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Infertility and Recurrent Pregnancy Loss v1.123 C17orf80 Zornitza Stark Gene: c17orf80 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.123 Zornitza Stark Copied gene C17orf80 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.123 C17orf80 Zornitza Stark gene: C17orf80 was added
gene: C17orf80 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
new gene name tags were added to gene: C17orf80.
Mode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf80 were set to 41720819
Phenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970
Mendeliome v1.4529 C17orf80 Zornitza Stark Marked gene: C17orf80 as ready
Mendeliome v1.4529 C17orf80 Zornitza Stark Gene: c17orf80 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4529 C17orf80 Zornitza Stark Classified gene: C17orf80 as Amber List (moderate evidence)
Mendeliome v1.4529 C17orf80 Zornitza Stark Gene: c17orf80 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4528 C17orf80 Zornitza Stark gene: C17orf80 was added
gene: C17orf80 was added to Mendeliome. Sources: Literature
new gene name tags were added to gene: C17orf80.
Mode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf80 were set to 41720819
Phenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970
Review for gene: C17orf80 was set to AMBER
Added comment: PMID 41720819 reports 3 individuals from 2 unrelated families with biallelic MTNAP1 variants (hmz missense and hmz LoF) presenting with early‑onset global developmental delay, ataxia, spasticity, seizures and progressive cerebral and cerebellar atrophy. Functional studies in proband-derived fibroblasts and MTNAP1-silenced neuronal cells implicated profound mitochondrial fragmentation, reduced oxidative phosphorylation capacity, increased reactive oxygen species accumulation, and premature senescence-like stress responses. Structural modeling and biophysical analyses revealed that the p.G553R variant destabilizes the MTNAP1 fold, disrupts its DNA- and membrane-binding interfaces, and induces aberrant aggregation, leading to loss of mitochondrial integrity.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.122 CCDC113 Zornitza Stark Marked gene: CCDC113 as ready
Infertility and Recurrent Pregnancy Loss v1.122 CCDC113 Zornitza Stark Gene: ccdc113 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.122 Zornitza Stark Copied gene CCDC113 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.122 CCDC113 Zornitza Stark gene: CCDC113 was added
gene: CCDC113 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CCDC113 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC113 were set to 41645397; 41645397
Phenotypes for gene: CCDC113 were set to Infertility disorder, MONDO:0005047, CCDC113-related
Mendeliome v1.4527 CCDC113 Zornitza Stark Marked gene: CCDC113 as ready
Mendeliome v1.4527 CCDC113 Zornitza Stark Gene: ccdc113 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4527 CCDC113 Zornitza Stark Classified gene: CCDC113 as Amber List (moderate evidence)
Mendeliome v1.4527 CCDC113 Zornitza Stark Gene: ccdc113 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4526 CCDC113 Zornitza Stark gene: CCDC113 was added
gene: CCDC113 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC113 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC113 were set to 41645397; 41645397
Phenotypes for gene: CCDC113 were set to Infertility disorder, MONDO:0005047, CCDC113-related
Review for gene: CCDC113 was set to AMBER
Added comment: PMID 41645397 reports three affected men from two unrelated families who carry biallelic missense variants in CFAP263 (CCDC113) and present with severe oligoasthenoteratozoospermia. The variants cosegregate as recessive, are absent from population databases, and functional studies (reduced protein stability and a Ccdc113 knockout mouse model) recapitulate the infertility phenotype.
Sources: Literature
Mendeliome v1.4525 ASCL5 Zornitza Stark Marked gene: ASCL5 as ready
Mendeliome v1.4525 ASCL5 Zornitza Stark Gene: ascl5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4525 ASCL5 Zornitza Stark Classified gene: ASCL5 as Amber List (moderate evidence)
Mendeliome v1.4525 ASCL5 Zornitza Stark Gene: ascl5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4524 ASCL5 Zornitza Stark gene: ASCL5 was added
gene: ASCL5 was added to Mendeliome. Sources: Literature
founder tags were added to gene: ASCL5.
Mode of inheritance for gene: ASCL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASCL5 were set to 41673016
Phenotypes for gene: ASCL5 were set to Tooth disorder, MONDO:0006999, ASCL5-related
Review for gene: ASCL5 was set to AMBER
Added comment: [PMID 41673016] reports 17 individuals from 6 unrelated families with heterozygous missense ASCL5 c.274G>A (p.Glu92Lys) variants presenting with autosomal‑dominant lobodontia, characterized by supernumerary cusps, single pyramidal roots, and taurodontism. The variant fully co‑segregates with disease, is absent from population databases, and functional studies (CRISPR knock‑in mouse, luciferase reporter, RNA‑seq) demonstrate loss‑of‑function of ASCL5 transcriptional activation.

Amber rating due to this being a likely founder variant and not necessarily perceived as disease.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.121 ASB9 Zornitza Stark Marked gene: ASB9 as ready
Infertility and Recurrent Pregnancy Loss v1.121 ASB9 Zornitza Stark Gene: asb9 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.121 Zornitza Stark Copied gene ASB9 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.121 ASB9 Zornitza Stark gene: ASB9 was added
gene: ASB9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ASB9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ASB9 were set to 41730923
Phenotypes for gene: ASB9 were set to Infertility disorder, MONDO:0005047, ASB9-related
Mendeliome v1.4523 ASB9 Zornitza Stark edited their review of gene: ASB9: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4523 ASB9 Zornitza Stark Marked gene: ASB9 as ready
Mendeliome v1.4523 ASB9 Zornitza Stark Gene: asb9 has been classified as Green List (High Evidence).
Mendeliome v1.4523 ASB9 Zornitza Stark Mode of inheritance for gene: ASB9 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4522 ASB9 Zornitza Stark Classified gene: ASB9 as Green List (high evidence)
Mendeliome v1.4522 ASB9 Zornitza Stark Gene: asb9 has been classified as Green List (High Evidence).
Mendeliome v1.4521 ASB9 Zornitza Stark gene: ASB9 was added
gene: ASB9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ASB9 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: ASB9 were set to 41730923
Phenotypes for gene: ASB9 were set to Infertility disorder, MONDO:0005047, ASB9-related
Review for gene: ASB9 was set to GREEN
Added comment: PMID 41730923 reports four unrelated male patients with hemizygous missense ASB9 variants presenting with idiopathic oligoasthenoteratozoospermia. Functional studies reveal reduced ASB9 protein stability, impaired interaction with TUBB4A, and mouse knockout/knock‑in models recapitulate the infertility phenotype, supporting a loss‑of‑function disease mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.696 RDH11 Lucy Spencer changed review comment from: PMID: 41459630 proband with oligodontia and malocclusion, dysmorphic hands and feet, microcephaly, ASD but otherwise normal development, homozygous for Cys72*. following the genetic findings the proband had an ophthalmological examination which showed a mild retinopathy consisting of yellow deposits and hyperpigmentation within the RPE, but the patient was visually asymptomatic at age 7. However in the original family PMID: 24916380 progressive visual acuity decrease did not occur until ages 10 or 8 in the 3 affected siblings. This family also had widely spaced oligodontia and malocclusion.; to: PMID: 41459630 proband with oligodontia and malocclusion, dysmorphic hands and feet, microcephaly, ASD but otherwise normal development, homozygous for Cys72*. following the genetic findings the proband had an ophthalmological examination which showed a mild retinopathy consisting of yellow deposits and hyperpigmentation within the RPE, but the patient was visually asymptomatic at age 7. However in the original family PMID: 24916380 progressive visual acuity decrease did not occur until ages 10 or 8 in the 3 affected siblings. This family also had widely spaced oligodontia and malocclusion.

ID also reported in PMID: 24916380 and PMID 34988992 families
Syndromic Retinopathy v0.248 RDH11 Lucy Spencer Classified gene: RDH11 as Green List (high evidence)
Syndromic Retinopathy v0.248 RDH11 Lucy Spencer Gene: rdh11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.696 RDH11 Lucy Spencer Classified gene: RDH11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.696 RDH11 Lucy Spencer Gene: rdh11 has been classified as Green List (High Evidence).
Mendeliome v1.4520 RDH11 Lucy Spencer Publications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732
Syndromic Retinopathy v0.247 Lucy Spencer Added reviews for gene RDH11 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.695 Lucy Spencer Copied gene RDH11 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.695 RDH11 Lucy Spencer gene: RDH11 was added
gene: RDH11 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: RDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732
Phenotypes for gene: RDH11 were set to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108
Mendeliome v1.4519 RDH11 Lucy Spencer Classified gene: RDH11 as Green List (high evidence)
Mendeliome v1.4519 RDH11 Lucy Spencer Gene: rdh11 has been classified as Green List (High Evidence).
Mendeliome v1.4518 RDH11 Lucy Spencer reviewed gene: RDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 41459630; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.148 RAB1A Lucy Spencer Classified gene: RAB1A as Green List (high evidence)
Hereditary Spastic Paraplegia v1.148 RAB1A Lucy Spencer Gene: rab1a has been classified as Green List (High Evidence).
Mendeliome v1.4518 RAB1A Lucy Spencer Publications for gene: RAB1A were set to 37924809
Mendeliome v1.4517 RAB1A Lucy Spencer Classified gene: RAB1A as Green List (high evidence)
Mendeliome v1.4517 RAB1A Lucy Spencer Gene: rab1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.694 RAB1A Lucy Spencer Publications for gene: RAB1A were set to PMID: 37924809
Intellectual disability syndromic and non-syndromic v1.693 RAB1A Lucy Spencer Classified gene: RAB1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.693 RAB1A Lucy Spencer Gene: rab1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.692 Lucy Spencer Added reviews for gene RAB1A from panel Mendeliome
Hereditary Spastic Paraplegia v1.147 Lucy Spencer Copied gene RAB1A from panel Mendeliome
Hereditary Spastic Paraplegia v1.147 RAB1A Lucy Spencer gene: RAB1A was added
gene: RAB1A was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAB1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB1A were set to 37924809
Phenotypes for gene: RAB1A were set to neurodevelopmental disorder MONDO:0700092, RAB1A-related
Mendeliome v1.4516 RAB1A Lucy Spencer changed review comment from: PMID: 37924809 2 families with PTCs inherited from affected fathers (Arg175* and Thr43fs), another proband with a PTC and unknown inheritance (Val22fs) and a 4th proband with a de novo missense (Leu28Pro). All variants were absent from gnomad except Val22fs which has a PTC within the first 102 nucleotides so is likely to escape NMD. Arg175* was in the last exon and also escapes NMD and removes two C-terminal prenylated cysteine residues that direct the subcellular localization and activity of Rab proteins. Studies in transfected cells showed a construct truncated protein failed to localise to the golgi. In KO cells both Arg175* and Leu28pro failed to rescue the phenotype.

PMID: 38091987: two new probands with NDD and spasticity. One de novo for Ser200*, 2nd patient de novo for Arg175* same variant previously identified in a family from the previous paper. This new paper also says they have an aditional 3rd family with 2 affected siblings and an affected mother who also have Arg175*.; to: PMID: 37924809 2 families with PTCs inherited from affected fathers (Arg175* and Thr43fs), another proband with a PTC and unknown inheritance (Val22fs) and a 4th proband with a de novo missense (Leu28Pro). All variants were absent from gnomad except Val22fs which has a PTC within the first 102 nucleotides so is likely to escape NMD. Arg175* was in the last exon and also escapes NMD and removes two C-terminal prenylated cysteine residues that direct the subcellular localization and activity of Rab proteins. Studies in transfected cells showed a construct truncated protein failed to localise to the golgi. In KO cells both Arg175* and Leu28pro failed to rescue the phenotype.

The individual with the missense variant had a more severe phenotype involving abnormal MRI findings and spondyloepimetaphyseal dysplasia, the functional studies suggested this variant has a dominant negative effect which would explain this.

PMID: 38091987: two new probands with NDD and spasticity. One de novo for Ser200*, 2nd patient de novo for Arg175* same variant previously identified in a family from the previous paper. This new paper also says they have an aditional 3rd family with 2 affected siblings and an affected mother who also have Arg175*.
Mendeliome v1.4516 RAB1A Lucy Spencer reviewed gene: RAB1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37924809, 38091987; Phenotypes: neurodevelopmental disorder MONDO:0700092, RAB1A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4516 TKFC Sarah Milton reviewed gene: TKFC: Rating: AMBER; Mode of pathogenicity: None; Publications: 38697782, 32004446; Phenotypes: Triokinase and FMN cyclase deficiency syndrome, MONDO:0032927; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.35 KCNJ11 Zornitza Stark changed review comment from: There are arguments both for and against including this gene in gNBS -- decision may depend on level of integration between clinical-laboratory pathways and turnaround time.; to: Reviewed at Gene List subcommittee meeting 13/3/26.

There are arguments both for and against including this gene in gNBS -- decision may depend on level of integration between clinical-laboratory pathways and turnaround time.
Genomic newborn screening: ICoNS v0.35 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Genomic newborn screening: ICoNS v0.35 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: ICoNS v0.35 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from Familial Hyperinsulinemic hypoglycemia 2 (CHI); MODY type 13; neonatale diabetes; DEND Syndrome to Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820
Genomic newborn screening: ICoNS v0.34 KCNJ11 Zornitza Stark Classified gene: KCNJ11 as Amber List (moderate evidence)
Genomic newborn screening: ICoNS v0.34 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: ICoNS v0.33 KCNJ11 Zornitza Stark reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.33 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Genomic newborn screening: ICoNS v0.33 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.33 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600
Genomic newborn screening: ICoNS v0.32 BCKDHA Zornitza Stark Classified gene: BCKDHA as Green List (high evidence)
Genomic newborn screening: ICoNS v0.32 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.31 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.31 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Genomic newborn screening: ICoNS v0.31 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.31 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600
Genomic newborn screening: ICoNS v0.30 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Genomic newborn screening: ICoNS v0.30 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.29 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.29 KCNJ11 Val Jacquemin gene: KCNJ11 was added
gene: KCNJ11 was added to Genomic newborn screening: ICoNS. Sources: Other
Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KCNJ11 were set to PMID: 28824061; PMID: 32027066; PMID: 21674179; PMID: 38226203; PMID: 26908106
Phenotypes for gene: KCNJ11 were set to Familial Hyperinsulinemic hypoglycemia 2 (CHI); MODY type 13; neonatale diabetes; DEND Syndrome
Review for gene: KCNJ11 was set to RED
Added comment: 1) Mutations in the KCNJ11 gene affect the ATP-sensitive potassium (KATP) channel in pancreatic β-cells, which links cellular metabolism to insulin secretion. When gain-of-function mutations occur, the KATP channel remains excessively open, preventing β-cell depolarization and impairing insulin release; this mechanism causes monogenic diabetes that can present either as Neonatal diabetes or as MODY13 depending largely on mutation severity and age of onset. Heterozygous activating mutations in KCNJ11 were first shown to cause neonatal diabetes, demonstrating that increased KATP channel activity suppresses insulin secretion and leads to hyperglycemia (Shimomura & Maejima 2017). The most severe activating mutations can also affect neuronal KATP channels, leading to the syndromic form known as DEND syndrome, characterized by developmental delay, epilepsy, and neonatal diabetes. Because milder activating variants may allow partial insulin secretion, diabetes can appear later in life and be classified as MODY13, placing both conditions on a clinical spectrum of KATP channel overactivity (De Franco et al. 2020). As activating mutations in KCNJ11 can lead either to neonatal diabetes or to MODY13, genotype alone does not reliably predict the age of disease onset. MODY13 typically manifests much later in life; reported cases show onset ranging from approximately 9 to 28 years of age, with many patients developing diabetes during adolescence (Chen et al. 2023). Because gNBS programs generally target disorders that produce symptoms in early childhood (e.g., before about 5 years of age) and require early intervention, MODY13 falls outside the scope of these screening criteria. Consequently, detecting a KCNJ11 activating mutation in a newborn would not allow clinicians to determine whether the child will develop neonatal diabetes in infancy or a later-onset MODY13 phenotype. For this reason, neonatal diabetes cannot reliably be included as a standalone condition in gNBS based solely on KCNJ11 variants.

In contrast, the opposite mechanism, loss-of-function mutations in KATP channel genes such as KCNJ11, causes Congenital hyperinsulinism (familial hyperinsulinemic hypoglycemia), where defective channels cannot open, leading to persistent β-cell depolarization and inappropriate insulin secretion even during hypoglycemia. Most severe KATP-related CHI cases follow an autosomal recessive inheritance pattern, although some mutations can act dominantly and produce milder phenotypes (Kapoor et al. 2011). When focusing specifically on autosomal recessive KCNJ11-related CHI, biallelic inactivating mutations disrupt KATP channel activity and typically result in severe neonatal hypoglycemia. From a screening perspective, CHI typically presents with symptomatic hypoglycemia very shortly after birth, meaning it is usually detected rapidly through clinical glucose monitoring, thereby limiting the added value of gNBS (Stanley, 2016).

In their comparative analysis of genomic newborn sequencing initiatives, Thomas Minten and colleagues reported that the KCNJ11 gene is included in 17 of the 27 gNBS programs evaluated in the study. These programs include BabySeq, BabyDetect, BeginNGS, Early Check, the GUARDIAN study, NESTS (Newborn Sequencing in Genomic Medicine and Public Health), gnSTAR, the Chen et al. newborn sequencing cohort, the Wang et al. newborn sequencing study, the Yang et al. multicenter sequencing study, the PerkinElmer genomic newborn screening panel, the PerkinElmer GS program, the NeoExome panel, BabyScreen+, NeoSeq, the targeted panel described by Huang et al. (inborn disorders of neonates), and the sequencing pilot described by Jian et al. (WGS screening pilot). However, the analysis compares gene inclusion rather than specific target conditions, and it is therefore not always clear which disease associated with KCNJ11 (e.g., monogenic diabetes or congenital hyperinsulinism) is intended to be screened for in each program.

2) ClinGen curation
The KCNJ11 gene has been curated by Clinical Genome Resource (ClinGen) for its role in monogenic diabetes. ClinGen has classified the association between KCNJ11 and KATP-channel–related diabetes as Definitive, based on strong genetic and experimental evidence. Pathogenic variants in KCNJ11 are well established causes of Neonatal diabetes and MODY13 through gain-of-function effects on the KATP channel. The gene is also associated with Congenital hyperinsulinism through loss-of-function variants. ClinGen curation therefore supports a strong gene–disease relationship for both monogenic diabetes and hyperinsulinism.

3) Treatability and evidence
Clinical studies have demonstrated that a large proportion of individuals with KCNJ11-related neonatal diabetes can successfully switch from insulin injections to sulfonylureas, leading to improved glycemic control and quality of life (Pearson et al., 2006, New England Journal of Medicine). In addition to improving metabolic control, early treatment may also improve neurological outcomes in some patients with syndromic forms of the disease such as DEND syndrome.
For CHI (caused by loss-of-function KATP mutations), treatment may include diazoxide therapy, which acts as a KATP channel opener, although many recessive KATP-channel cases are diazoxide-unresponsive and may require pancreatectomy. Early diagnosis is therefore clinically important to prevent severe hypoglycemia and neurological damage.

4) Impact of treatment
The clinical impact of appropriate treatment can be substantial:
KCNJ11 neonatal diabetes --> switch from insulin to oral sulfonylureas, improved glycemic control, reduced treatment burden, potential improvement in neurological symptoms when therapy is initiated early
Congenital hyperinsulinism --> diazoxide or octreotide therapy may prevent hypoglycemia,
early recognition prevents hypoglycemic brain injury

5) Issues with genomic screening
Despite the strong gene–disease association and available treatments, several challenges exist for genomic newborn screening of KCNJ11.
Phenotypic ambiguity --> same mutation type in KCNJ11 can cause neonatal diabetes or MODY13 which have different ages of onset

Technical sequencing considerations --> from a sequencing perspective, KCNJ11 is technically straightforward to analyze: small gene, no pseudogenes, good coverage in both exome and genome sequencing

Clinical detection without genomics --> for autosomal recessive KCNJ11-related congenital hyperinsulinism, symptoms usually appear shortly after birth with severe hypoglycemia. Because neonatal glucose levels are routinely monitored, many cases are detected rapidly through standard clinical care, limiting the additional value of genomic newborn screening. Neonatal diabetes presents with persistent hyperglycemia in infancy, often leading to rapid clinical investigation.
Sources: Other
Genomic newborn screening: ICoNS v0.29 BCKDHB José Manuel González de Aledo Castillo gene: BCKDHB was added
gene: BCKDHB was added to Genomic newborn screening: ICoNS. Sources: Expert Review,Literature
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Gene disease association evidence:

Disease: Maple syrup urine disease type 1A (MSUD1B), autosomal recessive.
Gene: BCKDHB encodes the E1β subunit of the branched-chain α-ketoacid dehydrogenase complex. Loss of function at the protein level reduces BCKD activity and causes toxic accumulation of branched-chain amino acids and ketoacids. BCKDHB variants account for ~35% of MSUD cases

Curation by ClinGen:
ClinGen gene–disease validity: Definitive

Treatability and evidence behind that including impact of treatment:
Standard care is dietary leucine restriction, BCAA-free supplements, supplementation with isoleucine and valine as needed, and frequent biochemical monitoring. Acute metabolic crises need urgent metabolic management.
Early treatment of asymptomatic infants detected by NBS means that most who would have developed neonatal manifestations remain asymptomatic with good treatment adherence . NBS cases has better survival than clinically diagnosed cases: 62.5% versus 5.2%
For severe MSUD, liver transplantation can be an option

Issues with genomic screening
Main problem would be turnaround time

Any variants of interest
The pathogenic spectrum is dominated by missense variants, also there also reported truncating variants.
c.548G>C (p.Arg183Pro): well-known Ashkenazi Jewish founder variant.

Who has excluded in genomic newborn screening it and why:
BeginNGS in previous genelists, now included

Traditional newborn screening in any jurisdiction:
Included in RUSP and most NBS wordlwide
Sources: Expert Review, Literature
Genomic newborn screening: ICoNS v0.29 BCKDHA José Manuel González de Aledo Castillo gene: BCKDHA was added
gene: BCKDHA was added to Genomic newborn screening: ICoNS. Sources: Literature
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Gene–disease association evidence:
Disease: Maple syrup urine disease type 1A (MSUD1A), autosomal recessive.
Gene: BCKDHA encodes the E1α subunit of the branched-chain α-ketoacid dehydrogenase complex. Loss of function at the protein level reduces BCKD activity and causes toxic accumulation of branched-chain amino acids and ketoacids. BCKDHA variants account for ~45% of MSUD cases

Curation by ClinGen:
ClinGen gene–disease validity: Definitive

Treatability and evidence behind that including impact of treatment:
Standard care is dietary leucine restriction, BCAA-free supplements, supplementation with isoleucine and valine as needed, and frequent biochemical monitoring. Acute metabolic crises need urgent metabolic management.
Early treatment of asymptomatic infants detected by NBS means that most who would have developed neonatal manifestations remain asymptomatic with good treatment adherence . NBS cases has better survival than clinically diagnosed cases: 62.5% versus 5.2%
For severe MSUD, liver transplantation can be an option

Issues with genomic screening
Main problem would be turnaround time

Any variants of interest
The pathogenic spectrum is dominated by missense variants, also there also reported truncating variants.
c.1312T>A, p.Tyr438Asn (Old Order/Swiss Mennonites). High prevalence in these populations

Who has excluded in genomic newborn screening it and why:
BeginNGS in previous genelists, now included

Traditional newborn screening in any jurisdiction:
Included in RUSP and most NBS wordlwide
Sources: Literature
Mendeliome v1.4516 ANLN Zornitza Stark Publications for gene: ANLN were set to 24676636; 30002222; 34819827; 38322629; 37957688
Mendeliome v1.4515 ANLN Zornitza Stark edited their review of gene: ANLN: Added comment: PMID 41492027: two individuals from a single family with missense variant and FSGS phenotype. Insufficient segregation. Retain Amber rating as many of the previously reported variants have high pop frequencies.; Changed publications: 24676636, 30002222, 34819827, 38322629, 37957688, 41492027
Proteinuria v0.239 ANLN Zornitza Stark Publications for gene: ANLN were set to 24676636; 30002222; 34819827; 38322629; 37957688
Proteinuria v0.238 ANLN Zornitza Stark edited their review of gene: ANLN: Added comment: PMID 41492027: two individuals from a single family with missense variant and FSGS phenotype. Insufficient segregation. Retain Amber rating as many of the previously reported variants have high pop frequencies.; Changed publications: 24676636, 30002222, 41492027
Mendeliome v1.4515 AHR Zornitza Stark Publications for gene: AHR were set to 29726989; 31896775
Mendeliome v1.4514 AHR Zornitza Stark edited their review of gene: AHR: Added comment: PMID 38922562 reports third family with foveal hypoplasia, homozygous variant. Retain Amber rating.; Changed publications: 31009037, 33193710, 38922562
Mendeliome v1.4514 JKAMP Zornitza Stark Marked gene: JKAMP as ready
Mendeliome v1.4514 JKAMP Zornitza Stark Gene: jkamp has been classified as Green List (High Evidence).
Genetic Epilepsy v1.383 JKAMP Zornitza Stark Marked gene: JKAMP as ready
Genetic Epilepsy v1.383 JKAMP Zornitza Stark Gene: jkamp has been classified as Green List (High Evidence).
Mendeliome v1.4514 Zornitza Stark Copied gene JKAMP from panel Intellectual disability syndromic and non-syndromic
Mendeliome v1.4514 JKAMP Zornitza Stark gene: JKAMP was added
gene: JKAMP was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JKAMP were set to 41643666
Phenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM# 621533
Microcephaly v1.418 JKAMP Zornitza Stark Marked gene: JKAMP as ready
Microcephaly v1.418 JKAMP Zornitza Stark Gene: jkamp has been classified as Green List (High Evidence).
Microcephaly v1.418 Zornitza Stark Copied gene JKAMP from panel Intellectual disability syndromic and non-syndromic
Microcephaly v1.418 JKAMP Zornitza Stark gene: JKAMP was added
gene: JKAMP was added to Microcephaly. Sources: Expert Review Green,Literature
Mode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JKAMP were set to 41643666
Phenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM# 621533
Genetic Epilepsy v1.383 Zornitza Stark Copied gene JKAMP from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.383 JKAMP Zornitza Stark gene: JKAMP was added
gene: JKAMP was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JKAMP were set to 41643666
Phenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM# 621533
Intellectual disability syndromic and non-syndromic v1.691 JKAMP Zornitza Stark Marked gene: JKAMP as ready
Intellectual disability syndromic and non-syndromic v1.691 JKAMP Zornitza Stark Gene: jkamp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.691 JKAMP Zornitza Stark Classified gene: JKAMP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.691 JKAMP Zornitza Stark Gene: jkamp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.690 JKAMP Zornitza Stark gene: JKAMP was added
gene: JKAMP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JKAMP were set to 41643666
Phenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM# 621533
Review for gene: JKAMP was set to GREEN
Added comment: 14 individuals from 10 families reported. All had moderate to profound neurodevelopmental delay, intellectual disability, and infantile-onset epilepsy. Six were nonverbal, and the remaining individuals spoke only a few words. Five individuals had neurodevelopmental regression. Three individuals died suddenly; death was associated with seizures or status epilepticus in two. Thirteen individuals had hypotonia, 5 had visual impairment, 5 had microcephaly, and 1 had hearing loss. Brain MRIs showed cortical or cerebral atrophy in 11, delayed myelination in 6, and diffuse demyelinating disease in 1.
Sources: Literature
Mendeliome v1.4513 MDH1 Rylee Peters Publications for gene: MDH1 were set to 31538237
Mendeliome v1.4512 MDH1 Rylee Peters reviewed gene: MDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 40959467, 31538237; Phenotypes: Developmental and epileptic encephalopathy 88, MIM#618959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.607 Sarah Milton Copied Region LMNB1 upstream region from panel Mendeliome
Regression v0.607 LMNB1 upstream region Sarah Milton Region: LMNB1 upstream region was added
Region: LMNB1 upstream region was added to Regression. Sources: Literature
Mode of inheritance for Region: LMNB1 upstream region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: LMNB1 upstream region were set to PMID: 30842973; 30697589; 25701871
Phenotypes for Region: LMNB1 upstream region were set to Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215
Mendeliome v1.4512 LMNB1 upstream region Sarah Milton Region: LMNB1 upstream region was added
Region: LMNB1 upstream region was added to Mendeliome. Sources: Literature
Mode of inheritance for Region: LMNB1 upstream region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: LMNB1 upstream region were set to PMID: 30842973; 30697589; 25701871
Phenotypes for Region: LMNB1 upstream region were set to Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215
Review for Region: LMNB1 upstream region was set to GREEN
Added comment: LMNB1 encodes an intermediate filament proteins which play a role in forming the nuclear lamina lining the inner nuclear membrane. Overexpression of LMNB1 via gene duplication has been well established to cause adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215.

PMID: 30842973; 30697589; 25701871 report deletional forms of the phenotype. With an approx 167kb minimal critical region upstream of LMNB1 that has been associated with adult-onset autosomal dominant demyelinating leukodystrophy in 5 families with over 35 individuals affected.

The deletion is upstream of the promoter of LMNB1 and involves other protein coding genes (ALDH7A1/PHAX) that are thought to be bystanders. The proposed molecular mechanism of disease for these deletions is disruption of a topologically associated domain boundary resulting in overexpression of LMNB1. This occurs by placing the promoter in closer proximity to an upstream enhancer element.

Extensive functional studies support this hypothesis and affected individuals have been shown to have upregulated LMNB1 protein on Western blot.

Note the coordinates differ between families with much larger deletions reported in many affected individuals.
Sources: Literature
Mendeliome v1.4511 FRMD4A Sangavi Sivagnanasundram reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34869127; Phenotypes: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, MONDO:0014787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.301 Sangavi Sivagnanasundram Added reviews for gene FAM92A from panel Mendeliome
Mendeliome v1.4511 FAM92A Sangavi Sivagnanasundram reviewed gene: FAM92A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38853702; Phenotypes: Polydactyly, postaxial, type A9, MONDO:0032603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4511 TNNI1 Sarah Milton reviewed gene: TNNI1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30886088; Phenotypes: Sudden unexpected infant death, MONDO:1010116, TNNI1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4511 ADIPOR1 Zornitza Stark Phenotypes for gene: ADIPOR1 were changed from Retinitis pigmentosa to Retinitis pigmentosa, MONDO:0019200, ADIPOR1-related; Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related
Mendeliome v1.4510 ADIPOR1 Zornitza Stark Publications for gene: ADIPOR1 were set to 27655171; 26662040
Mendeliome v1.4509 ADIPOR1 Zornitza Stark edited their review of gene: ADIPOR1: Added comment: PMID 33523960 reports five individuals from four unrelated South‑Asian families carrying heterozygous missense variants (c.470T>A p.L157H, c.436G>A p.V146M, c.433T>A p.F145I) who present with HCM; three of the five also have diabetes mellitus. All variants are absent or ultra‑rare in public databases, three are de novo events, and functional assays in rat cardiomyocytes and a Cre‑V146M transgenic mouse model show hyperactivation of p38/mTOR and/or ERK pathways, cardiomyocyte hypertrophy, metabolic dysregulation and rescue by rapamycin.; Changed publications: 27655171, 26662040, 33523960; Changed phenotypes: Retinitis pigmentosa, MONDO:0019200, ADIPOR1-related, Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related
Hypertrophic cardiomyopathy v1.25 ADIPOR1 Zornitza Stark Marked gene: ADIPOR1 as ready
Hypertrophic cardiomyopathy v1.25 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.25 ADIPOR1 Zornitza Stark Classified gene: ADIPOR1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.25 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.24 ADIPOR1 Zornitza Stark gene: ADIPOR1 was added
gene: ADIPOR1 was added to Hypertrophic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: ADIPOR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADIPOR1 were set to 33523960
Phenotypes for gene: ADIPOR1 were set to Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related
Review for gene: ADIPOR1 was set to AMBER
Added comment: The study reports five individuals from four unrelated South‑Asian families carrying heterozygous missense variants (c.470T>A p.L157H, c.436G>A p.V146M, c.433T>A p.F145I) who present with HCM; three of the five also have diabetes mellitus. All variants are absent or ultra‑rare in public databases, three are de novo events, and functional assays in rat cardiomyocytes and a Cre‑V146M transgenic mouse model show hyperactivation of p38/mTOR and/or ERK pathways, cardiomyocyte hypertrophy, metabolic dysregulation and rescue by rapamycin.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v1.52 CYS1 Lucy Spencer Phenotypes for gene: CYS1 were changed from Polycystic kidney disease, MONDO:0020642 to Polycystic kidney disease MONDO:0020642, CYS1-related
Renal Ciliopathies and Nephronophthisis v1.51 CYS1 Lucy Spencer Publications for gene: CYS1 were set to 34521872
Renal Ciliopathies and Nephronophthisis v1.50 CYS1 Lucy Spencer Classified gene: CYS1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v1.50 CYS1 Lucy Spencer Gene: cys1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.49 Lucy Spencer Added reviews for gene CYS1 from panel Mendeliome
Renal Macrocystic Disease v0.105 Lucy Spencer Copied gene CYS1 from panel Mendeliome
Renal Macrocystic Disease v0.105 CYS1 Lucy Spencer gene: CYS1 was added
gene: CYS1 was added to Renal Macrocystic Disease. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYS1 were set to 41720266; 34521872
Phenotypes for gene: CYS1 were set to Polycystic kidney disease MONDO:0020642, CYS1-related
Mendeliome v1.4509 CYS1 Lucy Spencer Classified gene: CYS1 as Green List (high evidence)
Mendeliome v1.4509 CYS1 Lucy Spencer Gene: cys1 has been classified as Green List (High Evidence).
Mendeliome v1.4508 CYS1 Lucy Spencer Phenotypes for gene: CYS1 were changed from Polycystic kidney disease, MONDO:0020642 to Polycystic kidney disease MONDO:0020642, CYS1-related
Mendeliome v1.4507 CYS1 Lucy Spencer Publications for gene: CYS1 were set to 34521872
Mendeliome v1.4506 CYS1 Lucy Spencer reviewed gene: CYS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41720266, 34521872; Phenotypes: Polycystic kidney disease MONDO:0020642, CYS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4506 FAM20B Sangavi Sivagnanasundram changed review comment from: 5 affected individuals from 2 unrelated families with autosomal recessive biallelic loss‑of‑function FAM20B variants presenting with lethal Desbuquois‑like skeletal dysplasia (short limbs, joint dislocations, craniofacial anomalies, intra‑uterine or neonatal death).

Gene upgraded to green in combination with previous reports of affected individuals and functional reports.; to: 5 affected individuals from 2 unrelated families with autosomal recessive biallelic loss‑of‑function FAM20B variants presenting with lethal Desbuquois‑like skeletal dysplasia (short limbs, joint dislocations, craniofacial anomalies, intra‑uterine or neonatal death).

Gene to remain as AMBER due to the potential overlap in families between the publications.
Proteinuria v0.238 Lucy Spencer Added reviews for gene RCAN1 from panel Mendeliome
Proteinuria v0.237 RCAN1 Lucy Spencer Phenotypes for gene: RCAN1 were changed from FSGS; proteinuria to Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related
Mendeliome v1.4506 RCAN1 Lucy Spencer Phenotypes for gene: RCAN1 were changed from FSGS; proteinuria to Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related
Mendeliome v1.4505 RCAN1 Lucy Spencer edited their review of gene: RCAN1: Added comment: PMID: 33863784 both missense reported in this paper are present in gnomad, 1 with over 100 hets the other with over 1000. this gene is borderline red; Changed rating: AMBER; Changed publications: 33863784; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4505 DISC1 Zornitza Stark Phenotypes for gene: DISC1 were changed from {Schizophrenia 9, susceptibility to} MIM#604906 to {Schizophrenia 9, susceptibility to} MIM#604906; Corpus callosum agenesis, MONDO:0009022, DISC1-related
Mendeliome v1.4504 DISC1 Zornitza Stark Publications for gene: DISC1 were set to 18945897
Mendeliome v1.4503 DISC1 Zornitza Stark Mode of inheritance for gene: DISC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4502 DISC1 Zornitza Stark reviewed gene: DISC1: Rating: RED; Mode of pathogenicity: None; Publications: 21739582; Phenotypes: Corpus callosum agenesis, MONDO:0009022, DISC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.592 DISC1 Zornitza Stark Marked gene: DISC1 as ready
Callosome v0.592 DISC1 Zornitza Stark Gene: disc1 has been classified as Red List (Low Evidence).
Callosome v0.592 DISC1 Zornitza Stark Phenotypes for gene: DISC1 were changed from to Corpus callosum agenesis, MONDO:0009022, DISC1-related
Callosome v0.591 DISC1 Zornitza Stark Publications for gene: DISC1 were set to
Callosome v0.590 DISC1 Zornitza Stark Mode of inheritance for gene: DISC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.590 DISC1 Zornitza Stark Mode of inheritance for gene: DISC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.589 DISC1 Zornitza Stark Classified gene: DISC1 as Red List (low evidence)
Callosome v0.589 DISC1 Zornitza Stark Gene: disc1 has been classified as Red List (Low Evidence).
Callosome v0.588 DISC1 Zornitza Stark reviewed gene: DISC1: Rating: RED; Mode of pathogenicity: None; Publications: 21739582; Phenotypes: Corpus callosum agenesis, MONDO:0009022, DISC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Muscular dystrophy and myopathy_Paediatric v1.121 DST Zornitza Stark Phenotypes for gene: DST were changed from congenital myopathy MONDO:0019952, DST-related to Congenital myopathy 29 with contractures, MIM# 621510; Lethal congenital contracture syndrome 12, MIM# 621511
Muscular dystrophy and myopathy_Paediatric v1.120 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 29 with contractures, MIM# 621510, Lethal congenital contracture syndrome 12, MIM# 621511; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4502 DST Zornitza Stark Phenotypes for gene: DST were changed from Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; congenital myopathy MONDO:0019952, DST-related to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Congenital myopathy 29 with contractures, MIM# 621510; Lethal congenital contracture syndrome 12, MIM# 621511
Mendeliome v1.4501 DST Zornitza Stark edited their review of gene: DST: Added comment: The milder disorder is caused by variants that disrupt the DST-b isoform, while variants that affect both the DST-b and neuronal DST-a isoforms cause lethal congenital contracture syndrome.; Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425, Congenital myopathy 29 with contractures, MIM# 621510, Lethal congenital contracture syndrome 12, MIM# 621511
Arthrogryposis v1.17 DST Zornitza Stark Phenotypes for gene: DST were changed from congenital myopathy MONDO:0019952, DST-related to Congenital myopathy 29 with contractures, MIM# 621510; Lethal congenital contracture syndrome 12, MIM# 621511
Arthrogryposis v1.16 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 29 with contractures, MIM# 621510, Lethal congenital contracture syndrome 12, MIM# 621511; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v1.51 AKT2 Krithika Murali Phenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy MIM#240900 to Hypoinsulinemic hypoglycemia and body hemihypertrophy - MONDO:0009416
Hyperinsulinism v1.51 AKT2 Krithika Murali Publications for gene: AKT2 were set to 21979934; 35602880; 24285683
Hyperinsulinism v1.50 AKT2 Krithika Murali Classified gene: AKT2 as Green List (high evidence)
Hyperinsulinism v1.50 AKT2 Krithika Murali Gene: akt2 has been classified as Green List (High Evidence).
Hyperinsulinism v1.49 AKT2 Krithika Murali reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 24285683, 26003998, 35602880, 38344362; Phenotypes: Hypoinsulinemic hypoglycemia and body hemihypertrophy - MONDO:0009416; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal Dysplasia v0.109 TUFT1 Krithika Murali Publications for gene: TUFT1 were set to 36689522
Palmoplantar Keratoderma and Erythrokeratoderma v0.144 TUFT1 Krithika Murali Publications for gene: TUFT1 were set to 36689522
Ectodermal Dysplasia v0.108 TUFT1 Krithika Murali Classified gene: TUFT1 as Green List (high evidence)
Ectodermal Dysplasia v0.108 TUFT1 Krithika Murali Gene: tuft1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.144 TUFT1 Krithika Murali Marked gene: TUFT1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.144 TUFT1 Krithika Murali Gene: tuft1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.144 TUFT1 Krithika Murali Classified gene: TUFT1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.144 TUFT1 Krithika Murali Gene: tuft1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.27 TUFT1 Krithika Murali Publications for gene: TUFT1 were set to 36689522; 36928819
Palmoplantar Keratoderma and Erythrokeratoderma v0.143 Krithika Murali Added reviews for gene TUFT1 from panel Mendeliome
Epidermolysis bullosa v1.26 TUFT1 Krithika Murali Marked gene: TUFT1 as ready
Epidermolysis bullosa v1.26 TUFT1 Krithika Murali Gene: tuft1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.26 TUFT1 Krithika Murali Classified gene: TUFT1 as Green List (high evidence)
Epidermolysis bullosa v1.26 TUFT1 Krithika Murali Gene: tuft1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.142 Krithika Murali Copied gene TUFT1 from panel Mendeliome
Palmoplantar Keratoderma and Erythrokeratoderma v0.142 TUFT1 Krithika Murali gene: TUFT1 was added
gene: TUFT1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFT1 were set to 36689522
Phenotypes for gene: TUFT1 were set to Woolly hair-skin fragility syndrome, MIM# 620415
Mendeliome v1.4501 TUFT1 Krithika Murali Publications for gene: TUFT1 were set to 36689522
Epidermolysis bullosa v1.25 Krithika Murali Added reviews for gene TUFT1 from panel Mendeliome
Mendeliome v1.4500 TUFT1 Krithika Murali Classified gene: TUFT1 as Green List (high evidence)
Mendeliome v1.4500 TUFT1 Krithika Murali Gene: tuft1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.107 Krithika Murali Added reviews for gene TUFT1 from panel Mendeliome
Mendeliome v1.4499 TUFT1 Krithika Murali reviewed gene: TUFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37716648, 36689526, 36689522; Phenotypes: Woolly hair-skin fragility syndrome - MIM#620415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.689 RBFOX3 Lucy Spencer Classified gene: RBFOX3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v1.689 RBFOX3 Lucy Spencer Gene: rbfox3 has been classified as Red List (Low Evidence).
Speech apraxia v1.28 Lucy Spencer Added reviews for gene RBFOX3 from panel Mendeliome
Genetic Epilepsy v1.382 Lucy Spencer Added reviews for gene RBFOX3 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.688 Lucy Spencer Copied gene RBFOX3 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.688 RBFOX3 Lucy Spencer gene: RBFOX3 was added
gene: RBFOX3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908; 40011789
Phenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related
Mendeliome v1.4499 RBFOX3 Lucy Spencer Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908
Mendeliome v1.4498 RBFOX3 Lucy Spencer reviewed gene: RBFOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 40011789, 36117209; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v1.186 PRPH Lucy Spencer Mode of inheritance for gene: PRPH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.185 PRPH Lucy Spencer Phenotypes for gene: PRPH were changed from {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related to Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related
Motor Neurone Disease v1.44 Lucy Spencer Added reviews for gene PRPH from panel Mendeliome
Hereditary Neuropathy v1.184 Lucy Spencer Copied gene PRPH from panel Mendeliome
Hereditary Neuropathy v1.184 PRPH Lucy Spencer gene: PRPH was added
gene: PRPH was added to Hereditary Neuropathy. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRPH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRPH were set to 20363051; 15322088; 15446584; 30992453; 32638105
Phenotypes for gene: PRPH were set to {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related
Mendeliome v1.4498 PRPH Lucy Spencer Publications for gene: PRPH were set to 20363051; 15322088; 15446584
Mendeliome v1.4497 PRPH Lucy Spencer Phenotypes for gene: PRPH were changed from {Amyotrophic lateral sclerosis, susceptibility to}, 105400 to {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400; Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related
Retinitis pigmentosa v0.242 PRPF6 Lucy Spencer Publications for gene: PRPF6 were set to 21549338; 32335390
Retinitis pigmentosa v0.241 PRPF6 Lucy Spencer Classified gene: PRPF6 as Green List (high evidence)
Retinitis pigmentosa v0.241 PRPF6 Lucy Spencer Gene: prpf6 has been classified as Green List (High Evidence).
Mendeliome v1.4496 PRPH Lucy Spencer reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 30992453, 32638105; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400, Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v1.183 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267; 12244316
Hereditary Neuropathy v1.182 TDP1 Zornitza Stark commented on gene: TDP1: Additional family reported in PMID 39576382 with different homozygous missense, c.1432C>T (p.His478Tyr). The affected individual had severe hypotonia, ataxia, distal axonal neuropathy, seizures at 9‑10 months, kyphoscoliosis, hearing/vision loss and moderate cognitive impairment. No other supportive data.
Hereditary Neuropathy v1.182 TDP1 Zornitza Stark edited their review of gene: TDP1: Changed publications: 31182267, 12244316, 39576382
Ataxia v1.191 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Ataxia v1.191 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Ataxia v1.191 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267; 12244316
Ataxia v1.190 TDP1 Zornitza Stark edited their review of gene: TDP1: Added comment: Additional family reported in PMID 39576382 with different homozygous missense, c.1432C>T (p.His478Tyr). The affected individual had severe hypotonia, ataxia, distal axonal neuropathy, seizures at 9‑10 months, kyphoscoliosis, hearing/vision loss and moderate cognitive impairment. No other supportive data.; Changed publications: 31182267, 12244316, 39576382
Mendeliome v1.4496 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267; 12244316
Retinitis pigmentosa v0.240 Lucy Spencer Added reviews for gene PRPF6 from panel Mendeliome
Mendeliome v1.4495 PRPF6 Lucy Spencer Publications for gene: PRPF6 were set to 21549338; 32335390
Mendeliome v1.4494 PRPF6 Lucy Spencer Classified gene: PRPF6 as Green List (high evidence)
Mendeliome v1.4494 PRPF6 Lucy Spencer Gene: prpf6 has been classified as Green List (High Evidence).
Mendeliome v1.4493 PRPF6 Lucy Spencer reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549338, 32335390, 36012314, 41584402; Phenotypes: Retinitis pigmentosa 60 MIM#613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4493 TDP1 Zornitza Stark changed review comment from: Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait.

Three families reported, however all from Middle East and had same homozygous missense variant.; to: Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait.

Three families reported, however all from Middle East and had same homozygous missense variant p.H493R.
Mendeliome v1.4493 TDP1 Zornitza Stark edited their review of gene: TDP1: Added comment: Additional family reported in PMID 39576382 with different homozygous missense, c.1432C>T (p.His478Tyr). The affected individual had severe hypotonia, ataxia, distal axonal neuropathy, seizures at 9‑10 months, kyphoscoliosis, hearing/vision loss and moderate cognitive impairment. No other supportive data.; Changed publications: 31182267, 12244316, 39576382
Cardiomyopathy_Paediatric v0.223 STX4 Zornitza Stark Marked gene: STX4 as ready
Cardiomyopathy_Paediatric v0.223 STX4 Zornitza Stark Gene: stx4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4493 STX4 Zornitza Stark Publications for gene: STX4 were set to 36355422
Mendeliome v1.4492 STX4 Zornitza Stark edited their review of gene: STX4: Added comment: PMID 35599850: two unrelated families were identified with biallelic STX4 variants: Family 1 with a homozygous missense c.718C>T (p.Arg240Trp) and Family 2 compound heterozygous c.89_90delGC (p.Gly30Aspfs*28) and c.232+4A>C (splice‑site). Affected individuals present with early‑onset dilated cardiomyopathy, ventricular arrhythmia, sensorineural hearing loss, global developmental delay, hypotonia and multiple congenital anomalies; the second individual died perinatally. CRISPR‑generated stx4‑null zebrafish recapitulate cardiac dysfunction, bradycardia, reduced vesicle docking and altered Ca²⁺ handling. Transgenic rescue with wild‑type stx4 restores phenotype, whereas the R241W (human R240W) allele is hypomorphic and only partially rescues, supporting a loss‑of‑function mechanism. Pharmacologic L‑type Ca²⁺ channel modulation ameliorated bradycardia, further underscoring functional loss of STX4.

Unclear if this is a separate disease association or whether it will be part of a spectrum with the previous isolated deafness reports.; Changed rating: AMBER; Changed publications: 36355422, 35599850; Changed phenotypes: Deafness, autosomal recessive 123, MIM# 620745; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.223 Zornitza Stark Copied gene STX4 from panel Deafness_IsolatedAndComplex
Cardiomyopathy_Paediatric v0.223 STX4 Zornitza Stark gene: STX4 was added
gene: STX4 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: STX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX4 were set to 36355422; 35599850
Phenotypes for gene: STX4 were set to Deafness, autosomal recessive 123, MIM# 620745
Deafness_IsolatedAndComplex v1.332 STX4 Zornitza Stark Publications for gene: STX4 were set to 36355422
Deafness_IsolatedAndComplex v1.331 STX4 Zornitza Stark edited their review of gene: STX4: Added comment: PMID 35599850: two unrelated families were identified with biallelic STX4 variants: Family 1 with a homozygous missense c.718C>T (p.Arg240Trp) and Family 2 compound heterozygous c.89_90delGC (p.Gly30Aspfs*28) and c.232+4A>C (splice‑site). Affected individuals present with early‑onset dilated cardiomyopathy, ventricular arrhythmia, sensorineural hearing loss, global developmental delay, hypotonia and multiple congenital anomalies; the second individual died perinatally. CRISPR‑generated stx4‑null zebrafish recapitulate cardiac dysfunction, bradycardia, reduced vesicle docking and altered Ca²⁺ handling. Transgenic rescue with wild‑type stx4 restores phenotype, whereas the R241W (human R240W) allele is hypomorphic and only partially rescues, supporting a loss‑of‑function mechanism. Pharmacologic L‑type Ca²⁺ channel modulation ameliorated bradycardia, further underscoring functional loss of STX4.

Unclear if this is a separate disease association or whether it will be part of a spectrum with the previous isolated deafness reports.; Changed publications: 36355422, 35599850
Mendeliome v1.4492 SFTPA1 Lucy Spencer reviewed gene: SFTPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31601679; Phenotypes: Interstitial lung disease 1 MIM#619611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.120 Sarah Milton Added reviews for gene TDRD6 from panel Mendeliome
Mendeliome v1.4492 TDRD6 Sarah Milton reviewed gene: TDRD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 39764564, 39331689, 38341271; Phenotypes: Infertility disorder, MONDO:0005047, TDRD6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.119 Sarah Milton Added reviews for gene TDRD12 from panel Mendeliome
Mendeliome v1.4492 TDRD12 Sarah Milton reviewed gene: TDRD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 40750267, 39122675; Phenotypes: Spermatogenic failure, MONDO:0004983, TDRD12-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.146 SREBF2 Zornitza Stark Marked gene: SREBF2 as ready
Hereditary Spastic Paraplegia v1.146 SREBF2 Zornitza Stark Gene: srebf2 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.146 SREBF2 Zornitza Stark Phenotypes for gene: SREBF2 were changed from Neurocutaneous syndrome, MONDO:0042983, SREBF2-related; Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related to Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related
Hereditary Spastic Paraplegia v1.145 SREBF2 Zornitza Stark Publications for gene: SREBF2 were set to 38847193; 39814172
Hereditary Spastic Paraplegia v1.144 SREBF2 Zornitza Stark Mode of inheritance for gene: SREBF2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.143 SREBF2 Zornitza Stark Deleted their comment
Hereditary Spastic Paraplegia v1.143 SREBF2 Zornitza Stark edited their review of gene: SREBF2: Changed publications: 39814172; Changed phenotypes: Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.143 Zornitza Stark Copied gene SREBF2 from panel Mendeliome
Hereditary Spastic Paraplegia v1.143 SREBF2 Zornitza Stark gene: SREBF2 was added
gene: SREBF2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SREBF2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SREBF2 were set to 38847193; 39814172
Phenotypes for gene: SREBF2 were set to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related; Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related
Mendeliome v1.4492 SREBF2 Zornitza Stark Phenotypes for gene: SREBF2 were changed from Neurocutaneous syndrome, MONDO:0042983, SREBF2-related to Neurocutaneous syndrome, MONDO:0042983, SREBF2-related; Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related
Mendeliome v1.4491 SREBF2 Zornitza Stark Publications for gene: SREBF2 were set to 38847193
Mendeliome v1.4490 SREBF2 Zornitza Stark Mode of inheritance for gene: SREBF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4489 SREBF2 Zornitza Stark edited their review of gene: SREBF2: Added comment: PMID 39814172: reports three homozygous missense variants (p.L604W, p.T984A, p.S517F) in three unrelated families (two consanguineous families). Detailed clinical descriptions are provided for two families: Family 1 (two affected siblings, onset 39 y and 25 y, progressive spastic gait, pyramidal signs, no cognitive or peripheral neuropathy) and Family 2 (single female, onset 24 y, spastic gait, internal foot deformity, normal cognition). All carriers are asymptomatic. Functional assays in patient‑derived fibroblasts show increased mature SREBP2, cholesterol accumulation, and autophagosome/lysosome enlargement. Overexpression of the nuclear SREBP2 in Drosophila recapitulates locomotor deficits. The authors conclude that biallelic SREBF2 missense variants cause an autosomal recessive hereditary spastic paraplegia through gain‑of‑function overactivation of SREBP2.; Changed publications: 38847193, 39814172; Changed phenotypes: Neurocutaneous syndrome, MONDO:0042983, SREBF2-related, Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.630 SEC23A Zornitza Stark Classified gene: SEC23A as Amber List (moderate evidence)
Cataract v0.630 SEC23A Zornitza Stark Gene: sec23a has been classified as Amber List (Moderate Evidence).
Cataract v0.629 SEC23A Zornitza Stark edited their review of gene: SEC23A: Added comment: Two families only with each MOI.; Changed rating: AMBER; Changed phenotypes: Craniolenticulosutural dysplasia, MIM# 607812
Mendeliome v1.4489 SEC23A Zornitza Stark Publications for gene: SEC23A were set to 16980979; 21039434; 16980978; 27148587
Mendeliome v1.4488 SEC23A Zornitza Stark Mode of inheritance for gene: SEC23A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4487 SEC23A Zornitza Stark edited their review of gene: SEC23A: Changed rating: AMBER
Mendeliome v1.4487 SEC23A Zornitza Stark changed review comment from: Four families (two AR, two de novo AD) with consistent craniofacial, skeletal and ophthalmologic features. Functional data from zebrafish knock‑down.; to: Four families (two AR, two AD) with consistent craniofacial, skeletal and ophthalmologic features. Functional data from zebrafish knock‑down.
Mendeliome v1.4487 SEC23A Zornitza Stark reviewed gene: SEC23A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38275611, 37828500, 34580982; Phenotypes: Craniolenticulosutural dysplasia, MIM# 607812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.404 REC8 Zornitza Stark Phenotypes for gene: REC8 were changed from Primary ovarian insufficiency to Infertility disorder, MONDO:0005047, REC8-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.403 REC8 Zornitza Stark reviewed gene: REC8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Infertility disorder, MONDO:0005047, REC8-related; Mode of inheritance: None
Mendeliome v1.4487 REC8 Zornitza Stark Classified gene: REC8 as Amber List (moderate evidence)
Mendeliome v1.4487 REC8 Zornitza Stark Gene: rec8 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4486 TUB Krithika Murali Publications for gene: TUB were set to 24375934; 28852204
Mendeliome v1.4485 TUB Krithika Murali Phenotypes for gene: TUB were changed from Retinal dystrophy and obesity, MIM# 616188 to inherited retinal dystrophy - MONDO:0019118, TUB-related
Mendeliome v1.4484 TUB Krithika Murali Classified gene: TUB as Green List (high evidence)
Mendeliome v1.4484 TUB Krithika Murali Gene: tub has been classified as Green List (High Evidence).
Mendeliome v1.4483 TUB Krithika Murali changed review comment from: Additional unrelated individuals identified

PMID: 36650547 Xu et al 2023 report a homozygous variant (NM_003320.4, c.1379A>G, p.Asn460Ser) in an individual of Chinese ancestry with retinitis pigmentosa. No obesity

PMID: 36498982 Ziccardi et al 2022 report a homozygous splice variant in a 35 yo M of European descent with retinal dystrophy and elevated BMI.; to: Additional unrelated individuals identified

PMID: 36650547 Xu et al 2023 report a homozygous variant (NM_003320.4, c.1379A>G, p.Asn460Ser) in an individual of Chinese ancestry with retinitis pigmentosa. No obesity

PMID: 36498982 Ziccardi et al 2022 report a homozygous splice variant in a 35 yo M of European descent with retinal dystrophy and elevated BMI.
Mendeliome v1.4483 TUB Krithika Murali reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36498982, 32956375; Phenotypes: Retinal dystrophy and obesity - MIM#616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.23 Sarah Milton Copied gene SVIL from panel Mendeliome
Hypertrophic cardiomyopathy v1.23 SVIL Sarah Milton gene: SVIL was added
gene: SVIL was added to Hypertrophic cardiomyopathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVIL were set to 32779703
Phenotypes for gene: SVIL were set to Myofibrillar myopathy, MIM#619040
Penetrance for gene: SVIL were set to unknown
Mendeliome v1.4483 SVIL Sarah Milton reviewed gene: SVIL: Rating: AMBER; Mode of pathogenicity: None; Publications: 39554508, 36778260, 32779703; Phenotypes: Hypertrophic cardiomyopathy MONDO:0005045, myofibrillar myopathy 10, MONDO:0033620; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4483 ITPR3 Lucy Spencer reviewed gene: ITPR3: Rating: RED; Mode of pathogenicity: None; Publications: 36302985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.145 ITPR3 Lucy Spencer reviewed gene: ITPR3: Rating: RED; Mode of pathogenicity: None; Publications: 36302985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4483 OXGR1 Rylee Peters reviewed gene: OXGR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36571463; Phenotypes: Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.687 TRAPPC2L Krithika Murali Phenotypes for gene: TRAPPC2L were changed from Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related to Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related
Intellectual disability syndromic and non-syndromic v1.686 TRAPPC2L Krithika Murali Phenotypes for gene: TRAPPC2L were changed from Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 to Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related
Intellectual disability syndromic and non-syndromic v1.686 TRAPPC2L Krithika Murali Publications for gene: TRAPPC2L were set to 36849228; 32843486; 30120216
Intellectual disability syndromic and non-syndromic v1.685 TRAPPC2L Krithika Murali Publications for gene: TRAPPC2L were set to 30120216; 32843486
Intellectual disability syndromic and non-syndromic v1.685 TRAPPC2L Krithika Murali Classified gene: TRAPPC2L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.685 TRAPPC2L Krithika Murali Gene: trappc2l has been classified as Green List (High Evidence).
Mendeliome v1.4483 TRAPPC2L Krithika Murali Phenotypes for gene: TRAPPC2L were changed from Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 to Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related
Mendeliome v1.4482 TRAPPC2L Krithika Murali Publications for gene: TRAPPC2L were set to 30120216; 32843486
Intellectual disability syndromic and non-syndromic v1.684 Krithika Murali Added reviews for gene TRAPPC2L from panel Mendeliome
Mendeliome v1.4481 TRAPPC2L Krithika Murali Classified gene: TRAPPC2L as Green List (high evidence)
Mendeliome v1.4481 TRAPPC2L Krithika Murali Gene: trappc2l has been classified as Green List (High Evidence).
Mendeliome v1.4480 TRAPPC2L Krithika Murali reviewed gene: TRAPPC2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 36849228, 32843486, 30120216; Phenotypes: Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4480 REC8 Zornitza Stark changed review comment from: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with homozygous missense.; to: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with het missense with relatively high pop frequency, discounted.
Mendeliome v1.4480 REC8 Zornitza Stark edited their review of gene: REC8: Changed rating: AMBER
Infertility and Recurrent Pregnancy Loss v1.118 REC8 Zornitza Stark Classified gene: REC8 as Amber List (moderate evidence)
Infertility and Recurrent Pregnancy Loss v1.118 REC8 Zornitza Stark Gene: rec8 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.117 REC8 Zornitza Stark edited their review of gene: REC8: Changed rating: AMBER
Infertility and Recurrent Pregnancy Loss v1.117 REC8 Zornitza Stark changed review comment from: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with homozygous missense.; to: PMID 35172124 reports homozygous frameshift deletion presenting with non‑obstructive azoospermia and meiotic arrest in a single affected individual. Further individual in PMID 31479588, but with heterozygous missense with high pop frequency.
Mendeliome v1.4480 REC8 Zornitza Stark Phenotypes for gene: REC8 were changed from Primary ovarian insufficiency to Infertility disorder, MONDO:0005047, REC8-related
Mendeliome v1.4479 REC8 Zornitza Stark Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Mendeliome v1.4478 REC8 Zornitza Stark Classified gene: REC8 as Green List (high evidence)
Mendeliome v1.4478 REC8 Zornitza Stark Gene: rec8 has been classified as Green List (High Evidence).
Mendeliome v1.4477 REC8 Zornitza Stark reviewed gene: REC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35172124, 31479588; Phenotypes: Infertility disorder, MONDO:0005047, REC8-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.117 REC8 Zornitza Stark Marked gene: REC8 as ready
Infertility and Recurrent Pregnancy Loss v1.117 REC8 Zornitza Stark Gene: rec8 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.117 REC8 Zornitza Stark Phenotypes for gene: REC8 were changed from Primary ovarian insufficiency to Infertility disorder, MONDO:0005047, REC8-related
Infertility and Recurrent Pregnancy Loss v1.116 REC8 Zornitza Stark Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Infertility and Recurrent Pregnancy Loss v1.115 REC8 Zornitza Stark Classified gene: REC8 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v1.115 REC8 Zornitza Stark Gene: rec8 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.114 REC8 Zornitza Stark reviewed gene: REC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35172124, 31479588; Phenotypes: Infertility disorder, MONDO:0005047, REC8-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.55 Sarah Milton Copied Region FOXF1 upstream regulatory region from panel Mendeliome
Pulmonary Arterial Hypertension v1.55 FOXF1 upstream regulatory region Sarah Milton Region: FOXF1 upstream regulatory region was added
Region: FOXF1 upstream regulatory region was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for Region: FOXF1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: FOXF1 upstream regulatory region were set to PMID: 27822317, 27071622, 23034409, 24842713
Phenotypes for Region: FOXF1 upstream regulatory region were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Mendeliome v1.4477 FOXF1 upstream regulatory region Sarah Milton Variant type for FOXF1 upstream regulatory region was changed from small to cnv_loss.
Mendeliome v1.4476 FOXF1 upstream regulatory region Sarah Milton Region: FOXF1 upstream regulatory region was added
Region: FOXF1 upstream regulatory region was added to Mendeliome. Sources: Literature
Mode of inheritance for Region: FOXF1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: FOXF1 upstream regulatory region were set to PMID: 27822317, 27071622, 23034409, 24842713
Phenotypes for Region: FOXF1 upstream regulatory region were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Review for Region: FOXF1 upstream regulatory region was set to GREEN
Added comment: FOXF1 is a transcription factor involved in maintaining endothelial barrier through activation of S1P/S1PR1 signalling for integrity of adherens junctions.

An approximately 60kb enhancer 270kb upstream of the FOXF1 gene has been identified with copy number changes in this region seen in over 10 affected individuals with biopsy confirmed alveolar capillary dysplasia with misalignment of pulmonary veins.
Interestingly a large number of the deletions identified were de novo on the maternal allele.

Deletion size ranged between 104kb to 2625kb, coordinates from this entry are from a minimal overlapping region.

The enhancer region has binding motifs for a number of transcription factors, as well as this there is a non coding RNA (LINC01081) within the region that is thought to play a role with regulation of FOXF1 transcription. Supportive functional studies with RNAi-mediated knock-down of LINC01081 in normal fetal lung fibroblasts showed that this lncRNA positively regulates FOXF1 transcript level.
Sources: Literature
Mendeliome v1.4475 SLC13A1 Lucy Spencer Publications for gene: SLC13A1 were set to 36175384
Mendeliome v1.4474 RHOXF1 Lucy Spencer reviewed gene: RHOXF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28171600; Phenotypes: Spermatogenic failure, MONDO:0004983, RHOXF1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuria v0.236 Lucy Spencer Added reviews for gene PRDM15 from panel Mendeliome
Microcephaly v1.417 Lucy Spencer Copied gene PRDM15 from panel Mendeliome
Microcephaly v1.417 PRDM15 Lucy Spencer gene: PRDM15 was added
gene: PRDM15 was added to Microcephaly. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Galloway-Mowat syndrome MONDO:0009627, PRDM15-related
Holoprosencephaly and septo-optic dysplasia v1.24 Lucy Spencer Added reviews for gene PRDM15 from panel Mendeliome
Fetal anomalies v1.542 Lucy Spencer Added reviews for gene PRDM15 from panel Mendeliome
Anophthalmia_Microphthalmia_Coloboma v1.57 Lucy Spencer Copied gene PRDM15 from panel Mendeliome
Anophthalmia_Microphthalmia_Coloboma v1.57 PRDM15 Lucy Spencer gene: PRDM15 was added
gene: PRDM15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Galloway-Mowat syndrome MONDO:0009627, PRDM15-related
Mendeliome v1.4474 PRDM15 Lucy Spencer Phenotypes for gene: PRDM15 were changed from Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related; Galloway-Mowat syndrome MONDO:0009627, PRDM15-related to Galloway-Mowat syndrome MONDO:0009627, PRDM15-related
Mendeliome v1.4473 PRDM15 Lucy Spencer reviewed gene: PRDM15: Rating: GREEN; Mode of pathogenicity: None; Publications: 31950080, 33593823; Phenotypes: Galloway-Mowat syndrome MONDO:0009627, PRDM15-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4473 PRDM15 Lucy Spencer Deleted their review
Mendeliome v1.4473 PRDM15 Lucy Spencer changed review comment from: PMID: 33593823- Reports the same families as PMID:31950080. 4 families homozygous for C844Y who had syndromic SRNS which this paper described as Galloway-Mowat syndrome, and another 2 homozygous for M154K or E190K who had isolated SRNS. Paper suggests the more severe phenotype associated with C844Y is because it affects a Cys residue in a zinc finger domain and was shown to destabilize the protein while also interfering with transcriptional activity while the other 2 missense in the SET domain decrease protein stability but do not affect transcriptional activity. In knock-out cell lines pronephric development was disrupted and could be rescued by WT but not by any of the 3 patient missense variants.

Borderline amber/green; to: PMID: 33593823- Reports the same families as PMID:31950080. 4 families homozygous for C844Y who had syndromic SRNS which this paper described as Galloway-Mowat syndrome, and another 2 homozygous for M154K or E190K who had isolated SRNS. Paper suggests the more severe phenotype associated with C844Y is because it affects a Cys residue in a zinc finger domain and was shown to destabilize the protein while also interfering with transcriptional activity while the other 2 missense in the SET domain decrease protein stability but do not affect transcriptional activity. In knock-out cell lines pronephric development was disrupted and could be rescued by WT but not by any of the 3 patient missense variants.

Borderline amber/green, likely 1 spectrum of disease
Mendeliome v1.4473 PRDM15 Lucy Spencer Phenotypes for gene: PRDM15 were changed from Multiple congenital anomalies MONDO:0019042, PRDM15-related to Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related; Galloway-Mowat syndrome MONDO:0009627, PRDM15-related
Mendeliome v1.4472 PRDM15 Lucy Spencer Classified gene: PRDM15 as Green List (high evidence)
Mendeliome v1.4472 PRDM15 Lucy Spencer Gene: prdm15 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.381 ATP11A Lucy Spencer Publications for gene: ATP11A were set to 40185629
Genetic Epilepsy v1.380 ATP11A Lucy Spencer Phenotypes for gene: ATP11A were changed from Focal Epilepsy MONDO:0005384 to Focal epilepsy MONDO:0005384, ATP11A; Leukodystrophy, hypomyelinating, 24 MIM#619851
Genetic Epilepsy v1.379 ATP11A Lucy Spencer Classified gene: ATP11A as Green List (high evidence)
Genetic Epilepsy v1.379 ATP11A Lucy Spencer Gene: atp11a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.378 ATP11A Lucy Spencer reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34403372, 39432785, 40185629; Phenotypes: Focal epilepsy MONDO:0005384, ATP11A, Leukodystrophy, hypomyelinating, 24 MIM#619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4471 PRDM15 Lucy Spencer reviewed gene: PRDM15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33593823, 31950080; Phenotypes: Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related, Galloway-Mowat syndrome MONDO:0009627, PRDM15-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.683 PPP1R15B Lucy Spencer Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355
Intellectual disability syndromic and non-syndromic v1.682 PPP1R15B Lucy Spencer Classified gene: PPP1R15B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.682 PPP1R15B Lucy Spencer Gene: ppp1r15b has been classified as Green List (High Evidence).
Microcephaly v1.416 PPP1R15B Lucy Spencer Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355
Microcephaly v1.415 PPP1R15B Lucy Spencer Classified gene: PPP1R15B as Green List (high evidence)
Microcephaly v1.415 PPP1R15B Lucy Spencer Gene: ppp1r15b has been classified as Green List (High Evidence).
Microcephaly v1.414 Lucy Spencer Added reviews for gene PPP1R15B from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.681 Lucy Spencer Added reviews for gene PPP1R15B from panel Mendeliome
Mendeliome v1.4471 PPP1R15B Lucy Spencer Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355
Mendeliome v1.4470 PPP1R15B Lucy Spencer Classified gene: PPP1R15B as Green List (high evidence)
Mendeliome v1.4470 PPP1R15B Lucy Spencer Gene: ppp1r15b has been classified as Green List (High Evidence).
Mendeliome v1.4469 PPP1R15B Lucy Spencer reviewed gene: PPP1R15B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38159565, 26159176, 26307080, 27640355, 40568171; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM#616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v1.32 TRAF3IP2 Krithika Murali Publications for gene: TRAF3IP2 were set to 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246
Defects of intrinsic and innate immunity v1.32 TRAF3IP2 Krithika Murali Classified gene: TRAF3IP2 as Green List (high evidence)
Defects of intrinsic and innate immunity v1.32 TRAF3IP2 Krithika Murali Gene: traf3ip2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.31 TRAF3IP2 Krithika Murali Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351
Defects of intrinsic and innate immunity v1.31 TRAF3IP2 Krithika Murali Classified gene: TRAF3IP2 as Green List (high evidence)
Defects of intrinsic and innate immunity v1.31 TRAF3IP2 Krithika Murali Gene: traf3ip2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.31 Krithika Murali Added reviews for gene TRAF3IP2 from panel Mendeliome
Defects of intrinsic and innate immunity v1.30 Krithika Murali Added reviews for gene TRAF3IP2 from panel Mendeliome
Disorders of immune dysregulation v1.38 Krithika Murali Copied gene TRAF3IP2 from panel Mendeliome
Disorders of immune dysregulation v1.38 TRAF3IP2 Krithika Murali gene: TRAF3IP2 was added
gene: TRAF3IP2 was added to Disorders of immune dysregulation. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351; 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246
Phenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8, MIM# 615527
Disorders of immune dysregulation v1.38 Krithika Murali Copied gene TRAF3IP2 from panel Mendeliome
Disorders of immune dysregulation v1.38 TRAF3IP2 Krithika Murali gene: TRAF3IP2 was added
gene: TRAF3IP2 was added to Disorders of immune dysregulation. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351; 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246
Phenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8, MIM# 615527
Mendeliome v1.4469 TRAF3IP2 Krithika Murali Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351
Mendeliome v1.4468 TRAF3IP2 Krithika Murali Classified gene: TRAF3IP2 as Green List (high evidence)
Mendeliome v1.4468 TRAF3IP2 Krithika Murali Gene: traf3ip2 has been classified as Green List (High Evidence).
Mendeliome v1.4467 TRAF3IP2 Krithika Murali reviewed gene: TRAF3IP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34289170, 33825088, 33359359, 32350852, 31292894, 30237576, 28640246; Phenotypes: candidiasis, familial, 8, MONDO:0014230, ?Candidiasis, familial, 8 - MIM#615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.145 TRAC Krithika Murali Phenotypes for gene: TRAC were changed from Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387; TCR-alpha-beta-positive T-cell deficiency, MONDO:0014160
Combined Immunodeficiency v1.144 TRAC Krithika Murali Publications for gene: TRAC were set to 21206088
Combined Immunodeficiency v1.144 TRAC Krithika Murali Classified gene: TRAC as Green List (high evidence)
Combined Immunodeficiency v1.144 TRAC Krithika Murali Gene: trac has been classified as Green List (High Evidence).
Mendeliome v1.4467 TRAC Krithika Murali Phenotypes for gene: TRAC were changed from Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387; TCR-alpha-beta-positive T-cell deficiency, MONDO:0014160
Mendeliome v1.4466 TRAC Krithika Murali Publications for gene: TRAC were set to 21206088
Mendeliome v1.4465 TRAC Krithika Murali Classified gene: TRAC as Green List (high evidence)
Mendeliome v1.4465 TRAC Krithika Murali Gene: trac has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.143 Krithika Murali Added reviews for gene TRAC from panel Mendeliome
Mendeliome v1.4464 TRAC Krithika Murali reviewed gene: TRAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 41103553, 33909184; Phenotypes: TCR-alpha-beta-positive T-cell deficiency, MONDO:0014160, Immunodeficiency 7, TCR-alpha/beta deficient 615387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4464 TPCN2 Krithika Murali Phenotypes for gene: TPCN2 were changed from [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267 to albinism, TPCN2-related - MONDO:0043209
Ocular and Oculocutaneous Albinism v1.15 TPCN2 Krithika Murali Phenotypes for gene: TPCN2 were changed from Hypopigmentation of the skin MONDO:0019290 to albinism, TPCN2-related - MONDO:0043209
Ocular and Oculocutaneous Albinism v1.14 TPCN2 Krithika Murali Publications for gene: TPCN2 were set to 36641477; 3980994
Ocular and Oculocutaneous Albinism v1.14 TPCN2 Krithika Murali Publications for gene: TPCN2 were set to 36641477
Ocular and Oculocutaneous Albinism v1.13 Krithika Murali Added reviews for gene TPCN2 from panel Mendeliome
Mendeliome v1.4463 TPCN2 Krithika Murali reviewed gene: TPCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 39809949, 36641477; Phenotypes: albinism, MONDO:0043209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.4463 EXOSC10 Sangavi Sivagnanasundram reviewed gene: EXOSC10: Rating: AMBER; Mode of pathogenicity: None; Publications: 41609100; Phenotypes: premature ovarian insufficiency MONDO:0019852; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v1.43 ERBB4 Sangavi Sivagnanasundram edited their review of gene: ERBB4: Changed publications: 31432357, 32638105, 33414559, 35873773, 38291418; Changed phenotypes: amyotrophic lateral sclerosis type 19, MONDO:0014223
Motor Neurone Disease v1.43 ERBB4 Sangavi Sivagnanasundram changed review comment from: Update to GDA and publications

GREEN association for ALS - 6 other unrelated individuals reported with ALS and heterozygous variants in ERBB4 (PMID: 31432357, 32638105, 33414559, 35873773, 38291418)

RED for Hirschsprung - only one affected individual identified (PMID: 29483666)
RED for idiopathic hypogonadotropic hypogonadism (IHH) - only one affected individual identified (PMID: 36123965); to: Update to GDA and publications

GREEN association for ALS - 6 other unrelated individuals reported with ALS and heterozygous variants in ERBB4 (PMID: 31432357, 32638105, 33414559, 35873773, 38291418)
Motor Neurone Disease v1.43 Sangavi Sivagnanasundram Added reviews for gene ERBB4 from panel Mendeliome
Mendeliome v1.4463 ERBB4 Sangavi Sivagnanasundram reviewed gene: ERBB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 38291418, 36123965, 35873773, 33414559, 32638105, 31432357, 29483666; Phenotypes: amyotrophic lateral sclerosis type 19, MONDO:0014223, Hirschsprung disease MONDO:0018309, idiopathic hypogonadotropic hypogonadism MONDO:0018555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.541 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Fetal anomalies v1.540 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.417 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Skeletal dysplasia v0.416 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v1.30 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Severe Combined Immunodeficiency v1.29 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4463 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230,DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Mendeliome v1.4462 DMRT2 Zornitza Stark edited their review of gene: DMRT2: Changed rating: GREEN
Mendeliome v1.4462 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.529 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Congenital Heart Defect v0.528 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.201 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.200 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.246 DMRT2 Zornitza Stark Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523
Skeletal Dysplasia_Fetal v0.245 DMRT2 Zornitza Stark reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.606 ATP2B3 Bryony Thompson Classified gene: ATP2B3 as Green List (high evidence)
Regression v0.606 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Green List (High Evidence).
Ataxia v1.190 ATP2B3 Bryony Thompson Publications for gene: ATP2B3 were set to
Ataxia v1.189 ATP2B3 Bryony Thompson Classified gene: ATP2B3 as Green List (high evidence)
Ataxia v1.189 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Green List (High Evidence).
Ataxia v1.188 Bryony Thompson Added reviews for gene ATP2B3 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.680 ATP2B3 Bryony Thompson Classified gene: ATP2B3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.680 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.679 ATP2B3 Bryony Thompson edited their review of gene: ATP2B3: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v1.679 ATP2B3 Bryony Thompson changed review comment from: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).; to: At least 3 cases reported with ID/developmental delay without other variants detected
PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).
Intellectual disability syndromic and non-syndromic v1.679 ATP2B3 Bryony Thompson edited their review of gene: ATP2B3: Changed rating: AMBER
Ataxia v1.187 ATP2B3 Bryony Thompson Deleted their review
Regression v0.605 Bryony Thompson Added reviews for gene ATP2B3 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.679 Bryony Thompson Added reviews for gene ATP2B3 from panel Mendeliome
Ataxia v1.186 ATP2B3 Bryony Thompson Deleted their comment
Ataxia v1.187 Bryony Thompson Added reviews for gene ATP2B3 from panel Mendeliome
Mendeliome v1.4462 ATP2B3 Bryony Thompson changed review comment from: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).; to: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).
Mendeliome v1.4462 ATP2B3 Bryony Thompson Deleted their comment
Mendeliome v1.4462 ATP2B3 Bryony Thompson Classified gene: ATP2B3 as Green List (high evidence)
Mendeliome v1.4462 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Green List (High Evidence).
Mendeliome v1.4461 ATP2B3 Bryony Thompson Publications for gene: ATP2B3 were set to 22912398; 27653636; 27632770
Mendeliome v1.4460 ATP2B3 Bryony Thompson edited their review of gene: ATP2B3: Added comment: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).; Changed rating: GREEN; Changed publications: 37821930, 36207321, 31680123, 28807751, 28720891, 27653636, 25953895; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, Syndromic disease, MONDO:0002254, X-linked progressive cerebellar ataxia, MONDO:0010547; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4460 ARPC3 Bryony Thompson Publications for gene: ARPC3 were set to 36928819; 26166300
Pulmonary Arterial Hypertension v1.54 AQP1 Bryony Thompson Classified gene: AQP1 as Green List (high evidence)
Pulmonary Arterial Hypertension v1.54 AQP1 Bryony Thompson Gene: aqp1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.53 Bryony Thompson Added reviews for gene AQP1 from panel Mendeliome
Mendeliome v1.4459 AQP1 Bryony Thompson Classified gene: AQP1 as Green List (high evidence)
Mendeliome v1.4459 AQP1 Bryony Thompson Gene: aqp1 has been classified as Green List (High Evidence).
Mendeliome v1.4458 AQP1 Bryony Thompson reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40229839, 37007933, 35811711, 35627312, 35346192, 29650961; Phenotypes: pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.4458 EXOC8 Zornitza Stark Marked gene: EXOC8 as ready
Mendeliome v1.4458 EXOC8 Zornitza Stark Gene: exoc8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.678 EXOC8 Zornitza Stark Marked gene: EXOC8 as ready
Intellectual disability syndromic and non-syndromic v1.678 EXOC8 Zornitza Stark Gene: exoc8 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.59 EMD Zornitza Stark Publications for gene: EMD were set to 24997722
Dilated Cardiomyopathy v1.58 EMD Zornitza Stark edited their review of gene: EMD: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v1.58 EMD Zornitza Stark Classified gene: EMD as Green List (high evidence)
Dilated Cardiomyopathy v1.58 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.57 EMD Zornitza Stark changed review comment from: Multiple reports of isolated DCM, including pedigrees with extensive segregation. The p.Val26Ala variant is reported in multiple individuals.; to: Multiple reports of isolated DCM, including pedigrees with extensive segregation. The p.Val26Ala variant is reported in multiple individuals from the Canary Islands ?founder.
Dilated Cardiomyopathy v1.57 EMD Zornitza Stark reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18266676, 24997722, 32755394, 38337354, 40065010; Phenotypes: Cardiomyopathy, dilated, 3C, MIM# 301163; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoimmune Lymphoproliferative Syndrome v1.12 CASP10 Zornitza Stark changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen due to relatively high pop frequency of some of the missense variants.
Autoimmune Lymphoproliferative Syndrome v1.12 CASP10 Zornitza Stark Classified gene: CASP10 as Amber List (moderate evidence)
Autoimmune Lymphoproliferative Syndrome v1.12 CASP10 Zornitza Stark Gene: casp10 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v1.11 CASP10 Zornitza Stark reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.4458 CASP10 Zornitza Stark Classified gene: CASP10 as Amber List (moderate evidence)
Mendeliome v1.4458 CASP10 Zornitza Stark Gene: casp10 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v1.37 CASP10 Zornitza Stark Classified gene: CASP10 as Amber List (moderate evidence)
Disorders of immune dysregulation v1.37 CASP10 Zornitza Stark Gene: casp10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.540 GRK2 Zornitza Stark Publications for gene: GRK2 were set to 33200460
Fetal anomalies v1.539 GRK2 Zornitza Stark Classified gene: GRK2 as Green List (high evidence)
Fetal anomalies v1.539 GRK2 Zornitza Stark Gene: grk2 has been classified as Green List (High Evidence).
Fetal anomalies v1.538 GRK2 Zornitza Stark reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38647386; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v1.23 GRK2 Zornitza Stark Publications for gene: GRK2 were set to 33200460
Skeletal Ciliopathies v1.22 GRK2 Zornitza Stark Classified gene: GRK2 as Green List (high evidence)
Skeletal Ciliopathies v1.22 GRK2 Zornitza Stark Gene: grk2 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v1.21 GRK2 Zornitza Stark edited their review of gene: GRK2: Added comment: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.; Changed rating: GREEN; Changed publications: 33200460, 38647386
Ciliopathies v1.99 GRK2 Zornitza Stark Publications for gene: GRK2 were set to 33200460
Ciliopathies v1.98 GRK2 Zornitza Stark Classified gene: GRK2 as Green List (high evidence)
Ciliopathies v1.98 GRK2 Zornitza Stark Gene: grk2 has been classified as Green List (High Evidence).
Mendeliome v1.4457 GRK2 Zornitza Stark Publications for gene: GRK2 were set to 33200460
Ciliopathies v1.97 GRK2 Zornitza Stark edited their review of gene: GRK2: Added comment: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.; Changed rating: GREEN; Changed publications: 33200460, 38647386
Mendeliome v1.4456 GRK2 Zornitza Stark Classified gene: GRK2 as Green List (high evidence)
Mendeliome v1.4456 GRK2 Zornitza Stark Gene: grk2 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.114 Zornitza Stark Copied gene REC8 from panel Primary Ovarian Insufficiency_Premature Ovarian Failure
Infertility and Recurrent Pregnancy Loss v1.114 REC8 Zornitza Stark gene: REC8 was added
gene: REC8 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Phenotypes for gene: REC8 were set to Primary ovarian insufficiency
Mendeliome v1.4455 GRK2 Teresa Zhao changed review comment from: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.; to: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.
Fetal anomalies v1.538 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820
Fetal anomalies v1.537 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v1.678 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820
Intellectual disability syndromic and non-syndromic v1.677 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820
Holoprosencephaly and septo-optic dysplasia v1.23 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820
Holoprosencephaly and septo-optic dysplasia v1.22 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820
Differences of Sex Development v1.44 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820
Differences of Sex Development v1.43 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed phenotypes: Genitourinary and/or/brain malformation syndrome MIM#618820
Mendeliome v1.4455 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome MIM#618820
Mendeliome v1.4454 MCAT Rylee Peters reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 36881526, 33918393, 31915829; Phenotypes: Optic atrophy 15, MIM# 620583, Mitochondrial disease (MONDO:0044970), MCAT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4454 GRK2 Teresa Zhao reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38647386; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4454 CASP10 Chern Lim reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome, type II, MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Disorders of immune dysregulation v1.36 CASP10 Chern Lim reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome, type II, MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary Neuropathy v1.182 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Hereditary Neuropathy v1.182 PMP22 Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.182 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800
Hereditary Neuropathy v1.181 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Hereditary Neuropathy v1.180 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v1.179 PMP22 Zornitza Stark edited their review of gene: PMP22: Added comment: Addition of studies to support GREEN AR GDA with PMP22. The reported affected individuals present with infantile/early-onset CMT/ Dejerine‑Sottas disease (which is now known as CMT type 3).

AD GDA (GREEN)
Classified as Definitive ClinGen CMT GCEP in association with Charcot-Marie-Tooth disease type 1A - https://search.clinicalgenome.org/CCID:005837

Classified as Definitive by ClinGen CMT GCEp in association with hereditary neuropathy with liability to pressure palsies - https://search.clinicalgenome.org/CCID:008314; Changed publications: 32412171, 31777123, 32719652; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4454 PMP22 Zornitza Stark Publications for gene: PMP22 were set to 32356557
Mendeliome v1.4453 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.430 RBM12 Zornitza Stark Phenotypes for gene: RBM12 were changed from to Schizophrenia 19 (MIM#617629)
Incidentalome v0.429 RBM12 Zornitza Stark reviewed gene: RBM12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schizophrenia 19 (MIM#617629); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4452 PTPA Zornitza Stark Publications for gene: PTPA were set to 36073231; 37448355
Mendeliome v1.4451 PTPA Zornitza Stark edited their review of gene: PTPA: Added comment: Further family reported in PMID 37046398 with homozygous missense and early onset PD; however, variant is hmz missense with no supportive data.; Changed publications: 36073231, 37046398
Early-onset Parkinson disease v2.50 PTPA Zornitza Stark Publications for gene: PTPA were set to 36073231; 37448355
Early-onset Parkinson disease v2.49 PTPA Zornitza Stark edited their review of gene: PTPA: Added comment: Further family reported in PMID 37046398 with homozygous missense and early onset PD; however, variant is hmz missense with no supportive data.; Changed publications: 36073231, 37046398
Fetal anomalies v1.537 NEK9 Zornitza Stark Classified gene: NEK9 as Green List (high evidence)
Fetal anomalies v1.537 NEK9 Zornitza Stark Gene: nek9 has been classified as Green List (High Evidence).
Fetal anomalies v1.536 NEK9 Zornitza Stark edited their review of gene: NEK9: Added comment: Three more families reported with milder phenotypes, but still a range of abnormalities that are potentially detectable on fetal US.; Changed rating: GREEN; Changed publications: 26908619, 21271645, 36712877
Multiple pterygium syndrome_Fetal akinesia sequence v1.11 NEK9 Zornitza Stark Publications for gene: NEK9 were set to 26908619
Multiple pterygium syndrome_Fetal akinesia sequence v1.10 NEK9 Zornitza Stark edited their review of gene: NEK9: Added comment: Another 2 families reported in PMID 36712877 but again with milder arthrogryposis, retain Amber rating on this panel.; Changed publications: 26908619, 21271645, 36712877
Arthrogryposis v1.16 NEK9 Zornitza Stark Publications for gene: NEK9 were set to 26908619; 21271645
Arthrogryposis v1.15 NEK9 Zornitza Stark edited their review of gene: NEK9: Changed publications: 36712877, 26908619, 21271645
Arthrogryposis v1.15 NEK9 Zornitza Stark Classified gene: NEK9 as Green List (high evidence)
Arthrogryposis v1.15 NEK9 Zornitza Stark Gene: nek9 has been classified as Green List (High Evidence).
Arthrogryposis v1.14 NEK9 Zornitza Stark edited their review of gene: NEK9: Added comment: PMID 36712877: 2 more families reported with neonatal arthrogryposis, contractures, camptodactyly, atrial septal defect, mild pulmonary stenosis, and pyloric stenosis; biallelic LoF variants.

The reported disease entities appear to represent a spectrum of disease.; Changed rating: GREEN
Skeletal Dysplasia_Fetal v0.245 NEK9 Zornitza Stark Publications for gene: NEK9 were set to 26908619
Skeletal Dysplasia_Fetal v0.244 NEK9 Zornitza Stark edited their review of gene: NEK9: Added comment: Three more families reported but with milder phenotypes and post-natal presentation, retain Red rating on this panel.; Changed publications: 26908619, 21271645, 36712877; Changed phenotypes: Lethal congenital contracture syndrome 10, MIM# 617022, Skeletal dysplasia
Mendeliome v1.4451 NEK9 Zornitza Stark Publications for gene: NEK9 were set to 26908619; 21271645
Mendeliome v1.4450 NEK9 Zornitza Stark Classified gene: NEK9 as Green List (high evidence)
Mendeliome v1.4450 NEK9 Zornitza Stark Gene: nek9 has been classified as Green List (High Evidence).
Mendeliome v1.4449 NEK9 Zornitza Stark edited their review of gene: NEK9: Added comment: PMID 36712877: 2 more families reported with neonatal arthrogryposis, contractures, camptodactyly, atrial septal defect, mild pulmonary stenosis, and pyloric stenosis; biallelic LoF variants.; Changed rating: GREEN; Changed publications: 26908619, 21271645, 36712877
Pituitary hormone deficiency v0.176 NDNF Zornitza Stark Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.175 NDNF Zornitza Stark edited their review of gene: NDNF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.175 NDNF Zornitza Stark edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Hypogonadotropic hypogonadism v0.82 NDNF Zornitza Stark Marked gene: NDNF as ready
Hypogonadotropic hypogonadism v0.82 NDNF Zornitza Stark Gene: ndnf has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v0.82 NDNF Zornitza Stark Publications for gene: NDNF were set to 31883645; 40788466
Hypogonadotropic hypogonadism v0.81 NDNF Zornitza Stark Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism v0.80 NDNF Zornitza Stark edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v1.43 NDNF Zornitza Stark Publications for gene: NDNF were set to 31883645; 40788466
Differences of Sex Development v1.42 NDNF Zornitza Stark Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v1.41 NDNF Zornitza Stark edited their review of gene: NDNF: Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Differences of Sex Development v1.41 NDNF Zornitza Stark edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4449 NDNF Zornitza Stark Publications for gene: NDNF were set to 31883645; 40788466
Mendeliome v1.4448 NDNF Zornitza Stark Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4447 NDNF Zornitza Stark edited their review of gene: NDNF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4447 NDNF Zornitza Stark edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Mendeliome v1.4447 NAV2 Zornitza Stark Phenotypes for gene: NAV2 were changed from Developmental delay; cerebellar hypoplasia; cerebellar dysplasia to Neurodevelopmental disorder, MONDO:0700092, NAV2-related
Mendeliome v1.4446 NAV2 Zornitza Stark reviewed gene: NAV2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NAV2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.677 NAV2 Zornitza Stark Marked gene: NAV2 as ready
Intellectual disability syndromic and non-syndromic v1.677 NAV2 Zornitza Stark Gene: nav2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.677 NAV2 Zornitza Stark Phenotypes for gene: NAV2 were changed from Developmental delay; cerebellar hypoplasia; cerebellar dysplasia to Neurodevelopmental disorder, MONDO:0700092, NAV2-related
Intellectual disability syndromic and non-syndromic v1.676 NAV2 Zornitza Stark reviewed gene: NAV2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NAV2-related; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v1.676 Zornitza Stark Copied gene NAV2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.676 NAV2 Zornitza Stark gene: NAV2 was added
gene: NAV2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NAV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAV2 were set to PMID:35218524
Phenotypes for gene: NAV2 were set to Developmental delay; cerebellar hypoplasia; cerebellar dysplasia
Intellectual disability syndromic and non-syndromic v1.675 RSF1 Rylee Peters Marked gene: RSF1 as ready
Intellectual disability syndromic and non-syndromic v1.675 RSF1 Rylee Peters Gene: rsf1 has been classified as Green List (High Evidence).
Mendeliome v1.4446 RSF1 Rylee Peters Marked gene: RSF1 as ready
Mendeliome v1.4446 RSF1 Rylee Peters Gene: rsf1 has been classified as Green List (High Evidence).
Mendeliome v1.4446 PMP22 Sangavi Sivagnanasundram reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: 32412171, 31777123, 32719652; Phenotypes: Charcot-Marie-Tooth disease type 3 MONDO:0007790, Charcot-Marie-Tooth disease type 1A MONDO:0007309, hereditary neuropathy with liability to pressure palsies MONDO:0008087; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.536 LRRC32 Zornitza Stark Publications for gene: LRRC32 were set to 30976112
Fetal anomalies v1.535 LRRC32 Zornitza Stark reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: 41041957; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.312 LRRC32 Zornitza Stark Publications for gene: LRRC32 were set to PMID: 30976112
Clefting disorders v0.311 LRRC32 Zornitza Stark reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: 41041957; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.246 LRRC32 Zornitza Stark Publications for gene: LRRC32 were set to 30976112
Syndromic Retinopathy v0.245 LRRC32 Zornitza Stark edited their review of gene: LRRC32: Added comment: Further family reported in PMID 41041957 with homozygous missense.; Changed publications: 30976112, 41041957
Intellectual disability syndromic and non-syndromic v1.675 LRRC32 Zornitza Stark Publications for gene: LRRC32 were set to 30976112
Intellectual disability syndromic and non-syndromic v1.674 LRRC32 Zornitza Stark edited their review of gene: LRRC32: Added comment: Further family reported in PMID 41041957, homozygous missense variant.; Changed publications: 30976112, 41041957
Mendeliome v1.4446 LRRC32 Zornitza Stark Publications for gene: LRRC32 were set to 30976112
Mendeliome v1.4445 LRRC32 Zornitza Stark edited their review of gene: LRRC32: Added comment: Further family reported in PMID 41041957, homozygous missense variant.; Changed publications: 30976112, 41041957
Neurodegenerative disease - adult onset v6.182 Bryony Thompson Changed child panels to: Early-onset Parkinson disease; Ataxia; Hereditary Spastic Paraplegia; Early-onset Dementia; Motor Neurone Disease
Cataract v0.629 MIR204 Zornitza Stark Marked gene: MIR204 as ready
Cataract v0.629 MIR204 Zornitza Stark Gene: mir204 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.56 MIR204 Zornitza Stark Marked gene: MIR204 as ready
Anophthalmia_Microphthalmia_Coloboma v1.56 MIR204 Zornitza Stark Gene: mir204 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.239 Zornitza Stark Copied gene MIR204 from panel Mendeliome
Retinitis pigmentosa v0.239 MIR204 Zornitza Stark gene: MIR204 was added
gene: MIR204 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
non-coding gene tags were added to gene: MIR204.
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Mode of pathogenicity for gene: MIR204 was set to Other
Cataract v0.629 Zornitza Stark Copied gene MIR204 from panel Mendeliome
Cataract v0.629 MIR204 Zornitza Stark gene: MIR204 was added
gene: MIR204 was added to Cataract. Sources: Expert Review Green,Literature
non-coding gene tags were added to gene: MIR204.
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Mode of pathogenicity for gene: MIR204 was set to Other
Cone-rod Dystrophy v0.59 MIR204 Zornitza Stark Classified gene: MIR204 as Red List (low evidence)
Cone-rod Dystrophy v0.59 MIR204 Zornitza Stark Gene: mir204 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.58 MIR204 Zornitza Stark reviewed gene: MIR204: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Anophthalmia_Microphthalmia_Coloboma v1.56 Zornitza Stark Copied gene MIR204 from panel Mendeliome
Anophthalmia_Microphthalmia_Coloboma v1.56 MIR204 Zornitza Stark gene: MIR204 was added
gene: MIR204 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Green,Literature
non-coding gene tags were added to gene: MIR204.
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Mode of pathogenicity for gene: MIR204 was set to Other
Optic Atrophy v1.68 MIR204 Zornitza Stark Classified gene: MIR204 as Red List (low evidence)
Optic Atrophy v1.68 MIR204 Zornitza Stark Gene: mir204 has been classified as Red List (Low Evidence).
Optic Atrophy v1.67 MIR204 Zornitza Stark reviewed gene: MIR204: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.4445 MIR204 Zornitza Stark Publications for gene: MIR204 were set to 26056285; 37321975
Mendeliome v1.4444 MIR204 Zornitza Stark Classified gene: MIR204 as Green List (high evidence)
Mendeliome v1.4444 MIR204 Zornitza Stark Gene: mir204 has been classified as Green List (High Evidence).
Mendeliome v1.4443 MIR204 Zornitza Stark changed review comment from: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.

PMID 20713703: medaka fish model recapitulates coloboma and impaired lens development.

Mouse model in PMID 31332443 recapitulates retinal phenotype.; to: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.

PMID 20713703: medaka fish model recapitulates coloboma and impaired lens development.

Mouse model in PMID 31332443 recapitulates retinal phenotype.

MODERATE by ClinGen.
Mendeliome v1.4443 MIR204 Zornitza Stark changed review comment from: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.

PMID 20713703: medaka fish model recapitulates coloboma and impaired lens development; to: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.

PMID 20713703: medaka fish model recapitulates coloboma and impaired lens development.

Mouse model in PMID 31332443 recapitulates retinal phenotype.
Mendeliome v1.4443 MIR204 Zornitza Stark edited their review of gene: MIR204: Changed publications: 38867642, 20713703, 31332443
Mendeliome v1.4443 MIR204 Zornitza Stark edited their review of gene: MIR204: Changed publications: 38867642, 20713703
Mendeliome v1.4443 MIR204 Zornitza Stark changed review comment from: Two families only; to: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.

PMID 20713703: medaka fish model recapitulates coloboma and impaired lens development
Mendeliome v1.4443 MIR204 Zornitza Stark edited their review of gene: MIR204: Changed rating: GREEN; Changed publications: 38867642; Changed phenotypes: Retinal dystrophy and iris coloboma with or without cataract (MIM#616722); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4443 MIR204 Zornitza Stark reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v1.674 Rylee Peters Copied gene RSF1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.674 RSF1 Rylee Peters gene: RSF1 was added
gene: RSF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RSF1 were set to 41606215
Phenotypes for gene: RSF1 were set to Neurodevelopmental disorder, MONDO:0700092, RSF1-related
Mendeliome v1.4443 RSF1 Rylee Peters Classified gene: RSF1 as Green List (high evidence)
Mendeliome v1.4443 RSF1 Rylee Peters Gene: rsf1 has been classified as Green List (High Evidence).
Mendeliome v1.4442 RSF1 Rylee Peters gene: RSF1 was added
gene: RSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RSF1 were set to 41606215
Phenotypes for gene: RSF1 were set to Neurodevelopmental disorder, MONDO:0700092, RSF1-related
Review for gene: RSF1 was set to GREEN
Added comment: PMID: 41606215 describes 11 individuals from 11 unrelated families with heterozygous RSF1 variants causing a syndromic neurodevelopmental disorder with intellectual disability or limit scores (7/11), ASD (4/11) and developmental delay (6/11). Other features described include dysmorphism (5/7), variable macro‑/microcephaly (3/6), epilepsy (2/7), and brain MRI anomalies (2/4). Majority of the variants are de novo, one was inherited from a mosaic mother and another inherited from an affected father.
Sources: Literature
Fetal anomalies v1.535 GINS3 Zornitza Stark Marked gene: GINS3 as ready
Fetal anomalies v1.535 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Fetal anomalies v1.535 GINS3 Zornitza Stark Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512
Fetal anomalies v1.534 GINS3 Zornitza Stark Classified gene: GINS3 as Green List (high evidence)
Fetal anomalies v1.534 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Fetal anomalies v1.533 GINS3 Zornitza Stark edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512
Growth failure v1.99 GINS3 Zornitza Stark Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512
Growth failure v1.98 GINS3 Zornitza Stark edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512
Skeletal dysplasia v0.416 GINS3 Zornitza Stark Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512
Skeletal dysplasia v0.415 GINS3 Zornitza Stark edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512
Microcephaly v1.413 GINS3 Zornitza Stark Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512
Microcephaly v1.412 GINS3 Zornitza Stark edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512
Mendeliome v1.4441 GINS3 Zornitza Stark Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512
Mendeliome v1.4440 GINS3 Zornitza Stark edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512
Mendeliome v1.4440 CFAP70 Bryony Thompson gene: CFAP70 was added
gene: CFAP70 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP70 were set to 31621862
Phenotypes for gene: CFAP70 were set to spermatogenic failure MONDO:0004983
Review for gene: CFAP70 was set to RED
Added comment: A single case reported.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.113 Bryony Thompson Copied gene QRICH2 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.113 QRICH2 Bryony Thompson gene: QRICH2 was added
gene: QRICH2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: QRICH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QRICH2 were set to 30683861; 31292949
Phenotypes for gene: QRICH2 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4439 QRICH2 Bryony Thompson Classified gene: QRICH2 as Green List (high evidence)
Mendeliome v1.4439 QRICH2 Bryony Thompson Gene: qrich2 has been classified as Green List (High Evidence).
Mendeliome v1.4438 QRICH2 Bryony Thompson gene: QRICH2 was added
gene: QRICH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: QRICH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QRICH2 were set to 30683861; 31292949
Phenotypes for gene: QRICH2 were set to spermatogenic failure MONDO:0004983
Review for gene: QRICH2 was set to GREEN
Added comment: At least 4 unrelated men and a supporting mouse model.
Sources: Literature
Deafness_IsolatedAndComplex v1.331 Bryony Thompson Copied gene TMTC4 from panel Mendeliome
Deafness_IsolatedAndComplex v1.331 TMTC4 Bryony Thompson gene: TMTC4 was added
gene: TMTC4 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: TMTC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMTC4 were set to 37943620
Phenotypes for gene: TMTC4 were set to hearing loss, autosomal recessive MONDO:0019588
Mendeliome v1.4437 TMTC4 Bryony Thompson gene: TMTC4 was added
gene: TMTC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMTC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMTC4 were set to 37943620
Phenotypes for gene: TMTC4 were set to hearing loss, autosomal recessive MONDO:0019588
Review for gene: TMTC4 was set to RED
Added comment: A single family reported and a supporting mouse model
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.112 Bryony Thompson Copied gene WDR66 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.112 WDR66 Bryony Thompson gene: WDR66 was added
gene: WDR66 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
new gene name tags were added to gene: WDR66.
Mode of inheritance for gene: WDR66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR66 were set to 30122540; 30122541
Phenotypes for gene: WDR66 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4436 WDR66 Bryony Thompson Classified gene: WDR66 as Green List (high evidence)
Mendeliome v1.4436 WDR66 Bryony Thompson Gene: wdr66 has been classified as Green List (High Evidence).
Mendeliome v1.4435 WDR66 Bryony Thompson gene: WDR66 was added
gene: WDR66 was added to Mendeliome. Sources: Literature
new gene name tags were added to gene: WDR66.
Mode of inheritance for gene: WDR66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR66 were set to 30122540; 30122541
Phenotypes for gene: WDR66 were set to spermatogenic failure MONDO:0004983
Review for gene: WDR66 was set to GREEN
Added comment: At least 10 families/men reported.
Sources: Literature
Corneal Dystrophy v1.21 Bryony Thompson Copied gene TUBA3D from panel Mendeliome
Corneal Dystrophy v1.21 TUBA3D Bryony Thompson gene: TUBA3D was added
gene: TUBA3D was added to Corneal Dystrophy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TUBA3D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA3D were set to 29051577
Phenotypes for gene: TUBA3D were set to keratoconus MONDO:0015486
Mendeliome v1.4434 TUBA3D Bryony Thompson Classified gene: TUBA3D as Amber List (moderate evidence)
Mendeliome v1.4434 TUBA3D Bryony Thompson Gene: tuba3d has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4433 TUBA3D Bryony Thompson gene: TUBA3D was added
gene: TUBA3D was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TUBA3D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA3D were set to 29051577
Phenotypes for gene: TUBA3D were set to keratoconus MONDO:0015486
Review for gene: TUBA3D was set to AMBER
Added comment: 4 cases (including twins) with 2 variants. Functional analysis showed that the mutant proteins led to higher expression of matrix metalloproteinase genes and higher levels of oxidative stress, which the authors suggested would reduce extracellular matrix in the corneas and contribute to stromal thinning.
Sources: Literature
Pain syndromes v0.38 Bryony Thompson Copied gene ZFHX2 from panel Mendeliome
Pain syndromes v0.38 ZFHX2 Bryony Thompson gene: ZFHX2 was added
gene: ZFHX2 was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: ZFHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX2 were set to 29253101
Phenotypes for gene: ZFHX2 were set to congenital insensitivity to pain syndrome, Marsili type MONDO:0958106
Mendeliome v1.4432 ZFHX2 Bryony Thompson gene: ZFHX2 was added
gene: ZFHX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZFHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX2 were set to 29253101
Phenotypes for gene: ZFHX2 were set to congenital insensitivity to pain syndrome, Marsili type MONDO:0958106
Review for gene: ZFHX2 was set to RED
Added comment: A single family reported and a supporting mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.111 Bryony Thompson Copied gene CFAP44 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.111 CFAP44 Bryony Thompson gene: CFAP44 was added
gene: CFAP44 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CFAP44 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP44 were set to 28552195; 29277146; 29449551
Phenotypes for gene: CFAP44 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4431 CFAP44 Bryony Thompson Classified gene: CFAP44 as Green List (high evidence)
Mendeliome v1.4431 CFAP44 Bryony Thompson Gene: cfap44 has been classified as Green List (High Evidence).
Mendeliome v1.4430 CFAP44 Bryony Thompson gene: CFAP44 was added
gene: CFAP44 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP44 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP44 were set to 28552195; 29277146; 29449551
Phenotypes for gene: CFAP44 were set to spermatogenic failure MONDO:0004983
Review for gene: CFAP44 was set to GREEN
Added comment: At least 11 men reported with biallelic variants and a supporting mouse model.
Sources: Literature
Haem degradation and bilirubin metabolism defects v0.20 Bryony Thompson Copied gene CLPX from panel Mendeliome
Haem degradation and bilirubin metabolism defects v0.20 CLPX Bryony Thompson gene: CLPX was added
gene: CLPX was added to Haem degradation and bilirubin metabolism defects. Sources: Literature
Mode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLPX were set to 28874591; 25957689
Phenotypes for gene: CLPX were set to protoporphyria, erythropoietic, 2 MONDO:0060729
Mendeliome v1.4429 CLPX Bryony Thompson gene: CLPX was added
gene: CLPX was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLPX were set to 28874591; 25957689
Phenotypes for gene: CLPX were set to protoporphyria, erythropoietic, 2 MONDO:0060729
Review for gene: CLPX was set to RED
Added comment: A single family reported and a supporting zebrafish model.
Sources: Literature
Mendeliome v1.4428 AK7 Bryony Thompson reviewed gene: AK7: Rating: RED; Mode of pathogenicity: None; Publications: 29365104; Phenotypes: spermatogenic failure MONDO:0004983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.110 Bryony Thompson Copied gene AK9 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.110 AK9 Bryony Thompson gene: AK9 was added
gene: AK9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: AK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK9 were set to 37713809
Phenotypes for gene: AK9 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4428 AK9 Bryony Thompson Classified gene: AK9 as Green List (high evidence)
Mendeliome v1.4428 AK9 Bryony Thompson Gene: ak9 has been classified as Green List (High Evidence).
Mendeliome v1.4427 AK9 Bryony Thompson gene: AK9 was added
gene: AK9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK9 were set to 37713809
Phenotypes for gene: AK9 were set to spermatogenic failure MONDO:0004983
Review for gene: AK9 was set to GREEN
Added comment: At least 5 unrelated men and a supporting mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.673 Bryony Thompson Copied gene EXOC8 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.673 EXOC8 Bryony Thompson gene: EXOC8 was added
gene: EXOC8 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EXOC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC8 were set to 32103185; 22700954; 36344539; 35460391
Phenotypes for gene: EXOC8 were set to neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662
Mendeliome v1.4426 EXOC8 Bryony Thompson Classified gene: EXOC8 as Green List (high evidence)
Mendeliome v1.4426 EXOC8 Bryony Thompson Gene: exoc8 has been classified as Green List (High Evidence).
Mendeliome v1.4425 EXOC8 Bryony Thompson gene: EXOC8 was added
gene: EXOC8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC8 were set to 32103185; 22700954; 36344539; 35460391
Phenotypes for gene: EXOC8 were set to neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662
Review for gene: EXOC8 was set to GREEN
Added comment: At least 4 families/cases with a neurodevelopmental phenotype.
Sources: Literature
Mendeliome v1.4424 TUBB6 Bryony Thompson gene: TUBB6 was added
gene: TUBB6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TUBB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB6 were set to 29016863
Phenotypes for gene: TUBB6 were set to facial palsy, congenital, with ptosis and velopharyngeal dysfunction MONDO:0060589
Review for gene: TUBB6 was set to RED
Added comment: A single family reported.
Sources: Literature
Mendeliome v1.4423 EPS8L3 Bryony Thompson gene: EPS8L3 was added
gene: EPS8L3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EPS8L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPS8L3 were set to 23099647
Phenotypes for gene: EPS8L3 were set to Marie Unna hereditary hypotrichosis MONDO:0018631
Review for gene: EPS8L3 was set to RED
Added comment: A single family reported.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v1.18 Bryony Thompson Copied gene MIR2861 from panel Mendeliome
Osteogenesis Imperfecta and Osteoporosis v1.18 MIR2861 Bryony Thompson gene: MIR2861 was added
gene: MIR2861 was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature
Mode of inheritance for gene: MIR2861 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MIR2861 were set to 19920351
Phenotypes for gene: MIR2861 were set to osteoporosis MONDO:0005298
Mendeliome v1.4422 MIR2861 Bryony Thompson gene: MIR2861 was added
gene: MIR2861 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MIR2861 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MIR2861 were set to 19920351
Phenotypes for gene: MIR2861 were set to osteoporosis MONDO:0005298
Review for gene: MIR2861 was set to RED
Added comment: A single family reported.
Sources: Literature
Proteinuria v0.235 Bryony Thompson Copied gene AVIL from panel Mendeliome
Proteinuria v0.235 AVIL Bryony Thompson gene: AVIL was added
gene: AVIL was added to Proteinuria. Sources: Expert Review Green,Literature
Mode of inheritance for gene: AVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AVIL were set to 29058690
Phenotypes for gene: AVIL were set to Nephrotic syndrome, type 21 MONDO:0032826
Mendeliome v1.4421 AVIL Bryony Thompson Classified gene: AVIL as Green List (high evidence)
Mendeliome v1.4421 AVIL Bryony Thompson Gene: avil has been classified as Green List (High Evidence).
Mendeliome v1.4420 AVIL Bryony Thompson gene: AVIL was added
gene: AVIL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AVIL were set to 29058690
Phenotypes for gene: AVIL were set to Nephrotic syndrome, type 21 MONDO:0032826
Review for gene: AVIL was set to GREEN
Added comment: 3 cases with 4 different variants and supporting in vitro functional assays demonstrating that the variants altered podocyte migration.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.109 Bryony Thompson Copied gene SPACA1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.109 SPACA1 Bryony Thompson gene: SPACA1 was added
gene: SPACA1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: SPACA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPACA1 were set to 34172998; 22949614
Phenotypes for gene: SPACA1 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4419 SPACA1 Bryony Thompson gene: SPACA1 was added
gene: SPACA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPACA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPACA1 were set to 34172998; 22949614
Phenotypes for gene: SPACA1 were set to spermatogenic failure MONDO:0004983
Review for gene: SPACA1 was set to RED
Added comment: A single family reported and a supporting mouse model.
Sources: Literature
Mendeliome v1.4418 ABCA5 Bryony Thompson gene: ABCA5 was added
gene: ABCA5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ABCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA5 were set to 24831815
Phenotypes for gene: ABCA5 were set to gingival fibromatosis-hypertrichosis syndrome MONDO:0007610
Review for gene: ABCA5 was set to RED
Added comment: A single case was reported, and a supporting mouse model
Sources: Literature
Incidentalome v0.429 Bryony Thompson Copied gene RNF43 from panel Colorectal Cancer and Polyposis
Incidentalome v0.429 RNF43 Bryony Thompson gene: RNF43 was added
gene: RNF43 was added to Incidentalome. Sources: Expert Review Green,Literature,Expert Review,Expert list
Mode of inheritance for gene: RNF43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF43 were set to PMID: 24512911, 34541672, 27329244, 27081527, 29330307
Phenotypes for gene: RNF43 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108
Mendeliome v1.4417 TRIM44 Bryony Thompson Marked gene: TRIM44 as ready
Mendeliome v1.4417 TRIM44 Bryony Thompson Gene: trim44 has been classified as Red List (Low Evidence).
Mendeliome v1.4417 TRIM44 Bryony Thompson gene: TRIM44 was added
gene: TRIM44 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM44 were set to 26394807
Phenotypes for gene: TRIM44 were set to Aniridia 3 MONDO:0014938
Review for gene: TRIM44 was set to RED
Added comment: A single family reported
Sources: Literature
Ichthyosis and Porokeratosis v1.24 Bryony Thompson Copied gene SLC17A9 from panel Mendeliome
Ichthyosis and Porokeratosis v1.24 SLC17A9 Bryony Thompson gene: SLC17A9 was added
gene: SLC17A9 was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SLC17A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC17A9 were set to 25180256; 25596766
Phenotypes for gene: SLC17A9 were set to disseminated superficial actinic porokeratosis MONDO:0019212
Mendeliome v1.4416 SLC17A9 Bryony Thompson Marked gene: SLC17A9 as ready
Mendeliome v1.4416 SLC17A9 Bryony Thompson Gene: slc17a9 has been classified as Green List (High Evidence).
Mendeliome v1.4416 SLC17A9 Bryony Thompson Classified gene: SLC17A9 as Green List (high evidence)
Mendeliome v1.4416 SLC17A9 Bryony Thompson Gene: slc17a9 has been classified as Green List (High Evidence).
Mendeliome v1.4415 SLC17A9 Bryony Thompson gene: SLC17A9 was added
gene: SLC17A9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC17A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC17A9 were set to 25180256; 25596766
Phenotypes for gene: SLC17A9 were set to disseminated superficial actinic porokeratosis MONDO:0019212
Review for gene: SLC17A9 was set to GREEN
Added comment: 3 families reported with evidence of segregation with disease.
Sources: Literature
Mendeliome v1.4414 CENPT Bryony Thompson Marked gene: CENPT as ready
Mendeliome v1.4414 CENPT Bryony Thompson Gene: cenpt has been classified as Red List (Low Evidence).
Mendeliome v1.4414 CENPT Bryony Thompson gene: CENPT was added
gene: CENPT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CENPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPT were set to 29228025
Phenotypes for gene: CENPT were set to short stature and microcephaly with genital anomalies MONDO:0032875
Review for gene: CENPT was set to RED
Added comment: A single family reported, and a supporting zebrafish model.
Sources: Literature
Mendeliome v1.4413 BMS1 Bryony Thompson Marked gene: BMS1 as ready
Mendeliome v1.4413 BMS1 Bryony Thompson Gene: bms1 has been classified as Red List (Low Evidence).
Mendeliome v1.4413 BMS1 Bryony Thompson gene: BMS1 was added
gene: BMS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BMS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMS1 were set to 23785305
Phenotypes for gene: BMS1 were set to aplasia cutis congenita MONDO:0007145
Review for gene: BMS1 was set to RED
Added comment: A single family reported.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.108 Bryony Thompson Copied gene TTC21A from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.108 TTC21A Bryony Thompson gene: TTC21A was added
gene: TTC21A was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TTC21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21A were set to 30929735
Phenotypes for gene: TTC21A were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4412 TTC21A Bryony Thompson Marked gene: TTC21A as ready
Mendeliome v1.4412 TTC21A Bryony Thompson Gene: ttc21a has been classified as Green List (High Evidence).
Mendeliome v1.4412 TTC21A Bryony Thompson Classified gene: TTC21A as Green List (high evidence)
Mendeliome v1.4412 TTC21A Bryony Thompson Gene: ttc21a has been classified as Green List (High Evidence).
Mendeliome v1.4411 TTC21A Bryony Thompson gene: TTC21A was added
gene: TTC21A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21A were set to 30929735
Phenotypes for gene: TTC21A were set to spermatogenic failure MONDO:0004983
Review for gene: TTC21A was set to GREEN
Added comment: At least 3 men reported with biallelic variants and a supporting mouse model
Sources: Literature
Mendeliome v1.4410 Bryony Thompson Copied gene DNAL4 from panel Mirror movements
Mendeliome v1.4410 DNAL4 Bryony Thompson gene: DNAL4 was added
gene: DNAL4 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: DNAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAL4 were set to 25098561; 25236653
Phenotypes for gene: DNAL4 were set to Mirror movements 3 MIM#616059
Monogenic Diabetes v0.204 Bryony Thompson Copied gene MAFA from panel Mendeliome
Monogenic Diabetes v0.204 MAFA Bryony Thompson gene: MAFA was added
gene: MAFA was added to Monogenic Diabetes. Sources: Expert Review Green,Other
Mode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAFA were set to 29339498
Phenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, OMIM #:147630
Cardiomyopathy_Paediatric v0.222 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Cardiomyopathy_Paediatric v0.222 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.222 DSG2 Zornitza Stark Publications for gene: DSG2 were set to
Cardiomyopathy_Paediatric v0.221 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.220 Zornitza Stark Added reviews for gene DSG2 from panel Arrhythmogenic Cardiomyopathy
Infertility and Recurrent Pregnancy Loss v1.107 Bryony Thompson Copied gene MAATS1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.107 MAATS1 Bryony Thompson gene: MAATS1 was added
gene: MAATS1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
new gene name tags were added to gene: MAATS1.
Mode of inheritance for gene: MAATS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAATS1 were set to 32161152
Phenotypes for gene: MAATS1 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4409 MAATS1 Bryony Thompson Classified gene: MAATS1 as Green List (high evidence)
Mendeliome v1.4409 MAATS1 Bryony Thompson Gene: maats1 has been classified as Green List (High Evidence).
Mendeliome v1.4408 MAATS1 Bryony Thompson gene: MAATS1 was added
gene: MAATS1 was added to Mendeliome. Sources: Literature
new gene name tags were added to gene: MAATS1.
Mode of inheritance for gene: MAATS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAATS1 were set to 32161152
Phenotypes for gene: MAATS1 were set to spermatogenic failure MONDO:0004983
Review for gene: MAATS1 was set to GREEN
Added comment: 6 unrelated men of North African origin homozygous for 2 different variants and a supporting Trypanosoma brucei model.
Sources: Literature
Monogenic Diabetes v0.203 Bryony Thompson Copied gene CELA2A from panel Mendeliome
Monogenic Diabetes v0.203 CELA2A Bryony Thompson gene: CELA2A was added
gene: CELA2A was added to Monogenic Diabetes. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CELA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELA2A were set to 31358993
Phenotypes for gene: CELA2A were set to abdominal obesity-metabolic syndrome 4 MONDO:0032837
Dyslipidaemia v0.48 Bryony Thompson Copied gene CELA2A from panel Mendeliome
Dyslipidaemia v0.48 CELA2A Bryony Thompson gene: CELA2A was added
gene: CELA2A was added to Dyslipidaemia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CELA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELA2A were set to 31358993
Phenotypes for gene: CELA2A were set to abdominal obesity-metabolic syndrome 4 MONDO:0032837
Mendeliome v1.4407 CELA2A Bryony Thompson Classified gene: CELA2A as Green List (high evidence)
Mendeliome v1.4407 CELA2A Bryony Thompson Gene: cela2a has been classified as Green List (High Evidence).
Mendeliome v1.4406 CELA2A Bryony Thompson gene: CELA2A was added
gene: CELA2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CELA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELA2A were set to 31358993
Phenotypes for gene: CELA2A were set to abdominal obesity-metabolic syndrome 4 MONDO:0032837
Review for gene: CELA2A was set to GREEN
Added comment: 4 families/cases with a combination of the following features obesity, coronary artery disease, hypertriglyceridemia, hypertension, and type 2 diabetes. Segregation evidence in a large family and supporting in vitro fucntional studies.
Sources: Literature
Mendeliome v1.4405 TRIM36 Bryony Thompson gene: TRIM36 was added
gene: TRIM36 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRIM36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM36 were set to 28087737
Phenotypes for gene: TRIM36 were set to anencephaly MONDO:0000819
Review for gene: TRIM36 was set to RED
Added comment: A single foetus was reported with a homozygous variant.
Sources: Literature
Oligodontia v0.33 Bryony Thompson Copied gene GREM2 from panel Mendeliome
Oligodontia v0.33 GREM2 Bryony Thompson gene: GREM2 was added
gene: GREM2 was added to Oligodontia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GREM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREM2 were set to 26416033; 28992378; 24686385
Phenotypes for gene: GREM2 were set to Tooth agenesis, selective, 9 MONDO:0014999
Mendeliome v1.4404 GREM2 Bryony Thompson Classified gene: GREM2 as Amber List (moderate evidence)
Mendeliome v1.4404 GREM2 Bryony Thompson Gene: grem2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4403 GREM2 Bryony Thompson gene: GREM2 was added
gene: GREM2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GREM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREM2 were set to 26416033; 28992378; 24686385
Phenotypes for gene: GREM2 were set to Tooth agenesis, selective, 9 MONDO:0014999
Review for gene: GREM2 was set to AMBER
Added comment: 3 missense variants reported in 8 cases. Incomplete penetrance and variable expressivity were demonstrated. Also, a supporting mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.106 Bryony Thompson Copied gene ZPBP from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.106 ZPBP Bryony Thompson gene: ZPBP was added
gene: ZPBP was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ZPBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPBP were set to 31985809; 17664285
Phenotypes for gene: ZPBP were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4402 ZPBP Bryony Thompson gene: ZPBP was added
gene: ZPBP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZPBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPBP were set to 31985809; 17664285
Phenotypes for gene: ZPBP were set to spermatogenic failure MONDO:0004983
Review for gene: ZPBP was set to RED
Added comment: A single male case reported with a homozygous variant, and a supporting mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.105 Bryony Thompson Copied gene NANOS1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.105 NANOS1 Bryony Thompson gene: NANOS1 was added
gene: NANOS1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NANOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NANOS1 were set to 23315541
Phenotypes for gene: NANOS1 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4401 NANOS1 Bryony Thompson Classified gene: NANOS1 as Amber List (moderate evidence)
Mendeliome v1.4401 NANOS1 Bryony Thompson Gene: nanos1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4400 NANOS1 Bryony Thompson gene: NANOS1 was added
gene: NANOS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NANOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NANOS1 were set to 23315541
Phenotypes for gene: NANOS1 were set to spermatogenic failure MONDO:0004983
Review for gene: NANOS1 was set to AMBER
Added comment: 5 men with 3 different non-synonymous variants and incomplete segregation. 2 of the variants are inframe deletions in repeat regions.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.672 Bryony Thompson Copied gene ARHGEF2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.672 ARHGEF2 Bryony Thompson gene: ARHGEF2 was added
gene: ARHGEF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ARHGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF2 were set to 28453519
Phenotypes for gene: ARHGEF2 were set to neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797
Mendeliome v1.4399 ARHGEF2 Bryony Thompson gene: ARHGEF2 was added
gene: ARHGEF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARHGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF2 were set to 28453519
Phenotypes for gene: ARHGEF2 were set to neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797
Review for gene: ARHGEF2 was set to RED
Added comment: A single family reported and a supporting mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.104 Bryony Thompson Copied gene TSGA10 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.104 TSGA10 Bryony Thompson gene: TSGA10 was added
gene: TSGA10 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: TSGA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSGA10 were set to 28905369
Phenotypes for gene: TSGA10 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4398 TSGA10 Bryony Thompson gene: TSGA10 was added
gene: TSGA10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TSGA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSGA10 were set to 28905369
Phenotypes for gene: TSGA10 were set to spermatogenic failure MONDO:0004983
Review for gene: TSGA10 was set to RED
Added comment: A single case reported with a homozygous variant.
Sources: Literature
Eye Anterior Segment Abnormalities v1.20 Bryony Thompson Copied gene ELP4 from panel Mendeliome
Eye Anterior Segment Abnormalities v1.20 ELP4 Bryony Thompson gene: ELP4 was added
gene: ELP4 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655
Phenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246
Mode of pathogenicity for gene: ELP4 was set to Other
Cataract v0.628 Bryony Thompson Copied gene ELP4 from panel Mendeliome
Cataract v0.628 ELP4 Bryony Thompson gene: ELP4 was added
gene: ELP4 was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655
Phenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246
Mode of pathogenicity for gene: ELP4 was set to Other
Mendeliome v1.4397 ELP4 Bryony Thompson Marked gene: ELP4 as ready
Mendeliome v1.4397 ELP4 Bryony Thompson Gene: elp4 has been classified as Green List (High Evidence).
Mendeliome v1.4397 ELP4 Bryony Thompson Classified gene: ELP4 as Green List (high evidence)
Mendeliome v1.4397 ELP4 Bryony Thompson Gene: elp4 has been classified as Green List (High Evidence).
Mendeliome v1.4396 ELP4 Bryony Thompson gene: ELP4 was added
gene: ELP4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655
Phenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246
Mode of pathogenicity for gene: ELP4 was set to Other
Review for gene: ELP4 was set to GREEN
Added comment: At least 5 families/cases reported with ocular dysgenesis. The mechanism of disease appears to be monoallelic disruption of enhancer elements located in the introns of ELP4 but required for efficient PAX6 transactivation during ocular development through a feed-forward mechanism mediated by binding of the PAX6 transcription factor
Sources: Literature
Incidentalome v0.428 Bryony Thompson Copied gene VEZF1 from panel Dilated Cardiomyopathy
Incidentalome v0.428 VEZF1 Bryony Thompson gene: VEZF1 was added
gene: VEZF1 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: VEZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VEZF1 were set to 36657711
Phenotypes for gene: VEZF1 were set to dilated cardiomyopathy MONDO:0005021
Dilated Cardiomyopathy v1.57 VEZF1 Bryony Thompson gene: VEZF1 was added
gene: VEZF1 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: VEZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VEZF1 were set to 36657711
Phenotypes for gene: VEZF1 were set to dilated cardiomyopathy MONDO:0005021
Review for gene: VEZF1 was set to RED
Added comment: A single family reported.
Sources: Literature
Atrial Fibrillation v1.7 Bryony Thompson Copied gene NUP155 from panel Mendeliome
Atrial Fibrillation v1.7 NUP155 Bryony Thompson gene: NUP155 was added
gene: NUP155 was added to Atrial Fibrillation. Sources: Literature
Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP155 were set to 19070573
Phenotypes for gene: NUP155 were set to familial atrial fibrillation MONDO:0018054
Mendeliome v1.4395 NUP155 Bryony Thompson gene: NUP155 was added
gene: NUP155 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP155 were set to 19070573
Phenotypes for gene: NUP155 were set to familial atrial fibrillation MONDO:0018054
Review for gene: NUP155 was set to RED
Added comment: A single family reported and a supporting mouse model
Sources: Literature
Mendeliome v1.4394 HDAC9 Bryony Thompson gene: HDAC9 was added
gene: HDAC9 was added to Mendeliome. Sources: ClinGen
disputed tags were added to gene: HDAC9.
Mode of inheritance for gene: HDAC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC9 were set to 34750192; 35710300; 38318288
Phenotypes for gene: HDAC9 were set to Auriculocondylar syndrome MONDO:0000107
Review for gene: HDAC9 was set to RED
Added comment: Disputed classification by Craniofacial Malformations GCEP 20/11/2025
https://search.clinicalgenome.org/CCID:009067
Sources: ClinGen
Deafness_IsolatedAndComplex v1.330 Bryony Thompson Copied gene SLC44A4 from panel Mendeliome
Deafness_IsolatedAndComplex v1.330 SLC44A4 Bryony Thompson gene: SLC44A4 was added
gene: SLC44A4 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: SLC44A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC44A4 were set to 28013291
Phenotypes for gene: SLC44A4 were set to nonsyndromic genetic hearing loss MONDO:0019497
Mendeliome v1.4393 SLC44A4 Bryony Thompson gene: SLC44A4 was added
gene: SLC44A4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC44A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC44A4 were set to 28013291
Phenotypes for gene: SLC44A4 were set to nonsyndromic genetic hearing loss MONDO:0019497
Review for gene: SLC44A4 was set to RED
Added comment: A single family reported and a supporting zebrafish model.
Sources: Literature
Mendeliome v1.4392 ADGRE2 Bryony Thompson gene: ADGRE2 was added
gene: ADGRE2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADGRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADGRE2 were set to 26841242
Phenotypes for gene: ADGRE2 were set to autosomal dominant vibratory urticaria MONDO:0007447
Mode of pathogenicity for gene: ADGRE2 was set to Other
Review for gene: ADGRE2 was set to RED
Added comment: A single family reported segregating a gain-of-function missense variant.
Sources: Literature
Incidentalome v0.427 Bryony Thompson Copied gene PBRM1 from panel Kidney Cancer
Incidentalome v0.427 PBRM1 Bryony Thompson gene: PBRM1 was added
gene: PBRM1 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: PBRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PBRM1 were set to 25911086
Phenotypes for gene: PBRM1 were set to renal cell carcinoma MONDO:0005086
Kidney Cancer v1.12 PBRM1 Bryony Thompson gene: PBRM1 was added
gene: PBRM1 was added to Kidney Cancer. Sources: Literature
Mode of inheritance for gene: PBRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PBRM1 were set to 25911086
Phenotypes for gene: PBRM1 were set to renal cell carcinoma MONDO:0005086
Review for gene: PBRM1 was set to RED
Added comment: A single family reported.
Sources: Literature
Arrhythmogenic Cardiomyopathy v0.78 DSG2 Zornitza Stark Publications for gene: DSG2 were set to 33831308
Arrhythmogenic Cardiomyopathy v0.77 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4391 Bryony Thompson Added reviews for gene TEX15 from panel Mendeliome
Mendeliome v1.4390 TEX15 Bryony Thompson Marked gene: TEX15 as ready
Mendeliome v1.4390 TEX15 Bryony Thompson Gene: tex15 has been classified as Green List (High Evidence).
Mendeliome v1.4390 TEX15 Bryony Thompson Classified gene: TEX15 as Green List (high evidence)
Mendeliome v1.4390 TEX15 Bryony Thompson Gene: tex15 has been classified as Green List (High Evidence).
Mendeliome v1.4389 TEX15 Bryony Thompson gene: TEX15 was added
gene: TEX15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TEX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEX15 were set to 26199321; 28355598; 28303806
Phenotypes for gene: TEX15 were set to spermatogenic failure MONDO:0004983
Review for gene: TEX15 was set to GREEN
Added comment: At least 3 families reported with infertile males and a supporting mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.103 Bryony Thompson Copied gene SPINK2 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.103 SPINK2 Bryony Thompson gene: SPINK2 was added
gene: SPINK2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: SPINK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK2 were set to 28554943
Phenotypes for gene: SPINK2 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4388 SPINK2 Bryony Thompson gene: SPINK2 was added
gene: SPINK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPINK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK2 were set to 28554943
Phenotypes for gene: SPINK2 were set to spermatogenic failure MONDO:0004983
Review for gene: SPINK2 was set to RED
Added comment: A single family reported and a supporting null mouse model.
Sources: Literature
Growth failure v1.98 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092 to Microcephaly 31, primary, autosomal recessive, MIM# 621507
Growth failure v1.97 CDK4 Zornitza Stark edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507
Intellectual disability syndromic and non-syndromic v1.671 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092, CDK4-related to Microcephaly 31, primary, autosomal recessive, MIM# 621507
Intellectual disability syndromic and non-syndromic v1.670 CDK4 Zornitza Stark edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507
Microcephaly v1.412 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092 to Microcephaly 31, primary, autosomal recessive, MIM# 621507
Microcephaly v1.411 CDK4 Zornitza Stark edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507
Mendeliome v1.4387 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Microcephaly 31, primary, autosomal recessive, MIM# 621507; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4386 CDK4 Zornitza Stark edited their review of gene: CDK4: Changed phenotypes: Microcephaly 31, primary, autosomal recessive, MIM# 621507
Infertility and Recurrent Pregnancy Loss v1.102 Bryony Thompson Copied gene AKAP3 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.102 AKAP3 Bryony Thompson gene: AKAP3 was added
gene: AKAP3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: AKAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKAP3 were set to 35228300; 31969357
Phenotypes for gene: AKAP3 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4386 AKAP3 Bryony Thompson Classified gene: AKAP3 as Amber List (moderate evidence)
Mendeliome v1.4386 AKAP3 Bryony Thompson Gene: akap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4385 AKAP3 Bryony Thompson gene: AKAP3 was added
gene: AKAP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AKAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKAP3 were set to 35228300; 31969357
Phenotypes for gene: AKAP3 were set to spermatogenic failure MONDO:0004983
Review for gene: AKAP3 was set to AMBER
Added comment: 2 unrelated males from consanguineous families with homozygous variants (frameshift, missense), and supporting mouse model.
Sources: Literature
Deafness_IsolatedAndComplex v1.329 Bryony Thompson Copied gene GAB1 from panel Mendeliome
Deafness_IsolatedAndComplex v1.329 GAB1 Bryony Thompson gene: GAB1 was added
gene: GAB1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: GAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAB1 were set to 29408807
Phenotypes for gene: GAB1 were set to hearing loss, autosomal recessive MONDO:0019588
Mendeliome v1.4384 GAB1 Bryony Thompson gene: GAB1 was added
gene: GAB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAB1 were set to 29408807
Phenotypes for gene: GAB1 were set to hearing loss, autosomal recessive MONDO:0019588
Review for gene: GAB1 was set to RED
Added comment: A single family reported.
Sources: Literature
Incidentalome v0.426 Bryony Thompson Copied gene SLC25A11 from panel Paraganglioma_phaeochromocytoma
Incidentalome v0.426 SLC25A11 Bryony Thompson gene: SLC25A11 was added
gene: SLC25A11 was added to Incidentalome. Sources: Expert Review Red,Literature,Expert Review,Expert list
Mode of inheritance for gene: SLC25A11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC25A11 were set to PMID: 29431636
Phenotypes for gene: SLC25A11 were set to Paragangliomas 6, MONDO:0032767; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 6, MIM#618464
Mendeliome v1.4383 TIMELESS Bryony Thompson Marked gene: TIMELESS as ready
Mendeliome v1.4383 TIMELESS Bryony Thompson Gene: timeless has been classified as Red List (Low Evidence).
Mendeliome v1.4383 TIMELESS Bryony Thompson gene: TIMELESS was added
gene: TIMELESS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TIMELESS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIMELESS were set to 31138685
Phenotypes for gene: TIMELESS were set to Advance sleep phase syndrome MONDO:0015609
Review for gene: TIMELESS was set to RED
Added comment: A single family reported, and a supporting mouse model
Sources: Literature
Mendeliome v1.4382 Bryony Thompson Copied gene RPL21 from panel Hair disorders
Mendeliome v1.4382 RPL21 Bryony Thompson gene: RPL21 was added
gene: RPL21 was added to Mendeliome. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL21 were set to 21412954
Phenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885
Hair disorders v0.83 RPL21 Bryony Thompson edited their review of gene: RPL21: Changed rating: RED
Mendeliome v1.4381 IGSF3 Bryony Thompson gene: IGSF3 was added
gene: IGSF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IGSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGSF3 were set to 24372406
Phenotypes for gene: IGSF3 were set to familial congenital nasolacrimal duct obstruction MONDO:0007871
Review for gene: IGSF3 was set to RED
Added comment: A single consanguineous family reported with a homozygous variant.
Sources: Literature
Mendeliome v1.4380 PER3 Bryony Thompson gene: PER3 was added
gene: PER3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PER3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PER3 were set to 26903630
Phenotypes for gene: PER3 were set to advanced sleep phase syndrome MONDO:0015609
Review for gene: PER3 was set to RED
Added comment: A haplotype (P415A and H417R) segregating in a single family and common in gnomAD (0.5%).
Sources: Literature
Deafness_IsolatedAndComplex v1.328 Bryony Thompson Copied gene PDE1C from panel Mendeliome
Deafness_IsolatedAndComplex v1.328 PDE1C Bryony Thompson gene: PDE1C was added
gene: PDE1C was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PDE1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE1C were set to 29860631
Phenotypes for gene: PDE1C were set to autosomal dominant nonsyndromic hearing loss MONDO:0019587
Mendeliome v1.4379 PDE1C Bryony Thompson gene: PDE1C was added
gene: PDE1C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDE1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE1C were set to 29860631
Phenotypes for gene: PDE1C were set to autosomal dominant nonsyndromic hearing loss MONDO:0019587
Review for gene: PDE1C was set to RED
Added comment: A single family reported.
Sources: Literature
Deafness_IsolatedAndComplex v1.327 Bryony Thompson Copied gene PI4KB from panel Mendeliome
Deafness_IsolatedAndComplex v1.327 PI4KB Bryony Thompson gene: PI4KB was added
gene: PI4KB was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PI4KB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PI4KB were set to 33358777
Phenotypes for gene: PI4KB were set to hearing loss, autosomal dominant 87 MONDO:0859525
Mendeliome v1.4378 PI4KB Bryony Thompson Classified gene: PI4KB as Green List (high evidence)
Mendeliome v1.4378 PI4KB Bryony Thompson Gene: pi4kb has been classified as Green List (High Evidence).
Mendeliome v1.4377 PI4KB Bryony Thompson gene: PI4KB was added
gene: PI4KB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PI4KB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PI4KB were set to 33358777
Phenotypes for gene: PI4KB were set to hearing loss, autosomal dominant 87 MONDO:0859525
Review for gene: PI4KB was set to GREEN
Added comment: A missense variant (p.Gln121Arg) segregating in a family and 3 other missense variants (p.Val434Gly, p.Glu667Lys, p.Met739Arg) were identified in 5 unrelated "sporadic" cases. All 4 missense variants were overexpressed in zebrafish embryos, resulting in impaired hearing function, and a null zebrafish model had inner ear abnormalities and audiosensory impairment. Missense showed to have dominant negative effects.
Sources: Literature
Mendeliome v1.4376 MARK3 Bryony Thompson Marked gene: MARK3 as ready
Mendeliome v1.4376 MARK3 Bryony Thompson Gene: mark3 has been classified as Red List (Low Evidence).
Mendeliome v1.4376 MARK3 Bryony Thompson gene: MARK3 was added
gene: MARK3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MARK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARK3 were set to 29771303
Phenotypes for gene: MARK3 were set to visual impairment and progressive phthisis bulbi MONDO:0032655
Review for gene: MARK3 was set to RED
Added comment: A single consanguineous family with a homozygous variant and a supporting drosphila model.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.200 Bryony Thompson Copied gene NRIP1 from panel Mendeliome
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.200 NRIP1 Bryony Thompson gene: NRIP1 was added
gene: NRIP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRIP1 were set to 28381549; 34525250
Phenotypes for gene: NRIP1 were set to congenital anomalies of kidney and urinary tract 3 MONDO:0032646
Mendeliome v1.4375 NRIP1 Bryony Thompson Marked gene: NRIP1 as ready
Mendeliome v1.4375 NRIP1 Bryony Thompson Gene: nrip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4375 NRIP1 Bryony Thompson Classified gene: NRIP1 as Amber List (moderate evidence)
Mendeliome v1.4375 NRIP1 Bryony Thompson Gene: nrip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4374 NRIP1 Bryony Thompson gene: NRIP1 was added
gene: NRIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRIP1 were set to 28381549; 34525250
Phenotypes for gene: NRIP1 were set to congenital anomalies of kidney and urinary tract 3 MONDO:0032646
Review for gene: NRIP1 was set to AMBER
Added comment: 2 families segregating 2 different truncating variants, with incomplete penetrance (1 unaffected carrier). Also, a supporting mouse model. Another case reported with a missense variant inherited from the unaffected mother.
Sources: Literature
Mendeliome v1.4373 Bryony Thompson Copied gene SALL2 from panel Anophthalmia_Microphthalmia_Coloboma
Mendeliome v1.4373 SALL2 Bryony Thompson gene: SALL2 was added
gene: SALL2 was added to Mendeliome. Sources: Expert Review Red,Other
Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SALL2 were set to 24412933
Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive, MIM#16820
Infertility and Recurrent Pregnancy Loss v1.101 Bryony Thompson Copied gene BRDT from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.101 BRDT Bryony Thompson gene: BRDT was added
gene: BRDT was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: BRDT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRDT were set to 32469048; 28199965; 22922464
Phenotypes for gene: BRDT were set to Spermatogenic failure MONDO:0004983
Mendeliome v1.4372 BRDT Bryony Thompson Marked gene: BRDT as ready
Mendeliome v1.4372 BRDT Bryony Thompson Gene: brdt has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4372 BRDT Bryony Thompson Classified gene: BRDT as Amber List (moderate evidence)
Mendeliome v1.4372 BRDT Bryony Thompson Gene: brdt has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4371 BRDT Bryony Thompson gene: BRDT was added
gene: BRDT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BRDT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRDT were set to 32469048; 28199965; 22922464
Phenotypes for gene: BRDT were set to Spermatogenic failure MONDO:0004983
Review for gene: BRDT was set to AMBER
Added comment: 2 cases with 2 different homozygous missense (one with a suggestive gain-of-function mechanism - G928D). A null mouse model had meiotic arrest of spermatogenesis.
Sources: Literature
Macular Dystrophy/Stargardt Disease v0.57 Bryony Thompson Copied gene MAPKAPK3 from panel Mendeliome
Macular Dystrophy/Stargardt Disease v0.57 MAPKAPK3 Bryony Thompson gene: MAPKAPK3 was added
gene: MAPKAPK3 was added to Macular Dystrophy/Stargardt Disease. Sources: Literature
Mode of inheritance for gene: MAPKAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPKAPK3 were set to 26744326
Phenotypes for gene: MAPKAPK3 were set to patterned macular dystrophy 3 MONDO:0014920
Mendeliome v1.4370 MAPKAPK3 Bryony Thompson gene: MAPKAPK3 was added
gene: MAPKAPK3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPKAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPKAPK3 were set to 26744326
Phenotypes for gene: MAPKAPK3 were set to patterned macular dystrophy 3 MONDO:0014920
Review for gene: MAPKAPK3 was set to RED
Added comment: A single family reported, and a supporting mouse model
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.100 Bryony Thompson Copied gene TAF4B from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.100 TAF4B Bryony Thompson gene: TAF4B was added
gene: TAF4B was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: TAF4B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF4B were set to 24431330; 15774719
Phenotypes for gene: TAF4B were set to spermatogenic failure MONDO:0004983
Incidentalome v0.425 Bryony Thompson Copied gene HOXB13 from panel Prostate Cancer
Incidentalome v0.425 HOXB13 Bryony Thompson gene: HOXB13 was added
gene: HOXB13 was added to Incidentalome. Sources: Expert Review Green,Literature,Expert Review,Expert list
Mode of inheritance for gene: HOXB13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXB13 were set to PMID: 22236224, 30730552, 38766261
Phenotypes for gene: HOXB13 were set to Prostate cancer, MONDO:0008315; Prostate cancer, susceptibility to, MIM#610997
Mendeliome v1.4369 TAF4B Bryony Thompson gene: TAF4B was added
gene: TAF4B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAF4B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF4B were set to 24431330; 15774719
Phenotypes for gene: TAF4B were set to spermatogenic failure MONDO:0004983
Review for gene: TAF4B was set to RED
Added comment: A single family reported and a supporting mouse model.
Sources: Literature
Cataract v0.627 Bryony Thompson Copied gene CRYBA2 from panel Mendeliome
Cataract v0.627 CRYBA2 Bryony Thompson gene: CRYBA2 was added
gene: CRYBA2 was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CRYBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBA2 were set to 23508780; 37438446; 21212184; 38909969; 34014271; 28450710
Phenotypes for gene: CRYBA2 were set to cataract MONDO:0005129
Mendeliome v1.4368 CRYBA2 Bryony Thompson Marked gene: CRYBA2 as ready
Mendeliome v1.4368 CRYBA2 Bryony Thompson Gene: cryba2 has been classified as Green List (High Evidence).
Mendeliome v1.4368 CRYBA2 Bryony Thompson Classified gene: CRYBA2 as Green List (high evidence)
Mendeliome v1.4368 CRYBA2 Bryony Thompson Gene: cryba2 has been classified as Green List (High Evidence).
Mendeliome v1.4367 CRYBA2 Bryony Thompson gene: CRYBA2 was added
gene: CRYBA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRYBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBA2 were set to 23508780; 37438446; 21212184; 38909969; 34014271; 28450710
Phenotypes for gene: CRYBA2 were set to cataract MONDO:0005129
Review for gene: CRYBA2 was set to GREEN
Added comment: 5 reported families/cases with missense variants, 3 families segregating variants with incomplete penetrance. Also, a supporting mouse model
Sources: Literature
Mendeliome v1.4366 Bryony Thompson Copied gene MMP14 from panel Skeletal dysplasia
Mendeliome v1.4366 MMP14 Bryony Thompson gene: MMP14 was added
gene: MMP14 was added to Mendeliome. Sources: Expert Review Amber
Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP14 were set to 29741626; 22922033; 10520996
Phenotypes for gene: MMP14 were set to Winchester syndrome 277950
Skeletal dysplasia v0.415 MMP14 Bryony Thompson Marked gene: MMP14 as ready
Skeletal dysplasia v0.415 MMP14 Bryony Thompson Gene: mmp14 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.415 MMP14 Bryony Thompson Publications for gene: MMP14 were set to 22922033
Skeletal dysplasia v0.414 MMP14 Bryony Thompson Classified gene: MMP14 as Amber List (moderate evidence)
Skeletal dysplasia v0.414 MMP14 Bryony Thompson Gene: mmp14 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.413 MMP14 Bryony Thompson reviewed gene: MMP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 29741626, 22922033, 10520996; Phenotypes: multicentric osteolysis-nodulosis-arthropathy spectrum MONDO:0018298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4365 P4HA2 Bryony Thompson Classified gene: P4HA2 as Green List (high evidence)
Mendeliome v1.4365 P4HA2 Bryony Thompson Gene: p4ha2 has been classified as Green List (High Evidence).
Mendeliome v1.4364 P4HA2 Bryony Thompson gene: P4HA2 was added
gene: P4HA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: P4HA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HA2 were set to 25741866
Phenotypes for gene: P4HA2 were set to myopia MONDO:0001384
Review for gene: P4HA2 was set to GREEN
Added comment: At least 6 families reported with nonsyndromic myopia.
Sources: Literature
Mendeliome v1.4363 ITPR2 Bryony Thompson Marked gene: ITPR2 as ready
Mendeliome v1.4363 ITPR2 Bryony Thompson Gene: itpr2 has been classified as Red List (Low Evidence).
Mendeliome v1.4363 ITPR2 Bryony Thompson gene: ITPR2 was added
gene: ITPR2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ITPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPR2 were set to 25329695
Phenotypes for gene: ITPR2 were set to isolated anhidrosis with normal sweat glands MONDO:0007118
Review for gene: ITPR2 was set to RED
Added comment: A single family reported and a supporting mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.99 Bryony Thompson Copied gene SSX1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.99 SSX1 Bryony Thompson gene: SSX1 was added
gene: SSX1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SSX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SSX1 were set to 36796361
Phenotypes for gene: SSX1 were set to spermatogenic failure, X-linked, 5 MONDO:085947
Mendeliome v1.4362 SSX1 Bryony Thompson Marked gene: SSX1 as ready
Mendeliome v1.4362 SSX1 Bryony Thompson Gene: ssx1 has been classified as Green List (High Evidence).
Mendeliome v1.4362 SSX1 Bryony Thompson Classified gene: SSX1 as Green List (high evidence)
Mendeliome v1.4362 SSX1 Bryony Thompson Gene: ssx1 has been classified as Green List (High Evidence).
Mendeliome v1.4361 SSX1 Bryony Thompson gene: SSX1 was added
gene: SSX1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SSX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SSX1 were set to 36796361
Phenotypes for gene: SSX1 were set to spermatogenic failure, X-linked, 5 MONDO:085947
Review for gene: SSX1 was set to GREEN
Added comment: At least 6 unrelated men with hemizygous variants and a supporting mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.98 Bryony Thompson Copied gene CT55 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.98 CT55 Bryony Thompson gene: CT55 was added
gene: CT55 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: CT55 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CT55 were set to 36481789
Phenotypes for gene: CT55 were set to Spermatogenic failure MONDO:0004983
Mendeliome v1.4360 CT55 Bryony Thompson gene: CT55 was added
gene: CT55 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CT55 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CT55 were set to 36481789
Phenotypes for gene: CT55 were set to Spermatogenic failure MONDO:0004983
Review for gene: CT55 was set to RED
Added comment: 2 Chinese brothers with infertility, hemizygous for a nonsense variant and supporting mouse model.
Sources: Literature
Deafness_IsolatedAndComplex v1.326 Bryony Thompson Copied gene GPRASP2 from panel Mendeliome
Deafness_IsolatedAndComplex v1.326 GPRASP2 Bryony Thompson gene: GPRASP2 was added
gene: GPRASP2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: GPRASP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPRASP2 were set to 28096187; 41688572
Phenotypes for gene: GPRASP2 were set to X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702
Mendeliome v1.4359 GPRASP2 Bryony Thompson Marked gene: GPRASP2 as ready
Mendeliome v1.4359 GPRASP2 Bryony Thompson Gene: gprasp2 has been classified as Red List (Low Evidence).
Mendeliome v1.4359 GPRASP2 Bryony Thompson gene: GPRASP2 was added
gene: GPRASP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPRASP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPRASP2 were set to 28096187; 41688572
Phenotypes for gene: GPRASP2 were set to X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702
Review for gene: GPRASP2 was set to RED
Added comment: A single family reported segregating a hemizygous delins with deafness and a supporting deficient mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.97 Bryony Thompson Copied gene ADGRG2 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.97 ADGRG2 Bryony Thompson gene: ADGRG2 was added
gene: ADGRG2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ADGRG2 was set to Other
Publications for gene: ADGRG2 were set to 15367682; 27476656
Phenotypes for gene: ADGRG2 were set to congenital bilateral absence of vas deferens MONDO:0018801
Mendeliome v1.4358 ADGRG2 Bryony Thompson Marked gene: ADGRG2 as ready
Mendeliome v1.4358 ADGRG2 Bryony Thompson Gene: adgrg2 has been classified as Green List (High Evidence).
Mendeliome v1.4358 ADGRG2 Bryony Thompson Classified gene: ADGRG2 as Green List (high evidence)
Mendeliome v1.4358 ADGRG2 Bryony Thompson Gene: adgrg2 has been classified as Green List (High Evidence).
Mendeliome v1.4357 ADGRG2 Bryony Thompson gene: ADGRG2 was added
gene: ADGRG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADGRG2 was set to Other
Publications for gene: ADGRG2 were set to 15367682; 27476656
Phenotypes for gene: ADGRG2 were set to congenital bilateral absence of vas deferens MONDO:0018801
Review for gene: ADGRG2 was set to GREEN
Added comment: At least 4 men reported with hemizygous LoF variants and CBAVD. Supporting mouse model. The gene appears to have no biological relevance in women.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.96 INSL3 Zornitza Stark Marked gene: INSL3 as ready
Infertility and Recurrent Pregnancy Loss v1.96 INSL3 Zornitza Stark Gene: insl3 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.96 Zornitza Stark Copied gene INSL3 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.96 INSL3 Zornitza Stark gene: INSL3 was added
gene: INSL3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INSL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSL3 were set to 12601553; 12970298; 11095425; 41369823; 37208861; 33095795
Phenotypes for gene: INSL3 were set to Cryptorchidism, MIM# 219050; Infertility disorder MONDO:0005047, INSL3-related
Mendeliome v1.4356 INSL3 Zornitza Stark Phenotypes for gene: INSL3 were changed from Cryptorchidism, MIM# 219050 to Cryptorchidism, MIM# 219050; Infertility disorder MONDO:0005047, INSL3-related
Mendeliome v1.4355 INSL3 Zornitza Stark Publications for gene: INSL3 were set to 12601553; 12970298; 11095425
Mendeliome v1.4354 INSL3 Zornitza Stark Mode of inheritance for gene: INSL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4353 INSL3 Zornitza Stark Classified gene: INSL3 as Green List (high evidence)
Mendeliome v1.4353 INSL3 Zornitza Stark Gene: insl3 has been classified as Green List (High Evidence).
Mendeliome v1.4352 INSL3 Zornitza Stark changed review comment from: Note some of the reported variants have relatively high population frequencies in gnomad, unclear if this is monogenic.; to: Initial association reported for mono-allelic variants: Note some of the reported variants have relatively high population frequencies in gnomad, unclear if this is monogenic.
Mendeliome v1.4352 INSL3 Zornitza Stark edited their review of gene: INSL3: Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4352 INSL3 Zornitza Stark edited their review of gene: INSL3: Added comment: PMID 33095795 reports a single individual with a homozygous missense variant c.52G>A p.V18M. Mouse knock‑out studies showed disrupted female cycles and reduced litter size; Changed publications: 12601553, 12970298, 11095425, 41369823, 37208861, 33095795; Changed phenotypes: Cryptorchidism, MIM# 219050, Infertility disorder MONDO:0005047, INSL3-related
Mendeliome v1.4352 INSL3 Zornitza Stark edited their review of gene: INSL3: Added comment: PMID 37208861 reports a single individual with a homozygous frameshift loss‑of‑function variant c.143dupG (p.Arg50Profs*16) presenting with bilateral cryptorchidism diagnosed at birth, early orchidopexy, severe male infertility (non‑obstructive azoospermia, Sertoli‑cell‑only phenotype) and additional features (hypertonia, severe hearing loss, red‑green visual impairment). Functional impact demonstrated by absent INSL3 immunostaining in Leydig cells and undetectable serum INSL3 levels. Additional phenotypic features unlikely explained by INSL3 variant.; Changed publications: 12601553, 12970298, 11095425, 41369823, 37208861
Mendeliome v1.4352 INSL3 Zornitza Stark edited their review of gene: INSL3: Added comment: PMID 41369823 reports two unrelated Chinese Han individuals with homozygous frameshift INSL3 variants presenting with bilateral cryptorchidism, testicular atrophy, azoospermia and elevated FSH/LH. Functional assays (Western blot, immunofluorescence, Co‑IP) showed truncated proteins and loss of RXFP2 interaction; structural modelling predicted abnormal protein conformation; Changed publications: 12601553, 12970298, 11095425, 41369823
Mendeliome v1.4352 IGSF10 Zornitza Stark Publications for gene: IGSF10 were set to 27137492; 31042289; 40700020
Mendeliome v1.4351 IGSF10 Zornitza Stark Mode of inheritance for gene: IGSF10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4350 IGSF10 Zornitza Stark edited their review of gene: IGSF10: Added comment: PMID 31200363: two individuals from unrelated families with bi-allelic variants and hypogonadotropic hypogonadism.
PMID 33208564: single individual with mono-allelic LoF variant and hypogonadotropic hypogonadism.

Still a mixture of MOIs reported, little supportive data, some of the variants postulated to be associated with dominant disease have high pop frequencies.; Changed publications: 27137492, 31042289, 40700020, 31200363, 33208564
Dystonia and Chorea v0.340 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Dystonia and Chorea v0.340 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.340 EPG5 Zornitza Stark Classified gene: EPG5 as Green List (high evidence)
Dystonia and Chorea v0.340 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.339 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Dystonia and Chorea. Sources: Literature
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 41053928; 36410285; 40192014
Phenotypes for gene: EPG5 were set to Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506
Review for gene: EPG5 was set to GREEN
Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy. PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.670 EPG5 Zornitza Stark Publications for gene: EPG5 were set to 23222957; 26917586
Intellectual disability syndromic and non-syndromic v1.669 EPG5 Zornitza Stark edited their review of gene: EPG5: Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy. PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.; Changed publications: 23222957, 26917586, 41053928, 36410285, 40192014; Changed phenotypes: Vici syndrome, MIM# 242840, Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506
Lysosomal Storage Disorder v1.29 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Lysosomal Storage Disorder v1.29 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.29 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Disorders of autophagy; Vici syndrome MONDO:0009452 to Disorders of autophagy; Vici syndrome MONDO:0009452; Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506
Lysosomal Storage Disorder v1.28 EPG5 Zornitza Stark Publications for gene: EPG5 were set to 33674710; 34130600; 29884839
Lysosomal Storage Disorder v1.27 EPG5 Zornitza Stark reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41053928, 36410285, 40192014; Phenotypes: Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4350 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, MIM# 242840 to Vici syndrome, MIM# 242840; Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506
Mendeliome v1.4349 EPG5 Zornitza Stark Publications for gene: EPG5 were set to 23222957; 26917586
Mendeliome v1.4348 EPG5 Zornitza Stark edited their review of gene: EPG5: Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy.

PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.; Changed publications: 23222957, 26917586, 41053928, 36410285, 40192014; Changed phenotypes: Vici syndrome, MIM# 242840, Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506
Infertility and Recurrent Pregnancy Loss v1.95 HNRNPR Lucy Spencer Phenotypes for gene: HNRNPR were changed from Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related to Spermatogenic failure (MONDO:0004983), HNRNPR-related
Infertility and Recurrent Pregnancy Loss v1.94 HNRNPR Lucy Spencer Publications for gene: HNRNPR were set to 26795593; 31079900; 41618099
Infertility and Recurrent Pregnancy Loss v1.93 HNRNPR Lucy Spencer Mode of inheritance for gene: HNRNPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.92 HNRNPR Lucy Spencer Classified gene: HNRNPR as Amber List (moderate evidence)
Infertility and Recurrent Pregnancy Loss v1.92 HNRNPR Lucy Spencer Gene: hnrnpr has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.91 Lucy Spencer Copied gene HNRNPR from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.91 HNRNPR Lucy Spencer gene: HNRNPR was added
gene: HNRNPR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: HNRNPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HNRNPR were set to 26795593; 31079900; 41618099
Phenotypes for gene: HNRNPR were set to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related
Mendeliome v1.4348 HNRNPR Lucy Spencer Mode of inheritance for gene: HNRNPR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4347 HNRNPR Lucy Spencer Publications for gene: HNRNPR were set to 26795593; 31079900
Mendeliome v1.4346 HNRNPR Lucy Spencer Phenotypes for gene: HNRNPR were changed from Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related
Mendeliome v1.4345 HNRNPR Lucy Spencer reviewed gene: HNRNPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 41618099; Phenotypes: Spermatogenic failure (MONDO:0004983), HNRNPR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.83 Sarah Milton Added reviews for gene SSR3 from panel Mendeliome
Mendeliome v1.4345 SSR3 Sarah Milton reviewed gene: SSR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32332102; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, SSR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Neurological Conditions v21.437 Bryony Thompson Changed child panels to: Early-onset Parkinson disease; Brain Calcification; Genetic Epilepsy; Ataxia; Hereditary Neuropathy; Hereditary Spastic Paraplegia; Congenital Disorders of Glycosylation; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Miscellaneous Metabolic Disorders; Early-onset Dementia; Motor Neurone Disease; Rhabdomyolysis and Metabolic Myopathy; Lysosomal Storage Disorder; Mitochondrial disease; Fatty Acid Oxidation Defects; Cerebral vascular malformations; Neurotransmitter Defects; Brain Channelopathies; Glycogen Storage Diseases; Neurodegeneration with brain iron accumulation; Leukodystrophy; Dystonia and Chorea; Peroxisomal Disorders; Metal Metabolism Disorders; Pain syndromes
Neuromuscular Superpanel v4.368 Bryony Thompson Changed child panels to: Ataxia; Hereditary Neuropathy; Hereditary Spastic Paraplegia; Muscular dystrophy and myopathy_Paediatric; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Motor Neurone Disease; Rhabdomyolysis and Metabolic Myopathy; Gastrointestinal neuromuscular disease; Congenital Myasthenia; Arthrogryposis; Skeletal Muscle Channelopathies
Arrhythmogenic Cardiomyopathy v0.76 DSG2 Leah Frajman changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state.

Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state.

Two additional families have been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).
Intellectual disability syndromic and non-syndromic v1.669 NLGN3 Lucy Spencer Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425
Autism v0.246 NLGN3 Lucy Spencer Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425
Arrhythmogenic Cardiomyopathy v0.76 DSG2 Leah Frajman changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state.

Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state.

Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).
Arrhythmogenic Cardiomyopathy v0.76 DSG2 Leah Frajman changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state.

Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state.

Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).
Arrhythmogenic Cardiomyopathy v0.76 DSG2 Leah Frajman reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39253717, 30454721, 33917638; Phenotypes: Arrhythmogenic right ventricular dysplasia 10 (MIM#610193); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4345 NLGN3 Lucy Spencer Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425
Mendeliome v1.4344 CCDC141 Zornitza Stark Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related
Mendeliome v1.4343 CCDC141 Zornitza Stark Mode of inheritance for gene: CCDC141 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.424 SCN5A Lucy Spencer Phenotypes for gene: SCN5A were changed from Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154 to Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154; SCN5A-related cardiac rhythm disorder MONDO:1010181
Cardiac conduction disease v1.6 SCN5A Lucy Spencer reviewed gene: SCN5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: SCN5A-related cardiac rhythm disorder MONDO:1010181; Mode of inheritance: None
Severe early-onset obesity v1.28 ADCY3 Zornitza Stark Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637
Severe early-onset obesity v1.27 ADCY3 Zornitza Stark Classified gene: ADCY3 as Green List (high evidence)
Severe early-onset obesity v1.27 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.26 ADCY3 Zornitza Stark edited their review of gene: ADCY3: Added comment: PMID 39519366: reports a single consanguineous Pakistani family with a 4‑year‑old girl who presented with early‑onset severe obesity, hyperphagia, insulin resistance (acanthosis nigricans), and mild hepatomegaly. Exome‑panel sequencing identified a novel homozygous nonsense variant c.2520C>G (p.Thr840X). In vitro assays in 3T3‑L1 cells demonstrated markedly reduced CRE/SRE‑luciferase activity, lower cAMP production, increased lipid accumulation, and diminished lipolysis for the mutant protein, while structural modelling showed loss of the intracellular G‑protein‑binding segment.; Changed rating: GREEN; Changed publications: 11055432, 29311636, 29311637, 39519366
Cardiac conduction disease v1.6 SCN5A Lucy Spencer Phenotypes for gene: SCN5A were changed from progressive familial heart block MONDO:0019490 to progressive familial heart block MONDO:0019490; SCN5A-related cardiac rhythm disorder MONDO:1010181
Mendeliome v1.4342 ADCY3 Zornitza Stark Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637
Mendeliome v1.4341 ADCY3 Zornitza Stark Classified gene: ADCY3 as Green List (high evidence)
Mendeliome v1.4341 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Green List (High Evidence).
Mendeliome v1.4340 ADCY3 Zornitza Stark reviewed gene: ADCY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39519366; Phenotypes: {Obesity, susceptibility to, BMIQ19} MIM#617885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v1.10 Sarah Milton Copied Region PITX2 upstream regulatory region from panel Mendeliome
Glaucoma congenital v1.10 PITX2 upstream regulatory region Sarah Milton Region: PITX2 upstream regulatory region was added
Region: PITX2 upstream regulatory region was added to Glaucoma congenital. Sources: Literature
SV/CNV tags were added to Region: PITX2 upstream regulatory region.
Mode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756
Phenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187
Eye Anterior Segment Abnormalities v1.19 Sarah Milton Copied Region PITX2 upstream regulatory region from panel Mendeliome
Eye Anterior Segment Abnormalities v1.19 PITX2 upstream regulatory region Sarah Milton Region: PITX2 upstream regulatory region was added
Region: PITX2 upstream regulatory region was added to Eye Anterior Segment Abnormalities. Sources: Literature
SV/CNV tags were added to Region: PITX2 upstream regulatory region.
Mode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756
Phenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187
Mendeliome v1.4340 PITX2 upstream regulatory region Sarah Milton Region: PITX2 upstream regulatory region was added
Region: PITX2 upstream regulatory region was added to Mendeliome. Sources: Literature
SV/CNV tags were added to Region: PITX2 upstream regulatory region.
Mode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756
Phenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187
Review for Region: PITX2 upstream regulatory region was set to GREEN
Added comment: PITX2 encodes a homeodomain containing transcription factor.

There have been over 5 affected individuals across a number of publications with deletions in an agenic region approx 150kb upstream of PITX2 presenting with an Axenfeld Rieger phenotype.
There have also been reports of individuals with balanced translocations transecting the region on 4p with a similar phenotype.

Functional studies have interrogated this region identifying 11 conserved elements that are thought to represent enhancers. Zebrafish studies were performed by Volkmann et al with varying sized deletions in the region showing an effect on PITX2 gene expression.
Protas et al used a zebrafish model modified by CRISPR/Cas9 to delete an orthologous region similar to that seen in an affected individual. This resulted in recapitulation of the phenotype.

Note coordinates may not be precise (smaller deletions have been reported to cause disease).
Sources: Literature
Fetal anomalies v1.533 FGD5 Krithika Murali Phenotypes for gene: FGD5 were changed from tetralogy of fallot MONDO:0008542 to Congenital heart disease - MONDO:0005453, FGD5-related
Fetal anomalies v1.532 FGD5 Krithika Murali Publications for gene: FGD5 were set to 32037394; 30232381
Fetal anomalies v1.531 FGD5 Krithika Murali Classified gene: FGD5 as Amber List (moderate evidence)
Fetal anomalies v1.531 FGD5 Krithika Murali Gene: fgd5 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.528 FGD5 Krithika Murali Phenotypes for gene: FGD5 were changed from Congenital heart disease - MONDO:0005453, FGD5-related to Congenital heart disease - MONDO:0005453, FGD5-related
Congenital Heart Defect v0.527 FGD5 Krithika Murali Phenotypes for gene: FGD5 were changed from tetralogy of fallot MONDO:0008542 to Congenital heart disease - MONDO:0005453, FGD5-related
Congenital Heart Defect v0.527 FGD5 Krithika Murali Publications for gene: FGD5 were set to 41574350; 41199744; 32037394; 30232381
Congenital Heart Defect v0.526 FGD5 Krithika Murali Publications for gene: FGD5 were set to 32037394; 30232381
Congenital Heart Defect v0.526 FGD5 Krithika Murali Classified gene: FGD5 as Amber List (moderate evidence)
Congenital Heart Defect v0.526 FGD5 Krithika Murali Gene: fgd5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.530 Krithika Murali Added reviews for gene FGD5 from panel Mendeliome
Mendeliome v1.4339 FGD5 Krithika Murali Phenotypes for gene: FGD5 were changed from tetralogy of fallot MONDO:0008542 to Congenital heart disease - MONDO:0005453, FGD5-related
Mendeliome v1.4338 FGD5 Krithika Murali Publications for gene: FGD5 were set to 32037394; 30232381
Fetal anomalies v1.529 Krithika Murali Copied gene FGD5 from panel Mendeliome
Fetal anomalies v1.529 FGD5 Krithika Murali gene: FGD5 was added
gene: FGD5 was added to Fetal anomalies. Sources: Expert Review Red,Literature
Mode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGD5 were set to 32037394; 30232381
Phenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542
Congenital Heart Defect v0.525 Krithika Murali Added reviews for gene FGD5 from panel Mendeliome
Mendeliome v1.4337 FGD5 Krithika Murali Classified gene: FGD5 as Amber List (moderate evidence)
Mendeliome v1.4337 FGD5 Krithika Murali Gene: fgd5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4336 FGD5 Krithika Murali reviewed gene: FGD5: Rating: AMBER; Mode of pathogenicity: None; Publications: 41574350, 41199744, 32037394, 30232381; Phenotypes: Congenital heart disease - MONDO:0005453, FGD5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.668 FSCN1 Lilian Downie reviewed gene: FSCN1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 40874942; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4336 RNF213 Michelle Torres changed review comment from: The well-know East Asian founder variant, p.(Arg4810Lys) (aka p.(Arg4859Lys)), has been reported in multiple homozygous individuals with moyamoya disease. In a Japanese cohort, homozygous individuals had a significantly earlier age at onset compared with heterozygotes (PMID: 22377813).

The evidence for AR as a MOI in association with other variants is not convincing (PMIDs: 30922903, 33960657).; to: The well-know East Asian founder variant, p.(Arg4810Lys) (aka p.(Arg4859Lys)), has been reported in multiple homozygous individuals with moyamoya disease. In a Japanese cohort, homozygous individuals had a significantly earlier age at onset compared with heterozygotes (PMID: 22377813).

The evidence for AR as a MOI in association with other variants is not convincing (PMIDs: 30922903, 33960657).

*Specific MONDO for this gene is Moyamoya disease 2 (MONDO:0011784).
Mendeliome v1.4336 RNF213 Michelle Torres reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: 22377813, 30922903, 33960657; Phenotypes: Moyamoya disease 2, susceptibility to MIM#607151; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v1.74 NME5 Lucy Spencer Phenotypes for gene: NME5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032
Deafness_IsolatedAndComplex v1.325 TBC1D8 Sangavi Sivagnanasundram Mode of inheritance for gene: TBC1D8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.73 NME5 Lucy Spencer Publications for gene: NME5 were set to PMID: 32185794
Deafness_IsolatedAndComplex v1.324 TBC1D8 Sangavi Sivagnanasundram Phenotypes for gene: TBC1D8 were changed from Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372 to non-syndromic hearing loss MONDO:0019587
Ciliary Dyskinesia v1.72 NME5 Lucy Spencer Classified gene: NME5 as Green List (high evidence)
Ciliary Dyskinesia v1.72 NME5 Lucy Spencer Gene: nme5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.323 TBC1D8 Sangavi Sivagnanasundram Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793
Deafness_IsolatedAndComplex v1.322 TBC1D8 Sangavi Sivagnanasundram Classified gene: TBC1D8 as Red List (low evidence)
Deafness_IsolatedAndComplex v1.322 TBC1D8 Sangavi Sivagnanasundram Gene: tbc1d8 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.321 TBC1D8 Sangavi Sivagnanasundram edited their review of gene: TBC1D8: Changed rating: RED; Changed publications: 35248088; Changed phenotypes: non-syndromic hearing loss MONDO:0019587; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v1.90 TBC1D8 Sangavi Sivagnanasundram Phenotypes for gene: TBC1D8 were changed from Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372 to non obstructive azoospermia or cryptozoospermia MONDO:0005372
Deafness_IsolatedAndComplex v1.321 Sangavi Sivagnanasundram Copied gene TBC1D8 from panel Mendeliome
Deafness_IsolatedAndComplex v1.321 TBC1D8 Sangavi Sivagnanasundram gene: TBC1D8 was added
gene: TBC1D8 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TBC1D8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793
Phenotypes for gene: TBC1D8 were set to Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372
Infertility and Recurrent Pregnancy Loss v1.89 TBC1D8 Sangavi Sivagnanasundram Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793
Infertility and Recurrent Pregnancy Loss v1.88 TBC1D8 Sangavi Sivagnanasundram Mode of inheritance for gene: TBC1D8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.87 TBC1D8 Sangavi Sivagnanasundram edited their review of gene: TBC1D8: Changed publications: 41556581; Changed phenotypes: non obstructive azoospermia or cryptozoospermia MONDO:0005372; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.87 Sangavi Sivagnanasundram Copied gene TBC1D8 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.87 TBC1D8 Sangavi Sivagnanasundram gene: TBC1D8 was added
gene: TBC1D8 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TBC1D8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793
Phenotypes for gene: TBC1D8 were set to Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372
Ciliary Dyskinesia v1.71 Lucy Spencer Added reviews for gene NME5 from panel Mendeliome
Mendeliome v1.4336 NME5 Lucy Spencer Phenotypes for gene: NME5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032
Mendeliome v1.4335 NME5 Lucy Spencer Publications for gene: NME5 were set to 32185794
Mendeliome v1.4334 NME5 Lucy Spencer Classified gene: NME5 as Green List (high evidence)
Mendeliome v1.4334 NME5 Lucy Spencer Gene: nme5 has been classified as Green List (High Evidence).
Mendeliome v1.4333 NME5 Lucy Spencer reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32185794, 33635012, 37296588, 37998386, 37957793, 41499646; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4333 TBC1D8 Sangavi Sivagnanasundram Classified gene: TBC1D8 as Green List (high evidence)
Mendeliome v1.4333 TBC1D8 Sangavi Sivagnanasundram Gene: tbc1d8 has been classified as Green List (High Evidence).
Mendeliome v1.4332 TBC1D8 Sangavi Sivagnanasundram Classified gene: TBC1D8 as Green List (high evidence)
Mendeliome v1.4332 TBC1D8 Sangavi Sivagnanasundram Gene: tbc1d8 has been classified as Green List (High Evidence).
Mendeliome v1.4331 TBC1D8 Sangavi Sivagnanasundram gene: TBC1D8 was added
gene: TBC1D8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBC1D8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793
Phenotypes for gene: TBC1D8 were set to Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372
Review for gene: TBC1D8 was set to GREEN
Added comment: GREEN AR - non-obstructive azoospermia or cryptozoospermia
RED AD - Lennox‑Gastaut syndrome and non-syndromic hearing loss

PMID: 41556581 - Two affected unrelated individuals with biallelic variants
Immunofluorescence staining showed decreased protein expression in the testis of the affected individual compared to that of a fertile individual.

PMID:35248088 - AD non-syndromic hearing loss
De novo heterozygous missense variant in one individual presenting with hearing loss
p.Ser666Leu - GrpMax FAF = 0.2%

PMID: 33584793 - AD Lennox‑Gastaut syndrome
12yrM presented with tonic, atonic seizures however had normal MRI
Assumed de novo missense variant identified
Sources: Literature
Mendeliome v1.4330 ATP11C Lucy Spencer Publications for gene: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472
Mendeliome v1.4329 ATP11C Lucy Spencer edited their review of gene: ATP11C: Changed publications: 41523080, 40869043, 37892263, 37671681, 26944472, 37314652
Mendeliome v1.4329 ATP11C Lucy Spencer changed review comment from: PMID: 40869043 reports 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1

PMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad).

PMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes.
Sources: Literature; to: PMID: 40869043 reports 4 patients from 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1. Studies in patient RBS for all 4 patients showed reduced flippase activity.

PMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad).

PMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes.

PMID: 37314652 One hemizygous male with a frameshift in ATP11C and agranulocytosis, recurrent acute liver failure and developmental delay. Previously published mouse models deficient in ATP11C displayed conjugated hyperbilirubinemia, hyperchloremia, and hemolytic anemia.
Sources: Literature
Red cell disorders v1.46 Lucy Spencer Copied gene ATP11C from panel Mendeliome
Red cell disorders v1.46 ATP11C Lucy Spencer gene: ATP11C was added
gene: ATP11C was added to Red cell disorders. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ATP11C 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: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472
Phenotypes for gene: ATP11C were set to Hemolytic anemia, congenital, X-linked MIM#301015
Mendeliome v1.4329 ATP11C Lucy Spencer Classified gene: ATP11C as Amber List (moderate evidence)
Mendeliome v1.4329 ATP11C Lucy Spencer Gene: atp11c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4328 ATP11C Lucy Spencer gene: ATP11C was added
gene: ATP11C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP11C 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: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472
Phenotypes for gene: ATP11C were set to Hemolytic anemia, congenital, X-linked MIM#301015
Review for gene: ATP11C was set to AMBER
Added comment: PMID: 40869043 reports 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1

PMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad).

PMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes.
Sources: Literature
Incidentalome v0.423 Bryony Thompson Copied gene BARD1 from panel Breast Cancer
Incidentalome v0.423 BARD1 Bryony Thompson gene: BARD1 was added
gene: BARD1 was added to Incidentalome. Sources: Expert Review Green,Expert Review,Expert list
Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BARD1 were set to Breast cancer, MONDO:0007254; BARD1-related cancer predisposition, MONDO:0700267; Breast cancer, susceptibility to, MIM#114480
Mendeliome v1.4327 GPR101 Bryony Thompson Marked gene: GPR101 as ready
Mendeliome v1.4327 GPR101 Bryony Thompson Gene: gpr101 has been classified as Green List (High Evidence).
Mendeliome v1.4327 GPR101 Bryony Thompson changed review comment from: Well-established gene-disease association with a GeneReviews. Heterozygous or hemizygous for a germline variant or somatic duplication.
Sources: Literature; to: Well-established gene-disease association with X-Linked Acrogigantism (has a GeneReviews). Heterozygous or hemizygous for a germline variant or somatic duplication.
Sources: Literature
Mendeliome v1.4327 GPR101 Bryony Thompson Classified gene: GPR101 as Green List (high evidence)
Mendeliome v1.4327 GPR101 Bryony Thompson Gene: gpr101 has been classified as Green List (High Evidence).
Mendeliome v1.4326 GPR101 Bryony Thompson gene: GPR101 was added
gene: GPR101 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPR101 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: GPR101 were set to 29389097
Phenotypes for gene: GPR101 were set to pituitary adenoma, growth hormone-secreting, 2 MONDO:0010492
Review for gene: GPR101 was set to GREEN
Added comment: Well-established gene-disease association with a GeneReviews. Heterozygous or hemizygous for a germline variant or somatic duplication.
Sources: Literature
Mendeliome v1.4325 MID2 Bryony Thompson gene: MID2 was added
gene: MID2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MID2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MID2 were set to 24115387
Phenotypes for gene: MID2 were set to non-syndromic X-linked intellectual disability MONDO:0019181
Review for gene: MID2 was set to RED
Added comment: A single family reported
Sources: Literature
Mendeliome v1.4324 HMGB3 Bryony Thompson Marked gene: HMGB3 as ready
Mendeliome v1.4324 HMGB3 Bryony Thompson Gene: hmgb3 has been classified as Red List (Low Evidence).
Mendeliome v1.4324 HMGB3 Bryony Thompson gene: HMGB3 was added
gene: HMGB3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HMGB3 were set to 24993872
Phenotypes for gene: HMGB3 were set to X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0010485
Review for gene: HMGB3 was set to RED
Added comment: A single family reported in 2014, segregating a hemizygous frameshift variant in affected men
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.86 Bryony Thompson Copied gene TTC29 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.86 TTC29 Bryony Thompson gene: TTC29 was added
gene: TTC29 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TTC29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC29 were set to 31735292
Phenotypes for gene: TTC29 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4323 TTC29 Bryony Thompson Marked gene: TTC29 as ready
Mendeliome v1.4323 TTC29 Bryony Thompson Gene: ttc29 has been classified as Green List (High Evidence).
Mendeliome v1.4323 TTC29 Bryony Thompson Classified gene: TTC29 as Green List (high evidence)
Mendeliome v1.4323 TTC29 Bryony Thompson Gene: ttc29 has been classified as Green List (High Evidence).
Mendeliome v1.4322 TTC29 Bryony Thompson gene: TTC29 was added
gene: TTC29 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC29 were set to 31735292
Phenotypes for gene: TTC29 were set to spermatogenic failure MONDO:0004983
Review for gene: TTC29 was set to GREEN
Added comment: 5 unrelated men with infertility and a supporting null mouse model
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.85 Bryony Thompson Copied gene CCDC146 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.85 CCDC146 Bryony Thompson gene: CCDC146 was added
gene: CCDC146 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CCDC146 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC146 were set to 38441556; 39245651
Phenotypes for gene: CCDC146 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4321 CCDC146 Bryony Thompson Marked gene: CCDC146 as ready
Mendeliome v1.4321 CCDC146 Bryony Thompson Gene: ccdc146 has been classified as Green List (High Evidence).
Mendeliome v1.4321 CCDC146 Bryony Thompson Classified gene: CCDC146 as Green List (high evidence)
Mendeliome v1.4321 CCDC146 Bryony Thompson Gene: ccdc146 has been classified as Green List (High Evidence).
Mendeliome v1.4320 CCDC146 Bryony Thompson gene: CCDC146 was added
gene: CCDC146 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC146 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC146 were set to 38441556; 39245651
Phenotypes for gene: CCDC146 were set to spermatogenic failure MONDO:0004983
Review for gene: CCDC146 was set to GREEN
Added comment: 3 males with biallelic variants and a supporting infertile mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.84 Bryony Thompson Copied gene ARMC12 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.84 ARMC12 Bryony Thompson gene: ARMC12 was added
gene: ARMC12 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ARMC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC12 were set to 35534203; 33536340
Phenotypes for gene: ARMC12 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4319 ARMC12 Bryony Thompson Marked gene: ARMC12 as ready
Mendeliome v1.4319 ARMC12 Bryony Thompson Gene: armc12 has been classified as Green List (High Evidence).
Mendeliome v1.4319 ARMC12 Bryony Thompson Classified gene: ARMC12 as Green List (high evidence)
Mendeliome v1.4319 ARMC12 Bryony Thompson Gene: armc12 has been classified as Green List (High Evidence).
Mendeliome v1.4318 ARMC12 Bryony Thompson gene: ARMC12 was added
gene: ARMC12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARMC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC12 were set to 35534203; 33536340
Phenotypes for gene: ARMC12 were set to spermatogenic failure MONDO:0004983
Review for gene: ARMC12 was set to GREEN
Added comment: 3 males from 2 families with hom/chet variants and a supporting null mouse model.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.83 Bryony Thompson Copied gene CFAP61 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.83 CFAP61 Bryony Thompson gene: CFAP61 was added
gene: CFAP61 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CFAP61 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP61 were set to 36659204; 34792097; 35387802; 35174165
Phenotypes for gene: CFAP61 were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4317 CFAP61 Bryony Thompson Marked gene: CFAP61 as ready
Mendeliome v1.4317 CFAP61 Bryony Thompson Gene: cfap61 has been classified as Green List (High Evidence).
Mendeliome v1.4317 CFAP61 Bryony Thompson Classified gene: CFAP61 as Green List (high evidence)
Mendeliome v1.4317 CFAP61 Bryony Thompson Gene: cfap61 has been classified as Green List (High Evidence).
Mendeliome v1.4316 CFAP61 Bryony Thompson gene: CFAP61 was added
gene: CFAP61 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP61 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP61 were set to 36659204; 34792097; 35387802; 35174165
Phenotypes for gene: CFAP61 were set to spermatogenic failure MONDO:0004983
Review for gene: CFAP61 was set to GREEN
Added comment: At least 6 unrelated men with chet/hom variants and a supporting mouse model
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.82 Bryony Thompson Copied gene NUP210L from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.82 NUP210L Bryony Thompson gene: NUP210L was added
gene: NUP210L was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NUP210L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP210L were set to 20034429; 33332558
Phenotypes for gene: NUP210L were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4315 NUP210L Bryony Thompson Marked gene: NUP210L as ready
Mendeliome v1.4315 NUP210L Bryony Thompson Gene: nup210l has been classified as Red List (Low Evidence).
Mendeliome v1.4315 NUP210L Bryony Thompson gene: NUP210L was added
gene: NUP210L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUP210L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP210L were set to 20034429; 33332558
Phenotypes for gene: NUP210L were set to spermatogenic failure MONDO:0004983
Review for gene: NUP210L was set to RED
Added comment: Single case from a consanguineous family and a supporting null mouse model.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.8 PTPN2 Bryony Thompson Marked gene: PTPN2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v1.8 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v1.8 PTPN2 Bryony Thompson Classified gene: PTPN2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v1.8 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v1.7 PTPN2 Bryony Thompson gene: PTPN2 was added
gene: PTPN2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 41545210; 39028869; 39959585
Phenotypes for gene: PTPN2 were set to Inborn error of immunity, MONDO:0003778
Review for gene: PTPN2 was set to GREEN
gene: PTPN2 was marked as current diagnostic
Added comment: 3 cases (2 de novo and 1 likely de novo but father unavailable for testing) with interstitial lung disease as a feature of the phenotype. Variants are associated with reduced PTPN2 expression.
Sources: Literature
Mendeliome v1.4314 PTPN2 Bryony Thompson Publications for gene: PTPN2 were set to 32499645; 27658548; 39028869
Mendeliome v1.4313 PTPN2 Bryony Thompson edited their review of gene: PTPN2: Added comment: 2 consanguineous cases with homozygous missense variants in PTPN2 (heterozygous individuals unaffected). Phenotypes differ between common variable immunodeficiency with bronchiectasis, or early‑onset Crohn disease with growth failure and neurodevelopmental delay.; Changed rating: RED; Changed publications: 37537852, 35389161; Changed phenotypes: Inborn error of immunity, MONDO:0003778, Syndromic disease, MONDO:0002254; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Motor Neurone Disease v1.42 RAPGEF2 Bryony Thompson Marked gene: RAPGEF2 as ready
Motor Neurone Disease v1.42 RAPGEF2 Bryony Thompson Gene: rapgef2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v1.42 RAPGEF2 Bryony Thompson Classified gene: RAPGEF2 as Red List (low evidence)
Motor Neurone Disease v1.42 RAPGEF2 Bryony Thompson Gene: rapgef2 has been classified as Red List (Low Evidence).
Motor Neurone Disease v1.41 RAPGEF2 Bryony Thompson changed review comment from: Red for ALS & green for neurodevelopmental disorder
PMID: 30636905 - single individual with early‑onset ALS and a de novo missense gain‑of‑function variant
PMID: 41556274 - 5 unrelated individuals with a childhood‑onset neurodevelopmental disorder with de novo likely haploinsufficient loss‑of‑function variants.; to: A single individual with early‑onset ALS and a de novo missense gain‑of‑function variant
Motor Neurone Disease v1.41 RAPGEF2 Bryony Thompson edited their review of gene: RAPGEF2: Changed rating: RED; Changed publications: 30636905; Changed phenotypes: amyotrophic lateral sclerosis MONDO:0004976
Motor Neurone Disease v1.41 Bryony Thompson Copied gene RAPGEF2 from panel Mendeliome
Motor Neurone Disease v1.41 RAPGEF2 Bryony Thompson gene: RAPGEF2 was added
gene: RAPGEF2 was added to Motor Neurone Disease. Sources: Expert Review Green,Literature
STR tags were added to gene: RAPGEF2.
Mode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAPGEF2 were set to 41556274; 30636905
Phenotypes for gene: RAPGEF2 were set to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976
Intellectual disability syndromic and non-syndromic v1.668 Bryony Thompson Copied gene RAPGEF2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.668 RAPGEF2 Bryony Thompson gene: RAPGEF2 was added
gene: RAPGEF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
STR tags were added to gene: RAPGEF2.
Mode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAPGEF2 were set to 41556274; 30636905
Phenotypes for gene: RAPGEF2 were set to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976
Mendeliome v1.4313 Bryony Thompson Copied STR RAPGEF2_FAME7_TTTCA from panel Genetic Epilepsy
Mendeliome v1.4313 RAPGEF2_FAME7_TTTCA Bryony Thompson STR: RAPGEF2_FAME7_TTTCA was added
STR: RAPGEF2_FAME7_TTTCA was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: RAPGEF2_FAME7_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: RAPGEF2_FAME7_TTTCA were set to 29507423; 30351492; 33791773
Phenotypes for STR: RAPGEF2_FAME7_TTTCA were set to Epilepsy, familial adult myoclonic, 7 MIM#618075
Mendeliome v1.4312 RAPGEF2 Bryony Thompson Marked gene: RAPGEF2 as ready
Mendeliome v1.4312 RAPGEF2 Bryony Thompson Gene: rapgef2 has been classified as Green List (High Evidence).
Mendeliome v1.4312 RAPGEF2 Bryony Thompson Phenotypes for gene: RAPGEF2 were changed from ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 to Neurodevelopmental disorder, MONDO:0700092; amyotrophic lateral sclerosis MONDO:0004976
Mendeliome v1.4311 RAPGEF2 Bryony Thompson Publications for gene: RAPGEF2 were set to 37021642; 30351492; 29507423
Mendeliome v1.4310 RAPGEF2 Bryony Thompson Classified gene: RAPGEF2 as Green List (high evidence)
Mendeliome v1.4310 RAPGEF2 Bryony Thompson Gene: rapgef2 has been classified as Green List (High Evidence).
Mendeliome v1.4309 RAPGEF2 Bryony Thompson reviewed gene: RAPGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 41556274, 30636905; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, amyotrophic lateral sclerosis MONDO:0004976; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lipodystrophy_Lipoatrophy v1.42 EBF2 Zornitza Stark Marked gene: EBF2 as ready
Lipodystrophy_Lipoatrophy v1.42 EBF2 Zornitza Stark Gene: ebf2 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.42 EBF2 Zornitza Stark Mode of inheritance for gene: EBF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v1.41 EBF2 Zornitza Stark edited their review of gene: EBF2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4309 EBF2 Zornitza Stark Mode of inheritance for gene: EBF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4308 EBF2 Zornitza Stark edited their review of gene: EBF2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v1.41 Zornitza Stark Copied gene EBF2 from panel Mendeliome
Lipodystrophy_Lipoatrophy v1.41 EBF2 Zornitza Stark gene: EBF2 was added
gene: EBF2 was added to Lipodystrophy_Lipoatrophy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EBF2 were set to 41615236; 38978649; 29704291
Phenotypes for gene: EBF2 were set to Lipodystrophy, MONDO:0006573, EBF2-related
Mendeliome v1.4308 EBF2 Zornitza Stark Classified gene: EBF2 as Amber List (moderate evidence)
Mendeliome v1.4308 EBF2 Zornitza Stark Gene: ebf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4307 EBF2 Zornitza Stark edited their review of gene: EBF2: Changed rating: AMBER
Mendeliome v1.4307 EBF2 Zornitza Stark Marked gene: EBF2 as ready
Mendeliome v1.4307 EBF2 Zornitza Stark Gene: ebf2 has been classified as Red List (Low Evidence).
Mendeliome v1.4307 EBF2 Zornitza Stark gene: EBF2 was added
gene: EBF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EBF2 were set to 41615236; 38978649; 29704291
Phenotypes for gene: EBF2 were set to Lipodystrophy, MONDO:0006573, EBF2-related
Review for gene: EBF2 was set to RED
Added comment: PMIDs 38978649 and 41615236 each describe a single patient with a heterozygous nonsense p.Glu165Ter variant and childhood‑onset partial lipodystrophy, providing extensive functional validation. Heterozygous knock‑in mice (Ebf2^E165X/+) recapitulate restricted adipogenesis, extracellular matrix fibrosis, reduced leptin and adiponectin, metabolic impairment on high‑fat diet and mitochondrial gene down‑regulation, supporting pathogenicity. Dominant negative mechanism suggested.

Also note PMID 29704291 reports six affected individuals from one family with a heterozygous missense p.Ala72Val variant and isolated imperforate anus. No functional data provided.
Sources: Literature
Cerebral Palsy v1.410 SLC6A3 Lucy Spencer Classified gene: SLC6A3 as Green List (high evidence)
Cerebral Palsy v1.410 SLC6A3 Lucy Spencer Gene: slc6a3 has been classified as Green List (High Evidence).
Cerebral Palsy v1.409 SLC6A3 Lucy Spencer gene: SLC6A3 was added
gene: SLC6A3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to 33528536; 21112253; 33098801
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135
Review for gene: SLC6A3 was set to GREEN
Added comment: PMID: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations.

This review was originally entered for SLC5A6 in error and has now been moved here
Sources: Literature
Cerebral Palsy v1.408 Lucy Spencer removed gene:SLC5A6 from the panel
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Classified gene: FARS2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.219 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.218 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 33168986; 38362779; 41588148; 34690748
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency MIM#614946
Review for gene: FARS2 was set to GREEN
Added comment: Cardiomyopathy is part of the phenotype.
Sources: Literature
Skeletal dysplasia v0.413 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Skeletal dysplasia v0.413 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.413 FAM111A Zornitza Stark Publications for gene: FAM111A were set to
Skeletal dysplasia v0.412 FAM111A Zornitza Stark Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.411 FAM111A Zornitza Stark reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: None; Publications: 39932783, 39501122; Phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4306 FAM111A Zornitza Stark Phenotypes for gene: FAM111A were changed from autosomal dominant Kenny-Caffey syndrome MONDO:0007478 to Kenny-Caffey syndrome, type 2, MIM# 127000
Mendeliome v1.4305 FAM111A Zornitza Stark Publications for gene: FAM111A were set to 23684011; 32996714; 32765931; 33010201
Mendeliome v1.4304 FAM111A Zornitza Stark Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4303 FAM111A Zornitza Stark reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: None; Publications: 39932783, 39501122; Phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.54 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350
Metal Metabolism Disorders v0.53 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.52 STEAP3 Zornitza Stark edited their review of gene: STEAP3: Added comment: PMID 38360212 reports two unrelated families with compound heterozygous STEAP3 missense variants (p.I177M, p.T495M) causing childhood-onset microcytic anaemia; functional ferrireductase assays in HeLa cells demonstrate loss of activity. Part of large cohort study, low level of individual detail.; Changed publications: 22031863, 25515317, 26675350, 38360212; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v1.45 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350
Red cell disorders v1.44 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v1.43 STEAP3 Zornitza Stark edited their review of gene: STEAP3: Added comment: PMID 38360212 reports two unrelated families with compound heterozygous STEAP3 missense variants (p.I177M, p.T495M) causing childhood-onset microcytic anaemia; functional ferrireductase assays in HeLa cells demonstrate loss of activity. Part of large cohort study, low level of individual detail.; Changed publications: 22031863, 25515317, 26675350, 38360212; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4303 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350
Mendeliome v1.4302 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4301 STEAP3 Zornitza Stark edited their review of gene: STEAP3: Added comment: PMID 38360212 reports two unrelated families with compound heterozygous STEAP3 missense variants (p.I177M, p.T495M) causing childhood-onset microcytic anaemia; functional ferrireductase assays in HeLa cells demonstrate loss of activity. Part of large cohort study, low level of individual detail.; Changed publications: 22031863, 25515317, 26675350, 38360212; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4301 TRU-TCA1-1 Katrina Bell All sources for gene: TRU-TCA1-1 were removed
Fetal anomalies v1.528 PTBP1 Zornitza Stark Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495
Fetal anomalies v1.527 PTBP1 Zornitza Stark reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.411 PTBP1 Zornitza Stark Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495
Skeletal dysplasia v0.410 PTBP1 Zornitza Stark reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.667 PTBP1 Zornitza Stark Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495
Intellectual disability syndromic and non-syndromic v1.666 PTBP1 Zornitza Stark reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4300 PTBP1 Zornitza Stark Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495
Mendeliome v1.4299 PTBP1 Zornitza Stark reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.338 ATP5B Zornitza Stark Marked gene: ATP5B as ready
Dystonia and Chorea v0.338 ATP5B Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.338 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Dystonia 38, susceptibility to, MIM# 621502
Mitochondrial disease v1.15 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Dystonia and Chorea v0.337 ATP5B Zornitza Stark edited their review of gene: ATP5B: Changed phenotypes: Dystonia 38, susceptibility to, MIM# 621502, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.15 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.14 ATP5B Zornitza Stark edited their review of gene: ATP5B: Changed phenotypes: Dystonia 38, susceptibility to, MIM# 621502, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mendeliome v1.4299 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mendeliome v1.4298 ATP5B Zornitza Stark edited their review of gene: ATP5B: Changed phenotypes: Dystonia 38, susceptibility to, MIM# 621502, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Osteopetrosis v1.0 CLCN7 Sangavi Sivagnanasundram changed review comment from: Both AD and AR GDA has been classified as DEFINITIVE by ClinGen Skeletal Dysplasia GCEP in 2023

AD - https://search.clinicalgenome.org/CCID:004466
AR - https://search.clinicalgenome.org/CCID:004467; to: Both AD and AR GDA has been classified as DEFINITIVE by ClinGen Skeletal Dysplasia GCEP in 2023

AD - https://search.clinicalgenome.org/CCID:004466 - Dominant negative MOD
AR - https://search.clinicalgenome.org/CCID:004467 - Loss of function MOD
Osteopetrosis v1.0 CLCN7 Sangavi Sivagnanasundram reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant osteopetrosis 2 MONDO:0008156, autosomal recessive osteopetrosis 4 MONDO:0012676; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
IBMDx study v0.41 GP1BB Zornitza Stark Marked gene: GP1BB as ready
IBMDx study v0.41 GP1BB Zornitza Stark Gene: gp1bb has been classified as Green List (High Evidence).
IBMDx study v0.41 GP1BB Zornitza Stark Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome (BSS) to ulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia
IBMDx study v0.40 GP1BB Zornitza Stark Publications for gene: GP1BB were set to
IBMDx study v0.39 GP1BB Zornitza Stark Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4298 GDF3 Zornitza Stark Phenotypes for gene: GDF3 were changed from Microphthalmia with coloboma 6, MIM# 613703; Microphthalmia, isolated 7, MIM# 613704 to Microphthalmia with coloboma 6, MIM# 613703; Microphthalmia, isolated 7, MIM# 613704; Klippel-Feil anomaly with laryngeal malformation - 613702
Mendeliome v1.4297 GDF3 Zornitza Stark edited their review of gene: GDF3: Added comment: Single family reported with the skeletal phenotype in 2010, none since. Note they also had ocular abnormalities so unclear if this is a distinct association.; Changed phenotypes: Microphthalmia with coloboma 6 613703, Microphthalmia, isolated 7 613704, Klippel-Feil anomaly with laryngeal malformation - 613702
Skeletal dysplasia v0.410 GDF3 Zornitza Stark Marked gene: GDF3 as ready
Skeletal dysplasia v0.410 GDF3 Zornitza Stark Gene: gdf3 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.410 GDF3 Zornitza Stark Deleted their comment
Skeletal dysplasia v0.410 GDF3 Zornitza Stark edited their review of gene: GDF3: Added comment: Single family reported in 2010 with this phenotype, none since. Note ocular abnormalities also present so unsure if this is a distinct disorder.; Changed phenotypes: Klippel-Feil anomaly with laryngeal malformation - 613702
Skeletal dysplasia v0.410 GDF3 Zornitza Stark Mode of inheritance for gene: GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.409 GDF3 Zornitza Stark edited their review of gene: GDF3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4297 GDF3 Zornitza Stark Mode of inheritance for gene: GDF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4296 GDF3 Zornitza Stark edited their review of gene: GDF3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.378 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from developmental and epileptic encephalopathy MONDO:0100062 to {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500
Genetic Epilepsy v1.377 ZFHX3 Zornitza Stark reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500; Mode of inheritance: None
Mendeliome v1.4296 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related; developmental and epileptic encephalopathy MONDO:0100062, ZFHX3-related to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related; {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500
Mendeliome v1.4295 ZFHX3 Zornitza Stark edited their review of gene: ZFHX3: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related, {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500
Mendeliome v1.4295 PTPRF Bryony Thompson gene: PTPRF was added
gene: PTPRF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPRF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRF were set to 24781087
Phenotypes for gene: PTPRF were set to breasts and/or nipples, aplasia or hypoplasia of, 2 MONDO:0014450
Review for gene: PTPRF was set to RED
Added comment: A single consanguineous family with a homozygous variant
Sources: Literature
Incidentalome v0.422 PLA2G2A Bryony Thompson gene: PLA2G2A was added
gene: PLA2G2A was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: PLA2G2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G2A were set to 9272153; 8912789
Phenotypes for gene: PLA2G2A were set to colorectal cancer MONDO:0005575
Review for gene: PLA2G2A was set to RED
Added comment: Single case reported with a frameshift variant (c.144_145del) that has 61 hets present in gnomAD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.666 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.666 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Autism v0.245 PRODH Krithika Murali Phenotypes for gene: PRODH were changed from to hyperprolinemia type 1 - MONDO:0009400
Autism v0.245 PRODH Krithika Murali Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.245 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Autism v0.245 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Autism v0.244 PRODH Krithika Murali Marked gene: PRODH as ready
Autism v0.244 PRODH Krithika Murali Gene: prodh has been classified as Green List (High Evidence).
Genetic Epilepsy v1.377 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.377 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.377 PRODH Krithika Murali Publications for gene: PRODH were set to 17412540; 12217952
Genetic Epilepsy v1.376 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.376 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.376 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.376 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.375 PRODH Krithika Murali reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.665 PRODH Krithika Murali reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.244 PRODH Krithika Murali reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4294 Bryony Thompson Copied gene MYL4 from panel Atrial Fibrillation
Mendeliome v1.4294 MYL4 Bryony Thompson gene: MYL4 was added
gene: MYL4 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MYL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL4 were set to 27742809; 27066836; 29080865
Phenotypes for gene: MYL4 were set to atrial fibrillation, familial, 18 MONDO:0015001
Atrial Fibrillation v1.6 MYL4 Bryony Thompson Classified gene: MYL4 as Amber List (moderate evidence)
Atrial Fibrillation v1.6 MYL4 Bryony Thompson Gene: myl4 has been classified as Amber List (Moderate Evidence).
Atrial Fibrillation v1.5 MYL4 Bryony Thompson gene: MYL4 was added
gene: MYL4 was added to Atrial Fibrillation. Sources: Literature
Mode of inheritance for gene: MYL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL4 were set to 27742809; 27066836; 29080865
Phenotypes for gene: MYL4 were set to atrial fibrillation, familial, 18 MONDO:0015001
Review for gene: MYL4 was set to AMBER
Added comment: PMID: 27742809 - MYL4 c.234delC identified homozygous in 8 cases from 5 families with early-onset atrial fibrillation in the Icelandic population. Heterozygous individuals were apparently unaffected.
PMID: 27066836 - heterozygous MYL4 p.Glu11Lys segregates with early-onset atrial fibrillation in a single family. Zebrafish model of the variant (E17K) recapitulated atrial fibrillation.
PMID: 29080865 - rat knock-in model MYL4p.E11K induced fibrotic atrial cardiomyopathy
Sources: Literature
Mendeliome v1.4293 CTSO Rylee Peters gene: CTSO was added
gene: CTSO was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTSO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTSO were set to 41508845
Phenotypes for gene: CTSO were set to Brain aneurysm, MONDO:0005291, CTSO-related
Review for gene: CTSO was set to RED
Added comment: PMID:41508845 reports 9 individuals from 2 unrelated families with heterozygous missense CTSO variants presenting with familial intracranial aneurysm; an additional 8 relatives were heterozygous for a CTSO variant but had no intracranial aneurysm; 16 unaffected relatives did not have a CTSO variant. The two missense variants identified in these families are present in gnomAD v4, p.(Val316Ile) with 84 hets, p.(Ala43Val) with 683 hets, 1 hom.

In‑vitro VSMC knock‑down and mutant‑expression assays showed reduced CTSO secretion, increased fibronectin deposition, increased cell stiffness; but a causal relationship between CTSO variants and intracranial aneurysm has not been demonstrated in an in‑vivo model
Sources: Literature
Mendeliome v1.4292 CELSR1 Rylee Peters changed review comment from: GREEN rating for monoallelic lymphatic malformation 9, MIM# 619319

GREEN rating for biallelic neurodevelopmental disorder association:
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.
PMID: 36453712 describe 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.; to: GREEN rating for monoallelic lymphatic malformation 9, MIM# 619319

GREEN rating for biallelic neurodevelopmental disorder association:
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.
PMID: 36453712 describe 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Intellectual disability syndromic and non-syndromic v1.665 CELSR1 Rylee Peters changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Genetic Epilepsy v1.375 CELSR1 Rylee Peters changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Genetic Epilepsy v1.375 CELSR1 Rylee Peters Classified gene: CELSR1 as Green List (high evidence)
Genetic Epilepsy v1.375 CELSR1 Rylee Peters Gene: celsr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.374 CELSR1 Rylee Peters gene: CELSR1 was added
gene: CELSR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR1 were set to 41530147; 36453712
Phenotypes for gene: CELSR1 were set to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related
Review for gene: CELSR1 was set to GREEN
Added comment: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.665 CELSR1 Rylee Peters Phenotypes for gene: CELSR1 were changed from to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related
Intellectual disability syndromic and non-syndromic v1.664 CELSR1 Rylee Peters changed review comment from: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.664 CELSR1 Rylee Peters Classified gene: CELSR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.664 CELSR1 Rylee Peters Gene: celsr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.663 CELSR1 Rylee Peters gene: CELSR1 was added
gene: CELSR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR1 were set to 41530147; 36453712
Review for gene: CELSR1 was set to GREEN
Added comment: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Mendeliome v1.4292 CELSR1 Rylee Peters Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, MIM# 619319 to Lymphatic malformation 9 (MIM#619319); Neurodevelopmental disorder, MONDO:0700092, CELSR1-related
Mendeliome v1.4291 CELSR1 Rylee Peters Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770
Mendeliome v1.4290 CELSR1 Rylee Peters Mode of inheritance for gene: CELSR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4289 CELSR1 Rylee Peters reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26855770, 31215153, 31403174, 36453712, 38272662, 41530147; Phenotypes: Lymphatic malformation 9 (MIM#619319), Neurodevelopmental disorder, MONDO:0700092, CELSR1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4289 GPD2 Bryony Thompson Marked gene: GPD2 as ready
Mendeliome v1.4289 GPD2 Bryony Thompson Gene: gpd2 has been classified as Red List (Low Evidence).
Mendeliome v1.4289 GPD2 Bryony Thompson gene: GPD2 was added
gene: GPD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPD2 were set to 9070847; 12093800
Phenotypes for gene: GPD2 were set to type 2 diabetes mellitus MONDO:0005148
Review for gene: GPD2 was set to RED
Added comment: Single case with abnormally low activity of mitochondrial GDH and a rare missense variant. Knockout mouse model has features of both glycerol kinase deficiency and hereditary fructose intolerance.
Sources: Literature
Genetic Epilepsy v1.373 Bryony Thompson Copied gene GAL from panel Mendeliome
Genetic Epilepsy v1.373 GAL Bryony Thompson gene: GAL was added
gene: GAL was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GAL were set to 25691535
Phenotypes for gene: GAL were set to familial temporal lobe epilepsy 8 MONDO:0014650
Mendeliome v1.4288 GAL Bryony Thompson gene: GAL was added
gene: GAL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GAL were set to 25691535
Phenotypes for gene: GAL were set to familial temporal lobe epilepsy 8 MONDO:0014650
Review for gene: GAL was set to RED
Added comment: 2 monozygotic male twins with familial temporal lobe epilepsy with a de novo heterozygous missense variant (p.A39E). In vitro functional assay showed antagonistic activity against galanin receptor 1 (GalR1)-mediated response, and decreased binding affinity and reduced agonist properties for GalR2.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.403 SEMA3A Zornitza Stark Classified gene: SEMA3A as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.403 SEMA3A Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.402 PROK2 Zornitza Stark Classified gene: PROK2 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.402 PROK2 Zornitza Stark Gene: prok2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.401 KISS1R Zornitza Stark Classified gene: KISS1R as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.401 KISS1R Zornitza Stark Gene: kiss1r has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.400 FGFR1 Zornitza Stark Classified gene: FGFR1 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.400 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.399 FGF8 Zornitza Stark Classified gene: FGF8 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.399 FGF8 Zornitza Stark Gene: fgf8 has been classified as Red List (Low Evidence).
Mendeliome v1.4287 RUNDC1 Zornitza Stark Marked gene: RUNDC1 as ready
Mendeliome v1.4287 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4287 RUNDC1 Zornitza Stark Classified gene: RUNDC1 as Amber List (moderate evidence)
Mendeliome v1.4287 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4286 RUNDC1 Zornitza Stark reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Marked gene: RUNDC1 as ready
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Classified gene: RUNDC1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.174 RUNDC1 Zornitza Stark reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.41 ISCA-46303-Loss Zornitza Stark Marked Region: ISCA-46303-Loss as ready
Differences of Sex Development v1.41 ISCA-46303-Loss Zornitza Stark Region: isca-46303-loss has been classified as Green List (High Evidence).
Differences of Sex Development v1.41 ISCA-46303-Loss Zornitza Stark Phenotypes for Region: ISCA-46303-Loss were changed from to 46XY sex reversal 10, MIM# 616425; 46XX sex reversal 2, MIM# 278850; Pierre-Robin sequence MONDO:0009869, SOX9-related
Differences of Sex Development v1.40 ISCA-46303-Loss Zornitza Stark Classified Region: ISCA-46303-Loss as Green List (high evidence)
Differences of Sex Development v1.40 ISCA-46303-Loss Zornitza Stark Region: isca-46303-loss has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 TYMP Zornitza Stark Marked gene: TYMP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 TYMP Zornitza Stark Gene: tymp has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.396 TYMP Zornitza Stark Classified gene: TYMP as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.396 TYMP Zornitza Stark Gene: tymp has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 TYMP Zornitza Stark reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Marked gene: WDR11 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Gene: wdr11 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Classified gene: WDR11 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Gene: wdr11 has been classified as Red List (Low Evidence).
Red cell disorders v1.43 STEAP3 Zornitza Stark changed review comment from: Single family reported only with (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes.

Conflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes; to: Single family reported only with heterozygous (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes.

Conflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes
Intellectual disability syndromic and non-syndromic v1.662 TTBK1 Zornitza Stark Marked gene: TTBK1 as ready
Intellectual disability syndromic and non-syndromic v1.662 TTBK1 Zornitza Stark Gene: ttbk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.662 Zornitza Stark Copied gene TTBK1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.662 TTBK1 Zornitza Stark gene: TTBK1 was added
gene: TTBK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTBK1 were set to 41545183
Phenotypes for gene: TTBK1 were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.4286 TTBK1 Zornitza Stark Marked gene: TTBK1 as ready
Mendeliome v1.4286 TTBK1 Zornitza Stark Gene: ttbk1 has been classified as Red List (Low Evidence).
Mendeliome v1.4286 TTBK1 Zornitza Stark gene: TTBK1 was added
gene: TTBK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTBK1 were set to 41545183
Phenotypes for gene: TTBK1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: TTBK1 was set to RED
Added comment: PMID 41545183 reports 2 individuals from a single family with biallelic loss-of-function frameshift variant (p.Thr634ArgfsTer39) presenting with a severe syndromic neurodevelopmental disorder characterized by global developmental delay, microcephaly, progressive spasticity, non‑ambulatory status, and seizures in the older sibling. No functional studies were performed.
Sources: Literature
Mendeliome v1.4285 Zornitza Stark Copied gene C12orf40 from panel Infertility and Recurrent Pregnancy Loss
Mendeliome v1.4285 C12orf40 Zornitza Stark gene: C12orf40 was added
gene: C12orf40 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: C12orf40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf40 were set to 41580510; 37612290; 37604834
Phenotypes for gene: C12orf40 were set to Infertility disorder, MONDO:0005047, C12orf40-related
Infertility and Recurrent Pregnancy Loss v1.81 C12orf40 Zornitza Stark Classified gene: C12orf40 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v1.81 C12orf40 Zornitza Stark Gene: c12orf40 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.80 C12orf40 Zornitza Stark gene: C12orf40 was added
gene: C12orf40 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: C12orf40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf40 were set to 41580510; 37612290; 37604834
Phenotypes for gene: C12orf40 were set to Infertility disorder, MONDO:0005047, C12orf40-related
Review for gene: C12orf40 was set to GREEN
Added comment: PMID 37604834, 37612290 and 41580510 report a total of 8 individuals from 6 unrelated families with biallelic loss-of-function C12ORF40 variants presenting with severe male infertility due to spermatogenic failure (non‑obstructive azoospermia or severe oligoasthenoteratozoospermia). Affected men have normal hormone levels but exhibit meiotic arrest or markedly increased sperm sex‑chromosome aneuploidy. Mouse knockout and knock‑in models recapitulate the infertility phenotype, and in vitro assays demonstrate loss of nucleic‑acid binding activity, supporting pathogenicity.
Sources: Literature
Cataract v0.626 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Cataract v0.626 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Cataract v0.626 ZEB2 Zornitza Stark Classified gene: ZEB2 as Amber List (moderate evidence)
Cataract v0.626 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Cataract v0.625 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZEB2 were set to 36676725; 25899569
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, MIM# 235730
Review for gene: ZEB2 was set to AMBER
Added comment: PMID 25899569 reports four unrelated families with heterozygous loss‑of‑function ZEB2 variants causing Mowat‑Wilson syndrome; one of these families had cataract. PMID 36676725 reports one unrelated family with a de novo nonsense ZEB2 variant presenting with bilateral developmental cataract as part of Mowat‑Wilson syndrome.
Sources: Literature
Cataract v0.624 VCAN Zornitza Stark Marked gene: VCAN as ready
Cataract v0.624 VCAN Zornitza Stark Gene: vcan has been classified as Amber List (Moderate Evidence).
Cataract v0.624 VCAN Zornitza Stark Classified gene: VCAN as Amber List (moderate evidence)
Cataract v0.624 VCAN Zornitza Stark Gene: vcan has been classified as Amber List (Moderate Evidence).
Cataract v0.623 VCAN Zornitza Stark gene: VCAN was added
gene: VCAN was added to Cataract. Sources: Literature
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VCAN were set to 36333947; 29071374
Phenotypes for gene: VCAN were set to Wagner syndrome 1, MIM# 143200
Review for gene: VCAN was set to AMBER
Added comment: PMID 29071374 reports 28 individuals from 1 family with heterozygous splice‑acceptor c.4004-1G>A variant presenting with Wagner syndrome (vitreoretinopathy, cataract, retinal detachment). PMID 36333947 reports 4 individuals from 1 family with heterozygous splice‑site indel c.4004-4_c.4004-3delinsCA variant presenting with Wagner vitreoretinopathy (cataract, vitreous syneresis, retinal detachment).
Sources: Literature
Fetal anomalies v1.527 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Fetal anomalies v1.526 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Mendeliome v1.4284 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Mendeliome v1.4283 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Craniosynostosis v1.75 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Craniosynostosis v1.74 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Congenital Heart Defect v0.524 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Congenital Heart Defect v0.523 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Intellectual disability syndromic and non-syndromic v1.661 TMEM189 Chirag Patel Marked gene: TMEM189 as ready
Intellectual disability syndromic and non-syndromic v1.661 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.411 TMEM189 Chirag Patel Marked gene: TMEM189 as ready
Microcephaly v1.411 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.411 Chirag Patel Copied gene TMEM189 from panel Mendeliome
Microcephaly v1.411 TMEM189 Chirag Patel gene: TMEM189 was added
gene: TMEM189 was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM189 were set to 41491239
Phenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related
Intellectual disability syndromic and non-syndromic v1.661 Chirag Patel Copied gene TMEM189 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.661 TMEM189 Chirag Patel gene: TMEM189 was added
gene: TMEM189 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM189 were set to 41491239
Phenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related
Mendeliome v1.4283 TMEM189 Chirag Patel Marked gene: TMEM189 as ready
Mendeliome v1.4283 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4283 TMEM189 Chirag Patel Classified gene: TMEM189 as Amber List (moderate evidence)
Mendeliome v1.4283 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4282 TMEM189 Chirag Patel gene: TMEM189 was added
gene: TMEM189 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM189 were set to 41491239
Phenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related
Review for gene: TMEM189 was set to AMBER
Added comment: 2 individuals from 2 unrelated consanguineous families presenting with microcephaly, global developmental delay, growth retardation, dysmorphic facial features and congenital cataracts (in one case). Both individuals had the same rare homozygous frameshift variant (c.104delC, p.Ala35Valfs*16) in PEDS1 gene (aka TMEM189). The variant segregated in the family. PEDS1 encodes the plasmanylethanolamine desaturase that catalyzes the final step of plasmalogen biosynthesis. Functional studies show the mutant protein is unstable and undetectable in COS7 cells, and mouse Peds1‑/‑ knockouts display microcephaly and neuroanatomical defects mirroring the human phenotype. Rescue of neuronal migration deficits by RNAi‑resistant wild‑type PEDS1 confirms loss‑of‑function as the disease mechanism.
Sources: Literature
Incidentalome v0.421 Bryony Thompson Copied gene DLST from panel Paraganglioma_phaeochromocytoma
Incidentalome v0.421 DLST Bryony Thompson gene: DLST was added
gene: DLST was added to Incidentalome. Sources: Expert Review Red,Literature,Expert Review,Expert list
Mode of inheritance for gene: DLST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLST were set to PMID: 30929736, 33180916
Phenotypes for gene: DLST were set to Paragangliomas 7, MONDO:0032771; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 7, MIM#618475
Cataract v0.622 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Cataract v0.622 TENM3 Zornitza Stark Gene: tenm3 has been classified as Amber List (Moderate Evidence).
Cataract v0.622 TENM3 Zornitza Stark Classified gene: TENM3 as Amber List (moderate evidence)
Cataract v0.622 TENM3 Zornitza Stark Gene: tenm3 has been classified as Amber List (Moderate Evidence).
Cataract v0.621 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 36911040; 32799327
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM# 615145
Review for gene: TENM3 was set to AMBER
Added comment: PMID 32799327 reports a family with a homozygous nonsense TENM3 variant causing congenital cataract, microphthalmia and coloboma. PMID 36911040 reports 2 unrelated families with biallelic TENM3 variants; family 1 has congenital cataract, microphthalmia, microcephaly and developmental delay, family 2 has esotropia with speech and motor delay.
Sources: Literature
Cataract v0.620 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Cataract v0.620 SIX6 Zornitza Stark Gene: six6 has been classified as Amber List (Moderate Evidence).
Cataract v0.620 SIX6 Zornitza Stark Classified gene: SIX6 as Amber List (moderate evidence)
Cataract v0.620 SIX6 Zornitza Stark Gene: six6 has been classified as Amber List (Moderate Evidence).
Cataract v0.619 SIX6 Zornitza Stark gene: SIX6 was added
gene: SIX6 was added to Cataract. Sources: Literature
Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIX6 were set to 35693420
Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Review for gene: SIX6 was set to AMBER
Added comment: PMID 35693420 reports four individuals from two unrelated consanguineous families with biallelic SIX6 variants (c.547G>C p.Asp183His missense; c.-227_572+235del1034 exon‑1 deletion) presenting with congenital cataract, microcornea, corneal opacification and variable iris coloboma or microphthalmia. The variants segregate with disease, are absent from population databases, and in silico structural modelling predicts loss‑of‑function.
Sources: Literature
Cataract v0.618 MFRP Zornitza Stark Marked gene: MFRP as ready
Cataract v0.618 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Cataract v0.618 MFRP Zornitza Stark Classified gene: MFRP as Amber List (moderate evidence)
Cataract v0.618 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Cataract v0.617 MFRP Zornitza Stark gene: MFRP was added
gene: MFRP was added to Cataract. Sources: Literature
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFRP were set to 36605040
Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040
Review for gene: MFRP was set to AMBER
Added comment: PMID 36605040 reports 2 individuals from 2 unrelated families with biallelic canonical splice-site MFRP variants presenting with nanophthalmos, high hyperopia, retinitis pigmentosa, and early-onset cataract (nuclear sclerotic).
Sources: Literature
Cataract v0.616 MAFA Zornitza Stark Marked gene: MAFA as ready
Cataract v0.616 MAFA Zornitza Stark Gene: mafa has been classified as Amber List (Moderate Evidence).
Cataract v0.616 MAFA Zornitza Stark Classified gene: MAFA as Amber List (moderate evidence)
Cataract v0.616 MAFA Zornitza Stark Gene: mafa has been classified as Amber List (Moderate Evidence).
Cataract v0.615 MAFA Zornitza Stark gene: MAFA was added
gene: MAFA was added to Cataract. Sources: Literature
Mode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAFA were set to 29339498
Phenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, MIM# 147630
Review for gene: MAFA was set to AMBER
Added comment: PMID 29339498 reports a heterozygous MAFA p.Ser64Phe gain‑of‑function missense variant in two unrelated families with autosomal dominant insulinomatosis/diabetes and in the index family four individuals with congenital cataract (±glaucoma).
Sources: Literature
Mendeliome v1.4281 LRPAP1 Bryony Thompson Marked gene: LRPAP1 as ready
Mendeliome v1.4281 LRPAP1 Bryony Thompson Gene: lrpap1 has been classified as Green List (High Evidence).
Mendeliome v1.4281 LRPAP1 Bryony Thompson Classified gene: LRPAP1 as Green List (high evidence)
Mendeliome v1.4281 LRPAP1 Bryony Thompson Gene: lrpap1 has been classified as Green List (High Evidence).
Mendeliome v1.4280 LRPAP1 Bryony Thompson gene: LRPAP1 was added
gene: LRPAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRPAP1 were set to 23830514; 25525168; 36261846; 39444998
Phenotypes for gene: LRPAP1 were set to myopia 23, autosomal recessive MONDO:0014183
Review for gene: LRPAP1 was set to GREEN
Added comment: At least 4 families reported with homozygous variants, and a supporting zebrafish model
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.79 Bryony Thompson Copied gene ACR from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.79 ACR Bryony Thompson gene: ACR was added
gene: ACR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACR were set to 37004249
Phenotypes for gene: ACR were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4279 ACR Bryony Thompson Marked gene: ACR as ready
Mendeliome v1.4279 ACR Bryony Thompson Gene: acr has been classified as Red List (Low Evidence).
Mendeliome v1.4279 ACR Bryony Thompson gene: ACR was added
gene: ACR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACR were set to 37004249
Phenotypes for gene: ACR were set to spermatogenic failure MONDO:0004983
Review for gene: ACR was set to RED
Added comment: A single consanguineous family reported with a homozygous stopgain variant (c.167G>A, p.Trp56*) and supporting in vitro assay.
Sources: Literature
Differences of Sex Development v1.39 Sarah Milton Copied Region ISCA-46303-Loss from panel Common deletion and duplication syndromes
Differences of Sex Development v1.39 ISCA-46303-Loss Sarah Milton Region: ISCA-46303-Loss was added
Region: ISCA-46303-Loss was added to Differences of Sex Development. Sources: ClinGen
Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336
Cataract v0.614 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Cataract v0.614 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Cataract v0.614 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Cataract v0.614 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Cataract v0.613 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JAG1 were set to 40257159; 37337769; 32883240
Phenotypes for gene: JAG1 were set to Alagille syndrome 1, MIM# 118450
Review for gene: JAG1 was set to GREEN
Added comment: Cataract is a recognised feature of the condition.
Sources: Literature
Cataract v0.612 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Cataract v0.612 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Amber List (Moderate Evidence).
Cataract v0.612 DYNC1H1 Zornitza Stark Classified gene: DYNC1H1 as Amber List (moderate evidence)
Cataract v0.612 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Amber List (Moderate Evidence).
Cataract v0.611 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYNC1H1 were set to 27754416; 27331017
Phenotypes for gene: DYNC1H1 were set to Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563
Review for gene: DYNC1H1 was set to AMBER
Added comment: PMID 27331017 reports 1 individual with a de novo heterozygous missense DYNC1H1 variant (p.G3658E) presenting with severe malformation of cortical development and bilateral congenital cataract. PMID 27754416 reports a second individual with a de novo heterozygous missense DYNC1H1 variant (p.R2332C) presenting with congenital cataracts, polymicrogyria, developmental delay, gut dysmotility and sensory neuropathy.
Sources: Literature
Cataract v0.610 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Cataract v0.610 CWC27 Zornitza Stark Gene: cwc27 has been classified as Amber List (Moderate Evidence).
Cataract v0.610 CWC27 Zornitza Stark Classified gene: CWC27 as Amber List (moderate evidence)
Cataract v0.610 CWC27 Zornitza Stark Gene: cwc27 has been classified as Amber List (Moderate Evidence).
Cataract v0.609 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 38840272; 31481716
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Review for gene: CWC27 was set to AMBER
Added comment: PMIDs 31481716 and 38840272 report 2 individuals from 2 unrelated families with biallelic loss-of-function CWC27 variants presenting with congenital cataract (often accompanied by retinal dystrophy, skeletal anomalies, short stature, intellectual disability, and hypergonadotropic hypogonadism).
Sources: Literature
Cataract v0.608 ARCN1 Zornitza Stark Marked gene: ARCN1 as ready
Cataract v0.608 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Amber List (Moderate Evidence).
Cataract v0.608 ARCN1 Zornitza Stark Classified gene: ARCN1 as Amber List (moderate evidence)
Cataract v0.608 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Amber List (Moderate Evidence).
Cataract v0.607 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ARCN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARCN1 were set to 35300924
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Review for gene: ARCN1 was set to AMBER
Added comment: PMID 35300924 reports 4 individuals from 2 unrelated families with biallelic loss-of-function ARCN1 variants presenting with cataract (onset infancy to early adolescence) as part of ARCN1‑related syndrome.
Sources: Literature
Regression v0.604 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Regression v0.604 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Regression v0.604 ZBTB11 Zornitza Stark Publications for gene: ZBTB11 were set to 29893856
Regression v0.603 ZBTB11 Zornitza Stark changed review comment from: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.; to: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.

Regression is part of the phenotype.
Regression v0.603 Zornitza Stark Copied gene ZBTB11 from panel Mendeliome
Regression v0.603 ZBTB11 Zornitza Stark gene: ZBTB11 was added
gene: ZBTB11 was added to Regression. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 29893856
Phenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, OMIM #618383
Cataract v0.606 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Cataract v0.606 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Cataract v0.606 ZBTB11 Zornitza Stark Classified gene: ZBTB11 as Green List (high evidence)
Cataract v0.606 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Cataract v0.605 ZBTB11 Zornitza Stark gene: ZBTB11 was added
gene: ZBTB11 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 38899514
Phenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, MIM# 618383
Review for gene: ZBTB11 was set to GREEN
Added comment: PMID 38899514 reports 29 individuals from 17 unrelated families with biallelic ZBTB11 variants. All affected have neurodevelopmental delay/intellectual disability; 10 patients present with bilateral cataracts.
Sources: Literature
Cataract v0.604 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Cataract v0.604 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Cataract v0.604 VPS13B Zornitza Stark Classified gene: VPS13B as Green List (high evidence)
Cataract v0.604 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Cataract v0.603 VPS13B Zornitza Stark Classified gene: VPS13B as Green List (high evidence)
Cataract v0.603 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Cataract v0.602 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Cataract. Sources: Literature
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13B were set to 40813981; 37901634; 32915983
Phenotypes for gene: VPS13B were set to Cohen syndrome, MIM# 216550
Review for gene: VPS13B was set to GREEN
Added comment: PMID 32915983 reports two adult siblings with Cohen syndrome and bilateral nuclear‑sclerotic cataracts; PMID 37901634 reports a 39‑year‑old male with Cohen syndrome, early adult‑onset cataract and two novel VPS13B variants (c.5138T>C missense, c.10179del frameshift); PMID 40813981 reports a 24‑year‑old male with Cohen syndrome, bilateral cataract, spherical lenses, lens subluxation and retinitis pigmentosa carrying a homozygous splice‑site VPS13B variant (c.6865+1G>T). Functional mouse knockout models (Vps13bΔEx3/ΔEx3) develop early‑onset hypermature cataracts, supporting a causal link.
Sources: Literature
Cataract v0.601 USP9X Zornitza Stark Marked gene: USP9X as ready
Cataract v0.601 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Cataract v0.601 USP9X Zornitza Stark Classified gene: USP9X as Green List (high evidence)
Cataract v0.601 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Cataract v0.600 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Cataract. Sources: Literature
Mode of inheritance for gene: USP9X 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: USP9X were set to 38099911; 37895297
Phenotypes for gene: USP9X were set to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, MIM# 300968
Review for gene: USP9X was set to GREEN
Added comment: PMID 37895297 reports three unrelated female families with heterozygous loss‑of‑function USP9X variants (splice c.1314+2T>C, nonsense c.121G>T, frameshift c.1603dupA) presenting with Axenfeld–Rieger anomaly, congenital glaucoma, corneal neovascularization and cataract (two cases). PMID 38099911 reports an additional unrelated family with a heterozygous USP9X c.799_802del deletion causing bilateral cataracts, posterior lentiglobus and multiple systemic anomalies.
Sources: Literature
Mendeliome v1.4278 FGF10 Bryony Thompson Deleted their comment
Mendeliome v1.4278 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson Deleted their comment
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson changed review comment from: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; to: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.
Cataract v0.599 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Cataract v0.599 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Cataract v0.599 TRNT1 Zornitza Stark Classified gene: TRNT1 as Green List (high evidence)
Cataract v0.599 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Cataract v0.598 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 36937953; 34864912; 27389523
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Review for gene: TRNT1 was set to GREEN
Added comment: PMID 27389523 reports three affected siblings from one family with childhood cataract, inner retinal dysfunction, immunodeficiency and a homozygous missense TRNT1 p.Arg99Trp variant. PMID 34864912 describes a 49‑year‑old male with congenital cataract, recurrent infections, B‑cell immunodeficiency, periodic fevers and hypergonadotropic hypogonadism carrying the same homozygous p.Arg99Trp variant. PMID 36937953 presents three unrelated patients from two families with sideroblastic anemia, B‑cell immunodeficiency, periodic fevers, developmental delay and bilateral cataracts caused by compound heterozygous TRNT1 variants (c.1246A>G/p.K416E, c.1056+1G>A, c.574C>T/p.Q192*, c.464T>C/p.I155T). Across the three papers there are seven patients from four unrelated families with biallelic loss‑of‑function TRNT1 variants and a consistent phenotype that includes cataract.
Sources: Literature
Cataract v0.597 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Cataract v0.597 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Cataract v0.597 TRAPPC11 Zornitza Stark Classified gene: TRAPPC11 as Green List (high evidence)
Cataract v0.597 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Cataract v0.596 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 34648194; 26322222
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356
Review for gene: TRAPPC11 was set to GREEN
Added comment: PMID 26322222 and PMID 34648194 together describe five individuals from five unrelated families with biallelic loss‑of‑function TRAPPC11 variants. The affected individuals present with congenital/early‑onset muscular dystrophy, infantile‑onset cataract, markedly elevated CK, and multisystem involvement (fatty liver in one family and severe α‑dystroglycan hypoglycosylation in muscle).
Sources: Literature
Cataract v0.595 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Cataract v0.595 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cataract v0.595 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Cataract v0.595 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cataract v0.594 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 32055997; 30723199
Phenotypes for gene: TOR1AIP1 were set to Syndromic disease, MONDO:0002254, TOR1AIP1-related
Review for gene: TOR1AIP1 was set to GREEN
Added comment: PMID 30723199 reports 7 individuals from 5 unrelated families with biallelic nonsense TOR1AIP1 (c.961C>T) variants presenting with congenital bilateral cataract, severe neurodevelopmental impairment, intra‑uterine growth retardation, microcephaly, sensorineural deafness and cardiac defects. PMID 32055997 adds 2 unrelated individuals from 2 families carrying compound‑heterozygous loss‑of‑function TOR1AIP1 variants (frameshift + missense or nonsense + frameshift) with a closely overlapping multisystemic phenotype that also includes cataract, hearing loss, cardiac disease and muscular atrophy.

Note gene has been associated with multiple phenotypes, predominantly muscle-related; described as 'envelopathy' in some papers.
Sources: Literature
Cataract v0.593 TONSL Zornitza Stark Marked gene: TONSL as ready
Cataract v0.593 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Cataract v0.593 TONSL Zornitza Stark Classified gene: TONSL as Green List (high evidence)
Cataract v0.593 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Cataract v0.592 TONSL Zornitza Stark gene: TONSL was added
gene: TONSL was added to Cataract. Sources: Literature
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 30773277
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type, MIM# 271510
Review for gene: TONSL was set to GREEN
Added comment: PMID 30773277 reports 9 individuals from 8 unrelated families with bi‑allelic TONSL variants causing Sponastrime dysplasia, a skeletal dysplasia characterised by disproportionate short stature, platyspondyly, metaphyseal striations and, in three families, childhood bilateral cataracts.
Sources: Literature
Cataract v0.591 TKT Zornitza Stark Marked gene: TKT as ready
Cataract v0.591 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Cataract v0.591 TKT Zornitza Stark Classified gene: TKT as Green List (high evidence)
Cataract v0.591 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Cataract v0.590 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Cataract. Sources: Literature
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKT were set to 27259054
Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects, MIM# 617044
Review for gene: TKT was set to GREEN
Added comment: Cataracts are reported as part of this condition.
Sources: Literature
Cataract v0.589 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Cataract v0.589 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Cataract v0.589 TELO2 Zornitza Stark Classified gene: TELO2 as Green List (high evidence)
Cataract v0.589 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Cataract v0.588 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TELO2 were set to 37215500; 36797513; 28944240
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM# 616954
Review for gene: TELO2 was set to GREEN
Added comment: Multiple individuals reported with cataract as part of the phenotype.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: Other
Mendeliome v1.4278 SLC7A8 Zornitza Stark Marked gene: SLC7A8 as ready
Mendeliome v1.4278 SLC7A8 Zornitza Stark Gene: slc7a8 has been classified as Red List (Low Evidence).
Mendeliome v1.4278 Zornitza Stark Copied gene SLC7A8 from panel Cataract
Mendeliome v1.4278 SLC7A8 Zornitza Stark gene: SLC7A8 was added
gene: SLC7A8 was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A8 were set to 40229141; 31231240
Phenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related
Cataract v0.587 SLC7A8 Zornitza Stark Marked gene: SLC7A8 as ready
Cataract v0.587 SLC7A8 Zornitza Stark Gene: slc7a8 has been classified as Red List (Low Evidence).
Cataract v0.587 SLC7A8 Zornitza Stark gene: SLC7A8 was added
gene: SLC7A8 was added to Cataract. Sources: Literature
Mode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A8 were set to 40229141; 31231240
Phenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related
Review for gene: SLC7A8 was set to RED
Added comment: PMID 31231240 reports 2 affected siblings with autosomal recessive congenital bilateral sutural and zonular cataract caused by a homozygous frameshift c.1305del (p.Phe436Serfs*22) that abolishes LAT2 transport activity in HeLa cells. PMID 40229141 reports a single child from an unrelated family with compound heterozygous SLC7A8 variants (c.1017-1G>T splice-site and c.289G>A missense) and cataract; a minigene assay shows exon skipping for the splice variant. No other functional data, one of the variants is homozygous, hence RED rating.
Sources: Literature
Cataract v0.586 SEC23A Zornitza Stark Marked gene: SEC23A as ready
Cataract v0.586 SEC23A Zornitza Stark Gene: sec23a has been classified as Green List (High Evidence).
Cataract v0.586 SEC23A Zornitza Stark Classified gene: SEC23A as Green List (high evidence)
Cataract v0.586 SEC23A Zornitza Stark Gene: sec23a has been classified as Green List (High Evidence).
Cataract v0.585 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Cataract. Sources: Literature
Mode of inheritance for gene: SEC23A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SEC23A were set to 38275611; 37828500; 34580982
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, MIM# 607812
Review for gene: SEC23A was set to GREEN
Added comment: Cataracts are reported in individuals with both dominant and recessive disease, but appear more common in recessive disease.
Sources: Literature
Mendeliome v1.4277 RRAGA Zornitza Stark Marked gene: RRAGA as ready
Mendeliome v1.4277 RRAGA Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4277 Zornitza Stark Copied gene RRAGA from panel Cataract
Mendeliome v1.4277 RRAGA Zornitza Stark gene: RRAGA was added
gene: RRAGA was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGA were set to 27294265
Phenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related
Cataract v0.584 RRAGA Zornitza Stark Marked gene: RRAGA as ready
Cataract v0.584 RRAGA Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence).
Cataract v0.584 RRAGA Zornitza Stark Classified gene: RRAGA as Amber List (moderate evidence)
Cataract v0.584 RRAGA Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence).
Cataract v0.583 RRAGA Zornitza Stark gene: RRAGA was added
gene: RRAGA was added to Cataract. Sources: Literature
Mode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGA were set to 27294265
Phenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related
Review for gene: RRAGA was set to AMBER
Added comment: PMID 27294265 reports 11 individuals from 3 unrelated families with heterozygous RRAGA variants presenting with autosomal dominant cataracts (juvenile-onset progressive posterior subcapsular cataract in 10 patients from 2 families; congenital nuclear cataract in 1 patient). The missense p.Leu60Arg co‑segregates with disease (LOD 2.975) and activates mTORC1 signalling in lens epithelial cells; the 5′‑UTR c.-16G>A reduces promoter activity (~80%). The missense variant is present in one of the multiplex families and in an independent individual -- appears that the two families are not related and these are independent events.

Nevertheless, two variants only and no direct functional work to link to cataract pathogenesis, hence Amber rating.
Sources: Literature
Cataract v0.582 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Cataract v0.582 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Cataract v0.582 RECQL4 Zornitza Stark Classified gene: RECQL4 as Green List (high evidence)
Cataract v0.582 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Cataract v0.581 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Cataract. Sources: Literature
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 40485636; 37228773; 36164748; 33294214
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, MIM# 268400
Review for gene: RECQL4 was set to GREEN
Added comment: Cataract is a feature of RTS.
Sources: Literature
Mendeliome v1.4276 PRX Zornitza Stark Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease type 4 MONDO:0018995 to Charcot-Marie-Tooth disease type 4 MONDO:0018995; Cataract, MONDO:0005129, PRX-related
Mendeliome v1.4275 PRX Zornitza Stark Publications for gene: PRX were set to 11133365; 11157804; 15197604; 21079185; 22847150; 10839370; 32460404; 31523542; 31426691
Mendeliome v1.4274 PRX Zornitza Stark edited their review of gene: PRX: Added comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism.; Changed publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691, 27081207, 36161833, 41230902; Changed phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900, Cataract, MONDO:0005129, PRX-related
Cataract v0.580 PRX Zornitza Stark Marked gene: PRX as ready
Cataract v0.580 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Cataract v0.580 PRX Zornitza Stark Classified gene: PRX as Green List (high evidence)
Cataract v0.580 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Cataract v0.579 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Cataract. Sources: Literature
Mode of inheritance for gene: PRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRX were set to 41230902; 36161833; 27081207
Phenotypes for gene: PRX were set to Cataract, MONDO:0005129, PRX-related
Review for gene: PRX was set to GREEN
Added comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism.
Sources: Literature
Pituitary hormone deficiency v0.174 RUNDC1 Lilian Downie gene: RUNDC1 was added
gene: RUNDC1 was added to Pituitary hormone deficiency. Sources: Other
Mode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies
Added comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay.
Dr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together)
Sources: Other
Mendeliome v1.4274 RUNDC1 Lilian Downie gene: RUNDC1 was added
gene: RUNDC1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies
Review for gene: RUNDC1 was set to AMBER
Added comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay.
Dr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together)
Sources: Other
Cataract v0.578 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cataract v0.578 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cataract v0.578 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Cataract v0.578 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cataract v0.577 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 38137617; 28765568
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Review for gene: POMGNT1 was set to GREEN
Added comment: Cataracts are a feature of the more severe end of the spectrum of disease associated with this gene.
Sources: Literature
Cataract v0.576 PARK7 Zornitza Stark Marked gene: PARK7 as ready
Cataract v0.576 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Cataract v0.576 PARK7 Zornitza Stark Classified gene: PARK7 as Green List (high evidence)
Cataract v0.576 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Cataract v0.575 PARK7 Zornitza Stark gene: PARK7 was added
gene: PARK7 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARK7 were set to 40127637; 31028127; 27460976
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset, MIM# 606324
Review for gene: PARK7 was set to GREEN
Added comment: PMID 27460976, 31028127 and 40127637 report a total of 3 individuals from 3 unrelated families with autosomal recessive PARK7 loss‑of‑function variants presenting with early‑onset Parkinson disease and bilateral cataracts (often accompanied by hearing loss and distal spinal amyotrophy). Functional studies in patient fibroblasts demonstrate reduced DJ‑1 protein and mitochondrial dysfunction.
Sources: Literature
Cataract v0.574 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Cataract v0.574 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Cataract v0.574 NOD2 Zornitza Stark Classified gene: NOD2 as Green List (high evidence)
Cataract v0.574 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Cataract v0.573 NOD2 Zornitza Stark gene: NOD2 was added
gene: NOD2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOD2 were set to 38180755
Phenotypes for gene: NOD2 were set to Blau syndrome, MIM# 186580
Review for gene: NOD2 was set to GREEN
Added comment: PMID 38180755 reports 13 individuals from 3 unrelated families (plus 8 sporadic cases) with Blau syndrome caused by heterozygous gain‑of‑function NOD2 variants; 8 patients required cataract surgery.
Sources: Literature
Cataract v0.572 MVK Zornitza Stark Marked gene: MVK as ready
Cataract v0.572 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Cataract v0.572 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Cataract v0.572 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Cataract v0.571 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Cataract. Sources: Literature
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 33917151
Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM# 610377
Review for gene: MVK was set to GREEN
Added comment: PMID 33917151 reports on a large cohort of individuals with MVK-related disease in an attempt to establish genotype-phenotype correlations. This includes 15 individuals with homozygous missense MVK variants (p.Leu264Phe, p.Ala334Thr) presenting with cataract. All seven patients homozygous for p.Leu264Phe had cataract and 13 of 15 cataract patients carried either p.Leu264Phe or p.Ala334Thr.
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v1.38 Zornitza Stark Copied gene MT-TP from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.38 MT-TP Zornitza Stark gene: MT-TP was added
gene: MT-TP was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Red,Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TP.
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Publications for gene: MT-TP were set to 7689388; 11196116; 19223931; 23696415; 19273760; 27536729; 27816331; 32305257; 32419253
Phenotypes for gene: MT-TP were set to Mitochondrial disease (MONDO:0044970), MT-TP-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 WDR11 Elena Tucker reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 FGF8 Elena Tucker reviewed gene: FGF8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 FGFR1 Elena Tucker reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 KISS1R Elena Tucker reviewed gene: KISS1R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 PROK2 Elena Tucker reviewed gene: PROK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 SEMA3A Elena Tucker reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID:22416012, 22927827, 32060892, 31200363, 33819414; Phenotypes: hypogonadotropic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 TYMP Elena Tucker gene: TYMP was added
gene: TYMP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to PMID: 41163431; PMID: 35341481
Phenotypes for gene: TYMP were set to Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1
Penetrance for gene: TYMP were set to Complete
Review for gene: TYMP was set to AMBER
Added comment: Two independent cases of POI in the literature associated with pathogenic TYMP variants and MNGIE disease (and additionally, cases of hypergonadotropic hypogonadism in males). Mitochondrial depletion is a known mechanism for POI. POI can present before overt neurological involvement.
Sources: Literature
Genomic newborn screening: ICoNS v0.29 RPS19 Jorune Balciuniene changed review comment from: Well established gene-disease association.
Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity
Sources: Expert Review; to: Well established gene-disease association.
Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity
The standard of care is corticosteroid treatment, recommended in children at age 12 months or older, and red blood cell transfusions. The only curative therapy is bone marrow transplantation

Sources: Expert Review
Genomic newborn screening: ICoNS v0.29 RPS19 Jorune Balciuniene gene: RPS19 was added
gene: RPS19 was added to Genomic newborn screening: ICoNS. Sources: Expert Review
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 20301769; 30503522
Phenotypes for gene: RPS19 were set to Diamond-Blackfan Anemia
Review for gene: RPS19 was set to GREEN
Added comment: Well established gene-disease association.
Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity
Sources: Expert Review
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Classified gene: ZAP70 as Green List (high evidence)
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.28 ZAP70 Zornitza Stark reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.28 ZAP70 Lilian Downie gene: ZAP70 was added
gene: ZAP70 was added to Genomic newborn screening: ICoNS. Sources: Expert List
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAP70 were set to PMID: 20301777; 32579701
Phenotypes for gene: ZAP70 were set to Immunodeficiency MIM#176947
Review for gene: ZAP70 was set to GREEN
Added comment: • Gene disease association evidence
• Curation by ClinGen
• Treatability and evidence behind that including impact of treatment
• Issues with genomic screening (exome/genome/pseudogene etc)
• Any variants of interest
• Who has excluded it and why
• Traditional newborn screening in any jurisdiction


Strong gene disease association: definitive by ClinGen 2022

Immunodeficiency characterized by selective T-cell defect

Childhood onset, severe (death prior to 2 without treatment)

Treatment:
Supportive care includes immediate intravenous immunoglobulin (IVIG) and antibacterial, antifungal, antiviral, and Pneumocystis jiroveci prophylaxis to control and reduce the occurrence of infections.
Allogeneic HSCT to reconstitute the immune system, preferably prior to the onset of infections.
Prevention of secondary complications: Use of irradiated, leukoreduced, cytomegalovirus (CMV)-safe blood products; deferment of immunizations until immune reconstitution; consideration for formula feeds in place of breast feeding until CMV status of mother is known.

Symptoms include recurrent infections, including severe lower respiratory infections and oral candidiasis, chronic diarrhea, and failure to thrive. Combined immunodeficiencies such as ZAP-70 deficiency or major histocompatibility complex (MHC) class I and II gene expression deficiency may not be detected with the TREC assay as T-cell development is intact beyond the point of T-cell receptor (TCR) gene recombination (PMID: 32579701)

Excluded by BeginNGS? treatability ?now included (on Rx Genes)
Sources: Expert List
Mendeliome v1.4273 SCAMP5 Lucy Spencer Phenotypes for gene: SCAMP5 were changed from Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related; Epilepsy (MONDO:0005027), SCAMP5-related
Mendeliome v1.4272 SCAMP5 Lucy Spencer Publications for gene: SCAMP5 were set to 31439720; 33390987
Mendeliome v1.4271 SCAMP5 Lucy Spencer Mode of inheritance for gene: SCAMP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4270 SCAMP5 Lucy Spencer reviewed gene: SCAMP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 32020363; Phenotypes: Epilepsy (MONDO:0005027), SCAMP5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Kidneyome_SuperPanel v9.170 Bryony Thompson Changed child panels to: Renal Ciliopathies and Nephronophthisis; Renal Tubulopathies and related disorders; Hypertension and Aldosterone disorders; Renal Tubulointerstitial Disease; Haematuria_Alport; Amyloidosis; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT); Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN
Cataract v0.570 MBTPS1 Zornitza Stark Marked gene: MBTPS1 as ready
Cataract v0.570 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Cataract v0.570 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Cataract v0.570 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Cataract v0.569 MBTPS1 Zornitza Stark gene: MBTPS1 was added
gene: MBTPS1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 38337829; 38135440; 36714646; 35362222; 32420688
Phenotypes for gene: MBTPS1 were set to CAOP syndrome, MIM# 621252; Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM# 618392
Review for gene: MBTPS1 was set to GREEN
Added comment: PMID 32420688, 35362222, 36714646, 38135440 and 38337829 collectively report six unrelated families with biallelic loss‑of‑function MBTPS1 variants causing (i) a spondyloepimetaphyseal/spondyloepiphyseal dysplasia with congenital cataract, (ii) CAOP syndrome (cataract, alopecia, oral mucosal disorder, psoriasis‑like skin disease).
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 Bryony Thompson Added reviews for gene FGF10 from panel Mendeliome
Mendeliome v1.4270 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4270 FGF10 Bryony Thompson changed review comment from: 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; to: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.
Mendeliome v1.4270 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4270 FGF10 Bryony Thompson edited their review of gene: FGF10: Added comment: 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; Changed rating: AMBER; Changed publications: 30639323; Changed phenotypes: Familial primary pulmonary hypoplasia, MONDO:0009936; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4270 Bryony Thompson Copied gene RPL23 from panel Haematological malignancies
Mendeliome v1.4270 RPL23 Bryony Thompson gene: RPL23 was added
gene: RPL23 was added to Mendeliome. Sources: Expert Review Red,Curated sources
Mode of inheritance for gene: RPL23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL23 were set to 28297620
Phenotypes for gene: RPL23 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Cataract v0.568 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Cataract v0.568 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Cataract v0.568 KIAA1109 Zornitza Stark Classified gene: KIAA1109 as Green List (high evidence)
Cataract v0.568 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Cataract v0.567 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Cataract. Sources: Literature
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 29290337
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM# 617822
Review for gene: KIAA1109 was set to GREEN
Added comment: PMID 29290337 reports 19 individuals from 10 unrelated families with autosomal‑recessive biallelic loss‑of‑function or hypomorphic missense variants in KIAA1109. Core features include severe brain malformations, arthrogryposis, microphthalmia and bilateral congenital cataract, plus cardiac, renal and limb anomalies. Functional studies in mouse, Drosophila and zebrafish demonstrate loss‑of‑function phenotypes that recapitulate the human disorder, supporting a loss‑of‑function (biallelic) disease mechanism.
Sources: Literature
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark changed review comment from: Cataracts are a core feature of the condition.
Sources: Literature; to: Deafness is a core feature of the condition.
Sources: Literature
Deafness_IsolatedAndComplex v1.320 Zornitza Stark Copied gene IARS2 from panel Cataract
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Cataract v0.566 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Cataract v0.566 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Cataract v0.566 IARS2 Zornitza Stark Classified gene: IARS2 as Green List (high evidence)
Cataract v0.566 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Cataract v0.565 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Review for gene: IARS2 was set to GREEN
Added comment: Cataracts are a core feature of the condition.
Sources: Literature
Cataract v0.564 GNAS Zornitza Stark Marked gene: GNAS as ready
Cataract v0.564 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Cataract v0.564 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Cataract v0.564 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Cataract v0.563 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Cataract. Sources: Literature
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAS were set to 29136292; 26387561
Phenotypes for gene: GNAS were set to Disorder of GNAS inactivation MONDO:0800466
Review for gene: GNAS was set to GREEN
Added comment: PMID 29136292 reports 10 unrelated families with heterozygous loss‑of‑function GNAS variants and cataract in 56% of pseudohypoparathyroidism patients; PMID 26387561 reports 4 unrelated families with GNAS mutations, 2 of which have cataract. Combined, at least 14 unrelated families (20 patients) show cataract associated with pseudohypoparathyroidism.
Sources: Literature
Cataract v0.562 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Cataract v0.562 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Cataract v0.562 GBA2 Zornitza Stark Classified gene: GBA2 as Green List (high evidence)
Cataract v0.562 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Cataract v0.561 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 38334933; 28052128
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, MIM# 614409
Review for gene: GBA2 was set to GREEN
Added comment: Multiple individuals reported with cataract.
Sources: Literature
Cataract v0.560 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Cataract v0.560 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Cataract v0.560 ERCC5 Zornitza Stark Classified gene: ERCC5 as Green List (high evidence)
Cataract v0.560 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Cataract v0.559 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 33766032; 32557569
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780
Review for gene: ERCC5 was set to GREEN
Added comment: Cataracts are a reported feature.
Sources: Literature
Cataract v0.558 EBP Zornitza Stark Marked gene: EBP as ready
Cataract v0.558 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Cataract v0.558 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Cataract v0.558 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Cataract v0.557 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Cataract. Sources: Literature
Mode of inheritance for gene: EBP 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: EBP were set to 33147667; 29851033; 25846959; 25814754
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960; MEND syndrome, MIM# 300960
Review for gene: EBP was set to GREEN
Added comment: Cataracts are a feature of both conditions associated with this gene.
Sources: Literature
Cataract v0.556 DMPK_DM1_CTG Zornitza Stark Marked STR: DMPK_DM1_CTG as ready
Cataract v0.556 DMPK_DM1_CTG Zornitza Stark Str: dmpk_dm1_ctg has been classified as Green List (High Evidence).
Cataract v0.556 Zornitza Stark Copied STR DMPK_DM1_CTG from panel Mendeliome
Cataract v0.556 DMPK_DM1_CTG Zornitza Stark STR: DMPK_DM1_CTG was added
STR: DMPK_DM1_CTG was added to Cataract. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: DMPK_DM1_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_DM1_CTG were set to 20301344; 29325606
Phenotypes for STR: DMPK_DM1_CTG were set to Myotonic dystrophy 1 MIM#160900
Mendeliome v1.4269 LAMP3 Zornitza Stark Publications for gene: LAMP3 were set to 40023045; 34161347
Mendeliome v1.4268 LAMP3 Zornitza Stark Classified gene: LAMP3 as Green List (high evidence)
Mendeliome v1.4268 LAMP3 Zornitza Stark Gene: lamp3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v1.5 LAMP3 Zornitza Stark Publications for gene: LAMP3 were set to 40023045; 34161347
Mendeliome v1.4267 LAMP3 Zornitza Stark edited their review of gene: LAMP3: Added comment: PMID 41653023 reports 13 individuals with biallelic variants in LAMP3, presenting with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants had ground glass opacities early in life and lung fibrosis later in life.; Changed rating: GREEN; Changed publications: 40023045, 34161347, 41653023
Pulmonary Fibrosis_Interstitial Lung Disease v1.4 LAMP3 Zornitza Stark Classified gene: LAMP3 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v1.4 LAMP3 Zornitza Stark Gene: lamp3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 LAMP3 Zornitza Stark edited their review of gene: LAMP3: Added comment: PMID 41653023 reports 13 individuals with biallelic variants in LAMP3, presenting with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants had ground glass opacities early in life and lung fibrosis later in life.; Changed rating: GREEN; Changed publications: 40023045, 34161347, 41653023
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 LAMP3 Renee Santoreneos Deleted their review
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 LAMP3 Renee Santoreneos reviewed gene: LAMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: GIM 102531, 40023045, 34161347; Phenotypes: Interstitial lung disease, MONDO:0015925, LAMP3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.138 RAD51C Bryony Thompson Classified gene: RAD51C as Amber List (moderate evidence)
Bone Marrow Failure v1.138 RAD51C Bryony Thompson Gene: rad51c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4267 CPT1C Zornitza Stark Tag disputed tag was added to gene: CPT1C.
Mendeliome v1.4267 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 23973755; 30564185
Mendeliome v1.4266 CPT1C Zornitza Stark Classified gene: CPT1C as Amber List (moderate evidence)
Mendeliome v1.4266 CPT1C Zornitza Stark Gene: cpt1c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4265 CPT1C Zornitza Stark edited their review of gene: CPT1C: Added comment: Disputed in PMID 41312619: among >170 CPT1C LOF carriers in the UKBB (n = 150,119), none exhibited HSP phenotypes. Among 585 HSP patients from Can-HSP, there were no patients with CPT1C LOF variants. In the GENESIS cohort (n = 21,217), three individuals carrying CPT1C LOF variants were also diagnosed with HSP; however, all three also carried pathogenic variants in established HSP-associated genes.; Changed rating: AMBER; Changed publications: 30564185, 41312619
Hereditary Spastic Paraplegia v1.142 CPT1C Zornitza Stark Marked gene: CPT1C as ready
Hereditary Spastic Paraplegia v1.142 CPT1C Zornitza Stark Gene: cpt1c has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.142 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 30911584; 30564185; 23973755
Hereditary Spastic Paraplegia v1.141 CPT1C Zornitza Stark Tag disputed tag was added to gene: CPT1C.
Hereditary Spastic Paraplegia v1.141 CPT1C Zornitza Stark Classified gene: CPT1C as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v1.141 CPT1C Zornitza Stark Gene: cpt1c has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.140 CPT1C Zornitza Stark edited their review of gene: CPT1C: Added comment: Disputed in PMID 41312619: among >170 CPT1C LOF carriers in the UKBB (n = 150,119), none exhibited HSP phenotypes. Among 585 HSP patients from Can-HSP, there were no patients with CPT1C LOF variants. In the GENESIS cohort (n = 21,217), three individuals carrying CPT1C LOF variants were also diagnosed with HSP; however, all three also carried pathogenic variants in established HSP-associated genes.; Changed rating: AMBER; Changed publications: 30564185, 41312619
Cataract v0.555 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Cataract v0.555 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Cataract v0.555 CPAMD8 Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence)
Cataract v0.555 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Cataract v0.554 CPAMD8 Zornitza Stark gene: CPAMD8 was added
gene: CPAMD8 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 39747279; 32085876; 27839872
Phenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM# 617319
Review for gene: CPAMD8 was set to GREEN
Added comment: Multiple reports of cataract as part of the ocular phenotype associated with this condition.
Sources: Literature
Cataract v0.553 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Cataract v0.553 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Cataract v0.553 COL4A5 Zornitza Stark Classified gene: COL4A5 as Green List (high evidence)
Cataract v0.553 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Cataract v0.552 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COL4A5 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: COL4A5 were set to 37162688; 33015404; 32883240
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked, MIM# 301050
Review for gene: COL4A5 was set to GREEN
Added comment: PMIDs 32883240, 33015404 and 37162688 report three unrelated families with X‑linked Alport syndrome presenting with cataract (often with anterior lenticonus and other ocular anomalies). Cataract is part of the ocular abnormalities observed in Alport syndrome.
Sources: Literature
Cataract v0.551 CNBP_DM2_CCTG Zornitza Stark Marked STR: CNBP_DM2_CCTG as ready
Cataract v0.551 CNBP_DM2_CCTG Zornitza Stark Str: cnbp_dm2_cctg has been classified as Green List (High Evidence).
Cataract v0.551 CNBP_DM2_CCTG Zornitza Stark Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088
Cataract v0.550 CNBP_DM2_CCTG Zornitza Stark reviewed STR: CNBP_DM2_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 37123986, 34024776, 29086017, 28491317; Phenotypes: Myotonic dystrophy 2 MIM#602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.550 Zornitza Stark Copied STR CNBP_DM2_CCTG from panel Repeat Disorders
Cataract v0.550 CNBP_DM2_CCTG Zornitza Stark STR: CNBP_DM2_CCTG was added
STR: CNBP_DM2_CCTG was added to Cataract. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: CNBP_DM2_CCTG.
Mode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088
Phenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668
Cataract v0.549 CLPB Zornitza Stark Marked gene: CLPB as ready
Cataract v0.549 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Cataract v0.549 CLPB Zornitza Stark Classified gene: CLPB as Green List (high evidence)
Cataract v0.549 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Cataract v0.548 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Cataract. Sources: Literature
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 37548286; 36074910; 28687938; 25597510
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271
Review for gene: CLPB was set to GREEN
Added comment: PMIDs 25595726, 25597510, 25597511, 28687938, 36074910 and 37548286 collectively report 35 individuals from 21 unrelated families with biallelic loss‑of‑function CLPB variants presenting with congenital cataracts, neutropenia, 3‑methylglutaconic aciduria and multisystem neurodevelopmental impairment.
Sources: Literature
Cataract v0.547 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Cataract v0.547 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Cataract v0.547 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Cataract v0.547 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Cataract v0.546 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 38597178; 32436650
Phenotypes for gene: CHD7 were set to CHARGE syndrome, MIM# 214800
Review for gene: CHD7 was set to AMBER
Added comment: PMID 38597178 reports six unrelated individuals (six families) with heterozygous loss‑of‑function CHD7 variants presenting with CHARGE syndrome and cataract, with detailed ophthalmic phenotyping; PMID 32436650 reports one additional individual (one family) with CHARGE syndrome and cataract caused by a heterozygous missense CHD7 variant.

Overall, cataract is present in a small proportion of affected individuals.
Sources: Literature
Cataract v0.545 CENPF Zornitza Stark Marked gene: CENPF as ready
Cataract v0.545 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Cataract v0.545 CENPF Zornitza Stark Classified gene: CENPF as Amber List (moderate evidence)
Cataract v0.545 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Cataract v0.544 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to Cataract. Sources: Literature
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome, MIM# 243605
Review for gene: CENPF was set to AMBER
Added comment: PMID 26820108 reports 4 individuals from 2 families with biallelic truncating CENPF variants presenting with Strømme syndrome, which includes congenital cataract, microphthalmia, intestinal atresia, and microcephaly. Cataracts not consistently reported in other affected individuals.
Sources: Literature
Cataract v0.543 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Cataract v0.543 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Cataract v0.543 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Cataract v0.543 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Cataract v0.542 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318
Review for gene: CAPN15 was set to GREEN
Added comment: PMID 32885237 reports five individuals from four unrelated families with biallelic missense CAPN15 variants presenting with congenital ocular anomalies (microphthalmia, coloboma, cataract), growth delay, developmental delay, autism and sensorineural hearing loss. Segregation confirms autosomal recessive inheritance. Capn15 knockout mice recapitulate eye anomalies and reduced growth, supporting pathogenicity.
Sources: Literature
Cataract v0.541 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Cataract v0.541 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cataract v0.541 ATAD3A Zornitza Stark Classified gene: ATAD3A as Green List (high evidence)
Cataract v0.541 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cataract v0.540 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Cataract. Sources: Literature
Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 33845882; 32607449
Phenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MIM# 618810
Review for gene: ATAD3A was set to GREEN
Added comment: PMID 33845882 reports 13 individuals from 8 unrelated families with recessive ATAD3A loss‑of‑function variants causing a neuro‑mitochondrial syndrome that includes congenital cataract; PMID 32607449 adds a consanguineous family with a homozygous splice‑site loss‑of‑function variant and early bilateral cataracts.
Sources: Literature
Cataract v0.539 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Cataract v0.539 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Cataract v0.539 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Cataract v0.539 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Cataract v0.538 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 39792033; 26066342
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM# 608104
Review for gene: ALG8 was set to GREEN
Added comment: Cataract is a reported feature of this CDG.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.199 Bryony Thompson Copied gene UPK3A from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.199 UPK3A Bryony Thompson gene: UPK3A was added
gene: UPK3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: UPK3A.
Mode of inheritance for gene: UPK3A was set to Unknown
Phenotypes for gene: UPK3A were set to Congenital anomaly of kidney and urinary tract, MONDO:0019719
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.198 Bryony Thompson Copied gene TNXB from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.198 TNXB Bryony Thompson gene: TNXB was added
gene: TNXB was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNXB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNXB were set to 23620400
Phenotypes for gene: TNXB were set to Vesicoureteral reflux 8, MIM# 615963
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.197 Bryony Thompson Copied gene TBX18 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.197 TBX18 Bryony Thompson gene: TBX18 was added
gene: TBX18 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX18 were set to 26235987
Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2, MIM# 143400
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.196 Bryony Thompson Copied gene SRGAP1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.196 SRGAP1 Bryony Thompson gene: SRGAP1 was added
gene: SRGAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRGAP1 were set to 26026792
Phenotypes for gene: SRGAP1 were set to CAKUT, MONDO:0019719, SRGAP1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.195 Bryony Thompson Copied gene SOX17 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.195 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX17 were set to 20960469
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3; OMIM #613674
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.194 Bryony Thompson Copied gene SLIT2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.194 SLIT2 Bryony Thompson gene: SLIT2 was added
gene: SLIT2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLIT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLIT2 were set to 26026792; 15130495
Phenotypes for gene: SLIT2 were set to CAKUT MONDO:0019719, SLIT2-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.193 Bryony Thompson Copied gene SLC20A1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.193 SLC20A1 Bryony Thompson gene: SLC20A1 was added
gene: SLC20A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A1 were set to 32850778; 27013921
Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.192 Bryony Thompson Copied gene PAX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.192 PAX2 Bryony Thompson gene: PAX2 was added
gene: PAX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX2 were set to 21654726; 24676634; 31060108; 32203253
Phenotypes for gene: PAX2 were set to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.191 Bryony Thompson Copied gene NPHP3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.191 NPHP3 Bryony Thompson gene: NPHP3 was added
gene: NPHP3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.190 Bryony Thompson Copied gene HOXA4 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.190 HOXA4 Bryony Thompson gene: HOXA4 was added
gene: HOXA4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.189 Bryony Thompson Copied gene FGF8 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.189 FGF8 Bryony Thompson gene: FGF8 was added
gene: FGF8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.188 Bryony Thompson Copied gene FGF20 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.188 FGF20 Bryony Thompson gene: FGF20 was added
gene: FGF20 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF20 were set to 22698282
Phenotypes for gene: FGF20 were set to Renal hypodysplasia/aplasia 2, MIM#615721
Mendeliome v1.4265 Bryony Thompson Copied gene CDC5L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Mendeliome v1.4265 CDC5L Bryony Thompson gene: CDC5L was added
gene: CDC5L was added to Mendeliome. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC5L were set to 24429398
Phenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.187 Bryony Thompson Copied gene CDC5L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.187 CDC5L Bryony Thompson gene: CDC5L was added
gene: CDC5L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Expert list
Mode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC5L were set to 24429398
Phenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.186 Bryony Thompson Copied gene BMP7 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.186 BMP7 Bryony Thompson gene: BMP7 was added
gene: BMP7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Expert list
Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP7 were set to 24429398
Phenotypes for gene: BMP7 were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.185 Bryony Thompson Copied gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.185 BICC1 Bryony Thompson gene: BICC1 was added
gene: BICC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Phenotypes for gene: BICC1 were set to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.184 Bryony Thompson Copied gene ARID3A from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.184 ARID3A Bryony Thompson gene: ARID3A was added
gene: ARID3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARID3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARID3A were set to 40774958
Phenotypes for gene: ARID3A were set to Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 Bryony Thompson Copied Region ISCA-37432-Gain from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 ISCA-37432-Gain Bryony Thompson Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert list,Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 Bryony Thompson Copied Region ISCA-37432-Gain from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 ISCA-37432-Gain Bryony Thompson Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert list,Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.182 Bryony Thompson Copied gene WNT4 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.182 WNT4 Bryony Thompson gene: WNT4 was added
gene: WNT4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT4 were set to 18179883
Phenotypes for gene: WNT4 were set to SERKAL syndrome; OMIM #611812
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 Bryony Thompson Copied gene UMOD from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 UMOD Bryony Thompson gene: UMOD was added
gene: UMOD was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: UMOD was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 Bryony Thompson Copied gene TBC1D31 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 TBC1D31 Bryony Thompson gene: TBC1D31 was added
gene: TBC1D31 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Literature
Mode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D31 were set to 37468454
Phenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 Bryony Thompson Copied gene SIX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 SIX2 Bryony Thompson gene: SIX2 was added
gene: SIX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIX2 were set to 24429398
Phenotypes for gene: SIX2 were set to CAKUT, MONDO:0019719, SIX2-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 Bryony Thompson Copied gene HOXB6 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 HOXB6 Bryony Thompson gene: HOXB6 was added
gene: HOXB6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXB6 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.179 Bryony Thompson Copied gene FGFR1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.179 FGFR1 Bryony Thompson gene: FGFR1 was added
gene: FGFR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 Bryony Thompson Copied gene CHD1L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 CHD1L Bryony Thompson gene: CHD1L was added
gene: CHD1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: CHD1L.
Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1L were set to 22146311; 24429398
Phenotypes for gene: CHD1L were set to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 Bryony Thompson Copied gene CBWD1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 CBWD1 Bryony Thompson gene: CBWD1 was added
gene: CBWD1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Literature
Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBWD1 were set to 31862704
Phenotypes for gene: CBWD1 were set to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 Bryony Thompson Copied gene WNT9B from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 WNT9B Bryony Thompson gene: WNT9B was added
gene: WNT9B was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review Amber,Literature,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT9B were set to PMID: 34145744
Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia, no OMIM #
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 Bryony Thompson Copied gene SOX11 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 SOX11 Bryony Thompson gene: SOX11 was added
gene: SOX11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 29459093; 24886874
Phenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 Bryony Thompson Copied gene PTCH1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 PTCH1 Bryony Thompson gene: PTCH1 was added
gene: PTCH1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Other
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Exstrophy-epispadias complex MONDO:0017919, PTCH1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 Bryony Thompson Copied gene DSTYK from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 DSTYK Bryony Thompson gene: DSTYK was added
gene: DSTYK was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
disputed tags were added to gene: DSTYK.
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSTYK were set to 23862974; 37746849; 34608560; 28618409
Phenotypes for gene: DSTYK were set to Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 Bryony Thompson Copied gene BCORL1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 BCORL1 Bryony Thompson gene: BCORL1 was added
gene: BCORL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 Bryony Thompson Copied gene TRAP1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 TRAP1 Bryony Thompson gene: TRAP1 was added
gene: TRAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAP1 were set to 24152966
Phenotypes for gene: TRAP1 were set to Syndromic disease, MONDO:0002254, TRAP1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 Bryony Thompson Copied gene TBC1D1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 TBC1D1 Bryony Thompson gene: TBC1D1 was added
gene: TBC1D1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 Bryony Thompson Copied gene ROBO2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 ROBO2 Bryony Thompson gene: ROBO2 was added
gene: ROBO2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO2 were set to 18235093; 19350278; 24429398; 17357069; 26026792; 29194579; 34059960
Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2 - MIM#610878; CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 Bryony Thompson Copied gene RET from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 RET Bryony Thompson gene: RET was added
gene: RET was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 22729463
Phenotypes for gene: RET were set to CAKUT MONDO:0019719, RET-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 Bryony Thompson Copied gene NPNT from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 NPNT Bryony Thompson gene: NPNT was added
gene: NPNT was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,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, MONDO:0018470, NPNT-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 Bryony Thompson Copied gene LRIG2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 LRIG2 Bryony Thompson gene: LRIG2 was added
gene: LRIG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIG2 were set to 23313374; 27855655; 30885509
Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, MIM# 615112
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 Bryony Thompson Copied gene LIFR from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 LIFR Bryony Thompson gene: LIFR was added
gene: LIFR was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIFR were set to 28334964; 38025229
Phenotypes for gene: LIFR were set to CAKUT MONDO:0019719, LIFR-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.171 Bryony Thompson Copied gene ITGA8 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.171 ITGA8 Bryony Thompson gene: ITGA8 was added
gene: ITGA8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA8 were set to 24439109
Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, MIM# 191830
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 Bryony Thompson Copied gene HNF1B from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 HNF1B Bryony Thompson gene: HNF1B was added
gene: HNF1B was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 Bryony Thompson Copied gene GATA3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 GATA3 Bryony Thompson gene: GATA3 was added
gene: GATA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA3 were set to 10935639; 11389161; 21120445; 26316437; 25771973; 27387476; 30396722
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.169 Bryony Thompson Copied gene HPSE2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.169 HPSE2 Bryony Thompson gene: HPSE2 was added
gene: HPSE2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPSE2 were set to 25145936; 23313374; 33558177
Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1 MIM#236730
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 Bryony Thompson Copied gene GREB1L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 GREB1L Bryony Thompson gene: GREB1L was added
gene: GREB1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to 29100091
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM# 617805
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 Bryony Thompson Copied gene GFRA1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 GFRA1 Bryony Thompson gene: GFRA1 was added
gene: GFRA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172; 34737117
Phenotypes for gene: GFRA1 were set to Renal hypodysplasia/aplasia 4, MIM# 619887
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.167 Bryony Thompson Copied gene CHRNA3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.167 CHRNA3 Bryony Thompson gene: CHRNA3 was added
gene: CHRNA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 Bryony Thompson Copied gene CDX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 CDX2 Bryony Thompson gene: CDX2 was added
gene: CDX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDX2 were set to 29177441; 34671974
Phenotypes for gene: CDX2 were set to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 Bryony Thompson Copied gene BNC2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 BNC2 Bryony Thompson gene: BNC2 was added
gene: BNC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert list,Expert Review Green,Literature
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to PMID: 31656805, 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.165 Bryony Thompson Added reviews for gene FOXC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.164 Bryony Thompson Added reviews for gene FOXC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.163 Bryony Thompson Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic to Congenital anomalies of the kidney and urinary tract (CAKUT)
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v1.178 Bryony Thompson Copied gene YARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.178 YARS Bryony Thompson gene: YARS was added
gene: YARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YARS were set to 16429158; 24354524; 31587308; 26725087
Phenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012
Hereditary Neuropathy v1.177 Bryony Thompson Copied gene WNK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.177 WNK1 Bryony Thompson gene: WNK1 was added
gene: WNK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 15060842; 15911806; 15455397; 16534117
Phenotypes for gene: WNK1 were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309
Hereditary Neuropathy v1.176 Bryony Thompson Copied gene VWA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.176 VWA1 Bryony Thompson gene: VWA1 was added
gene: VWA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to 33459760; 33693694; 33559681
Phenotypes for gene: VWA1 were set to Hereditary motor neuropathy
Hereditary Neuropathy v1.175 Bryony Thompson Copied gene VRK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.175 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 31560180; 32242460; 31178479; 31837156; 30847374
Phenotypes for gene: VRK1 were set to Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Hereditary Neuropathy v1.174 Bryony Thompson Copied gene VCP from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.174 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 25125609; 25878907; 32165109
Phenotypes for gene: VCP were set to Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Mode of pathogenicity for gene: VCP was set to Other
Hereditary Neuropathy v1.173 Bryony Thompson Copied gene VAPB from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.173 VAPB Bryony Thompson gene: VAPB was added
gene: VAPB was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915
Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
Hereditary Neuropathy v1.172 Bryony Thompson Copied gene UBA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.172 UBA1 Bryony Thompson gene: UBA1 was added
gene: UBA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311
Phenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830
Hereditary Neuropathy v1.171 Bryony Thompson Copied gene TRPV4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.171 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Hereditary Neuropathy v1.171 Bryony Thompson Copied gene TRIM2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.171 TRIM2 Bryony Thompson gene: TRIM2 was added
gene: TRIM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM2 were set to 23562820; 25893792; 18687884; 32815244; 32205255; 25893792
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208; HMSN
Hereditary Neuropathy v1.170 Bryony Thompson Added reviews for gene TFG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.169 Bryony Thompson Copied gene TFG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.169 TFG Bryony Thompson gene: TFG was added
gene: TFG was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFG were set to 25098539; 23553329; 22883144; 31449671; 31111683
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
Hereditary Neuropathy v1.168 Bryony Thompson Copied gene SYT2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.168 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYT2 were set to 25192047; 30533528; 26519543
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic; HMSN
Hereditary Neuropathy v1.167 Bryony Thompson Copied gene SPTLC2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.167 SPTLC2 Bryony Thompson gene: SPTLC2 was added
gene: SPTLC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 20920666; 23658386; 31509666; 30866134
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; HSAN/SFN
Hereditary Neuropathy v1.167 Bryony Thompson Copied gene SPTLC1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.167 SPTLC1 Bryony Thompson gene: SPTLC1 was added
gene: SPTLC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712; 26681808
Phenotypes for gene: SPTLC1 were set to Juvenile amyotrophic lateral sclerosis-27, MIM#620285; HSAN/SFN; Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Hereditary Neuropathy v1.166 Bryony Thompson Copied gene SPTAN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.166 SPTAN1 Bryony Thompson gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 33578420; 31332438
Phenotypes for gene: SPTAN1 were set to Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Penetrance for gene: SPTAN1 were set to Incomplete
Hereditary Neuropathy v1.165 Bryony Thompson Copied gene SPG11 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.165 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 26556829; 33581793
Phenotypes for gene: SPG11 were set to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X; MONDO:0014726
Hereditary Neuropathy v1.165 Bryony Thompson Copied gene SORD from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.165 SORD Bryony Thompson gene: SORD was added
gene: SORD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to 32367058
Phenotypes for gene: SORD were set to isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912
Hereditary Neuropathy v1.164 Bryony Thompson Copied gene SMN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.164 SMN1 Bryony Thompson gene: SMN1 was added
gene: SMN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV tags were added to gene: SMN1.
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, MIM# 253300; Spinal muscular atrophy-2, MIM# 253550; Spinal muscular atrophy-3, MIM# 253400; Spinal muscular atrophy-4, MIM# 271150
Hereditary Neuropathy v1.163 Bryony Thompson Copied gene SLC5A7 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.163 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC5A7 were set to 23141292; 15173594; 29782645; 29582019
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Hereditary Neuropathy v1.162 Bryony Thompson Copied gene SIGMAR1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.162 SIGMAR1 Bryony Thompson gene: SIGMAR1 was added
gene: SIGMAR1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to 31511340
Phenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ)
Hereditary Neuropathy v1.161 Bryony Thompson Copied gene SH3TC2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.161 SH3TC2 Bryony Thompson gene: SH3TC2 was added
gene: SH3TC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SH3TC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SH3TC2 were set to 19744956; 20220177; 19744956; 20028792
Phenotypes for gene: SH3TC2 were set to HMSN; Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Hereditary Neuropathy v1.160 Bryony Thompson Copied gene SEPT9 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.160 SEPT9 Bryony Thompson gene: SEPT9 was added
gene: SEPT9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV, 5'UTR, founder, new gene name tags were added to gene: SEPT9.
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100; HMSN
Hereditary Neuropathy v1.159 Bryony Thompson Copied gene SCO2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.159 SCO2 Bryony Thompson gene: SCO2 was added
gene: SCO2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 29351582; 31844624; 35112411
Phenotypes for gene: SCO2 were set to autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
Hereditary Neuropathy v1.158 Bryony Thompson Copied gene SCN9A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.158 SCN9A Bryony Thompson gene: SCN9A was added
gene: SCN9A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set 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
Hereditary Neuropathy v1.157 Bryony Thompson Copied gene SCN11A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.157 SCN11A Bryony Thompson gene: SCN11A was added
gene: SCN11A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN11A were set to 24036948; 25118027; 30395542; 33884296; 32831372; 30046661
Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; MONDO:0014244
Hereditary Neuropathy v1.156 Bryony Thompson Copied gene SCN10A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.156 SCN10A Bryony Thompson gene: SCN10A was added
gene: SCN10A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN10A were set to 23115331; 33775738; 30731422; 30554136
Phenotypes for gene: SCN10A were set to HSAN/SFN; Episodic pain syndrome, familial, 2, 615551
Hereditary Neuropathy v1.155 Bryony Thompson Copied gene SBF2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.155 SBF2 Bryony Thompson gene: SBF2 was added
gene: SBF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF2 were set to 12554688; 15477569; 12687498; 15304601; 31772832; 31070812
Phenotypes for gene: SBF2 were set to HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563
Hereditary Neuropathy v1.154 Bryony Thompson Copied gene SARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.154 SARS Bryony Thompson gene: SARS was added
gene: SARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Expert Review Green,Literature
Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SARS were set to 36088542
Phenotypes for gene: SARS were set to Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Hereditary Neuropathy v1.153 Bryony Thompson Copied gene RTN2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.153 RTN2 Bryony Thompson gene: RTN2 was added
gene: RTN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN2 were set to 38527963
Phenotypes for gene: RTN2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Hereditary Neuropathy v1.152 Bryony Thompson Copied gene RETREG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.152 RETREG1 Bryony Thompson gene: RETREG1 was added
gene: RETREG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 19838196; 24327336; 31737055; 31596031
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN/SFN
Hereditary Neuropathy v1.151 Bryony Thompson Copied gene REEP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.151 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: REEP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: REEP1 were set to 27066569; 31872057; 22703882; 29124833
Phenotypes for gene: REEP1 were set 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
Mode of pathogenicity for gene: REEP1 was set to Other
Hereditary Neuropathy v1.150 Bryony Thompson Copied gene RCC1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.150 RCC1 Bryony Thompson gene: RCC1 was added
gene: RCC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCC1 were set to 40683276
Phenotypes for gene: RCC1 were set to Infection-induced acute-onset axonal neuropathy, MIM# 621333
Hereditary Neuropathy v1.149 Bryony Thompson Copied gene RAB7A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.149 RAB7A Bryony Thompson gene: RAB7A was added
gene: RAB7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB7A were set to 12545426; 17060578; 32326241; 29130394; 25614874
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Hereditary Neuropathy v1.148 Bryony Thompson Copied gene PRX from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.148 PRX Bryony Thompson gene: PRX was added
gene: PRX was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRX were set to 11133365; 11157804; 15197604; 21079185; 22847150; 10839370; 32460404; 31523542; 31426691
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease type 4 MONDO:0018995
Hereditary Neuropathy v1.147 Bryony Thompson Copied gene PRPS1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.147 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PRPS1 were set to 17701900; 24285972; 25491489; 25182139
Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN
Hereditary Neuropathy v1.146 Bryony Thompson Copied gene PRDM12 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.146 PRDM12 Bryony Thompson gene: PRDM12 was added
gene: PRDM12 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26005867; 33789102; 33010785; 32828702
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN
Hereditary Neuropathy v1.145 Bryony Thompson Copied gene PMP22 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.145 PMP22 Bryony Thompson gene: PMP22 was added
gene: PMP22 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: PMP22.
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP22 were set to Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN
Hereditary Neuropathy v1.144 Bryony Thompson Copied gene PLEKHG5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.144 PLEKHG5 Bryony Thompson gene: PLEKHG5 was added
gene: PLEKHG5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG5 were set to 17564964; 23777631; 23844677; 33492783; 33275839; 33220101; 23777631
Phenotypes for gene: PLEKHG5 were set to hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related
Hereditary Neuropathy v1.143 Bryony Thompson Copied gene PDK3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.143 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDK3 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: PDK3 were set to 23297365; 26801680; 27388934; 28902413
Phenotypes for gene: PDK3 were set to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN
Hereditary Neuropathy v1.142 Bryony Thompson Copied gene NGF from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.142 NGF Bryony Thompson gene: NGF was added
gene: NGF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 14976160; 20978020; 33884296; 32693191; 31685654; 30296891
Phenotypes for gene: NGF were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Hereditary Neuropathy v1.141 Bryony Thompson Copied gene NEFL from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.141 NEFL Bryony Thompson gene: NEFL was added
gene: NEFL was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEFL were set to 10841809; 12393795; 14733962; 24887401; 25877835; 20039262; 12566280; 29191368; 28902413
Phenotypes for gene: NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; HMSN; Charcot Marie Tooth disease, type 1F, 607734
Hereditary Neuropathy v1.140 Bryony Thompson Copied gene NEFH from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.140 NEFH Bryony Thompson gene: NEFH was added
gene: NEFH was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NEFH were set to 30992180; 27040688; 28709447
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN
Hereditary Neuropathy v1.139 Bryony Thompson Copied gene NDRG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.139 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: NDRG1.
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDRG1 were set to 10831399; 24136616; 33334662; 29724652; 29174527; 28776325
Phenotypes for gene: NDRG1 were set to HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085
Hereditary Neuropathy v1.138 Bryony Thompson Copied gene MTMR2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.138 MTMR2 Bryony Thompson gene: MTMR2 was added
gene: MTMR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTMR2 were set to 10802647; 16249189; 33653949; 32586600; 32488727; 31680794
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066
Hereditary Neuropathy v1.137 Bryony Thompson Copied gene MPZ from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.137 MPZ Bryony Thompson gene: MPZ was added
gene: MPZ was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MPZ were set to 19293842
Phenotypes for gene: MPZ were set 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
Hereditary Neuropathy v1.136 Bryony Thompson Copied gene MPV17 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.136 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 22508010; 26437932; 30298599
Phenotypes for gene: MPV17 were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Hereditary Neuropathy v1.135 Bryony Thompson Copied gene MME from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.135 MME Bryony Thompson gene: MME was added
gene: MME was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Royal Melbourne Hospital,GeneReviews
Mode of inheritance for gene: MME was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MME were set to 26991897; 27588448; 33144514; 31429185
Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866
Hereditary Neuropathy v1.134 Bryony Thompson Copied gene MFN2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.134 MFN2 Bryony Thompson gene: MFN2 was added
gene: MFN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 15064763; 15549395; 16437557; 20008656
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Hereditary Neuropathy v1.133 Bryony Thompson Copied gene LRSAM1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.133 LRSAM1 Bryony Thompson gene: LRSAM1 was added
gene: LRSAM1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LRSAM1 were set to 20865121; 22012984; 22781092; 27686364; 33568173; 33414056; 30996334
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753; HMSN
Hereditary Neuropathy v1.132 Bryony Thompson Copied gene WARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.132 WARS Bryony Thompson gene: WARS was added
gene: WARS was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Royal Melbourne Hospital
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WARS were set to 28369220; 31321409; 31069783
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, MIM#617721
Hereditary Neuropathy v1.131 Bryony Thompson Copied gene UBA5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.131 UBA5 Bryony Thompson gene: UBA5 was added
gene: UBA5 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBA5 were set to 32179706; 26872069
Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson edited their review of gene: RBM7: Changed rating: RED
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson Classified gene: RBM7 as Red List (low evidence)
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson Gene: rbm7 has been classified as Red List (Low Evidence).
Mendeliome v1.4264 RBM7 Bryony Thompson edited their review of gene: RBM7: Changed rating: RED
Mendeliome v1.4264 RBM7 Bryony Thompson Classified gene: RBM7 as Red List (low evidence)
Mendeliome v1.4264 RBM7 Bryony Thompson Gene: rbm7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v1.129 Bryony Thompson Copied gene RBM7 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.129 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like spinal motor neuropathy; dHMN/dSMA
Mendeliome v1.4263 PMP2 Bryony Thompson Classified gene: PMP2 as Green List (high evidence)
Mendeliome v1.4263 PMP2 Bryony Thompson Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.128 PMP2 Bryony Thompson Classified gene: PMP2 as Green List (high evidence)
Hereditary Neuropathy v1.128 PMP2 Bryony Thompson Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.127 Bryony Thompson Copied gene PMP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.127 PMP2 Bryony Thompson gene: PMP2 was added
gene: PMP2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMP2 were set to 26257172; 26828946; 27009151
Phenotypes for gene: PMP2 were set to HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Mode of pathogenicity for gene: PMP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Neuropathy v1.126 Bryony Thompson Copied gene PCK2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.126 PCK2 Bryony Thompson gene: PCK2 was added
gene: PCK2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK2 were set to 36845668
Phenotypes for gene: PCK2 were set to Peripheral neuropathy (MONDO#0005244), PCK2-related
Hereditary Neuropathy v1.125 Bryony Thompson Copied gene NAGLU from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.125 NAGLU Bryony Thompson gene: NAGLU was added
gene: NAGLU was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Amber,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; HSAN/SFN
Hereditary Neuropathy v1.124 Bryony Thompson Copied gene MYO9B from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.124 MYO9B Bryony Thompson gene: MYO9B was added
gene: MYO9B was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9B were set to PMID: 36260368; 40382695
Phenotypes for gene: MYO9B were set to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Hereditary Neuropathy v1.123 Bryony Thompson Copied gene LMNA from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.123 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 11799477; 28902413
Phenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Hereditary Neuropathy v1.122 Bryony Thompson Copied gene LITAF from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.122 LITAF Bryony Thompson gene: LITAF was added
gene: LITAF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LITAF were set to 12525712; 19541485; 23359569; 32665875; 28211240
Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995
Hereditary Neuropathy v1.121 Bryony Thompson Copied Region ISCA-37436-Loss from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.121 ISCA-37436-Loss Bryony Thompson Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37436-Loss.
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093
Phenotypes for Region: ISCA-37436-Loss were set to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Hereditary Neuropathy v1.120 Bryony Thompson Copied Region ISCA-37436-Gain from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.120 ISCA-37436-Gain Bryony Thompson Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to PMID: 32648354
Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A, MIM#118220
Hereditary Neuropathy v1.119 Bryony Thompson Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.119 VWA1_HMNMYO_GCGCGGAGCG Bryony Thompson STR: VWA1_HMNMYO_GCGCGGAGCG was added
STR: VWA1_HMNMYO_GCGCGGAGCG was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature
paediatric-onset tags were added to STR: VWA1_HMNMYO_GCGCGGAGCG.
Mode of inheritance for STR: VWA1_HMNMYO_GCGCGGAGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: VWA1_HMNMYO_GCGCGGAGCG were set to 33559681; 33459760
Phenotypes for STR: VWA1_HMNMYO_GCGCGGAGCG were set to Neuropathy, hereditary motor, with myopathic features MIM#619216
Hereditary Neuropathy v1.118 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.118 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature
paediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.
Mode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: PRDM12_HSAN8_GCC were set to 26005867
Phenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
Hereditary Neuropathy v1.117 Bryony Thompson Copied gene TRPA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.117 TRPA1 Bryony Thompson gene: TRPA1 was added
gene: TRPA1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPA1 were set to 20547126
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1; HSAN/SFN
Hereditary Neuropathy v1.116 Bryony Thompson Copied gene SH3BP4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.116 SH3BP4 Bryony Thompson gene: SH3BP4 was added
gene: SH3BP4 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SH3BP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH3BP4 were set to 24627108
Phenotypes for gene: SH3BP4 were set to HMSN
Hereditary Neuropathy v1.115 Bryony Thompson Copied gene NRG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.115 NRG1 Bryony Thompson gene: NRG1 was added
gene: NRG1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert list
Mode of inheritance for gene: NRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRG1 were set to 35485770
Phenotypes for gene: NRG1 were set to Peripheral neuropathy MONDO:0005244
Hereditary Neuropathy v1.114 Bryony Thompson Copied gene NAMPT from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.114 NAMPT Bryony Thompson gene: NAMPT was added
gene: NAMPT was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NAMPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAMPT were set to 41004591
Phenotypes for gene: NAMPT were set to hereditary motor and sensory neuropathy MONDO:0015358
Hereditary Neuropathy v1.114 Bryony Thompson Copied gene MED25 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.114 MED25 Bryony Thompson gene: MED25 was added
gene: MED25 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert list,Victorian Clinical Genetics Services
disputed tags were added to gene: MED25.
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 19290556; 30039206
Phenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease, type 2B2 MIM#605589
Hereditary Neuropathy v1.113 Bryony Thompson Copied gene MARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.113 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARS were set to 23729695; 24354524; 29655802
Phenotypes for gene: MARS were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary Neuropathy v1.112 Bryony Thompson Copied gene LAS1L from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.112 LAS1L Bryony Thompson gene: LAS1L was added
gene: LAS1L was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert Review
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAS1L were set to 24647030
Phenotypes for gene: LAS1L were set to congenital lethal motor neuron disease
Hereditary Neuropathy v1.111 Bryony Thompson Copied gene KLHL13 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.111 KLHL13 Bryony Thompson gene: KLHL13 was added
gene: KLHL13 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL13 were set to 24627108
Phenotypes for gene: KLHL13 were set to HMSN
Hereditary Neuropathy v1.110 Bryony Thompson Copied gene KIF5A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.110 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 30057544; 29892902; 28902413; 26403765; 25695920; 25008398
Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; HMSN
Hereditary Neuropathy v1.109 Bryony Thompson Copied gene KIF1B from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.109 KIF1B Bryony Thompson gene: KIF1B was added
gene: KIF1B was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1B were set to 11389829; 30126838; 25802885
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210; HMSN
Hereditary Neuropathy v1.108 Bryony Thompson Copied gene IQGAP3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.108 IQGAP3 Bryony Thompson gene: IQGAP3 was added
gene: IQGAP3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: IQGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IQGAP3 were set to 32341455
Phenotypes for gene: IQGAP3 were set to Hereditary neuropathy
Hereditary Neuropathy v1.107 Bryony Thompson Copied gene KIF1A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.107 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 21820098; 28708278
Phenotypes for gene: KIF1A were set to HSAN/SFN; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary Neuropathy v1.106 Bryony Thompson Copied gene JAG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.106 JAG1 Bryony Thompson gene: JAG1 was added
gene: JAG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 32065591; 25707699
Phenotypes for gene: JAG1 were set to Peripheral neuropathy
Hereditary Neuropathy v1.105 Bryony Thompson Copied gene ITPR3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.105 ITPR3 Bryony Thompson gene: ITPR3 was added
gene: ITPR3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITPR3 were set to 32949214; 24627108; 36302985; 39270020; 39560673
Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254
Mode of pathogenicity for gene: ITPR3 was set to Other
Hereditary Neuropathy v1.104 Bryony Thompson Copied gene INF2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.104 INF2 Bryony Thompson gene: INF2 was added
gene: INF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: INF2 were set to 22187985; 30680856; 25943269
Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN
Hereditary Neuropathy v1.103 Bryony Thompson Copied gene IGHMBP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.103 IGHMBP2 Bryony Thompson gene: IGHMBP2 was added
gene: IGHMBP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 25439726
Phenotypes for gene: IGHMBP2 were set to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
Hereditary Neuropathy v1.102 Bryony Thompson Copied gene HSPB8 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.102 HSPB8 Bryony Thompson gene: HSPB8 was added
gene: HSPB8 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB8 were set to 15122253; 15565283; 29029362; 28780615; 28144995; 26718575
Phenotypes for gene: HSPB8 were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673
Hereditary Neuropathy v1.101 Bryony Thompson Copied gene HSPB3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.101 HSPB3 Bryony Thompson gene: HSPB3 was added
gene: HSPB3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB3 were set to 20142617; 27549087
Phenotypes for gene: HSPB3 were set to HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary Neuropathy v1.100 Bryony Thompson Copied gene HSPB1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.100 HSPB1 Bryony Thompson gene: HSPB1 was added
gene: HSPB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPB1 were set to 21785432; 15122254; 18832141; 32639100; 32334137; 33943041; 35328016
Phenotypes for gene: HSPB1 were set to Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687
Hereditary Neuropathy v1.99 Bryony Thompson Copied gene HK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.99 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
5'UTR, founder tags were added to gene: HK1.
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HK1 were set to 19536174; 26822750
Phenotypes for gene: HK1 were set to HMSN; Neuropathy, hereditary motor and sensory, Russe type, 605285
Hereditary Neuropathy v1.98 Bryony Thompson Copied gene HINT1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.98 HINT1 Bryony Thompson gene: HINT1 was added
gene: HINT1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HINT1 were set to 22961002; 33663550; 33404983; 31848916
Phenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646; HMSN, dHMN/dSMA
Hereditary Neuropathy v1.97 Bryony Thompson Copied gene HARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.97 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
new gene name tags were added to gene: HARS.
Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HARS were set to 26072516
Phenotypes for gene: HARS were set to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; MONDO:0014711; HMSN
Hereditary Neuropathy v1.96 Bryony Thompson Copied gene GNB4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.96 GNB4 Bryony Thompson gene: GNB4 was added
gene: GNB4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB4 were set to 23434117; 28642160; 27908631
Phenotypes for gene: GNB4 were set to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN
Hereditary Neuropathy v1.95 Bryony Thompson Copied gene GJB1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.95 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJB1 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: GJB1 were set to 8266101; 17100997; 17353473
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; HMSN
Hereditary Neuropathy v1.94 Bryony Thompson Copied gene GDAP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.94 GDAP1 Bryony Thompson gene: GDAP1 was added
gene: GDAP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580
Phenotypes for gene: GDAP1 were set 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
Hereditary Neuropathy v1.93 Bryony Thompson Copied gene GBF1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.93 GBF1 Bryony Thompson gene: GBF1 was added
gene: GBF1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GBF1 were set to 32937143
Phenotypes for gene: GBF1 were set to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Hereditary Neuropathy v1.92 Bryony Thompson Copied gene GARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.92 GARS Bryony Thompson gene: GARS was added
gene: GARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
new gene name tags were added to gene: GARS.
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GARS were set to 17101916; 22462675; 31985473; 32181591; 12690580; 25168514; 26503042; 29648643; 16982418
Phenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, infantile, James type, MIM# 619042; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
Hereditary Neuropathy v1.91 Bryony Thompson Copied gene FIG4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.91 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 17572665; 21705420; 24878229
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640; HMSN
Hereditary Neuropathy v1.90 Bryony Thompson Copied gene FICD from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.90 FICD Bryony Thompson gene: FICD was added
gene: FICD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, MIM# 620911
Hereditary Neuropathy v1.89 Bryony Thompson Copied gene FGD4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.89 FGD4 Bryony Thompson gene: FGD4 was added
gene: FGD4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGD4 were set to 17564959; 31152969; 28847448; 28543957
Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN
Hereditary Neuropathy v1.88 Bryony Thompson Copied gene FBXO38 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.88 FBXO38 Bryony Thompson gene: FBXO38 was added
gene: FBXO38 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575; dHMN/dSMA
Hereditary Neuropathy v1.87 Bryony Thompson Copied gene FBLN5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.87 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBLN5 were set to 32757322; 31945625; 23328402; 28332470
Phenotypes for gene: FBLN5 were set to HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Hereditary Neuropathy v1.86 Bryony Thompson Copied gene ELP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.86 ELP1 Bryony Thompson gene: ELP1 was added
gene: ELP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 11179008; 11179021; 17644305
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Hereditary Neuropathy v1.85 Bryony Thompson Copied gene EGR2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.85 EGR2 Bryony Thompson gene: EGR2 was added
gene: EGR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: EGR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EGR2 were set to 11523566; 31852952
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Mode of pathogenicity for gene: EGR2 was set to Other
Hereditary Neuropathy v1.84 Bryony Thompson Copied gene DYNC1H1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.84 DYNC1H1 Bryony Thompson gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to 21820100; 32788638; 27549087
Phenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Hereditary Neuropathy v1.83 Bryony Thompson Copied gene DST from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.83 DST Bryony Thompson gene: DST was added
gene: DST was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Literature
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 22522446; 30371979; 28468842
Phenotypes for gene: DST were set to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839; HSAN/SFN
Hereditary Neuropathy v1.82 Bryony Thompson Copied gene DRP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.82 DRP2 Bryony Thompson gene: DRP2 was added
gene: DRP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 22764250; 26227883; 31217940
Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN
Hereditary Neuropathy v1.81 Bryony Thompson Copied gene DNMT1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.81 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Hereditary Neuropathy. Sources: Literature,ClinGen,Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424
Phenotypes for gene: DNMT1 were set to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584
Hereditary Neuropathy v1.80 Bryony Thompson Copied gene DNM2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.80 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 15731758; 17636067; 33459893; 31628461
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Hereditary Neuropathy v1.79 Bryony Thompson Copied gene DNAJB2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.79 DNAJB2 Bryony Thompson gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB2 were set to 22522442; 25274842; 33369814; 22522442
Phenotypes for gene: DNAJB2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Hereditary Neuropathy v1.78 Bryony Thompson Copied gene DHX9 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.78 DHX9 Bryony Thompson gene: DHX9 was added
gene: DHX9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related
Hereditary Neuropathy v1.77 Bryony Thompson Copied gene DHTKD1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.77 DHTKD1 Bryony Thompson gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Amber,NHS GMS
Mode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHTKD1 were set to 23141294, 29661920, 28902413
Phenotypes for gene: DHTKD1 were set to Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012
Hereditary Neuropathy v1.76 Bryony Thompson Copied gene DGAT2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.76 DGAT2 Bryony Thompson gene: DGAT2 was added
gene: DGAT2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert Review Amber,Expert Review,Royal Melbourne Hospital
Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGAT2 were set to 26786738
Phenotypes for gene: DGAT2 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
Hereditary Neuropathy v1.75 Bryony Thompson Copied gene DCTN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.75 DCTN1 Bryony Thompson gene: DCTN1 was added
gene: DCTN1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 12627231; 15326253; 33443672; 32023010; 27573046
Phenotypes for gene: DCTN1 were set to Neuronopathy, distal hereditary motor, type 7B, MONDO:0011879
Hereditary Neuropathy v1.74 Bryony Thompson Copied gene COX6A1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.74 COX6A1 Bryony Thompson gene: COX6A1 was added
gene: COX6A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A1 were set to 25152455; 26302975; 25152455
Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039; MONDO:0014467; HMSN
Hereditary Neuropathy v1.73 Bryony Thompson Copied gene COX20 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.73 COX20 Bryony Thompson gene: COX20 was added
gene: COX20 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX20 were set to PMID: 33751098
Phenotypes for gene: COX20 were set to sensory neuronopathy; sensory neuron disease; ganglionopathy
Hereditary Neuropathy v1.72 Bryony Thompson Copied gene CHCHD10 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.72 CHCHD10 Bryony Thompson gene: CHCHD10 was added
gene: CHCHD10 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: CHCHD10.
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to 22535186; 27066538
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA
Hereditary Neuropathy v1.71 Bryony Thompson Copied gene CADM3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.71 CADM3 Bryony Thompson gene: CADM3 was added
gene: CADM3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CADM3 were set to 33889941; 38074074
Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Penetrance for gene: CADM3 were set to unknown
Hereditary Neuropathy v1.70 Bryony Thompson Copied gene C1orf194 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.70 C1orf194 Bryony Thompson gene: C1orf194 was added
gene: C1orf194 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to 31199454; 32592472
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating
Hereditary Neuropathy v1.69 Bryony Thompson Copied gene BSCL2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.69 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to 14981520; 15732094
Phenotypes for gene: BSCL2 were set to Neuropathy, distal hereditary motor, type VC, MIM# 619112
Hereditary Neuropathy v1.68 Bryony Thompson Copied gene BICD2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.68 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; dHMN/dSMA
Hereditary Neuropathy v1.67 Bryony Thompson Copied gene BANF1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.67 BANF1 Bryony Thompson gene: BANF1 was added
gene: BANF1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: BANF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BANF1 were set to 36980188
Phenotypes for gene: BANF1 were set to Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
Hereditary Neuropathy v1.66 Bryony Thompson Copied gene ATP7A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.66 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,NHS GMS,Royal Melbourne Hospital
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900; 33137485; 31969342; 31558336
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA
Hereditary Neuropathy v1.65 Bryony Thompson Copied gene ATP1A1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.65 ATP1A1 Bryony Thompson gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 29499166
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036; MONDO:0054833
Hereditary Neuropathy v1.64 Bryony Thompson Copied gene ATL3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.64 ATL3 Bryony Thompson gene: ATL3 was added
gene: ATL3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL3 were set to 24459106; 30666337; 30339187; 24736309
Phenotypes for gene: ATL3 were set to Hereditary sensory neuropathy type IF; HSAN/SFN
Hereditary Neuropathy v1.63 Bryony Thompson Copied gene ATL1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.63 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL1 were set to 21194679; 24604904; 22340599
Phenotypes for gene: ATL1 were set to HSAN/SFN; Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Hereditary Neuropathy v1.62 Bryony Thompson Copied gene ARPC3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.62 ARPC3 Bryony Thompson gene: ARPC3 was added
gene: ARPC3 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC3 were set to 36928819; 26166300; 40011789
Phenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626
Hereditary Neuropathy v1.61 Bryony Thompson Copied gene ARHGEF10 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.61 ARHGEF10 Bryony Thompson gene: ARHGEF10 was added
gene: ARHGEF10 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF10 were set to 14508709; 21719701; 25025039; 25275565; 25091364
Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236; HMSN
Hereditary Neuropathy v1.60 Bryony Thompson Copied gene ARHGAP19 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.60 ARHGAP19 Bryony Thompson gene: ARHGAP19 was added
gene: ARHGAP19 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP19 were set to 41086021
Phenotypes for gene: ARHGAP19 were set to Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466
Hereditary Neuropathy v1.58 Bryony Thompson Panel name changed from Hereditary Neuropathy - complex to Hereditary Neuropathy
Hereditary Neuropathy v1.57 Bryony Thompson Copied gene AARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.57 AARS Bryony Thompson gene: AARS was added
gene: AARS was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AARS were set to 20045102; 22009580; 22206013; 30373780; 26032230
Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA
Lymphoedema v0.32 FLT4 Bryony Thompson Marked gene: FLT4 as ready
Lymphoedema v0.32 FLT4 Bryony Thompson Gene: flt4 has been classified as Green List (High Evidence).
Lymphoedema v0.32 FLT4 Bryony Thompson Classified gene: FLT4 as Green List (high evidence)
Lymphoedema v0.32 FLT4 Bryony Thompson Gene: flt4 has been classified as Green List (High Evidence).
Lymphoedema v0.31 Bryony Thompson Added reviews for gene FLT4 from panel Mendeliome
Lymphoedema v0.30 FLT4 Bryony Thompson gene: FLT4 was added
gene: FLT4 was added to Lymphoedema. Sources: Literature
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema v0.29 EPHB4 Bryony Thompson Classified gene: EPHB4 as Green List (high evidence)
Lymphoedema v0.29 EPHB4 Bryony Thompson Gene: ephb4 has been classified as Green List (High Evidence).
Lymphoedema v0.28 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Lymphoedema. Sources: Literature
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHB4 were set to 34040196; 34231312; 27400125; 29905864
Phenotypes for gene: EPHB4 were set to EPHB4-associated vascular malformation spectrum MONDO:0700080
Review for gene: EPHB4 was set to GREEN
Added comment: PMID: 34040196 - p.N410K (VUS) in a case with primary lymphoedema
PMID: 34231312 - one family with a primary lymphoedema (c.1998_1999insGC;
p.Ile667Alafs*25). The variant allele didn’t fully undergo NMD
PMID: 27400125 - 2 missense segregating in 2 unrelated families
PMID: 29905864 - splice variant producing an in-frame deletion segregating in a family
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.660 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.660 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.372 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.372 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Lymphoedema v0.27 Bryony Thompson Panel name changed from Lymphoedema_syndromic to Lymphoedema
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Mendeliome v1.4262 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Mendeliome v1.4262 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.659 Sangavi Sivagnanasundram Copied gene MAP2K4 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.659 MAP2K4 Sangavi Sivagnanasundram gene: MAP2K4 was added
gene: MAP2K4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092
Mode of pathogenicity for gene: MAP2K4 was set to Other
Genetic Epilepsy v1.370 Sangavi Sivagnanasundram Copied gene MAP2K4 from panel Mendeliome
Genetic Epilepsy v1.370 MAP2K4 Sangavi Sivagnanasundram gene: MAP2K4 was added
gene: MAP2K4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092
Mode of pathogenicity for gene: MAP2K4 was set to Other
Mendeliome v1.4261 MAP2K4 Sangavi Sivagnanasundram gene: MAP2K4 was added
gene: MAP2K4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092
Mode of pathogenicity for gene: MAP2K4 was set to Other
Review for gene: MAP2K4 was set to GREEN
Added comment: PMID 41480045 reports ten individuals from ten unrelated families with heterozygous de novo loss-of-function or missense MAP2K4 variants presenting with a syndromic neurodevelopmental disorder characterized by developmental delay/intellectual disability, epilepsy, and genitourinary and musculoskeletal congenital anomalies. All the reported variants were absent in gnomAD v4.1.

DD, ID - present in the majority of the reported individuals
CAKUT-like phenotypes reported in 5 individuals
Reports of hypotonia in three individuals
Epilepsy was reported in 4 individuals

A functional study using CRISPR-edited iPSC-derived neurons demonstrates reduced MP2K4 protein and impaired JNK signalling however, more evidence is required to confirm loss of function as the mechanism of disease. There are no pathogenic variants reported in ClinVar in this gene in the germline context.
Sources: Literature
Lymphoedema v0.26 HGF Bryony Thompson Classified gene: HGF as Green List (high evidence)
Lymphoedema v0.26 HGF Bryony Thompson Gene: hgf has been classified as Green List (High Evidence).
Lymphoedema v0.25 Bryony Thompson Added reviews for gene HGF from panel Lymphoedema_nonsyndromic
Lymphoedema v0.24 Bryony Thompson Added reviews for gene PTPN14 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.23 Bryony Thompson Added reviews for gene VEGFC from panel Lymphoedema_nonsyndromic
Lymphoedema v0.22 Bryony Thompson Copied gene TIE1 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.22 TIE1 Bryony Thompson gene: TIE1 was added
gene: TIE1 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIE1 were set to 32947856; 24764452; 38820174
Phenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401
Lymphoedema v0.21 Bryony Thompson Copied gene RORC from panel Lymphoedema_nonsyndromic
Lymphoedema v0.21 RORC Bryony Thompson gene: RORC was added
gene: RORC was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RORC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RORC were set to 32960152
Phenotypes for gene: RORC were set to Lymphoedema
Lymphoedema v0.20 Bryony Thompson Copied gene MDFIC from panel Lymphoedema_nonsyndromic
Lymphoedema v0.20 MDFIC Bryony Thompson gene: MDFIC was added
gene: MDFIC was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to Lymphatic malformation 12 - MIM#620014
Lymphoedema v0.19 Bryony Thompson Copied gene ERG from panel Lymphoedema_nonsyndromic
Lymphoedema v0.19 ERG Bryony Thompson gene: ERG was added
gene: ERG was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERG were set to 36928819
Phenotypes for gene: ERG were set to Lymphatic malformation 14, MIM# 620602
Penetrance for gene: ERG were set to unknown
Lymphoedema v0.18 Bryony Thompson Copied gene CELSR1 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.18 CELSR1 Bryony Thompson gene: CELSR1 was added
gene: CELSR1 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770
Phenotypes for gene: CELSR1 were set to Lymphatic malformation 9, MIM# 619319
Penetrance for gene: CELSR1 were set to Incomplete
Lymphoedema v0.17 Bryony Thompson Copied gene ARAP3 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.17 ARAP3 Bryony Thompson gene: ARAP3 was added
gene: ARAP3 was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARAP3 were set to 32908855
Phenotypes for gene: ARAP3 were set to Lymphoedema, MONDO:0019297, ARAP3-related
Lymphoedema v0.16 Bryony Thompson Copied gene ARAF from panel Lymphoedema_nonsyndromic
Lymphoedema v0.16 ARAF Bryony Thompson gene: ARAF was added
gene: ARAF was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARAF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARAF were set to 31263281
Phenotypes for gene: ARAF were set to Lymphatic malformation, MONDO:0019313, ARAF-related
Mode of pathogenicity for gene: ARAF was set to Other
Lymphoedema v0.15 Bryony Thompson Copied gene ANGPT2 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.15 ANGPT2 Bryony Thompson gene: ANGPT2 was added
gene: ANGPT2 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 32908006; 34876502
Phenotypes for gene: ANGPT2 were set to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops
Mendeliome v1.4260 VPS18 Bryony Thompson Marked gene: VPS18 as ready
Mendeliome v1.4260 VPS18 Bryony Thompson Gene: vps18 has been classified as Red List (Low Evidence).
Mendeliome v1.4260 VPS18 Bryony Thompson gene: VPS18 was added
gene: VPS18 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: VPS18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VPS18 were set to 41526335
Phenotypes for gene: VPS18 were set to Inborn error of immunity, MONDO:0003778
Review for gene: VPS18 was set to RED
Added comment: PMID 41526335 reports a single individual from one unrelated family with a heterozygous loss‑of‑function stop‑gain VPS18 variant (c.700C>T, p.Arg234Ter) presenting with congenital neutropenia, maturation arrest of neutrophils and recurrent infections. Human iPSC knock‑in, zebrafish and mouse models recapitulate the neutrophil deficiency, supporting a haploinsufficiency mechanism with dominant inheritance and incomplete penetrance.
Sources: Literature
Autism v0.244 CTNND2 Zornitza Stark Classified gene: CTNND2 as Green List (high evidence)
Autism v0.244 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Green List (High Evidence).
Autism v0.243 CTNND2 Zornitza Stark edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.

Note several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Mendeliome v1.4259 CTNND2 Zornitza Stark Classified gene: CTNND2 as Green List (high evidence)
Mendeliome v1.4259 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Green List (High Evidence).
Mendeliome v1.4258 CTNND2 Zornitza Stark edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.

Note several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Intellectual disability syndromic and non-syndromic v1.658 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to 25839933; 29127138; 25807484; 38604781; 25473103; 31814264
Intellectual disability syndromic and non-syndromic v1.657 CTNND2 Zornitza Stark Classified gene: CTNND2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.657 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.656 CTNND2 Zornitza Stark edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.

Note several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Mendeliome v1.4258 GDF6 Lucy Spencer Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898; CAKUT to Multiple synostoses syndrome 4 MIM#617898; Klippel-Feil syndrome 1, autosomal dominant MIM#118100; Leber congenital amaurosis 17 MIM615360; Microphthalmia, isolated 4 MIM#613094
Mendeliome v1.4257 GDF6 Lucy Spencer Publications for gene: GDF6 were set to 18425797; 19129173; 32737436
Mendeliome v1.4256 GDF6 Lucy Spencer reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26643732, 29130651, 30733656, 18425797, 34573339, 23307924, 19129173, 20494911, 21070663, 24033328, 25457163; Phenotypes: Multiple synostoses syndrome 4 MIM#617898, Klippel-Feil syndrome 1, autosomal dominant MIM#118100, Leber congenital amaurosis 17 MIM615360, Microphthalmia, isolated 4 MIM#613094; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.311 Sarah Milton Copied Region ISCA-46303-Loss from panel Common deletion and duplication syndromes
Clefting disorders v0.311 ISCA-46303-Loss Sarah Milton Region: ISCA-46303-Loss was added
Region: ISCA-46303-Loss was added to Clefting disorders. Sources: ClinGen
Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336
Common deletion and duplication syndromes v0.156 ISCA-46303-Loss Sarah Milton Region: ISCA-46303-Loss was added
Region: ISCA-46303-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336
Review for Region: ISCA-46303-Loss was set to GREEN
Added comment: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals.

It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Exact coordinates and critical regions are still being defined in the literature.
Sources: ClinGen
Hereditary Spastic Paraplegia v1.140 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Hereditary Spastic Paraplegia v1.140 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Mendeliome v1.4256 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Mendeliome v1.4256 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Mendeliome v1.4256 Zornitza Stark Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic
Mendeliome v1.4256 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Hereditary Spastic Paraplegia v1.140 Zornitza Stark Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic
Hereditary Spastic Paraplegia v1.140 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Genetic Epilepsy v1.369 Zornitza Stark Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Classified gene: PGBD5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.655 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Review for gene: PGBD5 was set to GREEN
Added comment: 10 individuals reported from 5 consanguineous families with bi-allelic variants in this gene and global developmental delay with impaired intellectual development, delayed motor skills, and motor abnormalities. Affected individuals were unable to speak or walk due to peripheral spasticity, ataxia, or hypotonia, and developed early-onset seizures. Additional features included dysmorphic facies, short stature, and brain imaging abnormalities, such as thin corpus callosum and cerebellar atrophy.

Pgbd5-null mice were runted and had significantly smaller brains compared to wildtype. Mutant mice showed increased locomotor activity, reduced anxiety-like behavior, impaired motor coordination, increased susceptibility to seizures, and decreased cortical volume on brain MRI. Analysis of neurons derived from Pgbd5-null mouse brains showed reduced DNA breakage and repair in postmitotic neuronal precursors during cortical development compared to controls.
Sources: Literature
Common deletion and duplication syndromes v0.155 ISCA-37494-Gain Zornitza Stark changed review comment from: Well established CNV, includes MECP2. Severe disorder in males, variable features in females.; to: Well established CNV. Severe disorder in males, variable features in females.
Mendeliome v1.4255 ALDH6A1 Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by ClinGen Aminoacidopathy GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:004096

ClinGen reports the same 5 probands mentioned below with biochemical abnormalities.
Their reasoning for classifying this GDA as limited is:
"There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection."

Given the biochemical abnormality, gene remain as GREEN.; to: Classified as LIMITED by ClinGen Aminoacidopathy GCEP on 09/01/2026 - https://search.clinicalgenome.org/CCID:004096

ClinGen reports the same 5 probands mentioned below with biochemical abnormalities.
Their reasoning for classifying this GDA as limited is:
"There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection."

Given the biochemical abnormality, gene remain as GREEN.
Mendeliome v1.4255 ALDH6A1 Sangavi Sivagnanasundram reviewed gene: ALDH6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004096; Phenotypes: methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brugada syndrome v0.46 FGF12 Sangavi Sivagnanasundram gene: FGF12 was added
gene: FGF12 was added to Brugada syndrome. Sources: ClinGen
Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF12 were set to Brugada syndrome MONDO:0015263
Review for gene: FGF12 was set to RED
Added comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:009116

"Since the initial gene-disease assertion in 2013, there has been no further compelling genetic evidence corroborating this relationship. Indeed, two separate studies have specifically considered the prevalence of FGF12 variants in Brugada syndrome cohorts and have not found any rare variants within the coding exons of the gene. Given the absence of compelling clinical genetic data over a 13 year period, this gene-disease classification was disputed."
Sources: ClinGen
Brugada syndrome v0.45 Sangavi Sivagnanasundram Copied gene TMEM168 from panel Incidentalome
Brugada syndrome v0.45 TMEM168 Sangavi Sivagnanasundram gene: TMEM168 was added
gene: TMEM168 was added to Brugada syndrome. Sources: ClinGen
Mode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114
Phenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263
Long QT Syndrome v0.63 Sangavi Sivagnanasundram Copied gene ALG10B from panel Incidentalome
Long QT Syndrome v0.63 ALG10B Sangavi Sivagnanasundram gene: ALG10B was added
gene: ALG10B was added to Long QT Syndrome. Sources: ClinGen
Mode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG10B were set to 37071726
Phenotypes for gene: ALG10B were set to long QT syndrome MONDO:0002442
Incidentalome v0.420 ALG10B Sangavi Sivagnanasundram gene: ALG10B was added
gene: ALG10B was added to Incidentalome. Sources: ClinGen
Mode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG10B were set to 37071726
Phenotypes for gene: ALG10B were set to long QT syndrome MONDO:0002442
Review for gene: ALG10B was set to RED
Added comment: Classified as LIMITED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:009115

6 individuals from one family reported with the same missense variant c.16G>A, p.Gly6Ser.
Sources: ClinGen
Mendeliome v1.4255 TMEM168 Sangavi Sivagnanasundram commented on gene: TMEM168
Mendeliome v1.4255 TMEM168 Sangavi Sivagnanasundram Classified gene: TMEM168 as No list
Mendeliome v1.4255 TMEM168 Sangavi Sivagnanasundram Gene: tmem168 has been removed from the panel.
Incidentalome v0.419 TMEM168 Sangavi Sivagnanasundram gene: TMEM168 was added
gene: TMEM168 was added to Incidentalome. Sources: ClinGen
Mode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114
Phenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263
Review for gene: TMEM168 was set to RED
Added comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026- https://search.clinicalgenome.org/CCID:009114
Sources: ClinGen
Mendeliome v1.4254 TMEM168 Sangavi Sivagnanasundram Deleted their review
Mendeliome v1.4254 TMEM168 Sangavi Sivagnanasundram gene: TMEM168 was added
gene: TMEM168 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114
Phenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263
Review for gene: TMEM168 was set to RED
Added comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026- https://search.clinicalgenome.org/CCID:009114
Sources: ClinGen
Mendeliome v1.4253 IL21 Sangavi Sivagnanasundram edited their review of gene: IL21: Changed rating: RED
Mendeliome v1.4253 IL21 Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by CliNGen Primary Immune Regulatory Disorders GCEP on 20/01/2026 - https://search.clinicalgenome.org/CCID:005133

Remain as Amber. ClinGen reports the same proband and siblings as below along with supportive functional assays; to: Classified as LIMITED by CliNGen Primary Immune Regulatory Disorders GCEP on 20/01/2026 - https://search.clinicalgenome.org/CCID:005133

Remain as RED. ClinGen reports the same proband and siblings as below along with supportive functional assays however only one reported proband with biallelic variant in this gene.
Mendeliome v1.4253 IL21 Sangavi Sivagnanasundram reviewed gene: IL21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IL21-related infantile inflammatory bowel disease MONDO:0014338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4253 ABCC8 Sangavi Sivagnanasundram reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperinsulinism MONDO:0002177, hyperinsulinemic hypoglycemia, familial, 1 MONDO:0009734; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.319 TWNK Sangavi Sivagnanasundram changed review comment from: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173

"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis."; to: Hearing loss has been reported in multiple affected individuals.

Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173

"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis."
Deafness_IsolatedAndComplex v1.319 Sangavi Sivagnanasundram Copied gene TWNK from panel Mendeliome
Deafness_IsolatedAndComplex v1.319 TWNK Sangavi Sivagnanasundram gene: TWNK was added
gene: TWNK was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 32234020; 18593709
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Mode of pathogenicity for gene: TWNK was set to Other
Mendeliome v1.4253 TWNK Sangavi Sivagnanasundram changed review comment from: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173; to: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173

"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis."
Deafness_IsolatedAndComplex v1.318 GRAP Sangavi Sivagnanasundram edited their review of gene: GRAP: Changed phenotypes: nonsyndromic genetic hearing loss MONDO:0019497
Mendeliome v1.4253 GRAP Sangavi Sivagnanasundram edited their review of gene: GRAP: Changed phenotypes: nonsyndromic genetic hearing loss MONDO:0019497
Mendeliome v1.4253 TWNK Sangavi Sivagnanasundram reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009173; Phenotypes: Perrault syndrome 5 MONDO:0014504; Mode of inheritance: None
Deafness_IsolatedAndComplex v1.318 Sangavi Sivagnanasundram Added reviews for gene GRAP from panel Mendeliome
Mendeliome v1.4253 GRAP Sangavi Sivagnanasundram reviewed gene: GRAP: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009156; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.4253 ABCD4 Sangavi Sivagnanasundram reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004015; Phenotypes: methylmalonic acidemia with homocystinuria, type cblJ MONDO:0013925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.56 Sangavi Sivagnanasundram Added reviews for gene LDB3 from panel Mendeliome
Mendeliome v1.4253 LDB3 Sangavi Sivagnanasundram reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045, arrhythmogenic right ventricular cardiomyopathy MONDO:0016587; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4253 POLR1C Sangavi Sivagnanasundram reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009178; Phenotypes: POLR1C-related disorder MONDO:0700278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4253 CTC1 Sangavi Sivagnanasundram reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009177; Phenotypes: cerebroretinal microangiopathy with calcifications and cysts 1 MONDO:0024564; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.137 Sangavi Sivagnanasundram Added reviews for gene RAP1B from panel Mendeliome
Mendeliome v1.4253 RAP1B Sangavi Sivagnanasundram reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005970; Phenotypes: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies MONDO:0958000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.408 RBBP8 Chirag Patel Marked gene: RBBP8 as ready
Skeletal dysplasia v0.408 RBBP8 Chirag Patel Gene: rbbp8 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.408 Chirag Patel Copied gene RBBP8 from panel Mendeliome
Skeletal dysplasia v0.408 RBBP8 Chirag Patel gene: RBBP8 was added
gene: RBBP8 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 21998596; 34270086
Phenotypes for gene: RBBP8 were set to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Skeletal dysplasia v0.407 DNA2 Chirag Patel Marked gene: DNA2 as ready
Skeletal dysplasia v0.407 DNA2 Chirag Patel Gene: dna2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.407 Chirag Patel Copied gene DNA2 from panel Mendeliome
Skeletal dysplasia v0.407 DNA2 Chirag Patel gene: DNA2 was added
gene: DNA2 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNA2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050; 31045292; 23352259; 25635128; 28554558; 37133451
Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, type 4, MIM# 620819; Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Skeletal dysplasia v0.406 CRIPT Chirag Patel Marked gene: CRIPT as ready
Skeletal dysplasia v0.406 CRIPT Chirag Patel Gene: cript has been classified as Green List (High Evidence).
Skeletal dysplasia v0.406 CEP152 Chirag Patel Deleted their comment
Skeletal dysplasia v0.406 CEP152 Chirag Patel Deleted their comment
Skeletal dysplasia v0.406 CEP152 Chirag Patel Deleted their comment
Skeletal dysplasia v0.406 CEP152 Chirag Patel Marked gene: CEP152 as ready
Skeletal dysplasia v0.406 CEP152 Chirag Patel Gene: cep152 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.406 CEP152 Chirag Patel Classified gene: CEP152 as Red List (low evidence)
Skeletal dysplasia v0.406 CEP152 Chirag Patel Gene: cep152 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.405 ATR Chirag Patel Marked gene: ATR as ready
Skeletal dysplasia v0.405 ATR Chirag Patel Gene: atr has been classified as Green List (High Evidence).
Skeletal dysplasia v0.405 Chirag Patel Copied gene CRIPT from panel Microcephalic Primordial Dwarfism and Slender bone dysplasias
Skeletal dysplasia v0.405 CRIPT Chirag Patel gene: CRIPT was added
gene: CRIPT was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to 24389050; 27250922; 36630262; 37013901
Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002
Skeletal dysplasia v0.404 CEP152 Chirag Patel commented on gene: CEP152: Not skeletal dysplasia
Skeletal dysplasia v0.404 CEP152 Chirag Patel commented on gene: CEP152: Not skeletal dysplasia
Skeletal dysplasia v0.404 CEP152 Chirag Patel edited their review of gene: CEP152: Added comment: Not skeletal dysplasia; Changed rating: RED
Skeletal dysplasia v0.404 CEP152 Chirag Patel commented on gene: CEP152
Skeletal dysplasia v0.404 Chirag Patel Copied gene CEP152 from panel Microcephalic Primordial Dwarfism and Slender bone dysplasias
Skeletal dysplasia v0.404 CEP152 Chirag Patel gene: CEP152 was added
gene: CEP152 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP152 were set to 21131973
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, MIM# 613823; MONDO:0013443
Skeletal dysplasia v0.404 Chirag Patel Copied gene ATR from panel Mendeliome
Skeletal dysplasia v0.404 ATR Chirag Patel gene: ATR was added
gene: ATR was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATR were set to 12640452; 19620979; 30199583; 23111928
Phenotypes for gene: ATR were set to Seckel syndrome 1, MIM# 210600
Aortopathy_Connective Tissue Disorders v1.105 FLNB Chirag Patel Marked gene: FLNB as ready
Aortopathy_Connective Tissue Disorders v1.105 FLNB Chirag Patel Gene: flnb has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.105 Chirag Patel Copied gene FLNB from panel Multiple joint dislocations and laxity
Aortopathy_Connective Tissue Disorders v1.105 FLNB Chirag Patel gene: FLNB was added
gene: FLNB was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Atelosteogenesis, type I 108720; Atelosteogenesis, type III 108721; Larsen syndrome 150250; Spondylocarpotarsal synostosis syndrome 272460; Boomerang dysplasia 112310
Aortopathy_Connective Tissue Disorders v1.104 GZF1 Chirag Patel Marked gene: GZF1 as ready
Aortopathy_Connective Tissue Disorders v1.104 GZF1 Chirag Patel Gene: gzf1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.104 Chirag Patel Copied gene GZF1 from panel Multiple joint dislocations and laxity
Aortopathy_Connective Tissue Disorders v1.104 GZF1 Chirag Patel gene: GZF1 was added
gene: GZF1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GZF1 were set to 28475863; 33009817
Phenotypes for gene: GZF1 were set to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome
Aortopathy_Connective Tissue Disorders v1.103 B3GAT3 Chirag Patel Marked gene: B3GAT3 as ready
Aortopathy_Connective Tissue Disorders v1.103 B3GAT3 Chirag Patel Gene: b3gat3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.103 Chirag Patel Copied gene B3GAT3 from panel Multiple joint dislocations and laxity
Aortopathy_Connective Tissue Disorders v1.103 B3GAT3 Chirag Patel gene: B3GAT3 was added
gene: B3GAT3 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,Radboud University Medical Center, Nijmegen,NHS GMS,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl)
Skeletal Ciliopathies v1.20 Chirag Patel Panel name changed from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy to Skeletal Ciliopathies
Skeletal Ciliopathies v1.19 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Monogenic Diabetes v0.202 PCYT1A Chirag Patel Marked gene: PCYT1A as ready
Monogenic Diabetes v0.202 PCYT1A Chirag Patel Gene: pcyt1a has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.202 Chirag Patel Copied gene PCYT1A from panel Lipodystrophy_Lipoatrophy
Monogenic Diabetes v0.202 PCYT1A Chirag Patel gene: PCYT1A was added
gene: PCYT1A was added to Monogenic Diabetes. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT1A were set to 24889630
Phenotypes for gene: PCYT1A were set to Lipodystrophy, congenital generalized, type 5, MIM# 620680
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel Marked gene: PLA2G16 as ready
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel Gene: pla2g16 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.201 Chirag Patel Copied gene PLA2G16 from panel Lipodystrophy_Lipoatrophy
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel gene: PLA2G16 was added
gene: PLA2G16 was added to Monogenic Diabetes. Sources: Expert Review Green,Literature
new gene name tags were added to gene: PLA2G16.
Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G16 were set to PMID: 37919452
Phenotypes for gene: PLA2G16 were set to Lipodystrophy, familial partial, type 9, MIM# 620683
Mendeliome v1.4253 AKT2 Chirag Patel commented on gene: AKT2
Lipodystrophy_Lipoatrophy v1.40 AKT2 Chirag Patel Classified gene: AKT2 as Red List (low evidence)
Lipodystrophy_Lipoatrophy v1.40 AKT2 Chirag Patel Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Classified gene: AKT2 as Red List (low evidence)
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Classified gene: AKT2 as Red List (low evidence)
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.38 AKT2 Chirag Patel edited their review of gene: AKT2: Added comment: ClinGen LIMITED (Jan 2026)
https://search.clinicalgenome.org/CCID:009131; Changed rating: RED; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.200 MT-TL1 Chirag Patel Marked gene: MT-TL1 as ready
Monogenic Diabetes v0.200 MT-TL1 Chirag Patel Gene: mt-tl1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.200 MT-TL1 Chirag Patel Publications for gene: MT-TL1 were set to 9323566; 12221518; 20471262; 23220830; 23273904; 24338029; 23582502; 11271374; 23258140
Monogenic Diabetes v0.199 MT-TL1 Chirag Patel reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14749274, 16019720; Phenotypes: MELAS syndrome, MONDO:0010789, Maternally-inherited diabetes and deafness, MONDO:0010785; Mode of inheritance: MITOCHONDRIAL
Monogenic Diabetes v0.199 Chirag Patel Copied gene MT-TL1 from panel Mendeliome
Monogenic Diabetes v0.199 MT-TL1 Chirag Patel gene: MT-TL1 was added
gene: MT-TL1 was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TL1.
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 9323566; 12221518; 20471262; 23220830; 23273904; 24338029; 23582502; 11271374; 23258140
Phenotypes for gene: MT-TL1 were set to Mitochondrial disease (MONDO:0044970), MT-TL1-related
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Marked gene: NFKB1 as ready
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Gene: nfkb1 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Classified gene: NFKB1 as Red List (low evidence)
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Gene: nfkb1 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.197 NFKB1 Chirag Patel reviewed gene: NFKB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 12, MONDO:0014697; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.197 NFKB1 Chirag Patel Deleted their review
Monogenic Diabetes v0.197 NFKB1 Chirag Patel commented on gene: NFKB1
Monogenic Diabetes v0.197 Chirag Patel Copied gene NFKB1 from panel Mendeliome
Monogenic Diabetes v0.197 NFKB1 Chirag Patel gene: NFKB1 was added
gene: NFKB1 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB1 were set to 26279205; 32278790; 27022143; 7834752
Phenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia
Lipodystrophy_Lipoatrophy v1.38 MFN2 Chirag Patel Marked gene: MFN2 as ready
Lipodystrophy_Lipoatrophy v1.38 MFN2 Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.38 Chirag Patel Copied gene MFN2 from panel Monogenic Diabetes
Lipodystrophy_Lipoatrophy v1.38 MFN2 Chirag Patel gene: MFN2 was added
gene: MFN2 was added to Lipodystrophy_Lipoatrophy. Sources: Expert Review Green,ClinGen
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 8458227, 26114802, 26085578, 37162328, 28414270, 30158064
Phenotypes for gene: MFN2 were set to Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153
Monogenic Diabetes v0.196 MFN2 Chirag Patel Marked gene: MFN2 as ready
Monogenic Diabetes v0.196 MFN2 Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.196 MFN2 Chirag Patel Classified gene: MFN2 as Green List (high evidence)
Monogenic Diabetes v0.196 MFN2 Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.195 MFN2 Chirag Patel gene: MFN2 was added
gene: MFN2 was added to Monogenic Diabetes. Sources: ClinGen
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 8458227, 26114802, 26085578, 37162328, 28414270, 30158064
Phenotypes for gene: MFN2 were set to Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153
Review for gene: MFN2 was set to GREEN
Added comment: ClinGen DEFINITIVE (Sep 2025)
https://search.clinicalgenome.org/CCID:008970

All reported affected individuals carry p.Arg707Trp on one allele (they are either homozygous or compound het) - gnomAD v4.1 FAF 0.05440%
Sources: ClinGen
Monogenic Diabetes v0.194 ITCH Chirag Patel Marked gene: ITCH as ready
Monogenic Diabetes v0.194 ITCH Chirag Patel Gene: itch has been classified as Green List (High Evidence).
Monogenic Diabetes v0.194 ITCH Chirag Patel Publications for gene: ITCH were set to 20170897; 31091003; 32356405
Monogenic Diabetes v0.193 ITCH Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170897,30705142,33894394; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.193 ITCH Chirag Patel Deleted their review
Monogenic Diabetes v0.193 ITCH Chirag Patel changed review comment from: ClinGen DEFINITIVE (Oct 2025)
https://search.clinicalgenome.org/CCID:009048; to: ClinGen DEFINITIVE (Oct 2025)
https://search.clinicalgenome.org/CCID:009048

3 individuals from 3 unrelated families with type 1 diabetes (elevated islet-cell antibodies, GAD antibodies, and insulin autoantibodies) and multisystem autoimmune disease, dysmorphic features, and developmental abnormalities.
Monogenic Diabetes v0.193 Chirag Patel Copied gene ITCH from panel Mendeliome
Monogenic Diabetes v0.193 ITCH Chirag Patel gene: ITCH was added
gene: ITCH was added to Monogenic Diabetes. Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
founder tags were added to gene: ITCH.
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITCH were set to 20170897; 31091003; 32356405
Phenotypes for gene: ITCH were set to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Mendeliome v1.4253 ITCH Chirag Patel Phenotypes for gene: ITCH were changed from Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Mendeliome v1.4252 ITCH Chirag Patel Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Mendeliome v1.4251 Chirag Patel Added reviews for gene ITCH from panel Disorders of immune dysregulation
Disorders of immune dysregulation v1.36 ITCH Chirag Patel Phenotypes for gene: ITCH were changed from to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Disorders of immune dysregulation v1.35 ITCH Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Deleted their review
Disorders of immune dysregulation v1.35 ITCH Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Deleted their review
Disorders of immune dysregulation v1.35 ITCH Chirag Patel commented on gene: ITCH
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Mode of inheritance for gene: ITCH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.34 ITCH Chirag Patel Marked gene: ITCH as ready
Disorders of immune dysregulation v1.34 ITCH Chirag Patel Gene: itch has been classified as Green List (High Evidence).
Monogenic Diabetes v0.192 CTLA4 Chirag Patel Marked gene: CTLA4 as ready
Monogenic Diabetes v0.192 CTLA4 Chirag Patel Gene: ctla4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.192 CTLA4 Chirag Patel reviewed gene: CTLA4: Rating: ; Mode of pathogenicity: None; Publications: 33788257; Phenotypes: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, MONDO:0014493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.192 Chirag Patel Copied gene CTLA4 from panel Mendeliome
Monogenic Diabetes v0.192 CTLA4 Chirag Patel gene: CTLA4 was added
gene: CTLA4 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CTLA4 were set to Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD
Mendeliome v1.4250 NEUROD1 Chirag Patel changed review comment from: ClinGen DEFINITIVE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.; to: ClinGen MODERATE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.
Monogenic Diabetes v0.191 NEUROD1 Chirag Patel changed review comment from: ClinGen DEFINITIVE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.; to: ClinGen MODERATE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.
Monogenic Diabetes v0.191 NEUROD1 Chirag Patel Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242; 20573748; 12200761; 30259503
Mendeliome v1.4250 NEUROD1 Chirag Patel Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, MIM#606394; Retinitis pigmentosa, retinopathy, permanent neonatal diabetes to Monogenic diabetes, MONDO:0015967; Retinitis pigmentosa
Mendeliome v1.4249 NEUROD1 Chirag Patel Publications for gene: NEUROD1 were set to 25477324; 25684977; 22784109; 29521454
Mendeliome v1.4248 Chirag Patel Added reviews for gene NEUROD1 from panel Monogenic Diabetes
Monogenic Diabetes v0.190 NEUROD1 Chirag Patel Phenotypes for gene: NEUROD1 were changed from maturity-onset diabetes of the young type 6 MONDO:0011668 to Monogenic diabetes, MONDO:0015967
Monogenic Diabetes v0.189 NEUROD1 Chirag Patel Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242
Monogenic Diabetes v0.188 NEUROD1 Chirag Patel reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29521454, 20573748, 12200761, 30259503; Phenotypes: Monogenic diabetes, MONDO:0015967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4247 CAV1 Chirag Patel Publications for gene: CAV1 were set to 18237401; 25898808; 11739396; 18211975; 27717241; 26176221; 33836561; 33776068; 32502478; 22474227; 28768485
Lipodystrophy_Lipoatrophy v1.37 CAV1 Chirag Patel Publications for gene: CAV1 were set to 18237401; 25898808; 11739396; 18211975; 27717241; 26176221
Mendeliome v1.4246 Chirag Patel Added reviews for gene CAV1 from panel Monogenic Diabetes
Lipodystrophy_Lipoatrophy v1.36 Chirag Patel Added reviews for gene CAV1 from panel Monogenic Diabetes
Monogenic Diabetes v0.188 CAV1 Chirag Patel Phenotypes for gene: CAV1 were changed from Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome to Congenital generalized lipodystrophy type 3, MONDO:0012923
Monogenic Diabetes v0.187 CAV1 Chirag Patel Publications for gene: CAV1 were set to 18211975
Monogenic Diabetes v0.186 CAV1 Chirag Patel Classified gene: CAV1 as Green List (high evidence)
Monogenic Diabetes v0.186 CAV1 Chirag Patel Gene: cav1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.185 CAV1 Chirag Patel reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18541701,34643546,11739396,12660144; Phenotypes: Congenital generalized lipodystrophy type 3, MONDO:0012923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.185 CNOT1 Chirag Patel Marked gene: CNOT1 as ready
Monogenic Diabetes v0.185 CNOT1 Chirag Patel Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.185 Chirag Patel Copied gene CNOT1 from panel Holoprosencephaly and septo-optic dysplasia
Monogenic Diabetes v0.185 CNOT1 Chirag Patel gene: CNOT1 was added
gene: CNOT1 was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787
Monogenic Diabetes v0.184 ADRA2A Chirag Patel Marked gene: ADRA2A as ready
Monogenic Diabetes v0.184 ADRA2A Chirag Patel Gene: adra2a has been classified as Red List (Low Evidence).
Mendeliome v1.4245 ADRA2A Chirag Patel Marked gene: ADRA2A as ready
Mendeliome v1.4245 ADRA2A Chirag Patel Gene: adra2a has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.184 NSMCE2 Chirag Patel Marked gene: NSMCE2 as ready
Monogenic Diabetes v0.184 NSMCE2 Chirag Patel Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Growth failure v1.97 NSMCE2 Chirag Patel Marked gene: NSMCE2 as ready
Growth failure v1.97 NSMCE2 Chirag Patel Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Growth failure v1.97 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Monogenic Diabetes v0.184 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Microcephaly v1.410 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Mendeliome v1.4245 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Monogenic Diabetes v0.183 Chirag Patel Copied gene ADRA2A from panel Lipodystrophy_Lipoatrophy
Monogenic Diabetes v0.183 ADRA2A Chirag Patel gene: ADRA2A was added
gene: ADRA2A was added to Monogenic Diabetes. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679
Mendeliome v1.4244 Chirag Patel Copied gene ADRA2A from panel Lipodystrophy_Lipoatrophy
Mendeliome v1.4244 ADRA2A Chirag Patel gene: ADRA2A was added
gene: ADRA2A was added to Mendeliome. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679
Lipodystrophy_Lipoatrophy v1.35 ADRA2A Chirag Patel Marked gene: ADRA2A as ready
Lipodystrophy_Lipoatrophy v1.35 ADRA2A Chirag Patel Gene: adra2a has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.35 ADRA2A Chirag Patel gene: ADRA2A was added
gene: ADRA2A was added to Lipodystrophy_Lipoatrophy. Sources: Genomics England PanelApp
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679
Review for gene: ADRA2A was set to RED
Added comment: 3 affected members of an African American family with onset of atypical partial lipodystrophy around 13 to 15 years of age. As adults, all developed diabetes, hypertension, and hyperlipidemia with increased triglycerides. WES identified a heterozygous missense variant in ADRA2A (L68F), which was absent in ExAC or dbSNP databases and segregated with the disorder in the family. Two clinically unaffected children (3 and 8 years of age) who were younger than the age of symptom onset also carried the variant. Expression of the variant in HEK293 cells showed that the mutant ADRA2A protein was expressed and localized normally to the plasma membrane, but caused slightly increased cAMP production compared to wildtype. Differentiated adipose cells (3T3-L1) transfected with the mutation had a higher rate of basal lipolysis compared to controls, as evidenced by glycerol release. Synthesis of cAMP and lipolysis in cells carrying the variant were resistant to suppression by clonidine and not sensitive to yohimbine, suggesting that the variant results in a loss of function. The findings suggested that excessive lipolysis from certain adipose tissue deposits is the main mechanism causing the disorder.
Sources: Genomics England PanelApp
Monogenic Diabetes v0.182 Chirag Patel Copied gene NSMCE2 from panel Mendeliome
Monogenic Diabetes v0.182 NSMCE2 Chirag Patel gene: NSMCE2 was added
gene: NSMCE2 was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10
Penetrance for gene: NSMCE2 were set to Complete
Microcephaly v1.409 Chirag Patel Added reviews for gene NSMCE2 from panel Mendeliome
Growth failure v1.96 Chirag Patel Copied gene NSMCE2 from panel Mendeliome
Growth failure v1.96 NSMCE2 Chirag Patel gene: NSMCE2 was added
gene: NSMCE2 was added to Growth failure. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10
Penetrance for gene: NSMCE2 were set to Complete
Mendeliome v1.4243 NSMCE2 Chirag Patel reviewed gene: NSMCE2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 10, MONDO:0014991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.181 PPP1R3A Chirag Patel Marked gene: PPP1R3A as ready
Monogenic Diabetes v0.181 PPP1R3A Chirag Patel Gene: ppp1r3a has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.181 Chirag Patel Copied gene PPP1R3A from panel Mendeliome
Monogenic Diabetes v0.181 PPP1R3A Chirag Patel gene: PPP1R3A was added
gene: PPP1R3A was added to Monogenic Diabetes. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP1R3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R3A were set to 29948331; 12118251; 18232732
Phenotypes for gene: PPP1R3A were set to Insulin resistance, severe, digenic 125853
Monogenic Diabetes v0.180 LIPE Chirag Patel Marked gene: LIPE as ready
Monogenic Diabetes v0.180 LIPE Chirag Patel Gene: lipe has been classified as Green List (High Evidence).
Monogenic Diabetes v0.180 LIPE Chirag Patel Phenotypes for gene: LIPE were changed from LIPE-related familial partial lipodystrophy, MONDO:0014431 to LIPE-related familial partial lipodystrophy, MONDO:0014431
Monogenic Diabetes v0.180 LIPE Chirag Patel Phenotypes for gene: LIPE were changed from Lipodystrophy, familial partial, type 6, 615980 to LIPE-related familial partial lipodystrophy, MONDO:0014431
Lipodystrophy_Lipoatrophy v1.34 LIPE Chirag Patel Phenotypes for gene: LIPE were changed from Lipodystrophy, familial partial, type 6, 615980 to LIPE-related familial partial lipodystrophy, MONDO:0014431
Monogenic Diabetes v0.179 Chirag Patel Copied gene LIPE from panel Mendeliome
Monogenic Diabetes v0.179 LIPE Chirag Patel gene: LIPE was added
gene: LIPE was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy_Lipoatrophy v1.33 Chirag Patel Added reviews for gene LIPE from panel Mendeliome
Mendeliome v1.4243 LIPE Chirag Patel reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIPE-related familial partial lipodystrophy, MONDO:0014431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.178 CAVIN1 Chirag Patel Marked gene: CAVIN1 as ready
Monogenic Diabetes v0.178 CAVIN1 Chirag Patel Gene: cavin1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.178 Chirag Patel Copied gene CAVIN1 from panel Mendeliome
Monogenic Diabetes v0.178 CAVIN1 Chirag Patel gene: CAVIN1 was added
gene: CAVIN1 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CAVIN1.
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAVIN1 were set to 19726876; 20300641; 20684003; 18840361
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225
Monogenic Diabetes v0.177 WRN Chirag Patel Marked gene: WRN as ready
Monogenic Diabetes v0.177 WRN Chirag Patel Gene: wrn has been classified as Green List (High Evidence).
Monogenic Diabetes v0.177 WRN Chirag Patel Publications for gene: WRN were set to 28476236; 8602509; 8968742; 9012406
Monogenic Diabetes v0.176 WRN Chirag Patel reviewed gene: WRN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.176 Chirag Patel Copied gene WRN from panel Mendeliome
Monogenic Diabetes v0.176 WRN Chirag Patel gene: WRN was added
gene: WRN was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 28476236; 8602509; 8968742; 9012406
Phenotypes for gene: WRN were set to Werner syndrome, MIM# 277700; MONDO:0010196
Intellectual disability syndromic and non-syndromic v1.654 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.175 RNU6ATAC Chirag Patel Marked gene: RNU6ATAC as ready
Monogenic Diabetes v0.175 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.653 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.653 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.653 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.652 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Genetic Epilepsy v1.366 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Microcephaly v1.408 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Microcephaly v1.407 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Monogenic Diabetes v0.175 BLM Chirag Patel Marked gene: BLM as ready
Monogenic Diabetes v0.175 BLM Chirag Patel Gene: blm has been classified as Green List (High Evidence).
Monogenic Diabetes v0.175 BLM Chirag Patel Publications for gene: BLM were set to 17407155; 9285778; 7585968; 8079989; 12242442; 11101838
Monogenic Diabetes v0.174 BLM Chirag Patel reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301572; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.174 Chirag Patel Copied gene BLM from panel Mendeliome
Monogenic Diabetes v0.174 BLM Chirag Patel gene: BLM was added
gene: BLM was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLM were set to 17407155; 9285778; 7585968; 8079989; 12242442; 11101838
Phenotypes for gene: BLM were set to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies
Monogenic Diabetes v0.173 Chirag Patel Copied gene RNU6ATAC from panel Mendeliome
Monogenic Diabetes v0.173 RNU6ATAC Chirag Patel gene: RNU6ATAC was added
gene: RNU6ATAC was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature
non-coding gene tags were added to gene: RNU6ATAC.
Mode of inheritance for gene: RNU6ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU6ATAC were set to 40975062
Phenotypes for gene: RNU6ATAC were set to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Microcephaly v1.407 Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.652 Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome
Genetic Epilepsy v1.366 Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome
Monogenic Diabetes v0.172 TARS2 Chirag Patel Marked gene: TARS2 as ready
Monogenic Diabetes v0.172 TARS2 Chirag Patel Gene: tars2 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.172 TARS2 Chirag Patel Classified gene: TARS2 as Amber List (moderate evidence)
Monogenic Diabetes v0.172 TARS2 Chirag Patel Gene: tars2 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.171 TARS2 Chirag Patel gene: TARS2 was added
gene: TARS2 was added to Monogenic Diabetes. Sources: Expert List
Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS2 were set to 39509107
Phenotypes for gene: TARS2 were set to Combined oxidative phosphorylation defect type 21, MONDO:0014398
Review for gene: TARS2 was set to AMBER
Added comment: 4 individuals diagnosed with diabetes (3 neonatal and 1 at 52 weeks) shared a rare homozygous missense variant c.980G>A, p.(Arg327Gln), in TARS2. One proband had epilepsy, one had development delay and two had both. On haplotype analysis, individuals 1, 3 and 4 shared a 1.8 Mb region (including TARS2), indicating inheritance from a common ancestor. Individual 2 did not share a haplotype. The reported variant is rare (9 alleles in gnomAD v4.1.0, no homozygotes); Revel score = 0.32, Uncertain. Authors hypothesise that homozygous missense variants specifically in the TARS2 301‐381aa region may impair binding of TARS2 to Rag GTPases and disrupt the mTORC1 signalling pathway, leading to β‐cell dysfunction.
Sources: Expert List
Microcephaly v1.406 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Microcephaly v1.406 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4243 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Mendeliome v1.4243 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Mendeliome v1.4242 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Mendeliome v1.4242 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4241 RNU6ATAC Chirag Patel reviewed gene: RNU6ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal diabetes, humoral immunue defect, microcephaly, developmental delay.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.170 RNU4ATAC Chirag Patel reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.170 Chirag Patel Copied gene RNU4ATAC from panel Mendeliome
Monogenic Diabetes v0.170 RNU4ATAC Chirag Patel gene: RNU4ATAC was added
gene: RNU4ATAC was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
non-coding gene tags were added to gene: RNU4ATAC.
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 23794361; 26522830; 30455926; 29265708; 12605445
Phenotypes for gene: RNU4ATAC were set to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Monogenic Diabetes v0.169 DUT Chirag Patel Marked gene: DUT as ready
Monogenic Diabetes v0.169 DUT Chirag Patel Gene: dut has been classified as Green List (High Evidence).
Monogenic Diabetes v0.169 Chirag Patel Copied gene DUT from panel Bone Marrow Failure
Monogenic Diabetes v0.169 DUT Chirag Patel gene: DUT was added
gene: DUT was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Mendeliome v1.4241 STAT1 Chirag Patel Phenotypes for gene: STAT1 were changed from Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162 to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599
Mendeliome v1.4240 Chirag Patel Added reviews for gene STAT1 from panel Monogenic Diabetes
Monogenic Diabetes v0.168 STAT1 Chirag Patel Publications for gene: STAT1 were set to 23534974; 33027576
Monogenic Diabetes v0.167 STAT1 Chirag Patel Classified gene: STAT1 as Green List (high evidence)
Monogenic Diabetes v0.167 STAT1 Chirag Patel Gene: stat1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.166 STAT1 Chirag Patel reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23534974, 27114460; Phenotypes: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v1.32 PLIN1 Chirag Patel Tag disputed was removed from gene: PLIN1.
Mendeliome v1.4239 PLIN1 Chirag Patel Tag disputed was removed from gene: PLIN1.
Mendeliome v1.4239 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, MIM# 613877 to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Mendeliome v1.4238 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 21345103; 31504636; 30020498; 25114292
Mendeliome v1.4237 PLIN1 Chirag Patel Classified gene: PLIN1 as Green List (high evidence)
Mendeliome v1.4237 PLIN1 Chirag Patel Gene: plin1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.32 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from PLIN1-related familial partial lipodystrophy, MONDO:0013478 to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Lipodystrophy_Lipoatrophy v1.32 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 21345103; 25114292; 29747582; 31504636; 11371650; 30020498
Lipodystrophy_Lipoatrophy v1.31 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, MIM# 613877 to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Lipodystrophy_Lipoatrophy v1.31 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 21345103; 31504636; 30020498; 25114292
Lipodystrophy_Lipoatrophy v1.30 PLIN1 Chirag Patel Classified gene: PLIN1 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v1.30 PLIN1 Chirag Patel Gene: plin1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.166 PLIN1 Chirag Patel Tag disputed was removed from gene: PLIN1.
Mendeliome v1.4236 Chirag Patel Added reviews for gene PLIN1 from panel Monogenic Diabetes
Lipodystrophy_Lipoatrophy v1.29 Chirag Patel Added reviews for gene PLIN1 from panel Monogenic Diabetes
Monogenic Diabetes v0.166 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Monogenic Diabetes v0.165 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498
Monogenic Diabetes v0.164 PLIN1 Chirag Patel Classified gene: PLIN1 as Green List (high evidence)
Monogenic Diabetes v0.164 PLIN1 Chirag Patel Gene: plin1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.163 PLIN1 Chirag Patel reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21345103, 25114292, 29747582, 31504636, 11371650; Phenotypes: PLIN1-related familial partial lipodystrophy, MONDO:0013478; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.163 AKT2 Chirag Patel reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.163 AKT2 Chirag Patel Deleted their review
Monogenic Diabetes v0.163 AKT2 Chirag Patel Deleted their comment
Monogenic Diabetes v0.163 APPL1 Chirag Patel reviewed gene: APPL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.163 AKT2 Chirag Patel changed review comment from: ClinGen LIMITED (Jan 2026)

https://search.clinicalgenome.org/CCID:009131; to: ClinGen LIMITED (Jan 2026)
https://search.clinicalgenome.org/CCID:009131
Monogenic Diabetes v0.163 AKT2 Chirag Patel commented on gene: AKT2
Mendeliome v1.4235 ADAM17 Zornitza Stark changed review comment from: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; to: Association with hypotrichosis: missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.
Mendeliome v1.4235 ADAM17 Zornitza Stark changed review comment from: Comment when marking as ready: Association with IBD -- two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model. GREEN for this MOI/association.
Mendeliome v1.4235 ADAM17 Zornitza Stark changed review comment from: Comment when marking as ready: Two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model.
Mendeliome v1.4235 ADAM17 Zornitza Stark edited their review of gene: ADAM17: Added comment: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; Changed rating: RED; Changed publications: 38771644; Changed phenotypes: Hypotrichosis 16, MIM# 621490; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.83 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Hair disorders v0.83 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Hair disorders v0.83 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: ADAM17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAM17 were set to 38771644
Phenotypes for gene: ADAM17 were set to Hypotrichosis 16, MIM# 621490
Review for gene: ADAM17 was set to RED
Added comment: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model.
Sources: Literature
Fetal anomalies v1.526 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to neurodevNeurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Fetal anomalies v1.525 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.651 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Intellectual disability syndromic and non-syndromic v1.650 KDM2B Zornitza Stark edited their review of gene: KDM2B: Changed phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Mendeliome v1.4235 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.523 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Congenital Heart Defect v0.522 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.162 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.161 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v1.56 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Hereditary Neuropathy v1.55 COX18 Zornitza Stark edited their review of gene: COX18: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Mitochondrial disease v1.14 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Mitochondrial disease v1.13 COX18 Zornitza Stark reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4235 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Mendeliome v1.4234 COX18 Zornitza Stark reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4234 FOXH1 Chirag Patel Phenotypes for gene: FOXH1 were changed from Congenital heart disease to Congenital heart disease
Mendeliome v1.4234 FOXH1 Chirag Patel Phenotypes for gene: FOXH1 were changed from Congenital heart disease to Congenital heart disease
Mendeliome v1.4233 FOXH1 Chirag Patel Phenotypes for gene: FOXH1 were changed from Congenital heart disease; holoprosencephaly to Congenital heart disease
Intellectual disability syndromic and non-syndromic v1.650 Sarah Milton Copied Region ISCA-37448-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.650 ISCA-37448-Loss Sarah Milton Region: ISCA-37448-Loss was added
Region: ISCA-37448-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-37448-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37448-Loss were set to Chromosome 15q11.2 deletion syndrome, MIM#615656
Penetrance for Region: ISCA-37448-Loss were set to Incomplete
Mendeliome v1.4232 SMARCA1 Zornitza Stark Publications for gene: SMARCA1 were set to 26740508; 26539891; 29249292; 37841849
Mendeliome v1.4231 SMARCA1 Zornitza Stark edited their review of gene: SMARCA1: Added comment: Now published.; Changed publications: 37841849, 41213919
Intellectual disability syndromic and non-syndromic v1.649 SMARCA1 Zornitza Stark Publications for gene: SMARCA1 were set to 37841849
Intellectual disability syndromic and non-syndromic v1.648 SMARCA1 Zornitza Stark edited their review of gene: SMARCA1: Added comment: Now published.; Changed publications: 37841849, 41213919
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46299-Gain Zornitza Stark Marked Region: ISCA-46299-Gain as ready
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Autism v0.243 ISCA-46300-Loss Zornitza Stark Marked Region: ISCA-46300-Loss as ready
Autism v0.243 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Autism v0.243 ISCA-46300-Loss Zornitza Stark Classified Region: ISCA-46300-Loss as Green List (high evidence)
Autism v0.243 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Marked Region: ISCA-46300-Loss as ready
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Classified Region: ISCA-46300-Loss as Green List (high evidence)
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Marked Region: ISCA-46300-Loss as ready
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Classified Region: ISCA-46300-Loss as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Marked Region: ISCA-46302-Gain as ready
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Region: isca-46302-gain has been classified as Green List (High Evidence).
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Classified Region: ISCA-46302-Gain as Green List (high evidence)
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Region: isca-46302-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.155 ISCA-46304-Gain Zornitza Stark Marked Region: ISCA-46304-Gain as ready
Common deletion and duplication syndromes v0.155 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.155 ISCA-46304-Gain Zornitza Stark Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Common deletion and duplication syndromes v0.154 ISCA-46304-Gain Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.154 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Marked Region: ISCA-46304-Gain as ready
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence)
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Marked Region: ISCA-46304-Gain as ready
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Marked Region: ISCA-46743-Gain as ready
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Classified Region: ISCA-46743-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Marked Region: ISCA-46743-Gain as ready
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Classified Region: ISCA-46743-Gain as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.645 Sarah Milton Copied Region ISCA-46743-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.645 ISCA-46743-Gain Sarah Milton Region: ISCA-46743-Gain was added
Region: ISCA-46743-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46743-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979
Common deletion and duplication syndromes v0.152 ISCA-46743-Gain Sarah Milton Phenotypes for Region: ISCA-46743-Gain were changed from Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome to Xq25 duplication syndrome, MIM#300979
Intellectual disability syndromic and non-syndromic v1.644 Sarah Milton Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.644 ISCA-46304-Gain Sarah Milton Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283
Genetic Epilepsy v1.364 Sarah Milton Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.364 ISCA-46304-Gain Sarah Milton Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Genetic Epilepsy. Sources: ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283
Common deletion and duplication syndromes v0.151 ISCA-46304-Gain Sarah Milton Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283
Review for Region: ISCA-46304-Gain was set to GREEN
Added comment: Known Clingen triplosensitive region containing MECP2 and IRAK1. Associated with intellectual disability, seizures, hypotonia, mild dysmorphism. Typically affects males but females may be mildly affected.
Sources: ClinGen
Differences of Sex Development v1.37 Sarah Milton Copied Region ISCA-46302-Gain from panel Common deletion and duplication syndromes
Differences of Sex Development v1.37 ISCA-46302-Gain Sarah Milton Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Differences of Sex Development. Sources: ClinGen
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-46302-Gain were set to 46,XY sex reversal 2, MONDO:0010226
Intellectual disability syndromic and non-syndromic v1.643 Sarah Milton Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.643 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Fetal anomalies v1.524 Sarah Milton Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.524 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Fetal anomalies. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Autism v0.242 Sarah Milton Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes
Autism v0.242 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Autism. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Intellectual disability syndromic and non-syndromic v1.642 Sarah Milton Copied Region ISCA-46299-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.642 ISCA-46299-Gain Sarah Milton Region: ISCA-46299-Gain was added
Region: ISCA-46299-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-46299-Gain.
Mode of inheritance for Region: ISCA-46299-Gain 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 Region: ISCA-46299-Gain were set to PMID: 22840365
Phenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705
Mendeliome v1.4231 Chirag Patel Added reviews for gene KDM1A from panel Primary nodular adrenocortical disease
Primary nodular adrenocortical disease v0.15 KDM1A Chirag Patel Classified gene: KDM1A as Green List (high evidence)
Primary nodular adrenocortical disease v0.15 KDM1A Chirag Patel Gene: kdm1a has been classified as Green List (High Evidence).
Primary nodular adrenocortical disease v0.14 KDM1A Chirag Patel Marked gene: KDM1A as ready
Primary nodular adrenocortical disease v0.14 KDM1A Chirag Patel Gene: kdm1a has been classified as Red List (Low Evidence).
Primary nodular adrenocortical disease v0.14 KDM1A Chirag Patel gene: KDM1A was added
gene: KDM1A was added to Primary nodular adrenocortical disease. Sources: Literature
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM1A were set to 34655521, 34906447
Phenotypes for gene: KDM1A were set to ACTH-independent macronodular adrenal hyperplasia 3, MONDO:0700299
Review for gene: KDM1A was set to GREEN
Added comment: Numerous cases reported and established gene-disease association.
Sources: Literature
Primary nodular adrenocortical disease v0.13 Chirag Patel Panel name changed from Primary pigmented nodular adrenocortical disease to Primary nodular adrenocortical disease
HPO terms changed from Pigmented micronodular adrenocortical disease, HP:0001580 to Pigmented micronodular adrenocortical disease, HP:0001580; Macronodular adrenal hyperplasia, HP:0008231
Aortopathy_Connective Tissue Disorders v1.102 MYADML2 Zornitza Stark Marked gene: MYADML2 as ready
Aortopathy_Connective Tissue Disorders v1.102 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v1.102 Zornitza Stark Copied gene MYADML2 from panel Mendeliome
Aortopathy_Connective Tissue Disorders v1.102 MYADML2 Zornitza Stark gene: MYADML2 was added
gene: MYADML2 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Red,Literature
SV/CNV tags were added to gene: MYADML2.
Mode of inheritance for gene: MYADML2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYADML2 were set to 32778762
Phenotypes for gene: MYADML2 were set to MYADML2-related connective tissue disroder MONDO:0003900
Mendeliome v1.4230 MYADML2 Zornitza Stark Phenotypes for gene: MYADML2 were changed from Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles to MYADML2-related connective tissue disroder MONDO:0003900
Mendeliome v1.4229 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)
Mitochondrial disease v1.13 OXA1L Zornitza Stark Phenotypes for gene: OXA1L were changed from encephalopathy; hypotonia; developmental delay to OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Mitochondrial disease v1.12 OXA1L Zornitza Stark edited their review of gene: OXA1L: Changed phenotypes: OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Mendeliome v1.4228 OXA1L Zornitza Stark Phenotypes for gene: OXA1L were changed from Encephalopathy; hypotonia; developmental delay to OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Fetal anomalies v1.523 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities; early neonatal death to PAICS deficiency MONDO:0859003
Fetal anomalies v1.522 PAICS Zornitza Stark edited their review of gene: PAICS: Changed phenotypes: PAICS deficiency MONDO:0859003
Mendeliome v1.4227 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to PAICS deficiency MONDO:0859003
Mendeliome v1.4226 PAX3 Zornitza Stark Publications for gene: PAX3 were set to 20301703; 30854529
Mendeliome v1.4225 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4224 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485
Mendeliome v1.4223 DARS2 Zornitza Stark Publications for gene: DARS2 were set to 17384640; 15002045; 16788019
Mendeliome v1.4222 DARS2 Zornitza Stark edited their review of gene: DARS2: Added comment: PMID 40814755 reports 5 individuals from 3 unrelated families with CMT.; Changed publications: 17384640, 15002045, 16788019, 40814755; Changed phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105, Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485
Hereditary Neuropathy v1.55 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings to Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485
Hereditary Neuropathy v1.54 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Hereditary Neuropathy v1.53 DARS2 Zornitza Stark reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40814755; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.418 XK Zornitza Stark Marked gene: XK as ready
Incidentalome v0.418 XK Zornitza Stark Gene: xk has been classified as Green List (High Evidence).
Incidentalome v0.418 XK Zornitza Stark Phenotypes for gene: XK were changed from to McLeod Syndrome with or without chronic granulomatous disease (MIM#300842)
Incidentalome v0.417 XK Zornitza Stark Publications for gene: XK were set to
Incidentalome v0.416 XK Zornitza Stark Mode of inheritance for gene: XK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v1.363 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.362 STXBP1 Zornitza Stark edited their review of gene: STXBP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.362 STXBP1 Zornitza Stark changed review comment from: Note recent report of BIALLELIC variants in this gene causing EE through GoF in two families.; to: Note recent report of BIALLELIC variants in this gene causing EE through GoF in one family. RED for this MOI.
Early-onset Dementia v1.55 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Early-onset Dementia v1.55 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Early-onset Dementia v1.55 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Intellectual disability syndromic and non-syndromic v1.641 SPART Zornitza Stark Phenotypes for gene: SPART were changed from Troyer syndrome; OMIM #275900 to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156
Intellectual disability syndromic and non-syndromic v1.640 SPART Zornitza Stark Publications for gene: SPART were set to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386
Mendeliome v1.4222 SPART Zornitza Stark Marked gene: SPART as ready
Mendeliome v1.4222 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Mendeliome v1.4222 Zornitza Stark Copied gene SPART from panel Hereditary Spastic Paraplegia
Mendeliome v1.4222 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Mendeliome. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to 12134148; 20437587; 26003402; 27112432; 31535723; 31535723; 28875386; 28679690
Phenotypes for gene: SPART were set to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156
Intellectual disability syndromic and non-syndromic v1.639 Zornitza Stark Added reviews for gene SPART from panel Hereditary Spastic Paraplegia
Incidentalome v0.415 SPART Zornitza Stark reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v0.415 SPART Zornitza Stark Classified gene: SPART as No list
Incidentalome v0.415 SPART Zornitza Stark Gene: spart has been removed from the panel.
Mendeliome v1.4221 SCN1B Zornitza Stark reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4221 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Mendeliome v1.4221 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Mendeliome v1.4221 Zornitza Stark Copied gene SCN1B from panel Genetic Epilepsy
Mendeliome v1.4221 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to Mendeliome. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Epilepsy Flagship
Mode of inheritance for gene: SCN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN1B were set to 19710327; 28218389; 23148524
Phenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)
Incidentalome v0.414 SCN1B Zornitza Stark Classified gene: SCN1B as No list
Incidentalome v0.414 SCN1B Zornitza Stark Gene: scn1b has been removed from the panel.
Incidentalome v0.413 SCN1B Zornitza Stark reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v0.413 PRKN Zornitza Stark Marked gene: PRKN as ready
Incidentalome v0.413 PRKN Zornitza Stark Gene: prkn has been classified as Green List (High Evidence).
Incidentalome v0.413 PRKN Zornitza Stark Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2 MIM#600116
Incidentalome v0.412 PRKN Zornitza Stark Publications for gene: PRKN were set to
Incidentalome v0.411 PRKN Zornitza Stark Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.410 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Incidentalome v0.410 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Incidentalome v0.410 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337; Mismatch repair cancer syndrome 4, MIM# 619101
Incidentalome v0.409 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Incidentalome v0.408 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed phenotypes: Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337, Mismatch repair cancer syndrome 4, MIM# 619101
Incidentalome v0.408 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Incidentalome v0.408 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Incidentalome v0.408 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Incidentalome v0.408 PINK1 Zornitza Stark Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset MIM#605909
Incidentalome v0.407 PINK1 Zornitza Stark Publications for gene: PINK1 were set to
Incidentalome v0.406 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.405 PARK7 Zornitza Stark Marked gene: PARK7 as ready
Incidentalome v0.405 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Incidentalome v0.405 PARK7 Zornitza Stark Phenotypes for gene: PARK7 were changed from to Parkinson disease 7, autosomal recessive early-onset MIM#606324
Incidentalome v0.404 PARK7 Zornitza Stark Publications for gene: PARK7 were set to 11462174; 11835383; 16240358; 20301402; 29644727
Incidentalome v0.404 PARK7 Zornitza Stark Publications for gene: PARK7 were set to
Incidentalome v0.403 PARK7 Zornitza Stark Mode of inheritance for gene: PARK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4220 GGCX Zornitza Stark Phenotypes for gene: GGCX were changed from Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450 to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450; pulmonary arterial hypertension MONDO:0015924
Mendeliome v1.4219 GGCX Zornitza Stark Publications for gene: GGCX were set to 32785662; 30531603; 26758921
Mendeliome v1.4218 GGCX Zornitza Stark Mode of inheritance for gene: GGCX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4217 Zornitza Stark Added reviews for gene GGCX from panel Pulmonary Arterial Hypertension
Mendeliome v1.4216 ARHGAP19 Zornitza Stark Phenotypes for gene: ARHGAP19 were changed from Motor Peripheral Neuropathy; MONDO:0002316; ARHGAP19 related to Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466
Mendeliome v1.4215 ARHGAP19 Zornitza Stark reviewed gene: ARHGAP19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v1.9 LRP5 Sangavi Sivagnanasundram reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 12172548, 12579474; Phenotypes: LRP5-related exudative vitreoretinopathy MONDO:0700228; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.161 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Monogenic Diabetes v0.160 AIRE Chirag Patel Marked gene: AIRE as ready
Monogenic Diabetes v0.160 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Monogenic Diabetes v0.160 Chirag Patel Copied gene AIRE from panel Adrenal insufficiency
Monogenic Diabetes v0.160 AIRE Chirag Patel gene: AIRE was added
gene: AIRE was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Adrenal insufficiency v0.57 Chirag Patel Panel status changed from internal to public
Adrenal insufficiency v0.56 SIX3 Chirag Patel Marked gene: SIX3 as ready
Adrenal insufficiency v0.56 SIX3 Chirag Patel Gene: six3 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.56 GPR161 Chirag Patel Marked gene: GPR161 as ready
Adrenal insufficiency v0.56 GPR161 Chirag Patel Gene: gpr161 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.56 TGIF1 Chirag Patel Marked gene: TGIF1 as ready
Adrenal insufficiency v0.56 TGIF1 Chirag Patel Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 SHH Chirag Patel Marked gene: SHH as ready
Adrenal insufficiency v0.56 SHH Chirag Patel Gene: shh has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 RBM28 Chirag Patel Marked gene: RBM28 as ready
Adrenal insufficiency v0.56 RBM28 Chirag Patel Gene: rbm28 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 RAX Chirag Patel Marked gene: RAX as ready
Adrenal insufficiency v0.56 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 MCM4 Chirag Patel Marked gene: MCM4 as ready
Adrenal insufficiency v0.56 MCM4 Chirag Patel Gene: mcm4 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 KCNQ1 Chirag Patel Marked gene: KCNQ1 as ready
Adrenal insufficiency v0.56 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ESRP2 Chirag Patel Marked gene: ESRP2 as ready
Adrenal insufficiency v0.56 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 CDON Chirag Patel Marked gene: CDON as ready
Adrenal insufficiency v0.56 CDON Chirag Patel Gene: cdon has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ARNT2 Chirag Patel Marked gene: ARNT2 as ready
Adrenal insufficiency v0.56 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ZRSR2 Chirag Patel Marked gene: ZRSR2 as ready
Adrenal insufficiency v0.56 ZRSR2 Chirag Patel Gene: zrsr2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 TBX19 Chirag Patel Marked gene: TBX19 as ready
Adrenal insufficiency v0.56 TBX19 Chirag Patel Gene: tbx19 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 TBC1D32 Chirag Patel Marked gene: TBC1D32 as ready
Adrenal insufficiency v0.56 TBC1D32 Chirag Patel Gene: tbc1d32 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 STAR Chirag Patel Marked gene: STAR as ready
Adrenal insufficiency v0.56 STAR Chirag Patel Gene: star has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SOX3 Chirag Patel Marked gene: SOX3 as ready
Adrenal insufficiency v0.56 SOX3 Chirag Patel Gene: sox3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SGPL1 Chirag Patel Marked gene: SGPL1 as ready
Adrenal insufficiency v0.56 SGPL1 Chirag Patel Gene: sgpl1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SAMD9 Chirag Patel Marked gene: SAMD9 as ready
Adrenal insufficiency v0.56 SAMD9 Chirag Patel Gene: samd9 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 ROBO1 Chirag Patel Marked gene: ROBO1 as ready
Adrenal insufficiency v0.56 ROBO1 Chirag Patel Gene: robo1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 POR Chirag Patel Marked gene: POR as ready
Adrenal insufficiency v0.56 POR Chirag Patel Gene: por has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 POMC Chirag Patel Marked gene: POMC as ready
Adrenal insufficiency v0.56 POMC Chirag Patel Gene: pomc has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 PCSK1 Chirag Patel Marked gene: PCSK1 as ready
Adrenal insufficiency v0.56 PCSK1 Chirag Patel Gene: pcsk1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 OTX2 Chirag Patel Marked gene: OTX2 as ready
Adrenal insufficiency v0.56 OTX2 Chirag Patel Gene: otx2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NR5A1 Chirag Patel Marked gene: NR5A1 as ready
Adrenal insufficiency v0.56 NR5A1 Chirag Patel Gene: nr5a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NR0B1 Chirag Patel Marked gene: NR0B1 as ready
Adrenal insufficiency v0.56 NR0B1 Chirag Patel Gene: nr0b1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NNT Chirag Patel Marked gene: NNT as ready
Adrenal insufficiency v0.56 NNT Chirag Patel Gene: nnt has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 MRAP Chirag Patel Marked gene: MRAP as ready
Adrenal insufficiency v0.56 MRAP Chirag Patel Gene: mrap has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 MC2R Chirag Patel Marked gene: MC2R as ready
Adrenal insufficiency v0.56 MC2R Chirag Patel Gene: mc2r has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LIPA Chirag Patel Marked gene: LIPA as ready
Adrenal insufficiency v0.56 LIPA Chirag Patel Gene: lipa has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LHX4 Chirag Patel Marked gene: LHX4 as ready
Adrenal insufficiency v0.56 LHX4 Chirag Patel Gene: lhx4 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LHX3 Chirag Patel Marked gene: LHX3 as ready
Adrenal insufficiency v0.56 LHX3 Chirag Patel Gene: lhx3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HSD3B2 Chirag Patel Marked gene: HSD3B2 as ready
Adrenal insufficiency v0.56 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HID1 Chirag Patel Marked gene: HID1 as ready
Adrenal insufficiency v0.56 HID1 Chirag Patel Gene: hid1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HESX1 Chirag Patel Marked gene: HESX1 as ready
Adrenal insufficiency v0.56 HESX1 Chirag Patel Gene: hesx1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 GLI3 Chirag Patel Marked gene: GLI3 as ready
Adrenal insufficiency v0.56 GLI3 Chirag Patel Gene: gli3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 GLI2 Chirag Patel Marked gene: GLI2 as ready
Adrenal insufficiency v0.56 GLI2 Chirag Patel Gene: gli2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP21A2 Chirag Patel Marked gene: CYP21A2 as ready
Adrenal insufficiency v0.56 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP17A1 Chirag Patel Marked gene: CYP17A1 as ready
Adrenal insufficiency v0.56 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11B2 Chirag Patel Marked gene: CYP11B2 as ready
Adrenal insufficiency v0.56 CYP11B2 Chirag Patel Gene: cyp11b2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11B1 Chirag Patel Marked gene: CYP11B1 as ready
Adrenal insufficiency v0.56 CYP11B1 Chirag Patel Gene: cyp11b1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11A1 Chirag Patel Marked gene: CYP11A1 as ready
Adrenal insufficiency v0.56 CYP11A1 Chirag Patel Gene: cyp11a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CDKN1C Chirag Patel Marked gene: CDKN1C as ready
Adrenal insufficiency v0.56 CDKN1C Chirag Patel Gene: cdkn1c has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 AIRE Chirag Patel Marked gene: AIRE as ready
Adrenal insufficiency v0.56 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 ABCD1 Chirag Patel Marked gene: ABCD1 as ready
Adrenal insufficiency v0.56 ABCD1 Chirag Patel Gene: abcd1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 AAAS Chirag Patel Marked gene: AAAS as ready
Adrenal insufficiency v0.56 AAAS Chirag Patel Gene: aaas has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NFKB2 Chirag Patel Marked gene: NFKB2 as ready
Adrenal insufficiency v0.56 NFKB2 Chirag Patel Gene: nfkb2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel Marked gene: NFKB2 as ready
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel Gene: nfkb2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.173 Chirag Patel Copied gene NFKB2 from panel Mendeliome
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel gene: NFKB2 was added
gene: NFKB2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 24140114; 24888602; 25524009; 31417880
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency
Adrenal insufficiency v0.56 Chirag Patel Copied gene NFKB2 from panel Mendeliome
Adrenal insufficiency v0.56 NFKB2 Chirag Patel gene: NFKB2 was added
gene: NFKB2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 24140114; 24888602; 25524009; 31417880
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency
Adrenal insufficiency v0.55 POLE Chirag Patel Marked gene: POLE as ready
Adrenal insufficiency v0.55 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Adrenal insufficiency v0.55 POLE Chirag Patel Classified gene: POLE as Green List (high evidence)
Adrenal insufficiency v0.55 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Adrenal insufficiency v0.54 POLE Chirag Patel gene: POLE was added
gene: POLE was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519
Phenotypes for gene: POLE were set to IMAGE-I syndrome, MONDO:0032684
Review for gene: POLE was set to GREEN
Added comment: IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.
15 individuals from 12 families reported with a recurrent intronic variant (c.1686+32C-G, intron 15) found in combination with multiple other variants.
Sources: Literature
Mendeliome v1.4215 APPL1 Zornitza Stark Publications for gene: APPL1 were set to 26073777; 36208030
Mendeliome v1.4214 APPL1 Zornitza Stark reviewed gene: APPL1: Rating: RED; Mode of pathogenicity: None; Publications: 40779032; Phenotypes: ; Mode of inheritance: None
Adrenal insufficiency v0.53 LIPA Chirag Patel commented on gene: LIPA
Adrenal insufficiency v0.53 Chirag Patel Copied gene LIPA from panel Mendeliome
Adrenal insufficiency v0.53 LIPA Chirag Patel gene: LIPA was added
gene: LIPA was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: LIPA.
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 11487567
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204
Adrenal insufficiency v0.52 PEX1 Chirag Patel Marked gene: PEX1 as ready
Adrenal insufficiency v0.52 PEX1 Chirag Patel Gene: pex1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.52 PEX1 Chirag Patel Classified gene: PEX1 as Green List (high evidence)
Adrenal insufficiency v0.52 PEX1 Chirag Patel Gene: pex1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.51 PEX1 Chirag Patel gene: PEX1 was added
gene: PEX1 was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100
Review for gene: PEX1 was set to GREEN
Added comment: Well established gene-disease association. Small adrenals is a feature of the condition.
Sources: Literature
Adrenal insufficiency v0.50 Chirag Patel Added reviews for gene GLI3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.49 Chirag Patel Copied gene NR5A1 from panel Differences of Sex Development
Adrenal insufficiency v0.49 NR5A1 Chirag Patel gene: NR5A1 was added
gene: NR5A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NR5A1 were set to 31513305; 38650427; 20453312
Phenotypes for gene: NR5A1 were set to Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)
Mendeliome v1.4214 Chirag Patel Added reviews for gene AIRE from panel Disorders of immune dysregulation
Adrenal insufficiency v0.48 Chirag Patel Copied gene AIRE from panel Disorders of immune dysregulation
Adrenal insufficiency v0.48 AIRE Chirag Patel gene: AIRE was added
gene: AIRE was added to Adrenal insufficiency. Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Adrenal insufficiency v0.47 Chirag Patel Copied gene SGPL1 from panel Mendeliome
Adrenal insufficiency v0.47 SGPL1 Chirag Patel gene: SGPL1 was added
gene: SGPL1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 33074640
Phenotypes for gene: SGPL1 were set to RENI syndrome (MIM#617575)
Adrenal insufficiency v0.46 Chirag Patel Copied gene ABCD1 from panel Mendeliome
Adrenal insufficiency v0.46 ABCD1 Chirag Patel gene: ABCD1 was added
gene: ABCD1 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy MIM#300100
Adrenal insufficiency v0.45 Chirag Patel Copied gene MCM4 from panel Mendeliome
Adrenal insufficiency v0.45 MCM4 Chirag Patel gene: MCM4 was added
gene: MCM4 was added to Adrenal insufficiency. Sources: Expert Review Amber,Victorian Clinical Genetics Services
founder tags were added to gene: MCM4.
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM4 were set to 22354167; 22354170; 22499342
Phenotypes for gene: MCM4 were set to Immunodeficiency 54 MIM# 609981; Decreased NK cell number and function; Viral infections (EBV, HSV, VZV); Short stature; B cell lymphoma; Adrenal failure; Failure to thrive; Microcephaly; Increased chromosomal breakage; Hyperpigmentation; Lymphadenopathy
Adrenal insufficiency v0.44 Chirag Patel Copied gene AAAS from panel Prepair 1000+
Adrenal insufficiency v0.44 AAAS Chirag Patel gene: AAAS was added
gene: AAAS was added to Adrenal insufficiency. Sources: Expert Review Green,Mackenzie's Mission
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 29255950
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Adrenal insufficiency v0.43 SAMD9 Chirag Patel commented on gene: SAMD9
Adrenal insufficiency v0.43 Chirag Patel Copied gene SAMD9 from panel Differences of Sex Development
Adrenal insufficiency v0.43 SAMD9 Chirag Patel gene: SAMD9 was added
gene: SAMD9 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome (MIM#617053)
Mendeliome v1.4213 GINS4 Zornitza Stark Publications for gene: GINS4 were set to 36345943
Mendeliome v1.4212 GINS4 Zornitza Stark Classified gene: GINS4 as Amber List (moderate evidence)
Mendeliome v1.4212 GINS4 Zornitza Stark Gene: gins4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4211 GINS4 Zornitza Stark reviewed gene: GINS4: Rating: AMBER; Mode of pathogenicity: None; Publications: 39914554, 40510848; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: None
Adrenal insufficiency v0.42 WNT4 Chirag Patel Marked gene: WNT4 as ready
Adrenal insufficiency v0.42 WNT4 Chirag Patel Gene: wnt4 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.42 WNT4 Chirag Patel gene: WNT4 was added
gene: WNT4 was added to Adrenal insufficiency. Sources: Expert List
Mode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT4 were set to 18179883
Phenotypes for gene: WNT4 were set to SERKAL syndrome, OMIM #611812
Review for gene: WNT4 was set to RED
Added comment: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome with adrenal anomalies has only been described in a single consanguineous kindred with four affected fetuses (A114V variant).
Sources: Expert List
Combined Immunodeficiency v1.142 GINS4 Zornitza Stark Publications for gene: GINS4 were set to 36345943
Combined Immunodeficiency v1.141 GINS4 Zornitza Stark Classified gene: GINS4 as Amber List (moderate evidence)
Combined Immunodeficiency v1.141 GINS4 Zornitza Stark Gene: gins4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.140 GINS4 Zornitza Stark edited their review of gene: GINS4: Changed rating: AMBER
Combined Immunodeficiency v1.140 GINS4 Zornitza Stark changed review comment from: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.

PMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; to: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.

PMID 40768335 reports further studies on the previously reported siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.
Combined Immunodeficiency v1.140 GINS4 Zornitza Stark edited their review of gene: GINS4: Added comment: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.

PMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; Changed publications: 39914554, 40510848
Adrenal insufficiency v0.41 Chirag Patel Copied gene NNT from panel Mendeliome
Adrenal insufficiency v0.41 NNT Chirag Patel gene: NNT was added
gene: NNT was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 22634753; 23474776; 25879317; 26070314; 27129361; 40709434
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
Adrenal insufficiency v0.40 Chirag Patel Copied gene MRAP from panel Mendeliome
Adrenal insufficiency v0.40 MRAP Chirag Patel gene: MRAP was added
gene: MRAP was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRAP were set to 15654338
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398
Adrenal insufficiency v0.39 Chirag Patel Copied gene MC2R from panel Mendeliome
Adrenal insufficiency v0.39 MC2R Chirag Patel gene: MC2R was added
gene: MC2R was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: MC2R.
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MC2R were set to 8094489; 8227361
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Adrenal insufficiency v0.38 PCSK1 Chirag Patel commented on gene: PCSK1
Adrenal insufficiency v0.38 Chirag Patel Copied gene PCSK1 from panel Mendeliome
Adrenal insufficiency v0.38 PCSK1 Chirag Patel gene: PCSK1 was added
gene: PCSK1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCSK1 were set to 30383237
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing MIM#600955
Adrenal insufficiency v0.37 Chirag Patel Copied gene POMC from panel Mendeliome
Adrenal insufficiency v0.37 POMC Chirag Patel gene: POMC was added
gene: POMC was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMC were set to 33666293
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Mendeliome v1.4211 CSNK1E Zornitza Stark Publications for gene: CSNK1E were set to 30488659
Mendeliome v1.4210 CSNK1E Zornitza Stark edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262
Genetic Epilepsy v1.362 CSNK1E Zornitza Stark Publications for gene: CSNK1E were set to 30488659
Adrenal insufficiency v0.36 Chirag Patel Copied gene SIX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.36 SIX3 Chirag Patel gene: SIX3 was added
gene: SIX3 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX3 were set to 35951005
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762
Genetic Epilepsy v1.361 CSNK1E Zornitza Stark edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262
Adrenal insufficiency v0.35 Chirag Patel Copied gene GPR161 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.35 GPR161 Chirag Patel gene: GPR161 was added
gene: GPR161 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp,Genomics England PanelApp
Mode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR161 were set to 25322266
Phenotypes for gene: GPR161 were set to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related
Adrenal insufficiency v0.34 Chirag Patel Copied gene TGIF1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.34 TGIF1 Chirag Patel gene: TGIF1 was added
gene: TGIF1 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGIF1 were set to 23476075, 34440302
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4, MONDO:0007734
Adrenal insufficiency v0.33 Chirag Patel Copied gene SHH from panel Pituitary hormone deficiency
Adrenal insufficiency v0.33 SHH Chirag Patel gene: SHH was added
gene: SHH was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHH were set to 22897141
Phenotypes for gene: SHH were set to Hypopituitarism, MONDO:0005152; Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Adrenal insufficiency v0.32 Chirag Patel Copied gene RBM28 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.32 RBM28 Chirag Patel gene: RBM28 was added
gene: RBM28 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 20231366; 18439547; 33941690
Phenotypes for gene: RBM28 were set to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Adrenal insufficiency v0.31 Chirag Patel Copied gene RAX from panel Pituitary hormone deficiency
Adrenal insufficiency v0.31 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Adrenal insufficiency. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30811539, 40321348
Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038
Adrenal insufficiency v0.30 Chirag Patel Copied gene KCNQ1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.30 KCNQ1 Chirag Patel gene: KCNQ1 was added
gene: KCNQ1 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500)
Adrenal insufficiency v0.29 Chirag Patel Copied gene ESRP2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.29 ESRP2 Chirag Patel gene: ESRP2 was added
gene: ESRP2 was added to Adrenal insufficiency. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152
Adrenal insufficiency v0.28 Chirag Patel Copied gene CDON from panel Pituitary hormone deficiency
Adrenal insufficiency v0.28 CDON Chirag Patel gene: CDON was added
gene: CDON was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDON were set to 21802063; 29749693; 32729136; 33270637; 26529631; 27974186
Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)
Adrenal insufficiency v0.27 Chirag Patel Copied gene ARNT2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.27 ARNT2 Chirag Patel gene: ARNT2 was added
gene: ARNT2 was added to Adrenal insufficiency. Sources: Expert Review Amber,Literature,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475, 11381139
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome 615926
Adrenal insufficiency v0.26 Chirag Patel Copied gene ZRSR2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.26 ZRSR2 Chirag Patel gene: ZRSR2 was added
gene: ZRSR2 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, MIM# 301132
Adrenal insufficiency v0.25 Chirag Patel Copied gene TBX19 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.25 TBX19 Chirag Patel gene: TBX19 was added
gene: TBX19 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX19 were set to 15613420, 31998673, 11290323, 15476446, 22170728
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400
Adrenal insufficiency v0.24 Chirag Patel Copied gene TBC1D32 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.24 TBC1D32 Chirag Patel gene: TBC1D32 was added
gene: TBC1D32 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556; 24285566; 31130284; 36826837; 40319332
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Adrenal insufficiency v0.23 Chirag Patel Copied gene SOX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.23 SOX3 Chirag Patel gene: SOX3 was added
gene: SOX3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
SV/CNV tags were added to gene: SOX3.
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Adrenal insufficiency v0.22 Chirag Patel Copied gene ROBO1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.22 ROBO1 Chirag Patel gene: ROBO1 was added
gene: ROBO1 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ROBO1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to PMID: 30530901; 30692597; 33270637; 28402530
Phenotypes for gene: ROBO1 were set to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Adrenal insufficiency v0.21 Chirag Patel Copied gene HESX1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.21 HESX1 Chirag Patel gene: HESX1 was added
gene: HESX1 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Adrenal insufficiency v0.20 Chirag Patel Copied gene OTX2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.20 OTX2 Chirag Patel gene: OTX2 was added
gene: OTX2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Adrenal insufficiency v0.19 Chirag Patel Copied gene LHX4 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.19 LHX4 Chirag Patel gene: LHX4 was added
gene: LHX4 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX4.
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX4 were set to 18073311; 18445675; 11567216
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Adrenal insufficiency v0.18 Chirag Patel Copied gene LHX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.18 LHX3 Chirag Patel gene: LHX3 was added
gene: LHX3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX3.
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Adrenal insufficiency v0.17 Chirag Patel Copied gene HID1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.17 HID1 Chirag Patel gene: HID1 was added
gene: HID1 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Adrenal insufficiency v0.16 Chirag Patel Copied gene GLI3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.16 GLI3 Chirag Patel gene: GLI3 was added
gene: GLI3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp,Genomics England PanelApp
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 24736735; 15739154; 9054938 10945658 11693785
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Adrenal insufficiency v0.15 Chirag Patel Copied gene GLI2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.15 GLI2 Chirag Patel gene: GLI2 was added
gene: GLI2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI2 were set to 14581620; 17096318; 33235745; 27585885; 15994174; 20685856; 30629636; 30583238
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Pituitary hormone deficiency v0.172 FGF17 Chirag Patel Phenotypes for gene: FGF17 were changed from to Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270
Adrenal insufficiency v0.14 Chirag Patel Copied gene NR0B1 from panel Mendeliome
Adrenal insufficiency v0.14 NR0B1 Chirag Patel gene: NR0B1 was added
gene: NR0B1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: NR0B1.
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NR0B1 were set to 19508677; 26030781
Phenotypes for gene: NR0B1 were set to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Adrenal insufficiency v0.13 Chirag Patel Copied gene CYP11B2 from panel Mendeliome
Adrenal insufficiency v0.13 CYP11B2 Chirag Patel gene: CYP11B2 was added
gene: CYP11B2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B2.
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B2 were set to 8439335; 9360501; 15240589; 9814506; 12788848; 8772616
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).
Adrenal insufficiency v0.12 Chirag Patel Copied gene STAR from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.12 STAR Chirag Patel gene: STAR was added
gene: STAR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAR were set to 7892608; 8634702
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia (MIM#201710)
Adrenal insufficiency v0.11 Chirag Patel Copied gene POR from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.11 POR Chirag Patel gene: POR was added
gene: POR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27068427
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Adrenal insufficiency v0.10 Chirag Patel Copied gene HSD3B2 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.10 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812; 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Adrenal insufficiency v0.9 Chirag Patel Copied gene CYP21A2 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.9 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Adrenal insufficiency v0.8 Chirag Patel Copied gene CYP17A1 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.8 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Adrenal insufficiency v0.7 Chirag Patel Copied gene CYP11B1 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.7 CYP11B1 Chirag Patel gene: CYP11B1 was added
gene: CYP11B1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B1.
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B1 were set to 8768848
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Adrenal insufficiency v0.6 Chirag Patel Copied gene CYP11A1 from panel Differences of Sex Development
Adrenal insufficiency v0.6 CYP11A1 Chirag Patel gene: CYP11A1 was added
gene: CYP11A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11A1 were set to 12161514; 16705068; 18182448; 28425981
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Adrenal insufficiency v0.5 Chirag Patel Copied gene CDKN1C from panel Differences of Sex Development
Adrenal insufficiency v0.5 CDKN1C Chirag Patel gene: CDKN1C was added
gene: CDKN1C was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 22634751; 33076988; 31976094; 31497289
Phenotypes for gene: CDKN1C were set to IMAGe syndrome, MIM# 614732
Mode of pathogenicity for gene: CDKN1C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adrenal insufficiency v0.4 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Adrenal insufficiency v0.3 Chirag Patel HPO terms changed from to Adrenal insufficiency, HP:0000846; Congenital adrenal hypoplasia, HP:0008244
Congenital adrenal hyperplasia v0.8 Chirag Patel Panel status changed from internal to public
Congenital adrenal hyperplasia v0.7 STAR Chirag Patel Marked gene: STAR as ready
Congenital adrenal hyperplasia v0.7 STAR Chirag Patel Gene: star has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 POR Chirag Patel Marked gene: POR as ready
Congenital adrenal hyperplasia v0.7 POR Chirag Patel Gene: por has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 HSD3B2 Chirag Patel Marked gene: HSD3B2 as ready
Congenital adrenal hyperplasia v0.7 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 CYP21A2 Chirag Patel Marked gene: CYP21A2 as ready
Congenital adrenal hyperplasia v0.7 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 CYP11B1 Chirag Patel Marked gene: CYP11B1 as ready
Congenital adrenal hyperplasia v0.7 CYP11B1 Chirag Patel Gene: cyp11b1 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 Chirag Patel Copied gene STAR from panel Differences of Sex Development
Congenital adrenal hyperplasia v0.7 STAR Chirag Patel gene: STAR was added
gene: STAR was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAR were set to 7892608; 8634702
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia (MIM#201710)
Congenital adrenal hyperplasia v0.6 Chirag Patel Copied gene POR from panel Differences of Sex Development
Congenital adrenal hyperplasia v0.6 POR Chirag Patel gene: POR was added
gene: POR was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27068427
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Congenital adrenal hyperplasia v0.5 Chirag Patel Copied gene CYP11B1 from panel Differences of Sex Development
Congenital adrenal hyperplasia v0.5 CYP11B1 Chirag Patel gene: CYP11B1 was added
gene: CYP11B1 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B1.
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B1 were set to 8768848
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Congenital adrenal hyperplasia v0.4 HSD3B2 Chirag Patel Marked gene: HSD3B2 as ready
Congenital adrenal hyperplasia v0.4 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.4 CYP17A1 Chirag Patel Marked gene: CYP17A1 as ready
Congenital adrenal hyperplasia v0.4 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.4 Chirag Patel Copied gene HSD3B2 from panel Mendeliome
Congenital adrenal hyperplasia v0.4 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812; 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Congenital adrenal hyperplasia v0.3 Chirag Patel Copied gene CYP17A1 from panel Hypertension and Aldosterone disorders
Congenital adrenal hyperplasia v0.3 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Congenital adrenal hyperplasia v0.2 Chirag Patel Copied gene CYP21A2 from panel Hypertension and Aldosterone disorders
Congenital adrenal hyperplasia v0.2 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Congenital adrenal hyperplasia v0.1 Chirag Patel HPO terms changed from to Congenital adrenal hyperplasia, HP:0008258
Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Familial hypocalciuric hypercalcaemia v0.6 Chirag Patel Panel status changed from internal to public
Familial hypocalciuric hypercalcaemia v0.5 GNA11 Chirag Patel Marked gene: GNA11 as ready
Familial hypocalciuric hypercalcaemia v0.5 GNA11 Chirag Patel Gene: gna11 has been classified as Green List (High Evidence).
Familial hypocalciuric hypercalcaemia v0.5 AP2S1 Chirag Patel Marked gene: AP2S1 as ready
Familial hypocalciuric hypercalcaemia v0.5 AP2S1 Chirag Patel Gene: ap2s1 has been classified as Green List (High Evidence).
Familial hypocalciuric hypercalcaemia v0.5 Chirag Patel Copied gene GNA11 from panel Hypercalcaemia
Familial hypocalciuric hypercalcaemia v0.5 GNA11 Chirag Patel gene: GNA11 was added
gene: GNA11 was added to Familial hypocalciuric hypercalcaemia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 23802516; 28833550; 27913609
Phenotypes for gene: GNA11 were set to Hypocalciuric hypercalcaemia, type II, MIM# 145981; MONDO:0007792
Familial hypocalciuric hypercalcaemia v0.4 Chirag Patel Copied gene AP2S1 from panel Hypercalcaemia
Familial hypocalciuric hypercalcaemia v0.4 AP2S1 Chirag Patel gene: AP2S1 was added
gene: AP2S1 was added to Familial hypocalciuric hypercalcaemia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 23222959; 33729479; 33168530; 3204769; 31723423; 29479578
Phenotypes for gene: AP2S1 were set to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Hyperparathyroidism v0.10 Chirag Patel Panel status changed from internal to public
Hyperparathyroidism v0.9 RET Chirag Patel Marked gene: RET as ready
Hyperparathyroidism v0.9 RET Chirag Patel Gene: ret has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 MEN1 Chirag Patel Marked gene: MEN1 as ready
Hyperparathyroidism v0.9 MEN1 Chirag Patel Gene: men1 has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 GCM2 Chirag Patel Marked gene: GCM2 as ready
Hyperparathyroidism v0.9 GCM2 Chirag Patel Gene: gcm2 has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 CDKN1B Chirag Patel Marked gene: CDKN1B as ready
Hyperparathyroidism v0.9 CDKN1B Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 CDC73 Chirag Patel Marked gene: CDC73 as ready
Hyperparathyroidism v0.9 CDC73 Chirag Patel Gene: cdc73 has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 Chirag Patel Copied gene GCM2 from panel Hypercalcaemia
Hyperparathyroidism v0.9 GCM2 Chirag Patel gene: GCM2 was added
gene: GCM2 was added to Hyperparathyroidism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GCM2 were set to 27745835
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343
Penetrance for gene: GCM2 were set to unknown
Mode of pathogenicity for gene: GCM2 was set to Other
Hyperparathyroidism v0.8 Chirag Patel Copied gene RET from panel Calcium and Phosphate disorders
Hyperparathyroidism v0.8 RET Chirag Patel gene: RET was added
gene: RET was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert Review Green,Expert Review
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Hyperparathyroidism v0.7 Chirag Patel Copied gene MEN1 from panel Calcium and Phosphate disorders
Hyperparathyroidism v0.7 MEN1 Chirag Patel gene: MEN1 was added
gene: MEN1 was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to PMID: 31797261, 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Hyperparathyroidism v0.6 Chirag Patel Copied gene CDKN1B from panel Mendeliome
Hyperparathyroidism v0.6 CDKN1B Chirag Patel gene: CDKN1B was added
gene: CDKN1B was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to 24819502; 17030811; 23555276
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Hyperparathyroidism v0.5 Chirag Patel Copied gene CDC73 from panel Hypercalcaemia
Hyperparathyroidism v0.5 CDC73 Chirag Patel gene: CDC73 was added
gene: CDC73 was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC73 were set to 12434154
Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Familial hypocalciuric hypercalcaemia v0.3 Chirag Patel HPO terms changed from to Hypocalciuria, HP:0003127; Hypercalcemia, HP:0003072
Hyperparathyroidism v0.4 CASR Chirag Patel Classified gene: CASR as Green List (high evidence)
Hyperparathyroidism v0.4 CASR Chirag Patel Gene: casr has been classified as Green List (High Evidence).
Familial hypocalciuric hypercalcaemia v0.2 CASR Chirag Patel Classified gene: CASR as Green List (high evidence)
Familial hypocalciuric hypercalcaemia v0.2 CASR Chirag Patel Gene: casr has been classified as Green List (High Evidence).
Hyperparathyroidism v0.3 CASR Chirag Patel Marked gene: CASR as ready
Hyperparathyroidism v0.3 CASR Chirag Patel Gene: casr has been classified as Red List (Low Evidence).
Familial hypocalciuric hypercalcaemia v0.1 CASR Chirag Patel Marked gene: CASR as ready
Familial hypocalciuric hypercalcaemia v0.1 CASR Chirag Patel Gene: casr has been classified as Red List (Low Evidence).
Familial hypocalciuric hypercalcaemia v0.1 CASR Chirag Patel gene: CASR was added
gene: CASR was added to Familial hypocalciuric hypercalcaemia. Sources: Genomics England PanelApp
Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASR were set to 7916660,19423559,9011580,7717399,17698911,7726161
Phenotypes for gene: CASR were set to Familial hypocalciuric hypercalcemia 1, MONDO:0007791
Review for gene: CASR was set to GREEN
Added comment: Well established gene-disease association.
Sources: Genomics England PanelApp
Hyperparathyroidism v0.3 CASR Chirag Patel gene: CASR was added
gene: CASR was added to Hyperparathyroidism. Sources: Genomics England PanelApp
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASR were set to 8675635,15292296,9253359,8675635,25162666,28740527
Phenotypes for gene: CASR were set to Neonatal severe primary hyperparathyroidism, MONDO:0009397
Review for gene: CASR was set to GREEN
Added comment: Well established gene-disease association.
Sources: Genomics England PanelApp
Hyperparathyroidism v0.2 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Hyperparathyroidism v0.1 Chirag Patel HPO terms changed from to Hyperparathyroidism, HP:0000843
Familial hypoparathyroidism v1.13 Chirag Patel List of related panels changed from Hypoparathyroidism; HP:0000829 to
Mendeliome v1.4210 MFN2 Sangavi Sivagnanasundram reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary motor and sensory neuropathy MONDO:0015358, multiple symmetric lipomatosis with partial lipodystrophy MONDO:1060153; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4210 PAX3 Sangavi Sivagnanasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7726174; Phenotypes: Waardenburg syndrome MONDO:0018094; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4210 PDHB Sangavi Sivagnanasundram Publications for gene: PDHB were set to
Mendeliome v1.4209 MASP2 Sangavi Sivagnanasundram Publications for gene: MASP2 were set to
Mendeliome v1.4208 PAICS Sangavi Sivagnanasundram reviewed gene: PAICS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PAICS deficiency MONDO:0859003; Mode of inheritance: None
Mendeliome v1.4208 OXA1L Sangavi Sivagnanasundram reviewed gene: OXA1L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732; Mode of inheritance: None
Mendeliome v1.4208 GDF5 Lucy Spencer Phenotypes for gene: GDF5 were changed from Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)
Mendeliome v1.4207 GDF5 Lucy Spencer reviewed gene: GDF5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly MONDO:0021004, GDF5-related, Acromelic dysplasia MONDO:0019695, GDF5-related; Mode of inheritance: None
Mendeliome v1.4207 GNAS Lucy Spencer Phenotypes for gene: GNAS were changed from 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) to Disorder of GNAS inactivation MONDO:0800466; 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 v1.4206 GNAS Lucy Spencer reviewed gene: GNAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Disorder of GNAS inactivation MONDO:0800466; Mode of inheritance: None
Mendeliome v1.4206 KRT14 Lucy Spencer Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000 to Epidermolysis bullosa MONDO:0006541, KRT14-related; Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Mendeliome v1.4205 KRT14 Lucy Spencer reviewed gene: KRT14: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa MONDO:0006541, KRT14-related; Mode of inheritance: None
Mendeliome v1.4205 MYT1 Sangavi Sivagnanasundram reviewed gene: MYT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYT1-related oculoauriculovertebral spectrum MONDO:0007712; Mode of inheritance: None
Mendeliome v1.4205 KRT10 Lucy Spencer Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602 to Ichthyosis MONDO:0019269, KRT10-related; Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602
Mendeliome v1.4204 KRT10 Lucy Spencer reviewed gene: KRT10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis MONDO:0019269, KRT10-related; Mode of inheritance: None
Mendeliome v1.4204 KRT1 Lucy Spencer Phenotypes for gene: KRT1 were changed from Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Palmoplantar keratoderma, epidermolytic, MIM# 144200; Palmoplantar keratoderma, nonepidermolytic, MIM# 600962 to Ichthyosis MONDO:0019269, KRT1-related; Palmoplantar keratosis MONDO:0006590, KRT1-related; Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Palmoplantar keratoderma, epidermolytic, MIM# 144200; Palmoplantar keratoderma, nonepidermolytic, MIM# 600962
Mendeliome v1.4203 KRT1 Lucy Spencer reviewed gene: KRT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis MONDO:0019269, KRT1-related, Palmoplantar keratosis MONDO:0006590, KRT1-related; Mode of inheritance: None
Mendeliome v1.4203 KRT5 Lucy Spencer Phenotypes for gene: KRT5 were changed from Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800 to Epidermolysis bullosa MONDO:0006541, KRT5-related; Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Mendeliome v1.4202 KRT5 Lucy Spencer reviewed gene: KRT5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa MONDO:0006541, KRT5-related; Mode of inheritance: None
Mendeliome v1.4202 MYADML2 Sangavi Sivagnanasundram reviewed gene: MYADML2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYADML2-related connective tissue disroder MONDO:0003900; Mode of inheritance: None
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.638 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Intellectual disability syndromic and non-syndromic v1.638 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Callosome v0.588 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Callosome v0.588 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.134 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Hydrocephalus_Ventriculomegaly v0.134 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.134 Zornitza Stark Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic
Hydrocephalus_Ventriculomegaly v0.134 TMPRSS7 Zornitza Stark gene: TMPRSS7 was added
gene: TMPRSS7 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS7 were set to 40796295
Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related
Fetal anomalies v1.522 Zornitza Stark Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark gene: TMPRSS7 was added
gene: TMPRSS7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS7 were set to 40796295
Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related
Callosome v0.588 Zornitza Stark Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic
Callosome v0.588 TMPRSS7 Zornitza Stark gene: TMPRSS7 was added
gene: TMPRSS7 was added to Callosome. Sources: Literature
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS7 were set to 40796295
Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related
Intellectual disability syndromic and non-syndromic v1.638 TMPRSS7 Zornitza Stark changed review comment from: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus.
Sources: Literature; to: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder, presenting with fetal agenesis of the corpus callosum and ventriculomegaly. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus.
Sources: Literature
Autoinflammatory Disorders v2.45 SKAP2 Zornitza Stark Marked gene: SKAP2 as ready
Autoinflammatory Disorders v2.45 SKAP2 Zornitza Stark Gene: skap2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v2.45 Zornitza Stark Copied gene SKAP2 from panel Mendeliome
Autoinflammatory Disorders v2.45 SKAP2 Zornitza Stark gene: SKAP2 was added
gene: SKAP2 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SKAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SKAP2 were set to 40771593; 34172489
Phenotypes for gene: SKAP2 were set to Inborn error of immunity, MONDO:0003778
Mendeliome v1.4202 SKAP2 Zornitza Stark Marked gene: SKAP2 as ready
Mendeliome v1.4202 SKAP2 Zornitza Stark Gene: skap2 has been classified as Red List (Low Evidence).
Mendeliome v1.4202 SKAP2 Zornitza Stark gene: SKAP2 was added
gene: SKAP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SKAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SKAP2 were set to 40771593; 34172489
Phenotypes for gene: SKAP2 were set to Inborn error of immunity, MONDO:0003778
Review for gene: SKAP2 was set to RED
Added comment: PMID 34172489 reports a de novo heterozygous SKAP2 missense variant (c.457G>A, p.Gly153Arg) in a child with childhood‑onset type 1 diabetes and multiple autoimmune disorders; functional studies in THP‑1 macrophages, patient‑derived macrophages and neutrophils show constitutive SKAP2 activation and hyper‑integrin signaling. The same variant was later described in PMID 40771593.
Sources: Literature
Microcephaly v1.405 Rylee Peters Copied gene NRDC from panel Mendeliome
Microcephaly v1.405 NRDC Rylee Peters gene: NRDC was added
gene: NRDC was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654
Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related
Intellectual disability syndromic and non-syndromic v1.638 Rylee Peters Copied gene NRDC from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.638 NRDC Rylee Peters gene: NRDC was added
gene: NRDC was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654
Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related
Mendeliome v1.4201 NRDC Rylee Peters Classified gene: NRDC as Amber List (moderate evidence)
Mendeliome v1.4201 NRDC Rylee Peters Gene: nrdc has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4200 NRDC Rylee Peters gene: NRDC was added
gene: NRDC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654
Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related
Review for gene: NRDC was set to AMBER
Added comment: Two unrelated families reported with the same homozygous NMD-predicted frameshift variant. PMID: 41449824 describes two affected siblings with severe neurodevelopmental disorder (developmental delay, microcephaly, hypotonia, seizures, absent speech). PMID: 28017472 reports one individual with severe global developmental delay, ataxia, progressive neurodegeneration, and acquired microcephaly.

PMID: 34582790 describes an additional homozygous splice variant (NRDC c.3081-2A>G) in an infant with developmental delay, ventricular dilatation and large nevi; however, the individual was also homozygous for a pathogenic NANS missense variant (c.635T>C; p.I212T), which has an established gene–disease association.

PMID: 19935654 | Nrd1−/− mice show reduced brain size, thin cerebral cortex, central and peripheral hypomyelination, with motor impairment and cognitive deficits.
Sources: Literature
Incidentalome v0.402 VCP Zornitza Stark Marked gene: VCP as ready
Incidentalome v0.402 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Incidentalome v0.402 VCP Zornitza Stark Phenotypes for gene: VCP were changed from to Frontotemporal dementia and/or Amyotrophic lateral sclerosis 6 (MONDO:0013501; MIM 613954); Inclusion body myopathy with early-onset Paget Disease and FTD [IBMPFD] (MONDO:0000507MIM 167320)
Incidentalome v0.401 VCP Zornitza Stark Publications for gene: VCP were set to 21145000; 33004675
Incidentalome v0.400 VCP Zornitza Stark Publications for gene: VCP were set to
Incidentalome v0.399 VCP Zornitza Stark Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.398 PRNP Zornitza Stark Marked gene: PRNP as ready
Incidentalome v0.398 PRNP Zornitza Stark Gene: prnp has been classified as Green List (High Evidence).
Incidentalome v0.398 PRNP Zornitza Stark Phenotypes for gene: PRNP were changed from to Prion Disease (MIM#176640); Creutzfeldt-Jakob disease (MIM#123400)
Incidentalome v0.397 PRNP Zornitza Stark Publications for gene: PRNP were set to
Incidentalome v0.396 PRNP Zornitza Stark Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4199 NNT Zornitza Stark Publications for gene: NNT were set to 22634753; 23474776; 25879317; 26070314; 27129361
Mendeliome v1.4198 NNT Zornitza Stark reviewed gene: NNT: Rating: RED; Mode of pathogenicity: None; Publications: 40709434; Phenotypes: Familial sebaceous hyperplasia, MONDO:0011130, NNT-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.337 NAA15 Zornitza Stark Publications for gene: NAA15 were set to 38380600
Dystonia and Chorea v0.336 NAA15 Zornitza Stark edited their review of gene: NAA15: Added comment: Multiple reports of dystonia as part of the clinical presentation.; Changed publications: 38380600, 36221186, 35730864
Dystonia and Chorea v0.336 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from dystonia; neurodevelopmental delay to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787
Dystonia and Chorea v0.335 NAA15 Zornitza Stark reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.521 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Fetal anomalies v1.520 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed publications: 27476655, 33154040, 35300924
Fetal anomalies v1.520 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Clefting disorders v0.310 ARCN1 Zornitza Stark commented on gene: ARCN1: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Skeletal dysplasia v0.402 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Skeletal dysplasia v0.401 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed publications: 27476655, 33154040, 35300924
Skeletal dysplasia v0.401 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Intellectual disability syndromic and non-syndromic v1.637 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.636 ARCN1 Zornitza Stark changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Intellectual disability syndromic and non-syndromic v1.636 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.61 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Mendeliome v1.4198 ARCN1 Zornitza Stark changed review comment from: At least 8 unrelated families reported with heterozygous variants.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Microcephaly v1.404 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.403 ARCN1 Zornitza Stark changed review comment from: At least 14 individuals with the dominant disorder reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Microcephaly v1.403 ARCN1 Zornitza Stark changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; to: At least 14 individuals with the dominant disorder reported.
Microcephaly v1.403 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4198 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4197 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported with heterozygous variants.; to: At least 8 unrelated families reported with heterozygous variants.
Mendeliome v1.4197 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4197 ARCN1 Zornitza Stark Deleted their comment
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pierre Robin Sequence v0.59 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.636 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Intellectual disability syndromic and non-syndromic v1.635 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.634 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; Changed publications: 27476655, 33154040, 35300924; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Microcephaly v1.403 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655
Microcephaly v1.402 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Microcephaly v1.401 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; Changed rating: GREEN; Changed publications: 35300924, 27476655, 31075182, 33154040, 35300924, 38044464, 39731039, 40620618; Changed phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4197 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Mendeliome v1.4196 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4195 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported.; to: 4 unrelated families reported with heterozygous variants.
Mendeliome v1.4195 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; Changed publications: 27476655, 33154040, 35300924; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinitis pigmentosa v0.238 VWA8 Zornitza Stark Marked gene: VWA8 as ready
Retinitis pigmentosa v0.238 VWA8 Zornitza Stark Gene: vwa8 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Marked gene: TXNRD2 as ready
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Gene: txnrd2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Publications for gene: TXNRD2 were set to 24601690; 21247928; 34258490
Adrenal insufficiency v0.1 Zornitza Stark Copied gene TXNRD2 from panel Mendeliome
Adrenal insufficiency v0.1 TXNRD2 Zornitza Stark gene: TXNRD2 was added
gene: TXNRD2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNRD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNRD2 were set to 24601690; 21247928; 34258490
Phenotypes for gene: TXNRD2 were set to Glucocorticoid deficiency 5 (GCCD5), MIM#617825; MONDO:0040502
Rasopathy v0.113 YWHAZ Zornitza Stark Marked gene: YWHAZ as ready
Rasopathy v0.113 YWHAZ Zornitza Stark Gene: ywhaz has been classified as Amber List (Moderate Evidence).
Rasopathy v0.113 Zornitza Stark Copied gene YWHAZ from panel Intellectual disability syndromic and non-syndromic
Rasopathy v0.113 YWHAZ Zornitza Stark gene: YWHAZ was added
gene: YWHAZ was added to Rasopathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAZ were set to 36001342; 31024343; 35143101; 35501409; 22124272; 26207352; 40692796
Phenotypes for gene: YWHAZ were set to Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related
Intellectual disability syndromic and non-syndromic v1.634 YWHAZ Zornitza Stark Publications for gene: YWHAZ were set to 36001342
Mendeliome v1.4195 YWHAZ Zornitza Stark Publications for gene: YWHAZ were set to 36001342; 31024343; 35143101; 35501409; 22124272; 26207352
Mendeliome v1.4194 YWHAZ Zornitza Stark edited their review of gene: YWHAZ: Added comment: Further invidividual reported as part of a large CFC cohort PMID 40692796, missense variant, limited further information.; Changed publications: 36001342, 31024343, 35143101, 35501409, 22124272, 26207352, 40692796
Intellectual disability syndromic and non-syndromic v1.633 YWHAZ Zornitza Stark edited their review of gene: YWHAZ: Added comment: Further invidividual reported as part of a large CFC cohort PMID 40692796, missense variant, limited further information.; Changed publications: 31024343, 35143101, 35501409, 22124272, 26207352, 40692796
Early-onset Dementia v1.54 PRKCH Zornitza Stark Marked gene: PRKCH as ready
Early-onset Dementia v1.54 PRKCH Zornitza Stark Gene: prkch has been classified as Red List (Low Evidence).
Early-onset Dementia v1.54 PRKCH Zornitza Stark gene: PRKCH was added
gene: PRKCH was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: PRKCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKCH were set to 40591711
Phenotypes for gene: PRKCH were set to Alzheimer disease, MONDO:0004975, PRKCH-related
Review for gene: PRKCH was set to RED
Added comment: PMID 40591711 reports eight individuals from one family with a homozygous missense K65R variant
Sources: Literature
Mendeliome v1.4194 PRKCH Zornitza Stark Phenotypes for gene: PRKCH were changed from to Alzheimer disease, MONDO:0004975, PRKCH-related
Mendeliome v1.4193 PRKCH Zornitza Stark Publications for gene: PRKCH were set to
Mendeliome v1.4192 PRKCH Zornitza Stark Mode of inheritance for gene: PRKCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4191 PRKCH Zornitza Stark reviewed gene: PRKCH: Rating: RED; Mode of pathogenicity: None; Publications: 40591711; Phenotypes: Alzheimer disease, MONDO:0004975, PRKCH-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.78 NXF3 Zornitza Stark Marked gene: NXF3 as ready
Infertility and Recurrent Pregnancy Loss v1.78 NXF3 Zornitza Stark Gene: nxf3 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.78 Zornitza Stark Copied gene NXF3 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.78 NXF3 Zornitza Stark gene: NXF3 was added
gene: NXF3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NXF3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NXF3 were set to 40624043
Phenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related
Mendeliome v1.4191 NXF3 Zornitza Stark edited their review of gene: NXF3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4191 NXF3 Zornitza Stark Marked gene: NXF3 as ready
Mendeliome v1.4191 NXF3 Zornitza Stark Gene: nxf3 has been classified as Red List (Low Evidence).
Mendeliome v1.4191 NXF3 Zornitza Stark Mode of inheritance for gene: NXF3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4190 NXF3 Zornitza Stark gene: NXF3 was added
gene: NXF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NXF3 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: NXF3 were set to 40624043
Phenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related
Review for gene: NXF3 was set to RED
Added comment: PMID 40624043 reports a single individual with a hemizygous stop‑gain NXF3 variant inherited from a heterozygous carrier mother, presenting with severe oligoasthenoteratozoospermia. Functional studies show a truncated protein lacking the NTF2‑like domain, loss of binding to NXT2, and absence of NXF3 staining in sperm, supporting a loss‑of‑function mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.633 MED14 Zornitza Stark Marked gene: MED14 as ready
Intellectual disability syndromic and non-syndromic v1.633 MED14 Zornitza Stark Gene: med14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.633 Zornitza Stark Copied gene MED14 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.633 MED14 Zornitza Stark gene: MED14 was added
gene: MED14 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: MED14 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MED14 were set to PMID: 40597352
Phenotypes for gene: MED14 were set to Neurodevelopmental disorder (MONDO:0700092), MED14-related
Mendeliome v1.4189 TTC37 Zornitza Stark changed review comment from: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.; to: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.

New HGNC approved name is SKIC3.
Mendeliome v1.4189 TTC37 Zornitza Stark Tag new gene name tag was added to gene: TTC37.
Mendeliome v1.4189 LRRC6 Zornitza Stark changed review comment from: More than 10 unrelated families reported.

Newe HGNC approved name is DNAAF11.; to: More than 10 unrelated families reported.

New HGNC approved name is DNAAF11.
Mendeliome v1.4189 LRRC6 Zornitza Stark changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported.

Newe HGNC approved name is DNAAF11.
Mendeliome v1.4189 LRRC6 Zornitza Stark Tag new gene name tag was added to gene: LRRC6.
Infertility and Recurrent Pregnancy Loss v1.77 SUN5 Zornitza Stark Marked gene: SUN5 as ready
Infertility and Recurrent Pregnancy Loss v1.77 SUN5 Zornitza Stark Gene: sun5 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.77 Zornitza Stark Copied gene SUN5 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.77 SUN5 Zornitza Stark gene: SUN5 was added
gene: SUN5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUN5 were set to 34159570; 33671757; 27640305
Phenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related
Mendeliome v1.4189 SUN5 Zornitza Stark Marked gene: SUN5 as ready
Mendeliome v1.4189 SUN5 Zornitza Stark Gene: sun5 has been classified as Green List (High Evidence).
Mendeliome v1.4189 SUN5 Zornitza Stark Classified gene: SUN5 as Green List (high evidence)
Mendeliome v1.4189 SUN5 Zornitza Stark Gene: sun5 has been classified as Green List (High Evidence).
Mendeliome v1.4188 SUN5 Zornitza Stark gene: SUN5 was added
gene: SUN5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUN5 were set to 34159570; 33671757; 27640305
Phenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related
Review for gene: SUN5 was set to GREEN
Added comment: SUN5 encodes a testis‑specific SUN‑domain protein that anchors the sperm head to the tail. Multiple independent studies have identified biallelic loss‑of‑function SUN5 variants in >30 individuals with acephalic spermatozoa syndrome. Functional studies—including Western blot, immunofluorescence, Sun5 knockout mouse models, HeLa splicing assays, Y2H/GST pull‑down and proteasome‑inhibition rescue—demonstrate loss of SUN5 protein and disrupted head‑tail coupling, supporting loss‑of‑function as the disease mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.632 SPNS1 Zornitza Stark Marked gene: SPNS1 as ready
Intellectual disability syndromic and non-syndromic v1.632 SPNS1 Zornitza Stark Gene: spns1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.632 Zornitza Stark Copied gene SPNS1 from panel Lysosomal Storage Disorder
Intellectual disability syndromic and non-syndromic v1.632 SPNS1 Zornitza Stark gene: SPNS1 was added
gene: SPNS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS1 were set to 40608416; 38451736
Phenotypes for gene: SPNS1 were set to Lysosomal disorder, SPNS1-related, MONDO:0002561
Lysosomal Storage Disorder v1.27 SPNS1 Zornitza Stark Publications for gene: SPNS1 were set to 40608416
Lysosomal Storage Disorder v1.26 SPNS1 Zornitza Stark Classified gene: SPNS1 as Green List (high evidence)
Lysosomal Storage Disorder v1.26 SPNS1 Zornitza Stark Gene: spns1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.25 SPNS1 Zornitza Stark reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4187 SPNS1 Zornitza Stark Publications for gene: SPNS1 were set to 40608416
Mendeliome v1.4186 SPNS1 Zornitza Stark Classified gene: SPNS1 as Green List (high evidence)
Mendeliome v1.4186 SPNS1 Zornitza Stark Gene: spns1 has been classified as Green List (High Evidence).
Mendeliome v1.4185 SPNS1 Zornitza Stark reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v1.24 MTSS1L Zornitza Stark Marked gene: MTSS1L as ready
Congenital nystagmus v1.24 MTSS1L Zornitza Stark Gene: mtss1l has been classified as Green List (High Evidence).
Congenital nystagmus v1.24 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Congenital nystagmus v1.23 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.401 MTSS1L Zornitza Stark Tag new gene name tag was added to gene: MTSS1L.
Intellectual disability syndromic and non-syndromic v1.631 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Intellectual disability syndromic and non-syndromic v1.630 MTSS1L Zornitza Stark Tag new gene name tag was added to gene: MTSS1L.
Intellectual disability syndromic and non-syndromic v1.630 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.401 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766; 39890443; 40698928
Microcephaly v1.401 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Microcephaly v1.400 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4185 MTSS1L Zornitza Stark Tag new gene name tag was added to gene: MTSS1L.
Mendeliome v1.4185 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Mendeliome v1.4184 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4184 CSMD3 Zornitza Stark reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v1.361 CSMD3 Zornitza Stark reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.4184 KRT8 Bryony Thompson Mode of inheritance for gene: KRT8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.630 SF3B1 Zornitza Stark Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related
Intellectual disability syndromic and non-syndromic v1.629 SF3B1 Zornitza Stark Publications for gene: SF3B1 were set to
Intellectual disability syndromic and non-syndromic v1.628 SF3B1 Zornitza Stark reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4183 SF3B1 Zornitza Stark Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related
Mendeliome v1.4182 SF3B1 Zornitza Stark Publications for gene: SF3B1 were set to
Mendeliome v1.4181 SF3B1 Zornitza Stark reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 ZP3 Zornitza Stark Classified gene: ZP3 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 ZP3 Zornitza Stark Gene: zp3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 ZP3 Zornitza Stark changed review comment from: Presentations with POF reported, PMID 39485610.; to: Presentations with POF reported, PMID 39485610, upgrade to Green.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 ZP3 Zornitza Stark edited their review of gene: ZP3: Added comment: Presentations with POF reported, PMID 39485610.; Changed rating: GREEN; Changed publications: 28886344, 30810869, 39485610
Mendeliome v1.4181 TUBB1 Zornitza Stark changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present. Also note relatively high gnomAD counts for the reported variants, hence AMBER for association with hypothyroidism.
Mendeliome v1.4181 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Changed rating: AMBER
Congenital hypothyroidism v0.82 TUBB1 Zornitza Stark Classified gene: TUBB1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.82 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for mono-allelic. RED for bi-allelic.
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark Deleted their comment
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Changed rating: AMBER
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.
Mendeliome v1.4181 TUBB1 Zornitza Stark Phenotypes for gene: TUBB1 were changed from Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141 to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141; Hypothyroidism
Mendeliome v1.4180 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486
Mendeliome v1.4179 TUBB1 Zornitza Stark changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.
Mendeliome v1.4179 TUBB1 Zornitza Stark Deleted their comment
Mendeliome v1.4179 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Added comment: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; Changed publications: 30446499, 31642429, 40071799; Changed phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141, Hypothyroidism
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to 30446499; 31642429
Congenital hypothyroidism v0.80 TUBB1 Zornitza Stark Mode of inheritance for gene: TUBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.79 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Added comment: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; Changed rating: GREEN; Changed publications: 40071799; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v1.36 STAR Zornitza Stark changed review comment from: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype.; to: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype. All had variants at same position, c.65-2A. LIMITED evidence for this MOI.
Mendeliome v1.4179 SAG Zornitza Stark changed review comment from: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.

Association with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; to: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.

Association with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.

Associations with RP are AMBER due to the recurrent nature of the variants.
Mendeliome v1.4179 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, MIM# 613758 to Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228
Mendeliome v1.4178 SAG Zornitza Stark Publications for gene: SAG were set to 7670478; 9565049; 15234147; 28549094; 33047631
Mendeliome v1.4177 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4176 SAG Zornitza Stark edited their review of gene: SAG: Added comment: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.

Association with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 7670478, 9565049, 15234147, 28549094, 33047631, 9565049, 31257036; Changed phenotypes: Oguchi disease-1, MIM# 258100, Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.238 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Retinitis pigmentosa 47, MIM# 613758 to Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228
Retinitis pigmentosa v0.237 SAG Zornitza Stark Publications for gene: SAG were set to 28549094; 33047631
Retinitis pigmentosa v0.236 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.235 SAG Zornitza Stark changed review comment from: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.; to: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.
Retinitis pigmentosa v0.235 SAG Zornitza Stark edited their review of gene: SAG: Added comment: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 28549094, 33047631, 9565049, 31257036]; Changed phenotypes: Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.235 SAG Zornitza Stark edited their review of gene: SAG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4176 RNF213 Zornitza Stark changed review comment from: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).; to: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).

RED for this MOI/association.
Mendeliome v1.4176 RNF213 Zornitza Stark reviewed gene: RNF213: Rating: RED; Mode of pathogenicity: None; Publications: 28962888; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.52 RNF213 Zornitza Stark Marked gene: RNF213 as ready
Pulmonary Arterial Hypertension v1.52 RNF213 Zornitza Stark Gene: rnf213 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.52 RNF213 Zornitza Stark Phenotypes for gene: RNF213 were changed from to Moyamoya disease, MONDO:0016820
Pulmonary Arterial Hypertension v1.51 RNF213 Zornitza Stark edited their review of gene: RNF213: Changed phenotypes: Moyamoya disease, MONDO:0016820
Pulmonary Arterial Hypertension v1.51 RNF213 Zornitza Stark gene: RNF213 was added
gene: RNF213 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: RNF213 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF213 were set to 28962888
Review for gene: RNF213 was set to RED
Added comment: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).
Sources: Literature
Incidentalome v0.395 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Incidentalome v0.395 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Incidentalome v0.395 PSEN1 Zornitza Stark Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3 (MONDO:0011913; MIM#607822)
Incidentalome v0.394 PSEN1 Zornitza Stark Publications for gene: PSEN1 were set to 20301340; 7596406; 16033913
Incidentalome v0.393 PSEN1 Zornitza Stark Publications for gene: PSEN1 were set to
Incidentalome v0.392 PSEN1 Zornitza Stark Mode of inheritance for gene: PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.391 PSEN1 Zornitza Stark Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.317 OTOG Zornitza Stark Publications for gene: OTOG were set to 29800624; 23122587
Deafness_IsolatedAndComplex v1.316 OTOG Zornitza Stark reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139988, 31645975, 32048449, 32244554, 32860223, 34118384, 35248088, 38894825, 39858607, 40389292, 40565546, 33136635, 38519595, 40565546; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4176 OTOG Zornitza Stark Publications for gene: OTOG were set to 29800624; 23122587
Mendeliome v1.4175 OTOG Zornitza Stark reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139988, 31645975, 32048449, 32244554, 32860223, 34118384, 35248088, 38894825, 39858607, 40389292, 40565546, 33136635, 38519595, 40565546; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal