Mendeliome v0.13979 LTC4S Alison Yeung Classified gene: LTC4S as Red List (low evidence)
Mendeliome v0.13979 LTC4S Alison Yeung Gene: ltc4s has been classified as Red List (Low Evidence).
Mendeliome v0.13978 LTC4S Alison Yeung reviewed gene: LTC4S: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukotriene C4 synthase deficiency, MIM# 614037; Mode of inheritance: Other
Mendeliome v0.13978 LTA Alison Yeung Marked gene: LTA as ready
Mendeliome v0.13978 LTA Alison Yeung Added comment: Comment when marking as ready: Not associated with Mendelian disease
Mendeliome v0.13978 LTA Alison Yeung Gene: lta has been classified as Red List (Low Evidence).
Mendeliome v0.13978 LTA Alison Yeung Phenotypes for gene: LTA were changed from to Myocardial infarction, susceptibility to, MIM# 608446
Mendeliome v0.13977 LTA Alison Yeung Mode of inheritance for gene: LTA was changed from Other to Other
Mendeliome v0.13977 LTA Alison Yeung Mode of inheritance for gene: LTA was changed from Unknown to Other
Mendeliome v0.13976 LTA Alison Yeung Classified gene: LTA as Red List (low evidence)
Mendeliome v0.13976 LTA Alison Yeung Gene: lta has been classified as Red List (Low Evidence).
Mendeliome v0.13975 LTA Alison Yeung reviewed gene: LTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myocardial infarction, susceptibility to, MIM# 608446; Mode of inheritance: Other
Mendeliome v0.13975 LRP6 Alison Yeung Marked gene: LRP6 as ready
Mendeliome v0.13975 LRP6 Alison Yeung Gene: lrp6 has been classified as Green List (High Evidence).
Mendeliome v0.13975 LRP6 Alison Yeung Phenotypes for gene: LRP6 were changed from to Tooth agenesis, selective, 7, MIM# 616724
Mendeliome v0.13974 LRP6 Alison Yeung Mode of inheritance for gene: LRP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13973 LRP5 Alison Yeung Marked gene: LRP5 as ready
Mendeliome v0.13973 LRP5 Alison Yeung Gene: lrp5 has been classified as Green List (High Evidence).
Mendeliome v0.13973 LRP5 Alison Yeung Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Mendeliome v0.13972 LRP5 Alison Yeung Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13971 LRP2 Alison Yeung Marked gene: LRP2 as ready
Mendeliome v0.13971 LRP2 Alison Yeung Gene: lrp2 has been classified as Green List (High Evidence).
Mendeliome v0.13971 LRP2 Alison Yeung Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM# 222448
Mendeliome v0.13970 LRIG2 Alison Yeung Marked gene: LRIG2 as ready
Mendeliome v0.13970 LRIG2 Alison Yeung Gene: lrig2 has been classified as Green List (High Evidence).
Mendeliome v0.13970 LRIG2 Alison Yeung Phenotypes for gene: LRIG2 were changed from to Urofacial syndrome 2, MIM# 615112
Mendeliome v0.13969 LRIG2 Alison Yeung Publications for gene: LRIG2 were set to 23313374; 27855655; 30885509
Mendeliome v0.13969 LRIG2 Alison Yeung Publications for gene: LRIG2 were set to
Mendeliome v0.13968 LRIG2 Alison Yeung Mode of inheritance for gene: LRIG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13967 LRIG2 Alison Yeung reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313374, 27855655, 30885509; Phenotypes: Urofacial syndrome 2, MIM# 615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13967 FGFR3 Bryony Thompson Marked gene: FGFR3 as ready
Mendeliome v0.13967 FGFR3 Bryony Thompson Gene: fgfr3 has been classified as Green List (High Evidence).
Mendeliome v0.13967 FGFR3 Bryony Thompson Phenotypes for gene: FGFR3 were changed from to achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833
Mendeliome v0.13966 FGFR3 Bryony Thompson Publications for gene: FGFR3 were set to
Mendeliome v0.13965 FGFR3 Bryony Thompson Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13964 FGFR3 Bryony Thompson reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740388, 20301331, 20301540, 20301650, 20301628, 24864036, 17033969; Phenotypes: achondroplasia MONDO:0007037, Thanatophoric dysplasia type 1 MONDO:0008546, Thanatophoric dysplasia type 2 MONDO:0008547, hypochondroplasia MONDO:0007793, Muenke syndrome MONDO:0011274, FGFR3-related chondrodysplasia MONDO:0019685, severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658, camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504, Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13964 DNAJB6 Ain Roesley Marked gene: DNAJB6 as ready
Mendeliome v0.13964 DNAJB6 Ain Roesley Gene: dnajb6 has been classified as Green List (High Evidence).
Mendeliome v0.13964 DNAJB6 Ain Roesley Phenotypes for gene: DNAJB6 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511
Mendeliome v0.13963 DNAJB6 Ain Roesley Publications for gene: DNAJB6 were set to
Mendeliome v0.13963 DNAJB6 Ain Roesley Mode of inheritance for gene: DNAJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13962 DNAJB6 Ain Roesley reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26847086, 26338452, 24170373; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13962 DNAH1 Ain Roesley Phenotypes for gene: DNAH1 were changed from Spermatogenic failure 18 MIM#617576 to primary ciliary dyskinesia,37 MIM#617577; Spermatogenic failure 18 MIM#617576
Mendeliome v0.13961 DNAH1 Ain Roesley Marked gene: DNAH1 as ready
Mendeliome v0.13961 DNAH1 Ain Roesley Gene: dnah1 has been classified as Green List (High Evidence).
Mendeliome v0.13961 DNAH1 Ain Roesley Phenotypes for gene: DNAH1 were changed from to Spermatogenic failure 18 MIM#617576
Mendeliome v0.13960 DNAH1 Ain Roesley Publications for gene: DNAH1 were set to
Mendeliome v0.13959 DNAH1 Ain Roesley Mode of inheritance for gene: DNAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13958 DNAH1 Ain Roesley reviewed gene: DNAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31507630, 31765523, 25927852, 24360805, 33577779; Phenotypes: primary ciliary dyskinesia,37 MIM#617577, Spermatogenic failure 18 MIM#617576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13958 DNA2 Ain Roesley Marked gene: DNA2 as ready
Mendeliome v0.13958 DNA2 Ain Roesley Gene: dna2 has been classified as Green List (High Evidence).
Mendeliome v0.13958 DNA2 Ain Roesley Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Mendeliome v0.13957 DNA2 Ain Roesley Publications for gene: DNA2 were set to
Mendeliome v0.13957 DNA2 Ain Roesley Mode of inheritance for gene: DNA2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13956 DNA2 Ain Roesley reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292, 23352259, 25635128, 28554558; Phenotypes: Seckel syndrome 8, MIM#615807, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13956 DMD Ain Roesley Tag SV/CNV tag was added to gene: DMD.
Mendeliome v0.13956 DMP1 Ain Roesley Marked gene: DMP1 as ready
Mendeliome v0.13956 DMP1 Ain Roesley Gene: dmp1 has been classified as Green List (High Evidence).
Mendeliome v0.13956 DMP1 Ain Roesley Publications for gene: DMP1 were set to
Mendeliome v0.13956 DMP1 Ain Roesley Phenotypes for gene: DMP1 were changed from to Hypophosphatemic rickets MIM#241520
Mendeliome v0.13956 DMP1 Ain Roesley Mode of inheritance for gene: DMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13955 DMP1 Ain Roesley reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32920683, 17033625, 17033621; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13955 AQP3 Elena Savva Phenotypes for gene: AQP3 were changed from to [Blood group GIL] MIM#607457
Mendeliome v0.13954 AQP3 Elena Savva Marked gene: AQP3 as ready
Mendeliome v0.13954 AQP3 Elena Savva Gene: aqp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13954 DMD Ain Roesley Marked gene: DMD as ready
Mendeliome v0.13954 DMD Ain Roesley Gene: dmd has been classified as Green List (High Evidence).
Mendeliome v0.13954 DMD Ain Roesley Phenotypes for gene: DMD were changed from to Becker muscular dystrophy MIM@300376 XLR; Cardiomyopathy, dilated, 3B MIM#302045 XL; Duchenne muscular dystrophy MIM#310200
Mendeliome v0.13953 DMD Ain Roesley Publications for gene: DMD were set to
Mendeliome v0.13953 DMD Ain Roesley Mode of inheritance for gene: DMD 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)
Mendeliome v0.13952 DMD Ain Roesley reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM@300376 XLR, Cardiomyopathy, dilated, 3B MIM#302045 XL, 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); Current diagnostic: yes
Mendeliome v0.13952 DLX3 Ain Roesley Marked gene: DLX3 as ready
Mendeliome v0.13952 DLX3 Ain Roesley Gene: dlx3 has been classified as Green List (High Evidence).
Mendeliome v0.13952 DLX3 Ain Roesley Phenotypes for gene: DLX3 were changed from to Amelogenesis imperfecta, type IV, MIM# 104510; Trichodontoosseous syndrome, MIM# 190320
Mendeliome v0.13952 DLX3 Ain Roesley Publications for gene: DLX3 were set to
Mendeliome v0.13952 DLX3 Ain Roesley Mode of inheritance for gene: DLX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13951 DLX3 Ain Roesley reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467018, 15666299, 18203197; Phenotypes: Amelogenesis imperfecta, type IV, MIM# 104510, Trichodontoosseous syndrome, MIM# 190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13951 DLAT Ain Roesley Marked gene: DLAT as ready
Mendeliome v0.13951 DLAT Ain Roesley Gene: dlat has been classified as Green List (High Evidence).
Mendeliome v0.13951 DLAT Ain Roesley Publications for gene: DLAT were set to
Mendeliome v0.13950 DLAT Ain Roesley Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency MIM#245348
Mendeliome v0.13950 DLAT Ain Roesley Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13949 DLAT Ain Roesley reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Pyruvate dehydrogenase E2 deficiency MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13949 SLC22A12 Manny Jacobs reviewed gene: SLC22A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 14655203, 34412930, 34756726, 34829836, 26821810; Phenotypes: Hypouricemia, renal, MIM# 220150, MONDO:0020728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13949 DISC1 Ain Roesley Marked gene: DISC1 as ready
Mendeliome v0.13949 DISC1 Ain Roesley Gene: disc1 has been classified as Red List (Low Evidence).
Mendeliome v0.13949 DISC1 Ain Roesley Phenotypes for gene: DISC1 were changed from to {Schizophrenia 9, susceptibility to} MIM#604906
Mendeliome v0.13949 DISC1 Ain Roesley Publications for gene: DISC1 were set to
Mendeliome v0.13949 DISC1 Ain Roesley Classified gene: DISC1 as Red List (low evidence)
Mendeliome v0.13949 DISC1 Ain Roesley Gene: disc1 has been classified as Red List (Low Evidence).
Mendeliome v0.13948 DISC1 Ain Roesley reviewed gene: DISC1: Rating: RED; Mode of pathogenicity: None; Publications: 18945897; Phenotypes: {Schizophrenia 9, susceptibility to} MIM#604906; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13948 LPL Alison Yeung Marked gene: LPL as ready
Mendeliome v0.13948 LPL Alison Yeung Gene: lpl has been classified as Green List (High Evidence).
Mendeliome v0.13948 LPL Alison Yeung Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250; Lipoprotein lipase deficiency, MIM# 238600
Mendeliome v0.13947 LPL Alison Yeung Mode of inheritance for gene: LPL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13946 LPL Alison Yeung reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined hyperlipidemia, familial, MIM# 144250, Lipoprotein lipase deficiency, MIM# 238600; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13946 DHTKD1 Ain Roesley Marked gene: DHTKD1 as ready
Mendeliome v0.13946 DHTKD1 Ain Roesley Added comment: Comment when marking as ready: green for AR, amber for AD
Mendeliome v0.13946 DHTKD1 Ain Roesley Gene: dhtkd1 has been classified as Green List (High Evidence).
Mendeliome v0.13946 DHTKD1 Ain Roesley Publications for gene: DHTKD1 were set to
Mendeliome v0.13945 DHTKD1 Ain Roesley Phenotypes for gene: DHTKD1 were changed from to Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750, AR; Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025
Mendeliome v0.13944 DHTKD1 Ain Roesley Mode of inheritance for gene: DHTKD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13943 LPAR6 Alison Yeung Marked gene: LPAR6 as ready
Mendeliome v0.13943 LPAR6 Alison Yeung Gene: lpar6 has been classified as Green List (High Evidence).
Mendeliome v0.13943 LPAR6 Alison Yeung Phenotypes for gene: LPAR6 were changed from to Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239
Mendeliome v0.13942 LPAR6 Alison Yeung Mode of inheritance for gene: LPAR6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13941 LPAR6 Alison Yeung reviewed gene: LPAR6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13941 DHH Ain Roesley Marked gene: DHH as ready
Mendeliome v0.13941 DHH Ain Roesley Gene: dhh has been classified as Green List (High Evidence).
Mendeliome v0.13941 DHH Ain Roesley Phenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 to 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080; 46XY sex reversal 7 MIM#233420
Mendeliome v0.13940 LOXL1 Alison Yeung Marked gene: LOXL1 as ready
Mendeliome v0.13940 LOXL1 Alison Yeung Gene: loxl1 has been classified as Red List (Low Evidence).
Mendeliome v0.13940 LOXL1 Alison Yeung Mode of inheritance for gene: LOXL1 was changed from Unknown to Other
Mendeliome v0.13939 LOXL1 Alison Yeung Phenotypes for gene: LOXL1 were changed from to Exfoliation syndrome, susceptibility to, MIM#177650
Mendeliome v0.13938 LOXL1 Alison Yeung Classified gene: LOXL1 as Red List (low evidence)
Mendeliome v0.13938 LOXL1 Alison Yeung Gene: loxl1 has been classified as Red List (Low Evidence).
Mendeliome v0.13937 LOXL1 Alison Yeung reviewed gene: LOXL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exfoliation syndrome, susceptibility to, MIM#177650; Mode of inheritance: Other
Mendeliome v0.13937 LMF1 Alison Yeung Marked gene: LMF1 as ready
Mendeliome v0.13937 LMF1 Alison Yeung Gene: lmf1 has been classified as Green List (High Evidence).
Mendeliome v0.13937 LMF1 Alison Yeung Phenotypes for gene: LMF1 were changed from to Lipase deficiency, combined, MIM# 246650
Mendeliome v0.13936 LMF1 Alison Yeung Mode of inheritance for gene: LMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13935 LMF1 Alison Yeung reviewed gene: LMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipase deficiency, combined, MIM# 246650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13935 LMBRD1 Alison Yeung Marked gene: LMBRD1 as ready
Mendeliome v0.13935 LMBRD1 Alison Yeung Gene: lmbrd1 has been classified as Green List (High Evidence).
Mendeliome v0.13935 LMBRD1 Alison Yeung Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380
Mendeliome v0.13934 LMBRD1 Alison Yeung Publications for gene: LMBRD1 were set to
Mendeliome v0.13933 LMBRD1 Alison Yeung Mode of inheritance for gene: LMBRD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13932 LMBR1 Alison Yeung Marked gene: LMBR1 as ready
Mendeliome v0.13932 LMBR1 Alison Yeung Gene: lmbr1 has been classified as Green List (High Evidence).
Mendeliome v0.13932 LMBR1 Alison Yeung Phenotypes for gene: LMBR1 were changed from to Laurin-Sandrow syndrome, MIM# 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I, MIM# 174500; Syndactyly, type IV, MIM# 186200; Acheiropody, MIM# 200500; Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500; Hypoplastic or aplastic tibia with polydactyly, MIM# 188740
Mendeliome v0.13931 LMBR1 Alison Yeung Mode of inheritance for gene: LMBR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13930 LMBR1 Alison Yeung reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Laurin-Sandrow syndrome, MIM# 135750, Polydactyly, preaxial type II 174500, Triphalangeal thumb, type I, MIM# 174500, Syndactyly, type IV, MIM# 186200, Acheiropody, MIM# 200500, Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500, Hypoplastic or aplastic tibia with polydactyly, MIM# 188740; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13930 SLC17A3 Samantha Ayres reviewed gene: SLC17A3: Rating: RED; Mode of pathogenicity: None; Publications: 34290818, 20810651; Phenotypes: [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13930 SLC22A5 Manny Jacobs reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 10072434, 10051646, 10425211, 10480371, 10679939, 9837751, 23379544, 31399326; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13930 CYP27B1 Ain Roesley Marked gene: CYP27B1 as ready
Mendeliome v0.13930 CYP27B1 Ain Roesley Gene: cyp27b1 has been classified as Green List (High Evidence).
Mendeliome v0.13930 CYP27B1 Ain Roesley Phenotypes for gene: CYP27B1 were changed from to Vitamin D-dependent rickets, type I MIM#264700
Mendeliome v0.13929 CYP27B1 Ain Roesley Publications for gene: CYP27B1 were set to
Mendeliome v0.13929 CYP27B1 Ain Roesley Mode of inheritance for gene: CYP27B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13928 CYP27B1 Ain Roesley reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9486994, 9415400, 12050193, 27473561, 34492747, 33823104; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13928 CYP51A1 Ain Roesley Marked gene: CYP51A1 as ready
Mendeliome v0.13928 CYP51A1 Ain Roesley Gene: cyp51a1 has been classified as Green List (High Evidence).
Mendeliome v0.13928 CYP51A1 Ain Roesley Phenotypes for gene: CYP51A1 were changed from to congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO#0033853
Mendeliome v0.13927 CYP51A1 Ain Roesley Publications for gene: CYP51A1 were set to
Mendeliome v0.13926 CYP4V2 Ain Roesley Marked gene: CYP4V2 as ready
Mendeliome v0.13926 CYP4V2 Ain Roesley Gene: cyp4v2 has been classified as Green List (High Evidence).
Mendeliome v0.13926 CYP4V2 Ain Roesley Phenotypes for gene: CYP4V2 were changed from to Bietti crystalline corneoretinal dystrophy, MIM# 210370
Mendeliome v0.13925 CYP4V2 Ain Roesley Publications for gene: CYP4V2 were set to
Mendeliome v0.13925 CYP4V2 Ain Roesley Mode of inheritance for gene: CYP4V2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13924 CYP4V2 Ain Roesley reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042513, 22497028; Phenotypes: Bietti crystalline corneoretinal dystrophy, MIM# 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13924 CYP2R1 Ain Roesley Marked gene: CYP2R1 as ready
Mendeliome v0.13924 CYP2R1 Ain Roesley Gene: cyp2r1 has been classified as Green List (High Evidence).
Mendeliome v0.13924 CYP2R1 Ain Roesley Publications for gene: CYP2R1 were set to 15128933; 28548312
Mendeliome v0.13923 CYP2R1 Ain Roesley Phenotypes for gene: CYP2R1 were changed from to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Mendeliome v0.13923 CYP2R1 Ain Roesley Publications for gene: CYP2R1 were set to
Mendeliome v0.13923 CYP2R1 Ain Roesley Mode of inheritance for gene: CYP2R1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13922 CYP2R1 Ain Roesley reviewed gene: CYP2R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15128933, 28548312; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13922 CYP2D6 Ain Roesley Marked gene: CYP2D6 as ready
Mendeliome v0.13922 CYP2D6 Ain Roesley Gene: cyp2d6 has been classified as Red List (Low Evidence).
Mendeliome v0.13922 CYP2D6 Ain Roesley Phenotypes for gene: CYP2D6 were changed from to {Codeine sensitivity} MIM#608902; {Debrisoquine sensitivity} MIM#608902
Mendeliome v0.13921 CYP2D6 Ain Roesley Publications for gene: CYP2D6 were set to
Mendeliome v0.13921 CYP2D6 Ain Roesley Classified gene: CYP2D6 as Red List (low evidence)
Mendeliome v0.13921 CYP2D6 Ain Roesley Gene: cyp2d6 has been classified as Red List (Low Evidence).
Mendeliome v0.13920 CYP2D6 Ain Roesley reviewed gene: CYP2D6: Rating: RED; Mode of pathogenicity: None; Publications: 18406467, 24458010; Phenotypes: {Codeine sensitivity} MIM#608902, {Debrisoquine sensitivity} MIM#608902; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13920 CYP2C19 Ain Roesley Classified gene: CYP2C19 as Red List (low evidence)
Mendeliome v0.13920 CYP2C19 Ain Roesley Gene: cyp2c19 has been classified as Red List (Low Evidence).
Mendeliome v0.13919 CYP2C19 Ain Roesley edited their review of gene: CYP2C19: Changed rating: RED
Mendeliome v0.13919 CYP2C19 Ain Roesley changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)

(PMID:27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."; to: Pharmacogenomics gene

Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)

(PMID:27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."
Mendeliome v0.13919 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Mendeliome v0.13919 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Mendeliome v0.13919 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Mendeliome v0.13918 DGUOK Zornitza Stark Publications for gene: DGUOK were set to
Mendeliome v0.13917 DGUOK Zornitza Stark Mode of inheritance for gene: DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13916 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687800, 12874104, 15887277, 23043144, 26874653; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13916 DGKE Zornitza Stark Marked gene: DGKE as ready
Mendeliome v0.13916 DGKE Zornitza Stark Gene: dgke has been classified as Green List (High Evidence).
Mendeliome v0.13916 DGKE Zornitza Stark Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7, MIM# 615008
Mendeliome v0.13915 DGKE Zornitza Stark Publications for gene: DGKE were set to
Mendeliome v0.13914 DGKE Zornitza Stark Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13913 DGKE Zornitza Stark reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13913 DES Zornitza Stark Marked gene: DES as ready
Mendeliome v0.13913 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Mendeliome v0.13913 DES Zornitza Stark Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy
Mendeliome v0.13912 DES Zornitza Stark Publications for gene: DES were set to
Mendeliome v0.13911 DES Zornitza Stark reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 20718792, 19879535, 20423733, 24200904, 22395865, 29212896, 23168288, 20829228, 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, Myopathy, myofibrillar, 1 , MIM#601419, Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13911 DEPDC5 Zornitza Stark Marked gene: DEPDC5 as ready
Mendeliome v0.13911 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Mendeliome v0.13911 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1, MIM#604364
Mendeliome v0.13910 DEPDC5 Zornitza Stark Publications for gene: DEPDC5 were set to
Mendeliome v0.13909 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13908 DEPDC5 Zornitza Stark reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13908 DECR1 Zornitza Stark Marked gene: DECR1 as ready
Mendeliome v0.13908 DECR1 Zornitza Stark Gene: decr1 has been classified as Red List (Low Evidence).
Mendeliome v0.13908 DECR1 Zornitza Stark Classified gene: DECR1 as Red List (low evidence)
Mendeliome v0.13908 DECR1 Zornitza Stark Gene: decr1 has been classified as Red List (Low Evidence).
Mendeliome v0.13907 DECR1 Zornitza Stark reviewed gene: DECR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13907 DDIT3 Zornitza Stark Marked gene: DDIT3 as ready
Mendeliome v0.13907 DDIT3 Zornitza Stark Gene: ddit3 has been classified as Red List (Low Evidence).
Mendeliome v0.13907 DDIT3 Zornitza Stark Classified gene: DDIT3 as Red List (low evidence)
Mendeliome v0.13907 DDIT3 Zornitza Stark Gene: ddit3 has been classified as Red List (Low Evidence).
Mendeliome v0.13906 DDIT3 Zornitza Stark reviewed gene: DDIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13906 DDHD2 Zornitza Stark Marked gene: DDHD2 as ready
Mendeliome v0.13906 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Mendeliome v0.13906 DDHD2 Zornitza Stark Phenotypes for gene: DDHD2 were changed from to Spastic paraplegia 54, autosomal recessive, MIM# 615033
Mendeliome v0.13905 DDHD2 Zornitza Stark Publications for gene: DDHD2 were set to
Mendeliome v0.13904 DDHD2 Zornitza Stark Mode of inheritance for gene: DDHD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13903 DDHD2 Zornitza Stark reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13903 DDC Zornitza Stark Marked gene: DDC as ready
Mendeliome v0.13903 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Mendeliome v0.13903 DDC Zornitza Stark Phenotypes for gene: DDC were changed from to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Mendeliome v0.13902 DDC Zornitza Stark Publications for gene: DDC were set to
Mendeliome v0.13901 DDC Zornitza Stark Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13900 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13900 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Mendeliome v0.13900 DDB2 Zornitza Stark Gene: ddb2 has been classified as Green List (High Evidence).
Mendeliome v0.13900 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Mendeliome v0.13899 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Mendeliome v0.13898 AQP3 Elena Savva Publications for gene: AQP3 were set to
Mendeliome v0.13897 AQP3 Elena Savva Mode of inheritance for gene: AQP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13897 AQP3 Elena Savva Classified gene: AQP3 as Amber List (moderate evidence)
Mendeliome v0.13897 AQP3 Elena Savva Gene: aqp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13896 AQP3 Elena Savva reviewed gene: AQP3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10737773, 12239222; Phenotypes: [Blood group GIL] MIM#607457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13896 DDB2 Zornitza Stark Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13895 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33276309, 32530099, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13895 DCTN1 Zornitza Stark Marked gene: DCTN1 as ready
Mendeliome v0.13895 DCTN1 Zornitza Stark Gene: dctn1 has been classified as Green List (High Evidence).
Mendeliome v0.13895 DCTN1 Zornitza Stark Phenotypes for gene: DCTN1 were changed from to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879; Perry syndrome, MIM# 168605
Mendeliome v0.13894 DCTN1 Zornitza Stark Publications for gene: DCTN1 were set to
Mendeliome v0.13893 DCTN1 Zornitza Stark Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13892 DCTN1 Zornitza Stark edited their review of gene: DCTN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641, MONDO:0011879, Perry syndrome, MIM# 168605
Mendeliome v0.13892 AQP5 Elena Savva Publications for gene: AQP5 were set to PMID: 35014096; 23830519
Mendeliome v0.13892 AQP5 Elena Savva Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type MIM#600231 to Palmoplantar keratoderma, Bothnian type MIM#600231
Mendeliome v0.13891 AQP5 Elena Savva Publications for gene: AQP5 were set to
Mendeliome v0.13892 AQP5 Elena Savva Phenotypes for gene: AQP5 were changed from to Palmoplantar keratoderma, Bothnian type MIM#600231
Mendeliome v0.13891 AQP5 Elena Savva Marked gene: AQP5 as ready
Mendeliome v0.13891 AQP5 Elena Savva Gene: aqp5 has been classified as Green List (High Evidence).
Mendeliome v0.13891 AQP5 Elena Savva Mode of inheritance for gene: AQP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13890 AQP5 Elena Savva reviewed gene: AQP5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35014096, 23830519; Phenotypes: Palmoplantar keratoderma, Bothnian type MIM#600231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13890 AR Elena Savva Phenotypes for gene: AR were changed from to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300; Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Mendeliome v0.13890 AR Elena Savva Publications for gene: AR were set to
Mendeliome v0.13889 AR Elena Savva Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13888 AR Elena Savva reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22334387; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300, Spinal and bulbar muscular atrophy of Kennedy MIM#313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13888 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Mendeliome v0.13888 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Mendeliome v0.13888 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554
Mendeliome v0.13887 DCLRE1C Zornitza Stark Publications for gene: DCLRE1C were set to
Mendeliome v0.13886 DCLRE1C Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13885 DCLRE1C Zornitza Stark reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13885 ARCN1 Elena Savva Marked gene: ARCN1 as ready
Mendeliome v0.13885 ARCN1 Elena Savva Gene: arcn1 has been classified as Green List (High Evidence).
Mendeliome v0.13885 APPL1 Elena Savva Phenotypes for gene: APPL1 were changed from Maturity-onset diabetes of the young, type 14 MIM#616511 to Maturity-onset diabetes of the young, type 14 MIM#616511
Mendeliome v0.13885 APPL1 Elena Savva Phenotypes for gene: APPL1 were changed from Maturity-onset diabetes of the young, type 14 MIM#616511 to Maturity-onset diabetes of the young, type 14 MIM#616511
Mendeliome v0.13884 DCHS1 Zornitza Stark Marked gene: DCHS1 as ready
Mendeliome v0.13884 DCHS1 Zornitza Stark Gene: dchs1 has been classified as Green List (High Evidence).
Mendeliome v0.13884 DCHS1 Zornitza Stark Phenotypes for gene: DCHS1 were changed from to Van Maldergem syndrome 1, MIM# 601390
Mendeliome v0.13883 DCHS1 Zornitza Stark Publications for gene: DCHS1 were set to
Mendeliome v0.13882 DCHS1 Zornitza Stark Mode of inheritance for gene: DCHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13881 APPL1 Elena Savva Mode of inheritance for gene: APPL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13881 DCHS1 Zornitza Stark reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13881 APPL1 Elena Savva Classified gene: APPL1 as Amber List (moderate evidence)
Mendeliome v0.13881 APPL1 Elena Savva Gene: appl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13880 APPL1 Elena Savva Phenotypes for gene: APPL1 were changed from to Maturity-onset diabetes of the young, type 14 MIM#616511
Mendeliome v0.13880 APPL1 Elena Savva Publications for gene: APPL1 were set to
Mendeliome v0.13880 APPL1 Elena Savva Mode of inheritance for gene: APPL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13880 APPL1 Elena Savva Classified gene: APPL1 as Amber List (moderate evidence)
Mendeliome v0.13880 APPL1 Elena Savva Gene: appl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13879 APPL1 Elena Savva Marked gene: APPL1 as ready
Mendeliome v0.13879 APPL1 Elena Savva Gene: appl1 has been classified as Green List (High Evidence).
Mendeliome v0.13879 AQP1 Elena Savva Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension
Mendeliome v0.13879 AQP1 Elena Savva Publications for gene: AQP1 were set to PMID:22683574; 29650961
Mendeliome v0.13878 APRT Elena Savva Marked gene: APRT as ready
Mendeliome v0.13878 APRT Elena Savva Gene: aprt has been classified as Green List (High Evidence).
Mendeliome v0.13878 AQP1 Elena Savva Phenotypes for gene: AQP1 were changed from to Pulmonary arterial hypertension
Mendeliome v0.13877 AQP1 Elena Savva Publications for gene: AQP1 were set to
Mendeliome v0.13877 AQP1 Elena Savva Marked gene: AQP1 as ready
Mendeliome v0.13877 AQP1 Elena Savva Gene: aqp1 has been classified as Green List (High Evidence).
Mendeliome v0.13877 AQP1 Elena Savva Mode of inheritance for gene: AQP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13876 APRT Elena Savva Phenotypes for gene: APRT were changed from to Adenine phosphoribosyltransferase deficiency MIM#614723
Mendeliome v0.13875 AQP1 Elena Savva reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22683574, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13875 APRT Elena Savva Publications for gene: APRT were set to
Mendeliome v0.13874 APRT Elena Savva Mode of inheritance for gene: APRT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Marked gene: APOC4-APOC2 as ready
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Gene: apoc4-apoc2 has been classified as Red List (Low Evidence).
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Publications for gene: APOC4-APOC2 were set to
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Classified gene: APOC4-APOC2 as Red List (low evidence)
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Gene: apoc4-apoc2 has been classified as Red List (Low Evidence).
Mendeliome v0.13872 APRT Elena Savva reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 3680503, 2227934, 7915931, 1353080; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13872 APOC2 Elena Savva Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib MIM#207750 to Hyperlipoproteinemia, type Ib MIM#207750
Mendeliome v0.13871 APOC4-APOC2 Elena Savva reviewed gene: APOC4-APOC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31034468; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13871 APOC2 Elena Savva Phenotypes for gene: APOC2 were changed from to Hyperlipoproteinemia, type Ib MIM#207750
Mendeliome v0.13870 APOC2 Elena Savva Marked gene: APOC2 as ready
Mendeliome v0.13870 APOC2 Elena Savva Gene: apoc2 has been classified as Green List (High Evidence).
Mendeliome v0.13870 APOC3 Elena Savva Publications for gene: APOC3 were set to PMID: 19074352
Mendeliome v0.13869 APOC2 Elena Savva Publications for gene: APOC2 were set to
Mendeliome v0.13869 APOC2 Elena Savva Mode of inheritance for gene: APOC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13868 APOC2 Elena Savva reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32562799, 26044956, 32292609, 32280258; Phenotypes: Hyperlipoproteinemia, type Ib MIM#207750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13868 APOC3 Elena Savva Publications for gene: APOC3 were set to
Mendeliome v0.13868 APOC3 Elena Savva Marked gene: APOC3 as ready
Mendeliome v0.13868 APOC3 Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence).
Mendeliome v0.13868 APOC3 Elena Savva Phenotypes for gene: APOC3 were changed from to Apolipoprotein C-III deficiency MIM#614028
Mendeliome v0.13867 APOC3 Elena Savva Mode of inheritance for gene: APOC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13866 APOC3 Elena Savva Classified gene: APOC3 as Red List (low evidence)
Mendeliome v0.13866 APOC3 Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence).
Mendeliome v0.13865 APOC3 Elena Savva reviewed gene: APOC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19074352; Phenotypes: Apolipoprotein C-III deficiency MIM#614028; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13865 ANXA5 Elena Savva reviewed gene: ANXA5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17339269, 12665588, 34878150; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13865 ACTL6B Zornitza Stark Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13864 ACTL6B Zornitza Stark edited their review of gene: ACTL6B: Changed phenotypes: Epileptic encephalopathy, early infantile, 76, MIM# 618468, Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13864 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912
Mendeliome v0.13863 CCDC50 Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence)
Mendeliome v0.13863 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13862 CCDC50 Zornitza Stark reviewed gene: CCDC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 17503326, 27911912, 24875298; Phenotypes: Deafness, autosomal dominant 44 MIM#607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13862 MAPKAPK5 Zornitza Stark Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869
Mendeliome v0.13861 MAPKAPK5 Zornitza Stark edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869
Mendeliome v0.13861 KCNJ2 Ain Roesley Publications for gene: KCNJ2 were set to
Mendeliome v0.13861 KCNJ2 Ain Roesley Mode of pathogenicity for gene: KCNJ2 was changed from Other to None
Mendeliome v0.13860 KCNJ2 Ain Roesley edited their review of gene: KCNJ2: Changed publications: 24383070
Mendeliome v0.13860 KCNJ2 Ain Roesley changed review comment from: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative is the disease mechanism; to: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative and LoF is the disease mechanism for ATS and CPVT while GoF is the mechanism for short QT
Mendeliome v0.13860 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Mendeliome v0.13860 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Mendeliome v0.13860 DCAF17 Zornitza Stark Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, MIM# 241080
Mendeliome v0.13859 DCAF17 Zornitza Stark Publications for gene: DCAF17 were set to
Mendeliome v0.13858 DCAF17 Zornitza Stark Mode of inheritance for gene: DCAF17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13857 DCAF17 Zornitza Stark reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34877714, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome, MIM# 241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13857 CYP2C19 Ain Roesley Marked gene: CYP2C19 as ready
Mendeliome v0.13857 CYP2C19 Ain Roesley Gene: cyp2c19 has been classified as Green List (High Evidence).
Mendeliome v0.13857 CYP2C19 Ain Roesley Phenotypes for gene: CYP2C19 were changed from to Voriconazole
Mendeliome v0.13857 CYP2C19 Ain Roesley Publications for gene: CYP2C19 were set to
Mendeliome v0.13857 CYP2C19 Ain Roesley Mode of inheritance for gene: CYP2C19 was changed from Unknown to Other
Mendeliome v0.13856 CYP2C19 Ain Roesley reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386, 31549389; Phenotypes: Voriconazole; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.13856 CYP2B6 Ain Roesley Marked gene: CYP2B6 as ready
Mendeliome v0.13856 CYP2B6 Ain Roesley Gene: cyp2b6 has been classified as Red List (Low Evidence).
Mendeliome v0.13856 CYP2B6 Ain Roesley Phenotypes for gene: CYP2B6 were changed from to Efavirenz, poor metabolism of MIM#614546
Mendeliome v0.13855 CYP2B6 Ain Roesley Classified gene: CYP2B6 as Red List (low evidence)
Mendeliome v0.13855 CYP2B6 Ain Roesley Gene: cyp2b6 has been classified as Red List (Low Evidence).
Mendeliome v0.13854 CYP2B6 Ain Roesley changed review comment from: No other Mendelian disease association found via punned; to: No other Mendelian disease association found via pubmed
Mendeliome v0.13854 CYP2B6 Ain Roesley reviewed gene: CYP2B6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Efavirenz, poor metabolism of MIM#614546; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13854 DAZ4 Zornitza Stark Marked gene: DAZ4 as ready
Mendeliome v0.13854 DAZ4 Zornitza Stark Gene: daz4 has been classified as Red List (Low Evidence).
Mendeliome v0.13854 DAZ4 Zornitza Stark Classified gene: DAZ4 as Red List (low evidence)
Mendeliome v0.13854 DAZ4 Zornitza Stark Gene: daz4 has been classified as Red List (Low Evidence).
Mendeliome v0.13853 DAZ4 Zornitza Stark reviewed gene: DAZ4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13853 DAZ3 Zornitza Stark Marked gene: DAZ3 as ready
Mendeliome v0.13853 DAZ3 Zornitza Stark Gene: daz3 has been classified as Red List (Low Evidence).
Mendeliome v0.13853 DAZ3 Zornitza Stark Classified gene: DAZ3 as Red List (low evidence)
Mendeliome v0.13853 DAZ3 Zornitza Stark Gene: daz3 has been classified as Red List (Low Evidence).
Mendeliome v0.13852 CYP2A6 Ain Roesley Marked gene: CYP2A6 as ready
Mendeliome v0.13852 CYP2A6 Ain Roesley Gene: cyp2a6 has been classified as Red List (Low Evidence).
Mendeliome v0.13852 DAZ3 Zornitza Stark reviewed gene: DAZ3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13852 CYP2A6 Ain Roesley Phenotypes for gene: CYP2A6 were changed from to Coumarin resistance MIM#122700
Mendeliome v0.13852 CYP2A6 Ain Roesley Classified gene: CYP2A6 as Red List (low evidence)
Mendeliome v0.13852 CYP2A6 Ain Roesley Gene: cyp2a6 has been classified as Red List (Low Evidence).
Mendeliome v0.13851 CYP2A6 Ain Roesley reviewed gene: CYP2A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coumarin resistance MIM#122700; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13851 DAZ2 Zornitza Stark Marked gene: DAZ2 as ready
Mendeliome v0.13851 DAZ2 Zornitza Stark Gene: daz2 has been classified as Red List (Low Evidence).
Mendeliome v0.13851 DAZ2 Zornitza Stark Classified gene: DAZ2 as Red List (low evidence)
Mendeliome v0.13851 DAZ2 Zornitza Stark Gene: daz2 has been classified as Red List (Low Evidence).
Mendeliome v0.13850 DAZ2 Zornitza Stark reviewed gene: DAZ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13850 DAZ1 Zornitza Stark Marked gene: DAZ1 as ready
Mendeliome v0.13850 DAZ1 Zornitza Stark Gene: daz1 has been classified as Red List (Low Evidence).
Mendeliome v0.13850 DAZ1 Zornitza Stark Classified gene: DAZ1 as Red List (low evidence)
Mendeliome v0.13850 DAZ1 Zornitza Stark Gene: daz1 has been classified as Red List (Low Evidence).
Mendeliome v0.13849 DAZ1 Zornitza Stark reviewed gene: DAZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13849 CYP27A1 Ain Roesley Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis
Mendeliome v0.13848 CYP27A1 Ain Roesley Marked gene: CYP27A1 as ready
Mendeliome v0.13848 CYP27A1 Ain Roesley Gene: cyp27a1 has been classified as Green List (High Evidence).
Mendeliome v0.13848 CYP27A1 Ain Roesley Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis
Mendeliome v0.13847 CYP27A1 Ain Roesley Publications for gene: CYP27A1 were set to
Mendeliome v0.13847 CYP27A1 Ain Roesley Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13846 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Mendeliome v0.13846 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Mendeliome v0.13846 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Mendeliome v0.13845 CYP26C1 Ain Roesley Marked gene: CYP26C1 as ready
Mendeliome v0.13845 CYP26C1 Ain Roesley Gene: cyp26c1 has been classified as Green List (High Evidence).
Mendeliome v0.13845 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Mendeliome v0.13845 CYP26C1 Ain Roesley Phenotypes for gene: CYP26C1 were changed from to Focal facial dermal dysplasia 4 MIM#614974
Mendeliome v0.13844 DARS2 Zornitza Stark Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13843 DARS2 Zornitza Stark changed review comment from: Slowly progressive disorder with variable age of onset, multiple families reported.; to: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.
Mendeliome v0.13843 CYP26C1 Ain Roesley Publications for gene: CYP26C1 were set to
Mendeliome v0.13843 CYP26C1 Ain Roesley Mode of inheritance for gene: CYP26C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13842 CYP26C1 Ain Roesley reviewed gene: CYP26C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29263414, 23161670, 16530710; Phenotypes: Focal facial dermal dysplasia 4 MIM#614974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13842 DARS2 Zornitza Stark reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13842 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Mendeliome v0.13842 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Green List (High Evidence).
Mendeliome v0.13842 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria MIM#600721
Mendeliome v0.13841 D2HGDH Zornitza Stark Publications for gene: D2HGDH were set to
Mendeliome v0.13840 D2HGDH Zornitza Stark Mode of inheritance for gene: D2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13839 D2HGDH Zornitza Stark reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 31349060, 15609246, 20020533; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13839 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Mendeliome v0.13839 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Mendeliome v0.13839 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from to Bile acid synthesis defect, congenital, 3 MIM#613812; Spastic paraplegia 5A, autosomal recessive MIM#270800; Disorders of bile acid biosynthesis
Mendeliome v0.13838 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Mendeliome v0.13837 CYP7B1 Zornitza Stark Mode of inheritance for gene: CYP7B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13836 CYP1A2 Ain Roesley Marked gene: CYP1A2 as ready
Mendeliome v0.13836 CYP1A2 Ain Roesley Gene: cyp1a2 has been classified as Red List (Low Evidence).
Mendeliome v0.13836 CYP1A2 Ain Roesley Classified gene: CYP1A2 as Red List (low evidence)
Mendeliome v0.13836 CYP1A2 Ain Roesley Gene: cyp1a2 has been classified as Red List (Low Evidence).
Mendeliome v0.13835 CYP1A2 Ain Roesley reviewed gene: CYP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13835 KLF4 Zornitza Stark Marked gene: KLF4 as ready
Mendeliome v0.13835 KLF4 Zornitza Stark Gene: klf4 has been classified as Green List (High Evidence).
Mendeliome v0.13835 KLF4 Zornitza Stark Mode of inheritance for gene: KLF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13834 CYP19A1 Ain Roesley Marked gene: CYP19A1 as ready
Mendeliome v0.13834 CYP19A1 Ain Roesley Gene: cyp19a1 has been classified as Green List (High Evidence).
Mendeliome v0.13834 CYP19A1 Ain Roesley Tag SV/CNV tag was added to gene: CYP19A1.
Mendeliome v0.13834 CYP19A1 Ain Roesley Phenotypes for gene: CYP19A1 were changed from to Aromatase deficiency (MIM#613546), AR; Aromatase excess syndrome (MIM#139300), AD
Mendeliome v0.13833 CYP19A1 Ain Roesley Publications for gene: CYP19A1 were set to
Mendeliome v0.13833 CYP19A1 Ain Roesley Mode of inheritance for gene: CYP19A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13832 CYP19A1 Ain Roesley reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303, 25264451; Phenotypes: Aromatase deficiency (MIM#613546), AR, Aromatase excess syndrome (MIM#139300), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13832 CYCS Ain Roesley Marked gene: CYCS as ready
Mendeliome v0.13832 CYCS Ain Roesley Gene: cycs has been classified as Green List (High Evidence).
Mendeliome v0.13832 CYCS Ain Roesley Phenotypes for gene: CYCS were changed from to Thrombocytopenia 4, MIM# 612004
Mendeliome v0.13831 CYCS Ain Roesley Publications for gene: CYCS were set to
Mendeliome v0.13831 CYCS Ain Roesley Mode of inheritance for gene: CYCS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13830 CYCS Ain Roesley reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24326104, 18345000, 30051457; Phenotypes: Thrombocytopenia 4, MIM# 612004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13830 NRG1 Zornitza Stark Phenotypes for gene: NRG1 were changed from Hirschsprung disease to Hirschsprung disease, MONDO:0018309; Peripheral neuropathy MONDO:0005244
Mendeliome v0.13829 NRG1 Zornitza Stark Classified gene: NRG1 as Amber List (moderate evidence)
Mendeliome v0.13829 NRG1 Zornitza Stark Gene: nrg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13828 CYC1 Ain Roesley Marked gene: CYC1 as ready
Mendeliome v0.13828 CYC1 Ain Roesley Gene: cyc1 has been classified as Green List (High Evidence).
Mendeliome v0.13828 CTR9 Zornitza Stark Phenotypes for gene: CTR9 were changed from Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258) to Neurodevelopmental disorder (MONDO:0700092), CTR9 related
Mendeliome v0.13827 CYC1 Ain Roesley Publications for gene: CYC1 were set to
Mendeliome v0.13828 CYC1 Ain Roesley Phenotypes for gene: CYC1 were changed from to Mitochondrial complex III deficiency, nuclear type 6 MIM#615453
Mendeliome v0.13827 CYC1 Ain Roesley Mode of inheritance for gene: CYC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13826 CYC1 Ain Roesley reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910460, 34252606; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6 MIM#615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13826 DNAH14 Zornitza Stark Phenotypes for gene: DNAH14 were changed from Neurodevelopmental disorder, DNAH14-related (MONDO#0700092) to Neurodevelopmental disorder (MONDO#0700092), DNAH14-related
Mendeliome v0.13825 HNRNPA2B1 Zornitza Stark Phenotypes for gene: HNRNPA2B1 were changed from Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 to oculopharyngeal muscular dystrophy, MONDO:0008116; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Mendeliome v0.13824 HNRNPA2B1 Zornitza Stark Classified gene: HNRNPA2B1 as Green List (high evidence)
Mendeliome v0.13824 HNRNPA2B1 Zornitza Stark Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Mendeliome v0.13823 DTYMK Zornitza Stark Phenotypes for gene: DTYMK were changed from Intellectual disability; microcephaly to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
Mendeliome v0.13822 DTYMK Zornitza Stark Publications for gene: DTYMK were set to 31271740
Mendeliome v0.13821 DTYMK Zornitza Stark Classified gene: DTYMK as Green List (high evidence)
Mendeliome v0.13821 DTYMK Zornitza Stark Gene: dtymk has been classified as Green List (High Evidence).
Mendeliome v0.13820 KCNH5 Zornitza Stark Marked gene: KCNH5 as ready
Mendeliome v0.13820 KCNH5 Zornitza Stark Gene: kcnh5 has been classified as Green List (High Evidence).
Mendeliome v0.13820 CREB1 Zornitza Stark Phenotypes for gene: CREB1 were changed from corpus callosum agenesis; thyroid follicular hypoplasia to Agenesis of corpus callosum, MONDO:0009022
Mendeliome v0.13819 CREB1 Zornitza Stark edited their review of gene: CREB1: Changed rating: RED
Mendeliome v0.13819 CREB1 Zornitza Stark reviewed gene: CREB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of corpus callosum, MONDO:0009022; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13819 SLC16A12 Zornitza Stark Marked gene: SLC16A12 as ready
Mendeliome v0.13819 SLC16A12 Zornitza Stark Gene: slc16a12 has been classified as Green List (High Evidence).
Mendeliome v0.13819 SLC16A12 Zornitza Stark Phenotypes for gene: SLC16A12 were changed from to Cataract 47, juvenile, with microcornea, MIM# 612018
Mendeliome v0.13818 SLC16A12 Zornitza Stark Publications for gene: SLC16A12 were set to