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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
Mendeliome v1.4175 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, MIM# 251850; Cholestasis to Microvillus inclusion disease, MIM# 251850; Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Mendeliome v1.4174 MYO5B Zornitza Stark Publications for gene: MYO5B were set to 30564347; 29266534; 28027573; 27532546
Mendeliome v1.4173 MYO5B Zornitza Stark edited their review of gene: MYO5B: Added comment: PMID 33525641 summarises data on 114 individuals with bi-allelic variants in MYO5B: (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED).; Changed publications: 30564347, 29266534, 28027573, 27532546, 33525641; Changed phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Cholestasis v1.8 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Cholestasis; Microvillus inclusion disease, MIM#251850 to Microvillus inclusion disease, MIM#251850; Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Cholestasis v1.7 MYO5B Zornitza Stark Publications for gene: MYO5B were set to 28027573; 27532546
Cholestasis v1.6 MYO5B Zornitza Stark edited their review of gene: MYO5B: Added comment: PMID 33525641 summarises data on 114 individuals with bi-allelic variants in MYO5B: (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED).; Changed publications: 28027573, 27532546, 33525641
Cholestasis v1.6 MYO5B Zornitza Stark edited their review of gene: MYO5B: Changed phenotypes: Microvillus inclusion disease, MIM#251850, Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Incidentalome v0.390 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Incidentalome v0.390 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Incidentalome v0.390 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from to Schwannomatosis-2, susceptibility to MIM#615670; Noonan syndrome 10 MIM# 616564; Noonan syndrome 2, MIM# 605275
Incidentalome v0.389 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.388 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.387 LZTR1 Zornitza Stark reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwannomatosis-2, susceptibility to MIM#615670, Noonan syndrome 10 MIM# 616564, Noonan syndrome 2, MIM# 605275; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.76 HSPB1 Zornitza Stark Publications for gene: HSPB1 were set to 21785432; 15122254; 18832141; 32639100; 32334137
Hereditary Neuropathy_CMT - isolated v1.75 HSPB1 Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.74 HSPB1 Zornitza Stark Phenotypes for gene: HSPB1 were changed from Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080 to Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687
Hereditary Neuropathy_CMT - isolated v1.73 HSPB1 Zornitza Stark changed review comment from: Multiple families reported, functional data. Different patterns of neuropathy described.; to: Multiple families reported, functional data. Different patterns of neuropathy described. ClinGen have lumped the 2 OMIMs under Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687
Hereditary Neuropathy_CMT - isolated v1.73 HSPB1 Zornitza Stark edited their review of gene: HSPB1: Added comment: PMID 33943041: two unrelated individuals with homozygous missense variants, p.S135F and p.R136L, and CMT. Both variants already reported as pathogenic in the heterozygous state. Third compound het individual reported in 35328016.; Changed publications: 21785432, 15122254, 18832141, 32639100, 32334137, 33943041, 35328016; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4173 HSPB1 Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4172 HSPB1 Zornitza Stark changed review comment from: Multiple families reported, functional data. Different patterns of neuropathy described.; to: Multiple AD families reported, functional data. Different patterns of neuropathy described.
Mendeliome v1.4172 HSPB1 Zornitza Stark edited their review of gene: HSPB1: Added comment: PMID 33943041: two unrelated individuals with homozygous missense variants, p.S135F and p.R136L, and CMT. Both variants already reported as pathogenic in the heterozygous state. Third compound het individual reported in 35328016.; Changed publications: 21785432, 15122254, 18832141, 32639100, 32334137, 33943041, 35328016; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4172 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810 to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Vascular malformation, MONDO:0024291, GPAA1-relatedVascular malformation, MONDO:0024291, GPAA1-related
Vascular Malformations_Germline v1.13 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from Vascular anomalies to Vascular malformation, MONDO:0024291, GPAA1-related
Vascular Malformations_Germline v1.12 GPAA1 Zornitza Stark reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vascular malformation, MONDO:0024291, GPAA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4171 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to 29100095
Mendeliome v1.4170 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4169 GPAA1 Zornitza Stark changed review comment from: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; to: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.

AMBER for this MOI.
Mendeliome v1.4169 GPAA1 Zornitza Stark edited their review of gene: GPAA1: Changed phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810, Vascular malformation, MONDO:0024291, GPAA1-related
Mendeliome v1.4169 GPAA1 Zornitza Stark edited their review of gene: GPAA1: Added comment: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; Changed publications: 29100095, 32533362; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4169 FLI1 Zornitza Stark Publications for gene: FLI1 were set to 10891501; 10981960; 24100448; 28255014; 26316623
Mendeliome v1.4168 FLI1 Zornitza Stark Mode of inheritance for gene: FLI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4167 FLI1 Zornitza Stark reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24100448, 28255014, 26316623, 26494917; Phenotypes: Bleeding disorder, platelet-type, 21, MIM# 617443; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.72 F12 Zornitza Stark Marked gene: F12 as ready
Bleeding and Platelet Disorders v1.72 F12 Zornitza Stark Gene: f12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.72 F12 Zornitza Stark Phenotypes for gene: F12 were changed from Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000
Bleeding and Platelet Disorders v1.71 F12 Zornitza Stark Publications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767
Bleeding and Platelet Disorders v1.70 F12 Zornitza Stark Mode of inheritance for gene: F12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.69 Zornitza Stark Copied gene F12 from panel Mendeliome
Bleeding and Platelet Disorders v1.69 F12 Zornitza Stark gene: F12 was added
gene: F12 was added to Bleeding and Platelet Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767
Phenotypes for gene: F12 were set to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526
Mode of pathogenicity for gene: F12 was set to Other
Mendeliome v1.4167 F12 Zornitza Stark Phenotypes for gene: F12 were changed from Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526
Mendeliome v1.4166 F12 Zornitza Stark Publications for gene: F12 were set to 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767
Mendeliome v1.4165 F12 Zornitza Stark Mode of inheritance for gene: F12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4164 F12 Zornitza Stark reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528215, 10361128; Phenotypes: Factor XII deficiency, MIM# 234000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.361 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Genetic Epilepsy v1.361 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Fetal anomalies v1.520 VPS51 Zornitza Stark Publications for gene: VPS51 were set to PMID: 30624672; 31207318
Genetic Epilepsy v1.361 Zornitza Stark Copied gene VPS51 from panel Mendeliome
Genetic Epilepsy v1.361 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 40565173; 30624672; 31207318; 40176246
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Fetal anomalies v1.519 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Fetal anomalies v1.519 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Fetal anomalies v1.518 VPS51 Zornitza Stark reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: None; Publications: 40176246, 40565173; Phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v1.628 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Intellectual disability syndromic and non-syndromic v1.627 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.627 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.626 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246, 40565173; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Microcephaly v1.400 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Microcephaly v1.399 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Microcephaly v1.399 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Microcephaly v1.398 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Cerebellar and Pontocerebellar Hypoplasia v1.98 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Cerebellar and Pontocerebellar Hypoplasia v1.97 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.97 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.96 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Mendeliome v1.4164 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Mendeliome v1.4163 VPS51 Zornitza Stark edited their review of gene: VPS51: Changed publications: 40565173, 30624672, 31207318, 40176246
Mendeliome v1.4163 VPS51 Zornitza Stark edited their review of gene: VPS51: Changed publications: 40565173
Mendeliome v1.4163 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Mendeliome v1.4163 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Mendeliome v1.4162 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Hereditary Spastic Paraplegia v1.139 SPTSSA Zornitza Stark Publications for gene: SPTSSA were set to 36718090
Hereditary Spastic Paraplegia v1.138 SPTSSA Zornitza Stark edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.; Changed publications: 40533086
Mendeliome v1.4162 SPTSSA Zornitza Stark Publications for gene: SPTSSA were set to 36718090
Mendeliome v1.4161 SPTSSA Zornitza Stark changed review comment from: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; to: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.
Mendeliome v1.4161 SPTSSA Zornitza Stark edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; Changed publications: 40533086
Fetal anomalies v1.518 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Fetal anomalies v1.517 MYL1 Zornitza Stark Classified gene: MYL1 as Green List (high evidence)
Fetal anomalies v1.517 MYL1 Zornitza Stark Gene: myl1 has been classified as Green List (High Evidence).
Fetal anomalies v1.516 MYL1 Zornitza Stark edited their review of gene: MYL1: Added comment: PMID 40488356 reports 4 individuals from 4 unrelated families with biallelic loss‑of‑function MYL1 variants (nonsense, frameshift, splice‑site, missense) presenting with severe congenital myopathy: antenatal/polyhydramnios, early hypotonia, respiratory insufficiency requiring ventilation, feeding difficulties, skeletal fractures, and a distinctive floret‑like pattern of small fast‑twitch fibres on muscle biopsy.; Changed rating: GREEN; Changed publications: 30215711, 40488356
Muscular dystrophy and myopathy_Paediatric v1.120 MYL1 Zornitza Stark Phenotypes for gene: MYL1 were changed from Congenital Myopathy 14 (MIM#618414) to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414
Muscular dystrophy and myopathy_Paediatric v1.119 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Muscular dystrophy and myopathy_Paediatric v1.118 MYL1 Zornitza Stark Classified gene: MYL1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.118 MYL1 Zornitza Stark Gene: myl1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.117 MYL1 Zornitza Stark reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4161 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Mendeliome v1.4160 MYL1 Zornitza Stark Classified gene: MYL1 as Green List (high evidence)
Mendeliome v1.4160 MYL1 Zornitza Stark Gene: myl1 has been classified as Green List (High Evidence).
Mendeliome v1.4159 MYL1 Zornitza Stark reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.140 IL6R Zornitza Stark Publications for gene: IL6R were set to 31235509
Combined Immunodeficiency v1.139 IL6R Zornitza Stark Classified gene: IL6R as Green List (high evidence)
Combined Immunodeficiency v1.139 IL6R Zornitza Stark Gene: il6r has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.138 IL6R Zornitza Stark edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids.

PMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed rating: GREEN; Changed publications: 31235509, 39277818, 40536180
Mendeliome v1.4159 IL6R Zornitza Stark Publications for gene: IL6R were set to 31235509
Mendeliome v1.4158 IL6R Zornitza Stark Classified gene: IL6R as Green List (high evidence)
Mendeliome v1.4158 IL6R Zornitza Stark Gene: il6r has been classified as Green List (High Evidence).
Mendeliome v1.4157 IL6R Zornitza Stark edited their review of gene: IL6R: Changed rating: GREEN
Mendeliome v1.4157 IL6R Zornitza Stark edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids.

PMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed publications: 31235509, 39277818, 40536180
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Pituitary hormone deficiency v0.171 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Hypogonadotropic hypogonadism v0.79 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Differences of Sex Development v1.36 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Mendeliome v1.4157 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Hereditary Spastic Paraplegia v1.138 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055
Hereditary Spastic Paraplegia v1.137 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Hereditary Spastic Paraplegia v1.137 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.136 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

PMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651, congenital neurodevelopmental syndrome, spastic paraplegia, multiple contractures, profound developmental delay, epilepsy, failure to thrive
Intellectual disability syndromic and non-syndromic v1.626 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055; 40508110
Intellectual disability syndromic and non-syndromic v1.625 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.625 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.624 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Genetic Epilepsy v1.360 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Genetic Epilepsy v1.360 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.359 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Microcephaly v1.398 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055; 40508110
Microcephaly v1.397 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Microcephaly v1.397 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Microcephaly v1.396 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Arthrogryposis v1.14 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055; 40508110
Arthrogryposis v1.13 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Arthrogryposis v1.13 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Arthrogryposis v1.12 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Mendeliome v1.4157 SEC31A Zornitza Stark Publications for gene: SEC31A were set to PMID: 30464055; 40508110
Mendeliome v1.4156 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Mendeliome v1.4156 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Mendeliome v1.4155 SEC31A Zornitza Stark commented on gene: SEC31A: Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.
Mendeliome v1.4155 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Fetal anomalies v1.516 HEY2 Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence)
Fetal anomalies v1.516 HEY2 Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.515 HEY2 Zornitza Stark reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40481234; Phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4155 HEY2 Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence)
Mendeliome v1.4155 HEY2 Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4154 HEY2 Zornitza Stark edited their review of gene: HEY2: Changed rating: AMBER
Congenital Heart Defect v0.522 HEY2 Zornitza Stark edited their review of gene: HEY2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital Heart Defect v0.522 HEY2 Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence)
Congenital Heart Defect v0.522 HEY2 Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.521 HEY2 Zornitza Stark edited their review of gene: HEY2: Added comment: PMID 32820247 reports a homozygous loss‑of‑function p.G108* in a Dutch isolate (3 homozygotes, 20 heterozygotes) causing severe congenital heart defects (CHD) and familial thoracic aortic aneurysm/dissection (FTAAD); functional luciferase, Western‑blot and qPCR assays show altered repression. Homozygotes (n = 3) had life-threatening congenital heart defects, while 80% of heterozygous carriers (n = 20) had cardiovascular defects, mainly CHD and FTAA of the ascending aorta.; Changed rating: AMBER; Changed publications: 40481234, 32820247
Intellectual disability syndromic and non-syndromic v1.624 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Developmental and epileptic encephalopathy 121, MIM# 621475
Intellectual disability syndromic and non-syndromic v1.623 LGI1 Zornitza Stark reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.359 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475
Genetic Epilepsy v1.358 LGI1 Zornitza Stark edited their review of gene: LGI1: Changed phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512, Developmental and epileptic encephalopathy 121, MIM# 621475; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4154 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475
Mendeliome v1.4153 LGI1 Zornitza Stark reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.36 PLXNA1 Lucy Spencer Classified gene: PLXNA1 as Amber List (moderate evidence)
Differences of Sex Development v1.36 PLXNA1 Lucy Spencer Gene: plxna1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v1.35 PLXNA1 Lucy Spencer gene: PLXNA1 was added
gene: PLXNA1 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: PLXNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLXNA1 were set to 28334861; 30467832; 34636164
Phenotypes for gene: PLXNA1 were set to Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Review for gene: PLXNA1 was set to AMBER
Added comment: reported phenotype expansion for monoallelic Kallman syndrome:
PMIDs 28334861 13 families with Kallman syndrome, however only 3 of these variants (His684Tyr Lys1618Thr Cys1744Phe) are absent from gnomad, the rest have at least 6 hets and most have over 20 hets. in transfected cells His684Tyr, Lys1618Thr and some of the common missense variants were shown to result in reduced total amounts of protein. In a minigene assay Cys1744Phe which is at the last base of an exon was shown to cause intron 28 retention which would be out of frame. No variants in this study were noted to be de novo.

PMID: 30467832 10 missense variants identified in patients with hypogonadotropic hypogonadism. Again some of the reported missense have over 20 hets in gnomad but 5 of the variants are rare or absent Lys1451Arg, Ser1850Arg, Ile1701Val, Pro485Leu and Val536Ile. All of these variants were either inherited from a parent or inheritance was unknown, and 1 individual had a better diagnosis with a nonsense in FGFR1 while other patients had variants in other genes amber for HH. No variants in this study were noted to be de novo.

PMID: 34636164 another 10 missense variants identified in 11 families with hypogonadotropic hypogonadism. However, only 3 were not common in gnomad; Pro848Arg, Ala1106Val, and Ser1709Leu. Ala1106Val and Ser1709Leu were both inherited from unaffected mothers, and most patients in this study also had variants of interest in other genes. No variants in this study were noted to be de novo.

So at least 10 reports of variants that are rare/absent in gnomad with Kallman syndrome, all missense variants, most without segregation information or inherited from unaffected/unknown if affected parents. Some with a bit of functional work. Many patients also have variants of interest in other genes amber or green for the same phenotype. borderline amber/green
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.623 Sarah Milton Copied Region ISCA-46296-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.623 ISCA-46296-Loss Sarah Milton Region: ISCA-46296-Loss was added
Region: ISCA-46296-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46296-Loss were set to PMID: 25217958
Common deletion and duplication syndromes v0.150 ISCA-46296-Loss Sarah Milton Region: ISCA-46296-Loss was added
Region: ISCA-46296-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46296-Loss were set to PMID: 25217958
Added comment: HI3 deletion defined by Clingen, characteristic features include dev delay, ID, seizures, ASD

Slightly small del than ISCA 37396
Sources: ClinGen
Mendeliome v1.4153 PLXNA1 Lucy Spencer changed review comment from: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic; to: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association

The monoallelic assertion for a neurodevelopmental disorder in this gene is now RED, still GREEN for biallelic
Mendeliome v1.4153 PLXNA1 Lucy Spencer edited their review of gene: PLXNA1: Changed publications: 34054129, 28464511, 28334861, 30467832, 34636164; Changed phenotypes: Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955, Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4153 PLXNA1 Lucy Spencer Publications for gene: PLXNA1 were set to 34054129; 28464511
Mendeliome v1.4152 PLXNA1 Lucy Spencer Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955; Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Mendeliome v1.4151 PLXNA1 Lucy Spencer Mode of inheritance for gene: PLXNA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4150 PLXNA1 Lucy Spencer edited their review of gene: PLXNA1: Added comment: reported phenotype expansion for monoallelic Kallman syndrome:
PMIDs 28334861 13 families with Kallman syndrome, however only 3 of these variants (His684Tyr Lys1618Thr Cys1744Phe) are absent from gnomad, the rest have at least 6 hets and most have over 20 hets. in transfected cells His684Tyr, Lys1618Thr and some of the common missense variants were shown to result in reduced total amounts of protein. In a minigene assay Cys1744Phe which is at the last base of an exon was shown to cause intron 28 retention which would be out of frame. No variants in this study were noted to be de novo.

PMID: 30467832 10 missense variants identified in patients with hypogonadotropic hypogonadism. Again some of the reported missense have over 20 hets in gnomad but 5 of the variants are rare or absent Lys1451Arg, Ser1850Arg, Ile1701Val, Pro485Leu and Val536Ile. All of these variants were either inherited from a parent or inheritance was unknown, and 1 individual had a better diagnosis with a nonsense in FGFR1 while other patients had variants in other genes amber for HH. No variants in this study were noted to be de novo.

PMID: 34636164 another 10 missense variants identified in 11 families with hypogonadotropic hypogonadism. However, only 3 were not common in gnomad; Pro848Arg, Ala1106Val, and Ser1709Leu. Ala1106Val and Ser1709Leu were both inherited from unaffected mothers, and most patients in this study also had variants of interest in other genes. No variants in this study were noted to be de novo.

So at least 10 reports of variants that are rare/absent in gnomad with Kallman syndrome, all missense variants, most without segregation information or inherited from unaffected/unknown if affected parents. Some with a bit of functional work. Many patients also have variants of interest in other genes amber or green for the same phenotype. borderline amber/green; Changed rating: AMBER; Changed phenotypes: Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Mendeliome v1.4150 LINGO4 Lucy Spencer Publications for gene: LINGO4 were set to PMID: 33098801
Mendeliome v1.4149 LINGO4 Lucy Spencer Phenotypes for gene: LINGO4 were changed from Developmental Delay, Intellectual disability, speech disorder to Neurodevelopmental disorder (MONDO:0700092), LINGO4-related
Mendeliome v1.4148 SRP72 Lucy Spencer edited their review of gene: SRP72: Changed publications: 40922878, 37176611, 41472573, 40510848, 41142505
Mendeliome v1.4148 SRP72 Lucy Spencer changed review comment from: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad).

PMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.

PMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad

PMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype.

Only 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green; to: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad).

PMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.

PMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad

PMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype.

Only 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green
Mendeliome v1.4148 SRP72 Lucy Spencer Publications for gene: SRP72 were set to 22541560; 31254415; 40922878; 3717661; 41472573; 40510848; 41142505
Mendeliome v1.4147 SRP72 Lucy Spencer Publications for gene: SRP72 were set to 22541560; 31254415; 40922878
Mendeliome v1.4146 SRP72 Lucy Spencer edited their review of gene: SRP72: Added comment: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad).

PMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.

PMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad

PMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype.

Only 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green; Changed publications: 40922878, 3717661, 41472573, 40510848, 41142505
Intellectual disability syndromic and non-syndromic v1.622 Sarah Milton Copied gene LAGE3 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.622 LAGE3 Sarah Milton gene: LAGE3 was added
gene: LAGE3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, MIM# 301006
Infertility and Recurrent Pregnancy Loss v1.76 ZNF185 Lucy Spencer gene: ZNF185 was added
gene: ZNF185 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ZNF185 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: ZNF185 were set to 39267058
Phenotypes for gene: ZNF185 were set to Azoospermia MONDO:0100459, ZNF185-related
Review for gene: ZNF185 was set to RED
Added comment: PMID 39267058 reports three unrelated individuals with autosomal recessive primary male infertility (all 3 had non-obstructive azoospermia). All 3 were hemizygous for different missense variants, one of which has 28 hemis and 38 hets in gnomad v4, and another has 6 hemis and 4 hets in gnomad v4. No functional or segregation evidence was provided to support the pathogenicity of these variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.621 ZNF185 Lucy Spencer gene: ZNF185 was added
gene: ZNF185 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZNF185 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: ZNF185 were set to 41404552
Phenotypes for gene: ZNF185 were set to Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Review for gene: ZNF185 was set to RED
Added comment: PMID 41404552 describes a single female individual with cerebro oculo nasal syndrome and a de novo heterozygous X linked frameshift ZNF185. The proband presented with developmental delay, moderate ID, dysmorphic facial features, cleft lip/palate, nasal anomaly, CHD and anopthalmia. She was shown to have skewed X-inactivation 19:81, however it is not stated if the skewing was towards the allele with the variant. The variant in this individual (p.Gln102SerfsTer18) is NMD predicted and absent from gnomad, however there are at least 6 NMD variants present in gnomad as hemizygous (4 with over 4 hemis) all of which also have over 5 heterozygotes
Sources: Literature
Mendeliome v1.4146 ZNF185 Lucy Spencer edited their review of gene: ZNF185: Changed publications: 41404552, 39267058; Changed phenotypes: Azoospermia MONDO:0100459, ZNF185-related, Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Mendeliome v1.4146 ZNF185 Lucy Spencer Publications for gene: ZNF185 were set to 39267058
Mendeliome v1.4145 ZNF185 Lucy Spencer Phenotypes for gene: ZNF185 were changed from Azoospermia MONDO:0100459, ZNF185-related to Azoospermia MONDO:0100459, ZNF185-related; Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Mendeliome v1.4144 ZNF185 Lucy Spencer edited their review of gene: ZNF185: Added comment: PMID 41404552 describes a single female individual with cerebro‑oculo‑nasal syndrome and a de novo heterozygous X‑linked frameshift ZNF185. The proband presented with developmental delay, moderate ID, dysmorphic facial features, cleft lip/palate, nasal anomaly, CHD and anopthalmia. She was shown to have skewed X-inactivation 19:81, however it is not stated if the skewing was towards the allele with the variant. The variant in this individual (p.Gln102SerfsTer18) is NMD predicted and absent from gnomad, however there are at least 6 NMD variants present in gnomad as hemizygous (4 with over 4 hemis) all of which also have over 5 heterozygotes.; Changed publications: 41404552; Changed phenotypes: Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Mendeliome v1.4144 ZNF185 Lucy Spencer gene: ZNF185 was added
gene: ZNF185 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF185 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: ZNF185 were set to 39267058
Phenotypes for gene: ZNF185 were set to Azoospermia MONDO:0100459, ZNF185-related
Review for gene: ZNF185 was set to RED
Added comment: PMID 39267058 reports three unrelated individuals with autosomal recessive primary male infertility (all 3 had non-obstructive azoospermia). All 3 were hemizygous for different missense variants, one of which has 28 hemis and 38 hets in gnomad v4, and another has 6 hemis and 4 hets in gnomad v4. No functional or segregation evidence was provided to support the pathogenicity of these variants.
Sources: Literature
Mendeliome v1.4143 NLRP7 Zornitza Stark edited their review of gene: NLRP7: Changed rating: GREEN
Mendeliome v1.4143 NLRP7 Zornitza Stark changed review comment from: Two individuals reported with this phenotype and mono-allelic variants.; to: Five individuals reported with this phenotype and mono-allelic variants.
Mendeliome v1.4143 NLRP7 Zornitza Stark Phenotypes for gene: NLRP7 were changed from Hydatidiform mole, recurrent, 1 - MIM#231090 to Hydatidiform mole, recurrent, 1 - MIM#231090; Oocyte/zygote/embryo maturation arrest 25, MIM# 621471
Mendeliome v1.4142 NLRP7 Zornitza Stark Publications for gene: NLRP7 were set to 23201303; 23125094; 25097207; 26606510; 19650864; 23880596; 22770628; 26544189; 28428943; 21623199; 21439709; 33583041; 32055942; 19246479; 19066229; 34189227
Mendeliome v1.4141 NLRP7 Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4140 NLRP7 Zornitza Stark Classified gene: NLRP7 as Green List (high evidence)
Mendeliome v1.4140 NLRP7 Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence).
Mendeliome v1.4139 NLRP7 Zornitza Stark reviewed gene: NLRP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 37148315; Phenotypes: Oocyte/zygote/embryo maturation arrest 25, MIM# 621471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4139 IMPG1 Bryony Thompson Mode of inheritance for gene: IMPG1 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 v1.4138 IGF1 Bryony Thompson Mode of inheritance for gene: IGF1 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 v1.4137 PCBP1 Zornitza Stark Marked gene: PCBP1 as ready
Mendeliome v1.4137 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Mendeliome v1.4137 PCBP1 Zornitza Stark Classified gene: PCBP1 as Green List (high evidence)
Mendeliome v1.4137 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Marked gene: PCBP1 as ready
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Classified gene: PCBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Marked gene: UNC13C as ready
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Classified gene: UNC13C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4136 UNC13C Zornitza Stark Marked gene: UNC13C as ready
Mendeliome v1.4136 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4136 UNC13C Zornitza Stark Classified gene: UNC13C as Amber List (moderate evidence)
Mendeliome v1.4136 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Autism v0.241 UNC13C Zornitza Stark Marked gene: UNC13C as ready
Autism v0.241 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Autism v0.241 UNC13C Zornitza Stark Classified gene: UNC13C as Amber List (moderate evidence)
Autism v0.241 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4135 OSR2 Zornitza Stark Marked gene: OSR2 as ready
Mendeliome v1.4135 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Mendeliome v1.4135 OSR2 Zornitza Stark Phenotypes for gene: OSR2 were changed from MONDO:0005497 to Skeletal dysplasia, MONDO:0018230, OSR2-related
Mendeliome v1.4134 OSR2 Zornitza Stark Classified gene: OSR2 as Green List (high evidence)
Mendeliome v1.4134 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Mendeliome v1.4133 OSR2 Zornitza Stark reviewed gene: OSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, OSR2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.401 OSR2 Zornitza Stark Marked gene: OSR2 as ready
Skeletal dysplasia v0.401 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.401 OSR2 Zornitza Stark Phenotypes for gene: OSR2 were changed from MONDO:0005497 to Skeletal dysplasia, MONDO:0018230, OSR2-related
Skeletal dysplasia v0.400 OSR2 Zornitza Stark Classified gene: OSR2 as Green List (high evidence)
Skeletal dysplasia v0.400 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.399 OSR2 Zornitza Stark reviewed gene: OSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, OSR2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark Marked gene: GSPT2 as ready
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.358 Zornitza Stark Copied gene GSPT2 from panel Fetal anomalies
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark gene: GSPT2 was added
gene: GSPT2 was added to Genetic Epilepsy. Sources: Expert Review Green,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GSPT2 were set to 28414775; 41420488
Phenotypes for gene: GSPT2 were set to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Fetal anomalies v1.515 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Fetal anomalies v1.514 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
Fetal anomalies v1.513 GSPT2 Zornitza Stark Classified gene: GSPT2 as Green List (high evidence)
Fetal anomalies v1.513 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Fetal anomalies v1.512 GSPT2 Zornitza Stark edited their review of gene: GSPT2: Added comment: PMID 41420488: Six unrelated males reported with hemizygosity for variants in GSTP2 and neurodevelopmental disorder including intellectual disability, language impairment, autism, motor impairment, epilepsy, or abnormal fetal brain development. Variants were reported to be inherited from unaffected mothers. Functional evidence did support deleterious effects of the variants and gene knock-out.; Changed rating: GREEN; Changed publications: 28414775, 41420488; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Intellectual disability syndromic and non-syndromic v1.618 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Intellectual disability syndromic and non-syndromic v1.617 GSPT2 Zornitza Stark Classified gene: GSPT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.617 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.616 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
Intellectual disability syndromic and non-syndromic v1.615 GSPT2 Zornitza Stark edited their review of gene: GSPT2: Added comment: PMID 41420488: Six unrelated males reported with hemizygosity for variants in GSTP2 and neurodevelopmental disorder including intellectual disability, language impairment, autism, motor impairment, epilepsy, or abnormal fetal brain development. Variants were reported to be inherited from unaffected mothers. Functional evidence did support deleterious effects of the variants and gene knock-out.; Changed rating: GREEN; Changed publications: 28414775, 41420488; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Mendeliome v1.4133 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Mendeliome v1.4132 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
Mendeliome v1.4131 GSPT2 Zornitza Stark Classified gene: GSPT2 as Green List (high evidence)
Mendeliome v1.4131 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Differences of Sex Development v1.34 CCDC149 Zornitza Stark Marked gene: CCDC149 as ready
Differences of Sex Development v1.34 CCDC149 Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence).
Differences of Sex Development v1.34 Zornitza Stark Copied gene CCDC149 from panel Mendeliome
Differences of Sex Development v1.34 CCDC149 Zornitza Stark gene: CCDC149 was added
gene: CCDC149 was added to Differences of Sex Development. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC149 were set to 40459248
Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related
Mendeliome v1.4130 CCDC149 Zornitza Stark Marked gene: CCDC149 as ready
Mendeliome v1.4130 CCDC149 Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence).
Mendeliome v1.4130 CCDC149 Zornitza Stark gene: CCDC149 was added
gene: CCDC149 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC149 were set to 40459248
Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related
Review for gene: CCDC149 was set to RED
Added comment: PMID 40459248 reports a single 8‑year‑old boy from a consanguineous family with bilateral cryptorchidism due to a homozygous nonsense CCDC149 variant (c.448C>T, p.Gln150Ter), biparental inheritance. Ccdc149 knockout mice recapitulate undescended testes and sperm abnormalities, supporting loss‑of‑function as the disease mechanism.
Sources: Literature
Mendeliome v1.4129 TFCP2L1 Zornitza Stark Phenotypes for gene: TFCP2L1 were changed from CAKUT, MONDO:0019719, TFGP2L1-related to Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Mendeliome v1.4128 TFCP2L1 Zornitza Stark edited their review of gene: TFCP2L1: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Renal Tubulopathies and related disorders v1.25 TFCP2L1 Zornitza Stark Phenotypes for gene: TFCP2L1 were changed from CAKUT, MONDO:0019719, TFGP2L1-related to Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Renal Tubulopathies and related disorders v1.24 TFCP2L1 Zornitza Stark edited their review of gene: TFCP2L1: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Mendeliome v1.4128 GDF2 Bryony Thompson Mode of inheritance for gene: GDF2 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 v1.4127 LIPC Bryony Thompson Mode of inheritance for gene: LIPC 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 v1.4126 LIM2 Bryony Thompson Mode of inheritance for gene: LIM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4125 LIM2 Bryony Thompson Mode of inheritance for gene: LIM2 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 v1.4124 SCN10A Chirag Patel changed review comment from: Comment on mode of pathogenicity: AD - GOF
AR - LOF; to: Episodic pain syndrome, familial, 2 MIM#615551 - AD - GOF (green)
Neurodevelopmental disorder (MONDO#0700092), SCN10A-related - AR - LOF (amber)
Mendeliome v1.4124 SCN10A Chirag Patel Deleted their comment
Mendeliome v1.4124 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from s) Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Mendeliome v1.4123 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2, MIM# 615551 to s) Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Mendeliome v1.4122 SCN10A Chirag Patel Publications for gene: SCN10A were set to 23115331; 33775738; 30731422; 30554136
Mendeliome v1.4121 SCN10A Chirag Patel Mode of inheritance for gene: SCN10A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4120 SCN10A Chirag Patel Added comment: Comment on mode of pathogenicity: AD - GOF
AR - LOF
Mendeliome v1.4120 SCN10A Chirag Patel Mode of pathogenicity for gene: SCN10A was changed from to Other
Mendeliome v1.4119 Chirag Patel Added reviews for gene SCN10A from panel Genetic Epilepsy
Genetic Epilepsy v1.357 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.357 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.357 SCN10A Chirag Patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.357 SCN10A Chirag Patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.356 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.356 SCN10A Chirag Patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.356 SCN10A Chirag Patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.356 SCN10A Chirag Patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.356 SCN10A Chirag Patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.355 SCN10A Chirag Patel reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Movement Disorders Superpanel v3.180 Bryony Thompson Panel name changed from Tremors_Superpanel to Movement Disorders Superpanel
Changed child panels to: Early-onset Parkinson disease; Brain Channelopathies; Dystonia and Chorea; Paroxysmal Dyskinesia
Mendeliome v1.4118 Bryony Thompson Copied gene GPR88 from panel Dystonia and Chorea
Mendeliome v1.4118 GPR88 Bryony Thompson gene: GPR88 was added
gene: GPR88 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPR88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR88 were set to 27123486
Phenotypes for gene: GPR88 were set to chorea, childhood-onset, with psychomotor retardation MONDO:0014839
Dystonia and Chorea v0.335 GPR88 Bryony Thompson Marked gene: GPR88 as ready
Dystonia and Chorea v0.335 GPR88 Bryony Thompson Gene: gpr88 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.335 GPR88 Bryony Thompson gene: GPR88 was added
gene: GPR88 was added to Dystonia and Chorea. Sources: Literature
Mode of inheritance for gene: GPR88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR88 were set to 27123486
Phenotypes for gene: GPR88 were set to chorea, childhood-onset, with psychomotor retardation MONDO:0014839
Review for gene: GPR88 was set to RED
Added comment: Single consanguineous Palestinian family reported with a homozygous stopgain variant (c.873C>A, p.Cys291*)
Sources: Literature
Dystonia and Chorea v0.334 PRNP Bryony Thompson Marked gene: PRNP as ready
Dystonia and Chorea v0.334 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Dystonia and Chorea v0.334 PRNP Bryony Thompson Classified gene: PRNP as Green List (high evidence)
Dystonia and Chorea v0.334 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Dystonia and Chorea v0.333 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Dystonia and Chorea. Sources: Literature
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 30713928; 27400454
Phenotypes for gene: PRNP were set to Huntington disease-like 1 MONDO:0011299
Review for gene: PRNP was set to GREEN
Added comment: Chorea can be feature of inherited prionopathies.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 S100A3 Zornitza Stark Marked gene: S100A3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 S100A3 Zornitza Stark Gene: s100a3 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.332 Bryony Thompson Copied STR PRNP_CJD_octapeptide from panel Repeat Disorders
Dystonia and Chorea v0.332 PRNP_CJD_octapeptide Bryony Thompson STR: PRNP_CJD_octapeptide was added
STR: PRNP_CJD_octapeptide was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: PRNP_CJD_octapeptide.
Mode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407
Phenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 Zornitza Stark Copied gene S100A3 from panel Mendeliome
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 S100A3 Zornitza Stark gene: S100A3 was added
gene: S100A3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Literature
digenic tags were added to gene: S100A3.
Mode of inheritance for gene: S100A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A3 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A3 were set to Pulmonary fibrosis, MONDO:0002771, S100A3-related
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 S100A13 Zornitza Stark Marked gene: S100A13 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 S100A13 Zornitza Stark Gene: s100a13 has been classified as Red List (Low Evidence).
Mendeliome v1.4117 S100A3 Zornitza Stark Marked gene: S100A3 as ready
Mendeliome v1.4117 S100A3 Zornitza Stark Gene: s100a3 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.331 Bryony Thompson Copied STR TBP_SCA17_CAG from panel Repeat Disorders
Dystonia and Chorea v0.331 TBP_SCA17_CAG Bryony Thompson STR: TBP_SCA17_CAG was added
STR: TBP_SCA17_CAG was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: TBP_SCA17_CAG.
Mode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_SCA17_CAG were set to 10484774; 20301611; 29325606
Phenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136
Mendeliome v1.4117 S100A3 Zornitza Stark gene: S100A3 was added
gene: S100A3 was added to Mendeliome. Sources: Literature
digenic tags were added to gene: S100A3.
Mode of inheritance for gene: S100A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A3 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A3 were set to Pulmonary fibrosis, MONDO:0002771, S100A3-related
Review for gene: S100A3 was set to RED
Added comment: PMID 31073086 reports 13 individuals from 2 unrelated families, with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by hypomorphic S100A3 missense variant in a digenic context with high impact S100A13 homozygous variant. Functional studies in patient‑derived fibroblasts, iPSC‑derived alveolar cells and rescue experiments demonstrate reduced S100A3 expression, impaired calcium signalling, mitochondrial dysfunction and cytokine dysregulation, supporting pathogenicity.

However, note variant c.229C>T (p.R77C) is present in homozygous state in 12 individuals in gnomAD v4, hence S100A3 variant may be solely responsible.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 Zornitza Stark Copied gene S100A13 from panel Mendeliome
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 S100A13 Zornitza Stark gene: S100A13 was added
gene: S100A13 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Literature
digenic tags were added to gene: S100A13.
Mode of inheritance for gene: S100A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A13 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A13 were set to Pulmonary fibrosis, MONDO:0002771, S100A13-related
Mendeliome v1.4116 GSPT2 Morten Herlin reviewed gene: GSPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 41420488; Phenotypes: MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4116 S100A13 Zornitza Stark changed review comment from: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13.
Sources: Literature; to: PMID 31073086 reports 13 individuals from 2 families with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13.
Sources: Literature
Mendeliome v1.4116 S100A13 Zornitza Stark Marked gene: S100A13 as ready
Mendeliome v1.4116 S100A13 Zornitza Stark Gene: s100a13 has been classified as Red List (Low Evidence).
Mendeliome v1.4116 S100A13 Zornitza Stark gene: S100A13 was added
gene: S100A13 was added to Mendeliome. Sources: Literature
digenic tags were added to gene: S100A13.
Mode of inheritance for gene: S100A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A13 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A13 were set to Pulmonary fibrosis, MONDO:0002771, S100A13-related
Review for gene: S100A13 was set to RED
Added comment: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13.
Sources: Literature
Dystonia and Chorea v0.330 Bryony Thompson Copied STR ATN1_DRPLA_CAG from panel Repeat Disorders
Dystonia and Chorea v0.330 ATN1_DRPLA_CAG Bryony Thompson STR: ATN1_DRPLA_CAG was added
STR: ATN1_DRPLA_CAG was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: ATN1_DRPLA_CAG.
Mode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_DRPLA_CAG were set to 8136840; 8136826; 29325606; 20301664
Phenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Clefting disorders v0.310 BOC Zornitza Stark Marked gene: BOC as ready
Clefting disorders v0.310 BOC Zornitza Stark Gene: boc has been classified as Red List (Low Evidence).
Clefting disorders v0.310 BOC Zornitza Stark Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related
Clefting disorders v0.309 BOC Zornitza Stark edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related
Mendeliome v1.4115 BOC Zornitza Stark Marked gene: BOC as ready
Mendeliome v1.4115 BOC Zornitza Stark Gene: boc has been classified as Red List (Low Evidence).
Mendeliome v1.4115 BOC Zornitza Stark Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related
Mendeliome v1.4114 BOC Zornitza Stark edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related
Skeletal dysplasia v0.399 Sangavi Sivagnanasundram Copied gene OSR2 from panel Mendeliome
Skeletal dysplasia v0.399 OSR2 Sangavi Sivagnanasundram gene: OSR2 was added
gene: OSR2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OSR2 were set to 41424369; 21262216
Phenotypes for gene: OSR2 were set to MONDO:0005497
Mendeliome v1.4114 OSR2 Sangavi Sivagnanasundram gene: OSR2 was added
gene: OSR2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OSR2 were set to 41424369; 21262216
Phenotypes for gene: OSR2 were set to MONDO:0005497
Review for gene: OSR2 was set to GREEN
Added comment: 41424369 reports six unrelated families (13 affected individuals) presenting with radioulnar synostosis, distal ulna hypoplasia, joint stiffness, ear deformities, scoliosis and short stature.

Variant: two nonsense, two missense at the same codon, and a 383‑kb deletion were reported. The variants segregate in an autosomal‑dominant pattern with incomplete penetrance and was identified de novo in one family

Functional assays (Western blot, immunofluorescence) demonstrate loss‑of‑function.

21262216 - Reports Osr2 knockout mice that recapitulate the human phenotype of joint fusion, supporting the loss-of-function mechanism of the disease.
Sources: Literature
Clefting disorders v0.309 Zornitza Stark Copied gene BOC from panel Mendeliome
Clefting disorders v0.309 BOC Zornitza Stark gene: BOC was added
gene: BOC was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BOC were set to 40464334; 28677295
Mendeliome v1.4113 BOC Zornitza Stark gene: BOC was added
gene: BOC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BOC were set to 40464334; 28677295
Review for gene: BOC was set to RED
Added comment: BOC encodes a cell‑surface co‑receptor for Sonic Hedgehog signaling. PMID 40464334 reports 4 unrelated families with heterozygous BOC variants causing non‑syndromic orofacial clefts (cleft palate and microform cleft lip); three variants are de novo and one segregates dominantly, and zebrafish and cell‑based assays confirm hypomorphic activity. PMID 28677295 and PMID 28915250 describe BOC missense variants in holoprosencephaly and Gorlin syndrome, respectively, but present them as modifier alleles without segregation or functional validation.

However, all reported variants have relatively high gnomAD frequencies, raising the possibility that these are susceptibility alleles.
Sources: Literature
Mendeliome v1.4112 AXDND1 Zornitza Stark Classified gene: AXDND1 as Green List (high evidence)
Mendeliome v1.4112 AXDND1 Zornitza Stark Gene: axdnd1 has been classified as Green List (High Evidence).
Mendeliome v1.4111 AXDND1 Zornitza Stark edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Ax​dnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255
Infertility and Recurrent Pregnancy Loss v1.75 AXDND1 Zornitza Stark Classified gene: AXDND1 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v1.75 AXDND1 Zornitza Stark Gene: axdnd1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.74 AXDND1 Zornitza Stark edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Ax​dnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255
Autism v0.240 Sangavi Sivagnanasundram Copied gene UNC13C from panel Mendeliome
Autism v0.240 UNC13C Sangavi Sivagnanasundram gene: UNC13C was added
gene: UNC13C was added to Autism. Sources: Literature
Mode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13C were set to 41399760
Phenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092
Intellectual disability syndromic and non-syndromic v1.615 Sangavi Sivagnanasundram Copied gene UNC13C from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.615 UNC13C Sangavi Sivagnanasundram gene: UNC13C was added
gene: UNC13C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13C were set to 41399760
Phenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.4111 UNC13C Sangavi Sivagnanasundram gene: UNC13C was added
gene: UNC13C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13C were set to 41399760
Phenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: UNC13C was set to AMBER
Added comment: PMID 41399760 reports 11 individuals from 9 unrelated families with biallelic nonsense and missense UNC13C variants presenting with a severe neurodevelopmental disorder (global developmental delay, microcephaly, autism spectrum disorder, brain malformations, hypotonia). Inheritance is autosomal recessive. Drosophila knock‑in models examined ethanol sensitivity but did not reproduce neurodevelopmental phenotypes, offering limited functional support for pathogenicity.

Multiple different biallelic variants were reported - all were either absent or rare enough for AR gene in gnomAD v4.1 except for c.283C>T(p.Arg95Ter) which has a FAF of 0.4409%
Sources: Literature
Pain syndromes v0.37 SCN10A Chirag Patel reviewed gene: SCN10A: 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.73 SCN10A Chirag Patel reviewed gene: SCN10A: 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4110 SCN10A Chirag Patel reviewed gene: SCN10A: 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.614 SEPT2 Chirag Patel Marked gene: SEPT2 as ready
Intellectual disability syndromic and non-syndromic v1.614 SEPT2 Chirag Patel Gene: sept2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.614 Chirag Patel Copied gene SEPT2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.614 SEPT2 Chirag Patel gene: SEPT2 was added
gene: SEPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SEPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT2 were set to 41408595
Phenotypes for gene: SEPT2 were set to Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related
Mendeliome v1.4110 Chirag Patel Added reviews for gene SEPT2 from panel Mendeliome
Mendeliome v1.4109 SEPT2 Chirag Patel Marked gene: SEPT2 as ready
Mendeliome v1.4109 SEPT2 Chirag Patel Gene: sept2 has been classified as Green List (High Evidence).
Mendeliome v1.4109 SEPT2 Chirag Patel Classified gene: SEPT2 as Green List (high evidence)
Mendeliome v1.4109 SEPT2 Chirag Patel Gene: sept2 has been classified as Green List (High Evidence).
Mendeliome v1.4108 SEPT2 Chirag Patel gene: SEPT2 was added
gene: SEPT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT2 were set to 41408595
Phenotypes for gene: SEPT2 were set to Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related
Review for gene: SEPT2 was set to GREEN
Added comment: 7 individuals from 6 families (5 unrelated) with heterozygous missense SEPTIN2 variants causing a neurodevelopmental disorder. Clinical features included developmental delay/intellectual disability (6/7), hearing loss (4/7), cleft palate (3/7), ptosis (3/7), septal heart defect (2/7), syndactyly (2/7), and ADHD (2/7).

Most variants were de novo (5 families) except 1 family where the variant was inherited from an affected mother. Functional assays demonstrated dominant‑negative disruption of Septin‑2 homodimerisation and axon initial segment formation. Expression of mutant Septin-2 constructs in neurons leads to the disappearance of canonical hallmarks of the axon initial segment.
Sources: Literature
Mendeliome v1.4107 PTPN13 Sangavi Sivagnanasundram reviewed gene: PTPN13: Rating: AMBER; Mode of pathogenicity: None; Publications: 41422331, 29093530; Phenotypes: bone marrow failure syndrome MONDO:0000159, PTPN13-related, Hirschsprung disease MONDO:0018309; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.613 Sarah Milton Copied gene PCBP1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.613 PCBP1 Sarah Milton gene: PCBP1 was added
gene: PCBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PCBP1 were set to 41415500
Phenotypes for gene: PCBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PCBP1-related
Stroke v1.46 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from {Ischemic stroke, susceptibility to} MIM#601367 to {Ischemic stroke, susceptibility to} MIM#601367; Moyamoya disease, MONDO:0016820
Mendeliome v1.4107 PCBP1 Sarah Milton gene: PCBP1 was added
gene: PCBP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PCBP1 were set to 41415500
Phenotypes for gene: PCBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PCBP1-related
Review for gene: PCBP1 was set to GREEN
Added comment: Below information taken from pre print paper.

PCBP1 encodes the poly(rC)-binding protein 1, an RNA‑binding protein involved in transcriptional and translational processes and splicing.

PMID 41415500 reports 13 unrelated individuals with heterozygous de‑novo truncating or missense variants in PCBP1 presenting with a neurodevelopmental disorder characterized by intellectual disability, autism spectrum disorder, hypotonia, and variable additional features (seizures 3/13, microcephaly 3/13, ophthalmologic features 6/13).

All variants absent from gnomAD v4 and LOF proposed mechanism of disease with a significant paucity of LOF variants in the gene in gnomAD.

Functional assays in primary mouse hippocampal neurons transfected with patient variants showed mixed results. RNA‑sequencing from three of the patients showed altered splicing of other genes thought secondary to variants in PCBP1.
Sources: Literature
Stroke v1.45 NOS3 Zornitza Stark Publications for gene: NOS3 were set to 24986538; 28084234
Stroke v1.44 NOS3 Zornitza Stark Mode of inheritance for gene: NOS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Stroke v1.43 NOS3 Zornitza Stark Classified gene: NOS3 as Amber List (moderate evidence)
Stroke v1.43 NOS3 Zornitza Stark Gene: nos3 has been classified as Amber List (Moderate Evidence).
Stroke v1.42 Zornitza Stark Added reviews for gene NOS3 from panel Cerebral vascular malformations
Cerebral vascular malformations v1.12 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from Moyamoya disease, MONDO:0016820 to Moyamoya disease 8, MIM# 621469
Mendeliome v1.4106 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from Moyamoya disease, MONDO:0016820 to Moyamoya disease 8, MIM# 621469
Dystonia and Chorea v0.329 Bryony Thompson Panel name changed from Dystonia - complex to Dystonia and Chorea
HPO terms changed from Dystonia, HP:0001332 to Dystonia, HP:0001332; Chorea, HP:0002072
List of related panels changed from Dystonia; HP:0001332 to Dystonia; HP:0001332; Chorea; HP:0002072
Dystonia and Chorea v0.328 Bryony Thompson Copied STR JPH3_HDL2_CTG from panel Repeat Disorders
Dystonia and Chorea v0.328 JPH3_HDL2_CTG Bryony Thompson STR: JPH3_HDL2_CTG was added
STR: JPH3_HDL2_CTG was added to Dystonia - complex. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: JPH3_HDL2_CTG.
Mode of inheritance for STR: JPH3_HDL2_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: JPH3_HDL2_CTG were set to 11558794; 20301701
Phenotypes for STR: JPH3_HDL2_CTG were set to Huntington disease-like 2 MIM#606438
Dystonia and Chorea v0.327 Bryony Thompson Copied STR HTT_HD_CAG from panel Repeat Disorders
Dystonia and Chorea v0.327 HTT_HD_CAG Bryony Thompson STR: HTT_HD_CAG was added
STR: HTT_HD_CAG was added to Dystonia - complex. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: HTT_HD_CAG.
Mode of inheritance for STR: HTT_HD_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HTT_HD_CAG were set to 8458085; 20301482; 29325606
Phenotypes for STR: HTT_HD_CAG were set to Huntington disease MIM#143100
Dystonia and Chorea v0.326 Bryony Thompson Copied gene VPS11 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.326 VPS11 Bryony Thompson gene: VPS11 was added
gene: VPS11 was added to Dystonia - complex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 33452836
Phenotypes for gene: VPS11 were set to Dystonia 32, MIM# 619637; Dystonia, adult-onset
Dystonia and Chorea v0.325 Bryony Thompson Copied gene TUBB4A from panel Dystonia - isolated/combined
Dystonia and Chorea v0.325 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4A were set to 23424103; 23595291; 33084096; 32943487
Phenotypes for gene: TUBB4A were set to hereditary whispering dysphonia; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia
Dystonia and Chorea v0.324 Bryony Thompson Copied gene TOR1A from panel Dystonia - isolated/combined
Dystonia and Chorea v0.324 TOR1A Bryony Thompson gene: TOR1A was added
gene: TOR1A was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOR1A were set to 9288096; 19955557; 18477710; 32243914; 31583275; 31347572
Phenotypes for gene: TOR1A were set to Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100
Dystonia and Chorea v0.323 Bryony Thompson Copied gene THAP1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.323 THAP1 Bryony Thompson gene: THAP1 was added
gene: THAP1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: THAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: THAP1 were set to 21793105; 22377579; 36205328; 21425335; 20211909
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia; MONDO:0011264
Dystonia and Chorea v0.322 Bryony Thompson Copied gene TH from panel Dystonia - isolated/combined
Dystonia and Chorea v0.322 TH Bryony Thompson gene: TH was added
gene: TH was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, MIM# 605407; MONDO:0011551
Dystonia and Chorea v0.321 Bryony Thompson Copied STR TAF1_XDP_CCCTCT from panel Dystonia - isolated/combined
Dystonia and Chorea v0.321 TAF1_XDP_CCCTCT Bryony Thompson STR: TAF1_XDP_CCCTCT was added
STR: TAF1_XDP_CCCTCT was added to Dystonia - complex. Sources: Expert Review Green,Expert list
founder tags were added to STR: TAF1_XDP_CCCTCT.
Mode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810
Phenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250
Dystonia and Chorea v0.320 Bryony Thompson Copied gene SPR from panel Dystonia - isolated/combined
Dystonia and Chorea v0.320 SPR Bryony Thompson gene: SPR was added
gene: SPR was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to 11443547; 18502672; 22522443; 16532389; 31777525; 29147684; 28189489
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; MONDO:0012994
Dystonia and Chorea v0.319 Bryony Thompson Copied gene SLC2A1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.319 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to Dystonia 9, MIM# 601042; MONDO:0010983
Dystonia and Chorea v0.318 Bryony Thompson Copied gene SGCE from panel Dystonia - isolated/combined
Dystonia and Chorea v0.318 SGCE Bryony Thompson gene: SGCE was added
gene: SGCE was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to 11528394; 12821748; 16227522
Phenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Dystonia and Chorea v0.317 Bryony Thompson Copied gene RELN from panel Dystonia - isolated/combined
Dystonia and Chorea v0.317 RELN Bryony Thompson gene: RELN was added
gene: RELN was added to Dystonia - complex. Sources: Expert Review Red,Other
Mode of inheritance for gene: RELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELN were set to 32334381; 25648840
Phenotypes for gene: RELN were set to Myoclonus-dystonia syndrome MONDO:0000903
Dystonia and Chorea v0.316 Bryony Thompson Copied gene PRRT2 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.316 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22101681; 22120146; 22744660; 22399141
Phenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1, MIM# 128200; MONDO:0007494
Dystonia and Chorea v0.315 Bryony Thompson Copied gene PRKRA from panel Dystonia - isolated/combined
Dystonia and Chorea v0.315 PRKRA Bryony Thompson gene: PRKRA was added
gene: PRKRA was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: PRKRA.
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 18243799; 25142429; 29279192
Phenotypes for gene: PRKRA were set to Dystonia 16, MIM# 612067; MONDO:0012789
Dystonia and Chorea v0.314 Bryony Thompson Copied gene PODXL from panel Dystonia - isolated/combined
Dystonia and Chorea v0.314 PODXL Bryony Thompson gene: PODXL was added
gene: PODXL was added to Dystonia - complex. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: PODXL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PODXL were set to 26864383
Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease
Dystonia and Chorea v0.313 Bryony Thompson Copied gene PNKD from panel Dystonia - isolated/combined
Dystonia and Chorea v0.313 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259; 19124534; 21487022
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326
Dystonia and Chorea v0.312 Bryony Thompson Copied gene PDE10A from panel Dystonia - isolated/combined
Dystonia and Chorea v0.312 PDE10A Bryony Thompson gene: PDE10A was added
gene: PDE10A was added to Dystonia - complex. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to PMID 27058447
Phenotypes for gene: PDE10A were set to Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921)
Dystonia and Chorea v0.311 Bryony Thompson Copied gene PARK7 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.311 PARK7 Bryony Thompson gene: PARK7 was added
gene: PARK7 was added to Dystonia - complex. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARK7 were set to 29644727
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset MIM#606324
Dystonia and Chorea v0.310 Bryony Thompson Copied gene NIT1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.310 NIT1 Bryony Thompson gene: NIT1 was added
gene: NIT1 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIT1 were set to 38430071
Phenotypes for gene: NIT1 were set to Brain small vessel disease 4, MIM# 621313
Penetrance for gene: NIT1 were set to unknown
Dystonia and Chorea v0.309 Bryony Thompson Copied gene KMT2B from panel Dystonia - isolated/combined
Dystonia and Chorea v0.309 KMT2B Bryony Thompson gene: KMT2B was added
gene: KMT2B was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2B were set to 27839873; 27992417
Phenotypes for gene: KMT2B were set to early-onset dystonia; Dystonia 28, childhood-onset 617284; MONDO:0015004
Dystonia and Chorea v0.308 Bryony Thompson Copied gene KCTD17 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.308 KCTD17 Bryony Thompson gene: KCTD17 was added
gene: KCTD17 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCTD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCTD17 were set to 25983243; 30642807; 30579817
Phenotypes for gene: KCTD17 were set to Dystonia 26, myoclonic MIM#616398
Dystonia and Chorea v0.307 Bryony Thompson Copied gene KCNN2 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.307 KCNN2 Bryony Thompson gene: KCNN2 was added
gene: KCNN2 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN2 were set to 32212350; 33242881
Phenotypes for gene: KCNN2 were set to Dystonia 34, myoclonic, MIM#619724; Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Dystonia and Chorea v0.306 Bryony Thompson Copied gene KCNMA1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.306 KCNMA1 Bryony Thompson gene: KCNMA1 was added
gene: KCNMA1 was added to Dystonia - complex. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNMA1 were set to 26195193; 15937479; 29356177
Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446
Mode of pathogenicity for gene: KCNMA1 was set to Other
Dystonia and Chorea v0.305 Bryony Thompson Copied gene HPCA from panel Dystonia - isolated/combined
Dystonia and Chorea v0.305 HPCA Bryony Thompson gene: HPCA was added
gene: HPCA was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 25799108; 30991467; 30145809
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; MONDO:0009141; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features
Dystonia and Chorea v0.304 Bryony Thompson Copied gene GNAL from panel Dystonia - isolated/combined
Dystonia and Chorea v0.304 GNAL Bryony Thompson gene: GNAL was added
gene: GNAL was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAL were set to 23222958; 33175450; 32180288
Phenotypes for gene: GNAL were set to Dystonia 25, MIM# 615073; MONDO:0014033
Dystonia and Chorea v0.303 Bryony Thompson Copied gene GCH1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.303 GCH1 Bryony Thompson gene: GCH1 was added
gene: GCH1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 7874165; 11113234; 15753436
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Dystonia and Chorea v0.302 Bryony Thompson Copied gene GABRB3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.302 GABRB3 Bryony Thompson gene: GABRB3 was added
gene: GABRB3 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Dystonia and Chorea v0.301 Bryony Thompson Copied gene DRD2 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.301 DRD2 Bryony Thompson gene: DRD2 was added
gene: DRD2 was added to Dystonia - complex. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DRD2 were set to 33200438
Phenotypes for gene: DRD2 were set to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems
Penetrance for gene: DRD2 were set to Complete
Mode of pathogenicity for gene: DRD2 was set to Other
Dystonia and Chorea v0.300 Bryony Thompson Copied gene COL6A3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.300 COL6A3 Bryony Thompson gene: COL6A3 was added
gene: COL6A3 was added to Dystonia - complex. Sources: Expert Review Amber,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 26004199; 32037012; 26872670; 32037012
Phenotypes for gene: COL6A3 were set to Dystonia 27, MIM#616411
Dystonia and Chorea v0.299 Bryony Thompson Copied gene CIZ1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.299 CIZ1 Bryony Thompson gene: CIZ1 was added
gene: CIZ1 was added to Dystonia - complex. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CIZ1 were set to 27163549; 29154038; 22447717
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Dystonia and Chorea v0.298 Bryony Thompson Copied gene CACNA1B from panel Dystonia - isolated/combined
Dystonia and Chorea v0.298 CACNA1B Bryony Thompson gene: CACNA1B was added
gene: CACNA1B was added to Dystonia - complex. Sources: Expert Review Red,Other
Mode of inheritance for gene: CACNA1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1B were set to 25296916; 26157024; 35698023; 33051750; 35041927
Phenotypes for gene: CACNA1B were set to Myoclonus-dystonia syndrome MONDO:0000903
Dystonia and Chorea v0.297 Bryony Thompson Copied gene C9orf3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.297 C9orf3 Bryony Thompson gene: C9orf3 was added
gene: C9orf3 was added to Dystonia - complex. Sources: Expert Review Green,Literature
new gene name tags were added to gene: C9orf3.
Mode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C9orf3 were set to 34596301
Phenotypes for gene: C9orf3 were set to Dystonia 31, MIM# 619565
Dystonia and Chorea v0.296 Bryony Thompson Copied gene ATP5B from panel Dystonia - isolated/combined
Dystonia and Chorea v0.296 ATP5B Bryony Thompson gene: ATP5B was added
gene: ATP5B was added to Dystonia - complex. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP5B were set to 36860166; 40276935
Phenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related
Penetrance for gene: ATP5B were set to Incomplete
Dystonia and Chorea v0.295 Bryony Thompson Copied gene ATP1A3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.295 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Dystonia - complex. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 15260953; 17282997; 19351654, 22842232, 24468074, 33762331, 29861155, 31425744
Phenotypes for gene: ATP1A3 were set to ATP1A3-associated neurological disorder, MONDO:0700002
Dystonia and Chorea v0.294 Bryony Thompson Copied gene ARFGEF3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.294 ARFGEF3 Bryony Thompson gene: ARFGEF3 was added
gene: ARFGEF3 was added to Dystonia - complex. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARFGEF3 were set to PMID: 33098801
Phenotypes for gene: ARFGEF3 were set to Dystonia, MONDO:0044807, ARFGEF3-related
Dystonia and Chorea v0.293 Bryony Thompson Copied gene ANO3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.293 ANO3 Bryony Thompson gene: ANO3 was added
gene: ANO3 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO3 were set to 33388357
Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Dystonia and Chorea v0.292 Bryony Thompson Copied gene ADCY5 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.292 ADCY5 Bryony Thompson gene: ADCY5 was added
gene: ADCY5 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADCY5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598; 34631954; 28971144; 30975617
Phenotypes for gene: ADCY5 were set to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Intellectual disability syndromic and non-syndromic v1.612 MAEA Bryony Thompson Classified gene: MAEA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.612 MAEA Bryony Thompson Gene: maea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.611 Bryony Thompson Added reviews for gene MAEA from panel Mendeliome
Mendeliome v1.4105 MAEA Bryony Thompson Classified gene: MAEA as Green List (high evidence)
Mendeliome v1.4105 MAEA Bryony Thompson Gene: maea has been classified as Green List (High Evidence).
Mendeliome v1.4104 MAEA Bryony Thompson Publications for gene: MAEA were set to 40880485
Mendeliome v1.4103 MAEA Bryony Thompson reviewed gene: MAEA: Rating: GREEN; Mode of pathogenicity: None; Publications: 41420108, 40880485; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Parkinson disease v2.49 TENM4 Bryony Thompson Phenotypes for gene: TENM4 were changed from Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376 to tremor, hereditary essential, 5 MONDO:0014756
Early-onset Parkinson disease v2.48 TENM4 Bryony Thompson changed review comment from: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation.

Amber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.
PMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.
 PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family
 PMID 29249217 -  a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.
PMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.

PMID 34589676 - 2 rare missense in 2 patients with first branchial cleft anomalies. No other evidence. Multiple missense in different genes in one of the patients. - limited evidence for gene-disease association

PMID 41449293 - rare splice variant identified in a single family (segregates in 6 individuals) with childhood‑onset intellectual disability with epilepsy. Splice‑site‑mediated exon 10 skipping leading to seizures in a mouse model, supporting a pathogenic role. - single family reported
Sources: Literature; to: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation.
Amber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.
PMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.
 PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family
 PMID 29249217 -  a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.
PMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.
Sources: Literature
Early-onset Parkinson disease v2.48 Bryony Thompson Copied gene TENM4 from panel Mendeliome
Early-onset Parkinson disease v2.48 TENM4 Bryony Thompson gene: TENM4 was added
gene: TENM4 was added to Early-onset Parkinson disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TENM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TENM4 were set to 41449293; 36689009; 26188006; 29249217; 34589676; 22915103
Phenotypes for gene: TENM4 were set to Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376
Mendeliome v1.4103 TENM4 Bryony Thompson Classified gene: TENM4 as Amber List (moderate evidence)
Mendeliome v1.4103 TENM4 Bryony Thompson Gene: tenm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4102 TENM4 Bryony Thompson gene: TENM4 was added
gene: TENM4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TENM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TENM4 were set to 41449293; 36689009; 26188006; 29249217; 34589676; 22915103
Phenotypes for gene: TENM4 were set to Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376
Review for gene: TENM4 was set to AMBER
Added comment: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation.

Amber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.
PMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.
 PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family
 PMID 29249217 -  a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.
PMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.

PMID 34589676 - 2 rare missense in 2 patients with first branchial cleft anomalies. No other evidence. Multiple missense in different genes in one of the patients. - limited evidence for gene-disease association

PMID 41449293 - rare splice variant identified in a single family (segregates in 6 individuals) with childhood‑onset intellectual disability with epilepsy. Splice‑site‑mediated exon 10 skipping leading to seizures in a mouse model, supporting a pathogenic role. - single family reported
Sources: Literature
Mendeliome v1.4101 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4100 TNNT3 Zornitza Stark Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2, MIM# 618435 to Arthrogryposis, distal, type 2B2, MIM# 618435; Nemaline myopathy MONDO:0018958
Mendeliome v1.4099 TNNT3 Zornitza Stark Mode of inheritance for gene: TNNT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4098 TNNT3 Zornitza Stark edited their review of gene: TNNT3: Added comment: Three individuals from two unrelated families with bi-allelic variants and nemaline myopathy.; Changed publications: 12865991, 19142688, 21402185, 25337069, 17194691, 33977145, 29266598, 23775847; Changed phenotypes: Arthrogryposis, distal, type 2B2, MIM# 618435, Nemaline myopathy MONDO:0018958; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.387 SETX Zornitza Stark Marked gene: SETX as ready
Incidentalome v0.387 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Incidentalome v0.387 SETX Zornitza Stark Phenotypes for gene: SETX were changed from to Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
Incidentalome v0.386 SETX Zornitza Stark Publications for gene: SETX were set to
Incidentalome v0.385 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.384 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Incidentalome v0.384 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Incidentalome v0.384 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from to Parkinson disease 14, autosomal recessive 612953
Incidentalome v0.383 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Incidentalome v0.382 PLA2G6 Zornitza Stark Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v2.44 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome, MIM# 186580 to Blau syndrome, MIM# 186580; {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321
Autoinflammatory Disorders v2.43 NOD2 Zornitza Stark Publications for gene: NOD2 were set to 15459013
Autoinflammatory Disorders v2.42 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v2.41 NOD2 Zornitza Stark edited their review of gene: NOD2: Added comment: PMID 33692434 reports 92 unrelated families with biallelic loss‑of‑function NOD2 variants causing early‑onset Crohn’s disease.

Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. PMID 39372397 describes 152 adult‑onset Yao syndrome patients, many carrying the cis‑regulatory IVS8+158 variant that shows functional gain‑of‑function.; Changed publications: 15459013, 11385576, 17804789, 32463623, 33692434, 39372397; Changed phenotypes: Blau syndrome, MIM# 186580, {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4098 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome, MIM# 186580 to Blau syndrome, MIM# 186580; {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321
Mendeliome v1.4097 NOD2 Zornitza Stark Publications for gene: NOD2 were set to 15459013
Mendeliome v1.4096 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4095 NOD2 Zornitza Stark edited their review of gene: NOD2: Added comment: PMID 33692434 reports 92 unrelated families with biallelic loss‑of‑function NOD2 variants causing early‑onset Crohn’s disease.
Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. PMID 39372397 describes 152 adult‑onset Yao syndrome patients, many carrying the cis‑regulatory IVS8+158 variant that shows functional gain‑of‑function.; Changed publications: 15459013, 11385576, 17804789, 32463623, 33692434, 39372397; Changed phenotypes: Blau syndrome, MIM# 186580, {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4095 NCSTN Zornitza Stark Phenotypes for gene: NCSTN were changed from to Acne inversa, familial, 1 MIM#142690
Mendeliome v1.4094 NCSTN Zornitza Stark Publications for gene: NCSTN were set to
Mendeliome v1.4093 NCSTN Zornitza Stark Mode of inheritance for gene: NCSTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.398 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Skeletal dysplasia v0.398 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.398 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Skeletal dysplasia v0.397 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.396 EVC2 Zornitza Stark edited their review of gene: EVC2: Added comment: Both conditions have skeletal manifestations.; Changed phenotypes: Ellis-van Creveld syndrome (MIM#225500), Weyers acrofacial dysostosis, MIM# 193530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.300 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Polydactyly v0.300 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Polydactyly v0.300 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530
Polydactyly v0.299 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4092 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome (MIM#225500) to Ellis-van Creveld syndrome (MIM#225500); Weyers acrofacial dysostosis, MIM# 193530
Mendeliome v1.4091 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4090 EVC2 Zornitza Stark edited their review of gene: EVC2: Added comment: Variants associated with Weyers acrofacial dysostosis cluster in exon 22.; Changed phenotypes: Ellis-van Creveld syndrome (MIM#225500), Weyers acrofacial dysostosis, MIM# 193530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.117 Sarah Milton Copied gene B3GNT4 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.117 B3GNT4 Sarah Milton gene: B3GNT4 was added
gene: B3GNT4 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GNT4 were set to 41444428
Phenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.65 Sarah Milton Copied gene B3GNT4 from panel Mendeliome
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.65 B3GNT4 Sarah Milton gene: B3GNT4 was added
gene: B3GNT4 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GNT4 were set to 41444428
Phenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related
Mendeliome v1.4090 B3GNT4 Sarah Milton gene: B3GNT4 was added
gene: B3GNT4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GNT4 were set to 41444428
Phenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related
Review for gene: B3GNT4 was set to RED
Added comment: PMID 41444428 reports 1 individual from 1 family with autosomal recessive homozygous missense variant c.478G>T (p.G160W) presenting with late‑onset progressive brain atrophy and muscular dystrophy. The patient had normal development until age 8, then progressive motor decline, spastic paresis, severe muscle wasting, elevated CK, loss of language, and died at 47 years of age from respiratory failure. A knock‑in mouse model reproduces the muscle but not CNS aspects of phenotype.
Sources: Literature
Mendeliome v1.4089 RNU4-2 Zornitza Stark Phenotypes for gene: RNU4-2 were changed from Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851; Retinitis pigmentosa, MONDO:0019200, RNU4-2 related
Mendeliome v1.4088 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538; 40297424
Mendeliome v1.4087 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Added comment: PMID 39830270: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis. PREPRINT; Changed publications: 38991538, 40297424, 39830270; Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851, Retinitis pigmentosa, MONDO:0019200, RNU4-2 related
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Marked gene: RNU4-2 as ready
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Classified gene: RNU4-2 as Green List (high evidence)
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.234 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Retinitis pigmentosa v0.234 RNU4-2 Zornitza Stark gene: RNU4-2 was added
gene: RNU4-2 was added to Retinitis pigmentosa. Sources: Literature
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 39830270
Phenotypes for gene: RNU4-2 were set to Retinitis pigmentosa, MONDO:0019200, RNU4-2 related
Review for gene: RNU4-2 was set to GREEN
Added comment: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis.

PREPRINT
Sources: Literature
Genetic Epilepsy v1.355 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Autoinflammatory Disorders v2.41 AP1M2 Zornitza Stark Marked gene: AP1M2 as ready
Autoinflammatory Disorders v2.41 AP1M2 Zornitza Stark Gene: ap1m2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v2.41 Zornitza Stark Copied gene AP1M2 from panel Mendeliome
Autoinflammatory Disorders v2.41 AP1M2 Zornitza Stark gene: AP1M2 was added
gene: AP1M2 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1M2 were set to 41451456
Phenotypes for gene: AP1M2 were set to Inborn error of immunity, MONDO:0003778
Mendeliome v1.4087 AP1M2 Zornitza Stark Marked gene: AP1M2 as ready
Mendeliome v1.4087 AP1M2 Zornitza Stark Gene: ap1m2 has been classified as Red List (Low Evidence).
Mendeliome v1.4087 AP1M2 Zornitza Stark gene: AP1M2 was added
gene: AP1M2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1M2 were set to 41451456
Phenotypes for gene: AP1M2 were set to Inborn error of immunity, MONDO:0003778
Review for gene: AP1M2 was set to RED
Added comment: PMID 41451456 reports a single individual with biallelic splice‑site loss‑of‑function variant presenting with early‑onset autoinflammatory disease with severe colitis, failure‑to‑thrive, and perianal fistula. Functional studies demonstrate exon 10 skipping, loss of μ‑subunit interaction with TGN38, NF‑κB hyperactivation, and colitis in Ap1m2‑deficient mice that is rescued by TNFR1 knockout.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.610 NDUFA3 Zornitza Stark Marked gene: NDUFA3 as ready
Intellectual disability syndromic and non-syndromic v1.610 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.610 Zornitza Stark Copied gene NDUFA3 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.610 NDUFA3 Zornitza Stark gene: NDUFA3 was added
gene: NDUFA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA3 were set to 41038977; 39661167
Phenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related
Mitochondrial disease v1.12 NDUFA3 Zornitza Stark Classified gene: NDUFA3 as Green List (high evidence)
Mitochondrial disease v1.12 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence).
Mitochondrial disease v1.11 NDUFA3 Zornitza Stark edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351
Mendeliome v1.4086 NDUFA3 Zornitza Stark Publications for gene: NDUFA3 were set to 41038977; 39661167
Mendeliome v1.4085 NDUFA3 Zornitza Stark Classified gene: NDUFA3 as Green List (high evidence)
Mendeliome v1.4085 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence).
Mendeliome v1.4084 NDUFA3 Zornitza Stark edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351
Mendeliome v1.4084 G6PC Zornitza Stark Marked gene: G6PC as ready
Mendeliome v1.4084 G6PC Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is G6PC1.
Mendeliome v1.4084 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Mendeliome v1.4084 G6PC Zornitza Stark Tag new gene name tag was added to gene: G6PC.
Hypertrophic cardiomyopathy v1.22 Zornitza Stark Panel name changed from Hypertrophic cardiomyopathy_HCM to Hypertrophic cardiomyopathy
Skeletal dysplasia v0.396 MIR17HG Zornitza Stark Tag SV/CNV tag was added to gene: MIR17HG.
Skeletal dysplasia v0.396 MIR17HG Zornitza Stark Classified gene: MIR17HG as Amber List (moderate evidence)
Skeletal dysplasia v0.396 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.395 MIR17HG Zornitza Stark changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV
Sources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.
Sources: Expert list
Skeletal dysplasia v0.395 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Changed rating: AMBER; Changed publications: 25391829, 21892160, 29636449
Intellectual disability syndromic and non-syndromic v1.609 MIR17HG Zornitza Stark Publications for gene: MIR17HG were set to PMID: 25391829; 21892160
Intellectual disability syndromic and non-syndromic v1.608 MIR17HG Zornitza Stark Classified gene: MIR17HG as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.608 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.607 MIR17HG Zornitza Stark changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV.
Sources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v1.607 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449
Mendeliome v1.4084 MIR17HG Zornitza Stark Classified gene: MIR17HG as Amber List (moderate evidence)
Mendeliome v1.4084 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4083 MIR17HG Zornitza Stark changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV
Sources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.
Sources: Expert list
Mendeliome v1.4083 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Changed rating: AMBER
Mendeliome v1.4083 MIR17HG Zornitza Stark Tag SV/CNV tag was added to gene: MIR17HG.
Mendeliome v1.4083 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449
Skeletal dysplasia v0.395 MIR140 Zornitza Stark Classified gene: MIR140 as Amber List (moderate evidence)
Skeletal dysplasia v0.395 MIR140 Zornitza Stark Gene: mir140 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.394 MIR140 Zornitza Stark edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Mendeliome v1.4083 MIR140 Zornitza Stark Classified gene: MIR140 as Amber List (moderate evidence)
Mendeliome v1.4083 MIR140 Zornitza Stark Gene: mir140 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4082 MIR140 Zornitza Stark edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Intellectual disability syndromic and non-syndromic v1.607 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Intellectual disability syndromic and non-syndromic v1.606 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.355 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Genetic Epilepsy v1.354 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4082 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Mendeliome v1.4081 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v1.30 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Lissencephaly and Band Heterotopia v1.29 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: None
Mendeliome v1.4081 MYO9B Zornitza Stark Publications for gene: MYO9B were set to 16720215; 16423886; 16282976
Mendeliome v1.4080 MYO9B Zornitza Stark reviewed gene: MYO9B: Rating: AMBER; Mode of pathogenicity: None; Publications: 40382695; Phenotypes: Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.73 MYO9B Zornitza Stark Publications for gene: MYO9B were set to PMID: 36260368
Hereditary Neuropathy_CMT - isolated v1.72 MYO9B Zornitza Stark reviewed gene: MYO9B: Rating: AMBER; Mode of pathogenicity: None; Publications: 40382695; Phenotypes: Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Transplant Co-Morbidity v0.21 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.280 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Marked gene: JUP as ready
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Cardiomyopathy_Paediatric v0.216 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.215 JUP Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528, Naxos disease, MIM# 601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.106 JUP Zornitza Stark Marked gene: JUP as ready
Ectodermal Dysplasia v0.106 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.106 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia, Naxos disease to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Ectodermal Dysplasia v0.105 JUP Zornitza Stark Publications for gene: JUP were set to
Ectodermal Dysplasia v0.104 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.103 JUP Zornitza Stark changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.
Ectodermal Dysplasia v0.103 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v1.131 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v1.130 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4080 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4079 JUP Zornitza Stark changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.
Mendeliome v1.4079 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Desmosomal disorders v0.35 JUP Zornitza Stark Marked gene: JUP as ready
Desmosomal disorders v0.35 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Desmosomal disorders v0.35 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Desmosomal disorders v0.34 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Desmosomal disorders v0.33 JUP Zornitza Stark changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos disease: DEFINITIVE by ClinGen.
Desmosomal disorders v0.33 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.55 JUP Zornitza Stark edited their review of gene: JUP: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.55 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.76 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.75 JUP Zornitza Stark changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for the biallelic association.

Limited evidence for mono allelic association.
Arrhythmogenic Cardiomyopathy v0.75 JUP Zornitza Stark edited their review of gene: JUP: Changed phenotypes: Naxos disease, MIM# 601214, Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypoparathyroidism v1.12 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v1.606 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Intellectual disability syndromic and non-syndromic v1.605 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Genetic Epilepsy v1.354 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Genetic Epilepsy v1.353 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Mendeliome v1.4079 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Mendeliome v1.4078 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Intellectual disability syndromic and non-syndromic v1.605 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255
Intellectual disability syndromic and non-syndromic v1.604 COPB1 Zornitza Stark Publications for gene: COPB1 were set to 33632302
Intellectual disability syndromic and non-syndromic v1.603 COPB1 Zornitza Stark Classified gene: COPB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.603 COPB1 Zornitza Stark Gene: copb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.602 COPB1 Zornitza Stark edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255
Cataract v0.537 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255
Cataract v0.536 COPB1 Zornitza Stark Publications for gene: COPB1 were set to 33632302
Cataract v0.535 COPB1 Zornitza Stark edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255
Cataract v0.535 COPB1 Zornitza Stark edited their review of gene: COPB1: Changed rating: GREEN
Cataract v0.535 COPB1 Zornitza Stark Classified gene: COPB1 as Green List (high evidence)
Cataract v0.535 COPB1 Zornitza Stark Gene: copb1 has been classified as Green List (High Evidence).
Mendeliome v1.4078 COPB1 Zornitza Stark Classified gene: COPB1 as Green List (high evidence)
Mendeliome v1.4078 COPB1 Zornitza Stark Gene: copb1 has been classified as Green List (High Evidence).
Mendeliome v1.4077 COPB1 Zornitza Stark edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 40396222, 33632302; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255
Leukodystrophy v0.392 CNP Zornitza Stark Publications for gene: CNP were set to 32128616; 12590258
Leukodystrophy v0.391 CNP Zornitza Stark Classified gene: CNP as Green List (high evidence)
Leukodystrophy v0.391 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Leukodystrophy v0.390 CNP Zornitza Stark edited their review of gene: CNP: Added comment: PMID 40396300 adds two affected siblings from an independent consanguineous family with a homozygous nonsense CNP variant (p.Glu99*) resulting in hypomyelinating leukodystrophy type 20.; Changed rating: GREEN; Changed publications: 40396300
Intellectual disability syndromic and non-syndromic v1.602 CNP Zornitza Stark Marked gene: CNP as ready
Intellectual disability syndromic and non-syndromic v1.602 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Regression v0.602 CNP Zornitza Stark Marked gene: CNP as ready
Regression v0.602 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Regression v0.602 Zornitza Stark Copied gene CNP from panel Mendeliome
Regression v0.602 CNP Zornitza Stark gene: CNP was added
gene: CNP was added to Regression. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNP were set to 32128616; 12590258; 40396300
Phenotypes for gene: CNP were set to Leukodystrophy, hypomyelinating, 20, MIM# 619071
Intellectual disability syndromic and non-syndromic v1.602 Zornitza Stark Copied gene CNP from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.602 CNP Zornitza Stark gene: CNP was added
gene: CNP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNP were set to 32128616; 12590258; 40396300
Phenotypes for gene: CNP were set to Leukodystrophy, hypomyelinating, 20, MIM# 619071
Leukodystrophy v0.390 Zornitza Stark Added reviews for gene CNP from panel Mendeliome
Mendeliome v1.4077 CNP Zornitza Stark edited their review of gene: CNP: Changed phenotypes: Leukodystrophy, hypomyelinating, 20, MIM# 619071
Mendeliome v1.4077 CNP Zornitza Stark Publications for gene: CNP were set to 32128616; 12590258
Mendeliome v1.4076 CNP Zornitza Stark Classified gene: CNP as Green List (high evidence)
Mendeliome v1.4076 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Mendeliome v1.4075 CNP Zornitza Stark edited their review of gene: CNP: Added comment: PMID 40396300 adds two affected siblings from an independent consanguineous family with a homozygous nonsense CNP variant (p.Glu99*) resulting in hypomyelinating leukodystrophy type 20.; Changed rating: GREEN; Changed publications: 40396300, 32128616; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092
Infertility and Recurrent Pregnancy Loss v1.74 SPAG17 Zornitza Stark Marked gene: SPAG17 as ready
Infertility and Recurrent Pregnancy Loss v1.74 SPAG17 Zornitza Stark Gene: spag17 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.74 Zornitza Stark Copied gene SPAG17 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.74 SPAG17 Zornitza Stark gene: SPAG17 was added
gene: SPAG17 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG17 were set to 28548327; 40330001; 39686771
Phenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380
Mendeliome v1.4075 SPAG17 Zornitza Stark Publications for gene: SPAG17 were set to 28548327
Mendeliome v1.4074 SPAG17 Zornitza Stark Classified gene: SPAG17 as Green List (high evidence)
Mendeliome v1.4074 SPAG17 Zornitza Stark Gene: spag17 has been classified as Green List (High Evidence).
Mendeliome v1.4073 SPAG17 Zornitza Stark edited their review of gene: SPAG17: Added comment: Recent studies (PMIDs 28548327, 39686771, 40330001 and supporting mouse data in PMID 29690537) expand SPAG17‑associated male infertility to four unrelated families (seven affected individuals) with biallelic loss‑of‑function variants causing severe asthenozoospermia, multiple morphological abnormalities of the flagella (MMAF) or oligoasthenoteratozoospermia. Detailed semen analyses, sperm ultrastructure, immunofluorescence, Western blot, qPCR and TEM demonstrate loss of SPAG17 protein and axonemal defects, while a Spag17 knockout mouse recapitulates the infertility phenotype.; Changed rating: GREEN; Changed publications: 40330001, 39686771, 28548327
Infertility and Recurrent Pregnancy Loss v1.73 C1orf146 Zornitza Stark Marked gene: C1orf146 as ready
Infertility and Recurrent Pregnancy Loss v1.73 C1orf146 Zornitza Stark Gene: c1orf146 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.73 Zornitza Stark Copied gene C1orf146 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.73 C1orf146 Zornitza Stark gene: C1orf146 was added
gene: C1orf146 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: C1orf146 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf146 were set to 40374915; 37270785
Phenotypes for gene: C1orf146 were set to Infertility disorder, MONDO:0005047, C1orf146-related
Mendeliome v1.4073 C1orf146 Zornitza Stark Marked gene: C1orf146 as ready
Mendeliome v1.4073 C1orf146 Zornitza Stark Gene: c1orf146 has been classified as Red List (Low Evidence).
Mendeliome v1.4073 C1orf146 Zornitza Stark gene: C1orf146 was added
gene: C1orf146 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C1orf146 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf146 were set to 40374915; 37270785
Phenotypes for gene: C1orf146 were set to Infertility disorder, MONDO:0005047, C1orf146-related
Review for gene: C1orf146 was set to RED
Added comment: PMID 37270785 reports a 36‑year‑old woman with a homozygous splice‑site loss‑of‑function SPO16 variant (c.160+8A>G) presenting with premature ovarian insufficiency; minigene splicing assays demonstrated exon 3 skipping. PMID 40374915 describes a male from a separate unrelated family carrying a homozygous frameshift SPO16 variant (c.266del) who has non‑obstructive azoospermia with meiotic arrest; no functional studies were performed.
Sources: Literature
Mendeliome v1.4072 SKIV2L Zornitza Stark commented on gene: SKIV2L: New HGNC approved name is SKIC2
Mendeliome v1.4072 SKIV2L Zornitza Stark Tag new gene name tag was added to gene: SKIV2L.
Mendeliome v1.4072 HBD Zornitza Stark Marked gene: HBD as ready
Mendeliome v1.4072 HBD Zornitza Stark Gene: hbd has been classified as Green List (High Evidence).
Mendeliome v1.4072 Zornitza Stark Copied gene HBD from panel Red cell disorders
Mendeliome v1.4072 HBD Zornitza Stark gene: HBD was added
gene: HBD was added to Mendeliome. Sources: Expert Review Green,Yorkshire and North East GLH,NHS GMS,Wessex and West Midlands GLH,North West GLH,London South GLH
Mode of inheritance for gene: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBD were set to 27630894; 25490067
Phenotypes for gene: HBD were set to Thalassaemia, delta-; Thalassaemia due to Hb Lepore
Growth failure v1.95 PFAS Zornitza Stark Marked gene: PFAS as ready
Growth failure v1.95 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.601 PFAS Zornitza Stark Marked gene: PFAS as ready
Intellectual disability syndromic and non-syndromic v1.601 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.601 Zornitza Stark Copied gene PFAS from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.601 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Miscellaneous Metabolic Disorders v1.60 PFAS Zornitza Stark Marked gene: PFAS as ready
Miscellaneous Metabolic Disorders v1.60 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Growth failure v1.95 Zornitza Stark Copied gene PFAS from panel Mendeliome
Growth failure v1.95 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Growth failure. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Miscellaneous Metabolic Disorders v1.60 Zornitza Stark Copied gene PFAS from panel Mendeliome
Miscellaneous Metabolic Disorders v1.60 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Mendeliome v1.4071 PFAS Zornitza Stark Marked gene: PFAS as ready
Mendeliome v1.4071 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4071 PFAS Zornitza Stark Classified gene: PFAS as Amber List (moderate evidence)
Mendeliome v1.4071 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4070 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Review for gene: PFAS was set to AMBER
Added comment: PMID 40421664 reports 2 individuals from 2 unrelated families with biallelic missense variants presenting with prematurity, short stature, seizures, and mild neurodevelopmental impairment. Functional studies in patient fibroblasts show ~30% PFAS protein, ~16% enzyme activity, impaired purinosome formation, and rescue of purinosome formation and FGAR levels by wild‑type PFAS, supporting pathogenicity.
Sources: Literature
Mendeliome v1.4069 MAEL Zornitza Stark Marked gene: MAEL as ready
Mendeliome v1.4069 MAEL Zornitza Stark Gene: mael has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4069 MAEL Zornitza Stark Classified gene: MAEL as Amber List (moderate evidence)
Mendeliome v1.4069 MAEL Zornitza Stark Gene: mael has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4068 MAEL Zornitza Stark gene: MAEL was added
gene: MAEL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAEL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAEL were set to 40442410; 39122675
Phenotypes for gene: MAEL were set to Spermatogenic failure, MONDO:0004983, MAEL-related
Review for gene: MAEL was set to AMBER
Added comment: PMID 39122675 reports 1 individual and PMID 40442410 reports a second individual, together 2 unrelated families with autosomal recessive loss‑of‑function MAEL variants causing non‑obstructive azoospermia with meiotic arrest (male infertility). Functional evidence includes a minigene splicing assay and IHC loss of MAEL protein, as well as protein structural modelling, evolutionary conservation analysis, and a mouse knockout model that recapitulates spermatogenic failure.
Sources: Literature
Defects of intrinsic and innate immunity v1.29 LY9 Zornitza Stark Marked gene: LY9 as ready
Defects of intrinsic and innate immunity v1.29 LY9 Zornitza Stark Gene: ly9 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.29 Zornitza Stark Copied gene LY9 from panel Mendeliome
Defects of intrinsic and innate immunity v1.29 LY9 Zornitza Stark gene: LY9 was added
gene: LY9 was added to Defects of intrinsic and innate immunity. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LY9 were set to 40446017
Phenotypes for gene: LY9 were set to Inborn error of immunity, MONDO:0003778, LY9-related
Mendeliome v1.4067 LY9 Zornitza Stark Marked gene: LY9 as ready
Mendeliome v1.4067 LY9 Zornitza Stark Gene: ly9 has been classified as Green List (High Evidence).
Mendeliome v1.4067 LY9 Zornitza Stark Classified gene: LY9 as Green List (high evidence)
Mendeliome v1.4067 LY9 Zornitza Stark Gene: ly9 has been classified as Green List (High Evidence).
Mendeliome v1.4066 LY9 Zornitza Stark gene: LY9 was added
gene: LY9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LY9 were set to 40446017
Phenotypes for gene: LY9 were set to Inborn error of immunity, MONDO:0003778, LY9-related
Review for gene: LY9 was set to GREEN
Added comment: PMID 40446017 reports three individuals from three unrelated families with biallelic loss-of-function LY9 frameshift variants presenting with active tuberculosis (infant pulmonary TB, adult pulmonary TB, mediastinal tuberculous lymphadenitis). Detailed clinical phenotyping, segregation data, and rescue experiments demonstrate LY9 deficiency as the genetic cause of TB susceptibility.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.116 FOXK2 Zornitza Stark Marked gene: FOXK2 as ready
Muscular dystrophy and myopathy_Paediatric v1.116 FOXK2 Zornitza Stark Gene: foxk2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.116 Zornitza Stark Copied gene FOXK2 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.116 FOXK2 Zornitza Stark gene: FOXK2 was added
gene: FOXK2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Red,Literature
Mode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXK2 were set to 40410591
Phenotypes for gene: FOXK2 were set to Myopathy, MONDO:0005336, FOXK2-related
Mendeliome v1.4065 FOXK2 Zornitza Stark Marked gene: FOXK2 as ready
Mendeliome v1.4065 FOXK2 Zornitza Stark Gene: foxk2 has been classified as Red List (Low Evidence).
Mendeliome v1.4065 FOXK2 Zornitza Stark gene: FOXK2 was added
gene: FOXK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXK2 were set to 40410591
Phenotypes for gene: FOXK2 were set to Myopathy, MONDO:0005336, FOXK2-related
Review for gene: FOXK2 was set to RED
Added comment: PMID 40410591 reports five affected individuals from one family with isolated congenital ptosis and additional affected individuals from four families with congenital myopathy and ptosis, all carrying heterozygous missense variants in FOXK2 inherited in an autosomal dominant manner; functional assays in zebrafish, muscle‑specific mouse knockout, and FOXK2‑KO C2C12 cells demonstrate reduced protein levels, impaired myogenic differentiation and mitochondrial dysfunction that are rescued by wild‑type FOXK2. However, all the variants are present in gnomAD, including one in over 2,000 individuals, hence Red rating.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 DUSP1 Zornitza Stark Marked gene: DUSP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 DUSP1 Zornitza Stark Gene: dusp1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 Zornitza Stark Copied gene DUSP1 from panel Mendeliome
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 DUSP1 Zornitza Stark gene: DUSP1 was added
gene: DUSP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Red,Literature
Mode of inheritance for gene: DUSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUSP1 were set to 40359362
Phenotypes for gene: DUSP1 were set to Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related
Mendeliome v1.4064 DUSP1 Zornitza Stark Marked gene: DUSP1 as ready
Mendeliome v1.4064 DUSP1 Zornitza Stark Gene: dusp1 has been classified as Red List (Low Evidence).
Mendeliome v1.4064 DUSP1 Zornitza Stark gene: DUSP1 was added
gene: DUSP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DUSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUSP1 were set to 40359362
Phenotypes for gene: DUSP1 were set to Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related
Review for gene: DUSP1 was set to RED
Added comment: PMID 40359362 reports four individuals from two unrelated families with heterozygous and homozygous missense variants in DUSP1 presenting with semidominant palmoplantar keratoderma, focal hyperkeratosis, and, in homozygotes, severe PPK with hearing loss. Functional assays in primary keratinocytes and 3‑D skin equivalents demonstrate reduced DUSP1 protein, increased ERK1/2 phosphorylation, and rescue by ERK1/2 inhibition. The inheritance is postulated to be semidominant (monoallelic and biallelic) with dose‑dependent severity -- one family has two heterozygous individuals (insufficient segregation) and second family has a more severely affected homozygous individual and affected parent.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.600 Sarah Milton Copied Region ISCA-46295-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.600 ISCA-46295-Loss Sarah Milton Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Genetic Epilepsy v1.353 Sarah Milton Copied Region ISCA-46295-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.353 ISCA-46295-Loss Sarah Milton Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Intellectual disability syndromic and non-syndromic v1.599 Sarah Milton Copied Region ISCA-46290-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.599 ISCA-46290-Gain Sarah Milton Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 19716111; 27605428; 29707408; 16900295
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Genetic Epilepsy v1.352 Sarah Milton Copied Region ISCA-46290-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.352 ISCA-46290-Gain Sarah Milton Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 19716111; 27605428; 29707408; 16900295
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Red cell disorders v1.43 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Red cell disorders v1.43 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Red cell disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Radial Ray Abnormalities v1.21 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Radial Ray Abnormalities v1.21 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Radial Ray Abnormalities. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Intellectual disability syndromic and non-syndromic v1.598 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.598 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Fetal anomalies v1.512 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.512 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Diamond Blackfan anaemia v1.15 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Diamond Blackfan anaemia v1.15 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Diamond Blackfan anaemia. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Bone Marrow Failure v1.136 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Bone Marrow Failure v1.136 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Bone Marrow Failure. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Intellectual disability syndromic and non-syndromic v1.597 Sarah Milton Copied Region ISCA-37498-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.597 ISCA-37498-Loss Sarah Milton Region: ISCA-37498-Loss was added
Region: ISCA-37498-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-37498-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37498-Loss were set to 11q13.2q13.4 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.596 DLAT Zornitza Stark Publications for gene: DLAT were set to
Intellectual disability syndromic and non-syndromic v1.595 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.595 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Mitochondrial disease v1.11 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v0.381 TARDBP Zornitza Stark Mode of inheritance for gene: TARDBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.380 TARDBP Zornitza Stark reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v1.53 SORL1 Zornitza Stark Marked gene: SORL1 as ready
Early-onset Dementia v1.53 SORL1 Zornitza Stark Gene: sorl1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v1.53 Zornitza Stark Copied gene SORL1 from panel Incidentalome
Early-onset Dementia v1.53 SORL1 Zornitza Stark gene: SORL1 was added
gene: SORL1 was added to Early-onset Dementia. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SORL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SORL1 were set to 27026413; 39226352; 40182695
Phenotypes for gene: SORL1 were set to Alzheimer disease, MONDO:0004975, SORL1-related
Incidentalome v0.380 SORL1 Zornitza Stark Marked gene: SORL1 as ready
Incidentalome v0.380 SORL1 Zornitza Stark Gene: sorl1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.380 SORL1 Zornitza Stark Phenotypes for gene: SORL1 were changed from to Alzheimer disease, MONDO:0004975, SORL1-related
Incidentalome v0.379 SORL1 Zornitza Stark Publications for gene: SORL1 were set to
Incidentalome v0.378 SORL1 Zornitza Stark edited their review of gene: SORL1: Changed publications: 27026413, 39226352, 40182695
Incidentalome v0.378 SORL1 Zornitza Stark Mode of inheritance for gene: SORL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.377 SORL1 Zornitza Stark Classified gene: SORL1 as Amber List (moderate evidence)
Incidentalome v0.377 SORL1 Zornitza Stark Gene: sorl1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.376 SORL1 Zornitza Stark reviewed gene: SORL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease, MONDO:0004975, SORL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.376 SOD1 Zornitza Stark Marked gene: SOD1 as ready
Incidentalome v0.376 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Incidentalome v0.376 SOD1 Zornitza Stark Phenotypes for gene: SOD1 were changed from to Amyotrophic lateral sclerosis 1 MIM#105400; Spastic tetraplegia and axial hypotonia, progressive MIM#618598
Incidentalome v0.375 SOD1 Zornitza Stark Publications for gene: SOD1 were set to
Incidentalome v0.374 SOD1 Zornitza Stark Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Marked gene: RNU4-2 as ready
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538
Genetic Epilepsy v1.350 RNU4-2 Zornitza Stark Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.349 Zornitza Stark Added reviews for gene RNU4-2 from panel Intellectual disability syndromic and non-syndromic
Intellectual disability syndromic and non-syndromic v1.594 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538
Intellectual disability syndromic and non-syndromic v1.593 RNU4-2 Zornitza Stark Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.592 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Added comment: PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.; Changed publications: 38991538, 40297424; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4063 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538
Mendeliome v1.4062 RNU4-2 Zornitza Stark Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4061 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Added comment: PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.; Changed publications: 38991538, 40297424; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4061 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552 to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552; Glanzmann thrombasthenia 2, MIM# 619267
Mendeliome v1.4060 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4059 ITGB3 Zornitza Stark edited their review of gene: ITGB3: Added comment: Multiple families reported with biallelic variants and Glanzmann thrombasthenia.; Changed publications: 18065693, 19336737, 20081061, 23253071, 20020534; Changed phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552, Glanzmann thrombasthenia 2, MIM# 619267; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.68 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552 to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552; Glanzmann thrombasthenia 2, MIM# 619267
Bleeding and Platelet Disorders v1.67 ITGB3 Zornitza Stark Publications for gene: ITGB3 were set to 18065693; 19336737; 20081061; 23253071
Bleeding and Platelet Disorders v1.66 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.65 ITGB3 Zornitza Stark edited their review of gene: ITGB3: Added comment: Multiple families reported with biallelic variants and Glanzmann thrombasthenia.; Changed publications: 18065693, 19336737, 20081061, 23253071, 20020534; Changed phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552, Glanzmann thrombasthenia 2, MIM# 619267; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v1.10 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v1.10 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.10 GBE1 Zornitza Stark Publications for gene: GBE1 were set to 8613547
Multiple pterygium syndrome_Fetal akinesia sequence v1.9 GBE1 Zornitza Stark edited their review of gene: GBE1: Added comment: PMID 30303820 reports several cases presenting with fetal akinesia, the severe end of the spectrum for this gene.; Changed publications: 8613547, 30303820
Multiple pterygium syndrome_Fetal akinesia sequence v1.9 Zornitza Stark Copied gene GBE1 from panel Arthrogryposis
Multiple pterygium syndrome_Fetal akinesia sequence v1.9 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 8613547
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, MIM# 232500
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Deleted their comment
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Deleted their comment
Genetic Epilepsy v1.348 ATP9A Zornitza Stark commented on gene: ATP9A: Seizures reported with both MOIs.
Genetic Epilepsy v1.348 Zornitza Stark Copied gene ATP9A from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.348 ATP9A Zornitza Stark gene: ATP9A was added
gene: ATP9A was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ATP9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to 34379057; 34764295; 36604604; 40226306
Phenotypes for gene: ATP9A were set to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242
Intellectual disability syndromic and non-syndromic v1.592 ATP9A Zornitza Stark Publications for gene: ATP9A were set to 34379057; 34764295
Intellectual disability syndromic and non-syndromic v1.591 ATP9A Zornitza Stark Mode of inheritance for gene: ATP9A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.590 ATP9A Zornitza Stark edited their review of gene: ATP9A: Added comment: PMIDs 34379057, 34764295, 36604604 and 40226306 report 12 unrelated families with ATP9A variants. Six families carry biallelic loss‑of‑function variants causing an autosomal recessive neurodevelopmental disorder with post‑natal microcephaly, failure‑to‑thrive and behavioural abnormalities; five families carry de novo heterozygous missense variants causing autosomal dominant nonsyndromic intellectual disability with seizures and autism‑like features. Multiple functional studies in patient cells, mouse knock‑out models and rescue assays provide strong loss‑of‑function evidence.; Changed publications: 34379057, 34764295, 36604604, 40226306; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4059 ATP9A Zornitza Stark Publications for gene: ATP9A were set to 34379057; 34764295
Mendeliome v1.4058 ATP9A Zornitza Stark Mode of inheritance for gene: ATP9A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4057 ATP9A Zornitza Stark edited their review of gene: ATP9A: Added comment: PMIDs 34379057, 34764295, 36604604 and 40226306 report 12 unrelated families with ATP9A variants. Six families carry biallelic loss‑of‑function variants causing an autosomal recessive neurodevelopmental disorder with post‑natal microcephaly, failure‑to‑thrive and behavioural abnormalities; five families carry de novo heterozygous missense variants causing autosomal dominant nonsyndromic intellectual disability with seizures and autism‑like features. Multiple functional studies in patient cells, mouse knock‑out models and rescue assays provide strong loss‑of‑function evidence.; Changed publications: 40226306, 36604604, 34764295, 34379057; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrichosis syndromes v0.48 KCNN3 Chirag Patel Classified gene: KCNN3 as Green List (high evidence)
Hypertrichosis syndromes v0.48 KCNN3 Chirag Patel Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.590 DLAT Chris Ciotta reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 39007626, 29093066, 16049940; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.72 Sarah Milton Copied Region ISCA-37494-Loss from panel Common deletion and duplication syndromes
Infertility and Recurrent Pregnancy Loss v1.72 ISCA-37494-Loss Sarah Milton Region: ISCA-37494-Loss was added
Region: ISCA-37494-Loss was added to Infertility and Recurrent Pregnancy Loss. Sources: ClinGen
Mode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-37494-Loss were set to PMID: 25927380, 21984752
Common deletion and duplication syndromes v0.149 ISCA-37494-Loss Sarah Milton Region: ISCA-37494-Loss was added
Region: ISCA-37494-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-37494-Loss were set to PMID: 25927380, 21984752
Review for Region: ISCA-37494-Loss was set to GREEN
Added comment: HI3 region defined by Clingen encompasses BRCC3, CLIC2, F8, RAB39B.
Interestingly described females thus far show no phenotype due to skewed X inactivation, thought to be lethal for males (some reports of increased pregnancy loss in carrier mothers)
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v1.590 Sarah Milton Copied Region ISCA-37494-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.590 ISCA-37494-Gain Sarah Milton Region: ISCA-37494-Gain was added
Region: ISCA-37494-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37494-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-37494-Gain were set to 25927380; 20301461; 32043567; 32112660
Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections
Microcephaly v1.396 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.396 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v1.590 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.590 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Genetic Epilepsy v1.347 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.347 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Callosome v0.587 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Callosome v0.587 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Callosome. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Severe early-onset obesity v1.26 Sarah Milton Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes
Severe early-onset obesity v1.26 ISCA-37486-Loss Sarah Milton Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37486-Loss.
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Intellectual disability syndromic and non-syndromic v1.589 Sarah Milton Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.589 ISCA-37486-Loss Sarah Milton Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37486-Loss.
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Autism v0.239 Sarah Milton Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes
Autism v0.239 ISCA-37486-Loss Sarah Milton Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Autism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37486-Loss.
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Severe early-onset obesity v1.25 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Severe early-onset obesity v1.25 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Intellectual disability syndromic and non-syndromic v1.588 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.588 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Hypogonadotropic hypogonadism v0.79 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Hypogonadotropic hypogonadism v0.79 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Congenital hypothyroidism v0.79 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Congenital hypothyroidism v0.79 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Mackenzie's Mission_Reproductive Carrier Screening v0.111 CTU2 Sinead OSullivan gene: CTU2 was added
gene: CTU2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to (PMID: 26633546): (PMID: 27480277): (PMID: 31301155): (PMID: 8348206)
Phenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma
Review for gene: CTU2 was set to GREEN
Added comment: PMID: 26633546
- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant
- all had microcephaly but measurements were not provided

PMID: 27480277
- 2 additional patients from an extended consanguineous family with the same variant as above
- Patient 1: head circumference of -3.5SD at birth, not growing
- Patient 2: head circumference of -4.3 SD

PMID: 31301155
- 5 new patients with microcephaly (no measurements provided)
- 3x PTVs and 1x missense

PMID: 38348206
- 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect
- From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A)
Sources: Literature
Genomic newborn screening: BabyScreen+ v1.147 CTU2 Sinead OSullivan gene: CTU2 was added
gene: CTU2 was added to Genomic newborn screening: BabyScreen+. Sources: Literature
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to PMID: 31301155; 27480277; 26633546
Phenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma
Review for gene: CTU2 was set to GREEN
Added comment: PMID: 26633546
- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant
- all had microcephaly but measurements were not provided

PMID: 27480277
- 2 additional patients from an extended consanguineous family with the same variant as above
- Patient 1: head circumference of -3.5SD at birth, not growing
- Patient 2: head circumference of -4.3 SD

PMID: 31301155
- 5 new patients with microcephaly (no measurements provided)
- 3x PTVs and 1x missense

PMID: 38348206
- 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect
- From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A)
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.587 Sarah Milton Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.587 ISCA-37478-Gain Sarah Milton Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Genetic Epilepsy v1.346 Sarah Milton Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.346 ISCA-37478-Gain Sarah Milton Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Autism v0.238 Sarah Milton Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes
Autism v0.238 ISCA-37478-Gain Sarah Milton Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Autism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Common deletion and duplication syndromes v0.148 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.586 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.585 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.585 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.584 Sarah Milton Copied Region ISCA-37468-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.584 ISCA-37468-Loss Sarah Milton Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen,Expert Review Green
SV/CNV tags were added to Region: ISCA-37468-Loss.
Mode of inheritance for Region: ISCA-37468-Loss 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-37468-Loss were set to PMID: 22126752; 16385466; 20186789
Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy
Common deletion and duplication syndromes v0.147 ISCA-37468-Loss Sarah Milton changed review comment from: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines.; to: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion, with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines.
Common deletion and duplication syndromes v0.147 ISCA-37468-Loss Sarah Milton reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Common deletion and duplication syndromes v0.147 ISCA-37468-Loss Sarah Milton Chromosome Xp11.3 deletion syndrome was changed to Xp11.23 region (includes MAOA and MAOB) Loss
Source Expert list was removed from Region: ISCA-37468-Loss.
Source ClinGen was added to Region: ISCA-37468-Loss.
Gene was set to MAOB. Panel: Common deletion and duplication syndromes
Hand and foot malformations v0.82 Sarah Milton Copied Region ISCA-37467-Gain from panel Common deletion and duplication syndromes
Hand and foot malformations v0.82 ISCA-37467-Gain Sarah Milton Region: ISCA-37467-Gain was added
Region: ISCA-37467-Gain was added to Hand and foot malformations. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787
Phenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies
Severe Combined Immunodeficiency v1.29 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Severe Combined Immunodeficiency v1.29 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Severe Combined Immunodeficiency. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Intellectual disability syndromic and non-syndromic v1.583 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.583 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Genetic Epilepsy v1.345 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.345 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Congenital Heart Defect v0.521 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.521 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Clefting disorders v0.308 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Clefting disorders v0.308 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Clefting disorders. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Calcium and Phosphate disorders v1.31 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Calcium and Phosphate disorders v1.31 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Calcium and Phosphate disorders. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Intellectual disability syndromic and non-syndromic v1.582 Sarah Milton Copied Region ISCA-37446-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.582 ISCA-37446-Gain Sarah Milton Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
Intellectual disability syndromic and non-syndromic v1.582 Sarah Milton Copied Region ISCA-37443-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.582 ISCA-37443-Loss Sarah Milton Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115
Phenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism
Intellectual disability syndromic and non-syndromic v1.581 Sarah Milton Copied Region ISCA-37441-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.581 ISCA-37441-Loss Sarah Milton Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to PMID: 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina
Monogenic Diabetes v0.159 Sarah Milton Copied Region ISCA-37442-Gain from panel Common deletion and duplication syndromes
Monogenic Diabetes v0.159 ISCA-37442-Gain Sarah Milton Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37442-Gain.
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 8842729
Phenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM# 601410
Craniosynostosis v1.74 Sarah Milton Copied Region ISCA-37441-Loss from panel Common deletion and duplication syndromes
Craniosynostosis v1.74 ISCA-37441-Loss Sarah Milton Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Craniosynostosis. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to PMID: 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina
Mitochondrial disease v1.11 Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes
Mitochondrial disease v1.11 ISCA-37440-Loss Sarah Milton Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Mitochondrial disease. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Intellectual disability syndromic and non-syndromic v1.580 Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.580 ISCA-37440-Loss Sarah Milton Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Aminoacidopathy v1.139 Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes
Aminoacidopathy v1.139 ISCA-37440-Loss Sarah Milton Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Aminoacidopathy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Cerebral vascular malformations v1.11 Sangavi Sivagnanasundram Copied gene LATS1 from panel Mendeliome
Cerebral vascular malformations v1.11 LATS1 Sangavi Sivagnanasundram gene: LATS1 was added
gene: LATS1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: LATS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LATS1 were set to 35986120
Phenotypes for gene: LATS1 were set to cerebral cavernous malformations MONDO:0031037
Mendeliome v1.4057 LATS1 Sangavi Sivagnanasundram gene: LATS1 was added
gene: LATS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LATS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LATS1 were set to 35986120
Phenotypes for gene: LATS1 were set to cerebral cavernous malformations MONDO:0031037
Review for gene: LATS1 was set to RED
Added comment: LATS1 encodes a serine‑threonine kinase in the Hippo signaling pathway that regulates YAP activity.
One reported Chinese family with missense variant (c.821C>T, p.Thr274Ile) in LATS1 and a phenotype consistent with CCM on imaging. The variant appeared to segregate in the family in affected individuals however there are multiple individuals that weren't assessed.
Sources: Literature
Mendeliome v1.4056 YME1L1 Zornitza Stark Phenotypes for gene: YME1L1 were changed from Optic atrophy 11, MIM#617302 to Optic atrophy 11, MIM#617302; Mitochondrial disease, MONDO:0044970, YME1L1-related
Mendeliome v1.4055 YME1L1 Zornitza Stark Publications for gene: YME1L1 were set to 30544562; 27495975
Mendeliome v1.4054 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Added comment: PMID 40255048: Reports 2 individuals from a single family with a homozygous missense variant NM_014263.4:c.1999C>G (p.Leu667Val) presenting with childhood‑onset sensorineural hearing loss, developmental delay, basal ganglia MRI hyperintensity, and marked 3‑methylglutaconic and 3‑methylglutaric aciduria. Patient‑derived fibroblasts display abnormal OPA1 and PRELID1 processing, increased mitochondrial fragmentation, reduced citrate synthase and α‑ketoglutarate dehydrogenase activities, and diminished oxygen consumption, supporting a loss‑of‑function mechanism.; Changed publications: 30544562, 27495975, 40255048; Changed phenotypes: Optic atrophy 11, MIM#617302, Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.10 YME1L1 Zornitza Stark Phenotypes for gene: YME1L1 were changed from Optic atrophy 11 MIM#617302 to Optic atrophy 11 MIM#617302; Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.9 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Changed phenotypes: Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.9 YME1L1 Zornitza Stark Publications for gene: YME1L1 were set to 30544562; 27495975
Mitochondrial disease v1.8 YME1L1 Zornitza Stark Deleted their comment
Mitochondrial disease v1.8 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Added comment: PMID 40255048: Reports 2 individuals from a single family with a homozygous missense variant NM_014263.4:c.1999C>G (p.Leu667Val) presenting with childhood‑onset sensorineural hearing loss, developmental delay, basal ganglia MRI hyperintensity, and marked 3‑methylglutaconic and 3‑methylglutaric aciduria. Patient‑derived fibroblasts display abnormal OPA1 and PRELID1 processing, increased mitochondrial fragmentation, reduced citrate synthase and α‑ketoglutarate dehydrogenase activities, and diminished oxygen consumption, supporting a loss‑of‑function mechanism.; Changed publications: 30544562, 27495975, 40255048
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Marked gene: PACRG as ready
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Gene: pacrg has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056
Infertility and Recurrent Pregnancy Loss v1.70 PACRG Zornitza Stark Deleted their comment
Infertility and Recurrent Pregnancy Loss v1.70 Zornitza Stark Copied gene PACRG from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.70 PACRG Zornitza Stark gene: PACRG was added
gene: PACRG was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: PACRG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056
Phenotypes for gene: PACRG were set to Spermatogenic failure, MONDO:0004983, PACRG-related
Mendeliome v1.4054 PACRG Zornitza Stark Phenotypes for gene: PACRG were changed from to Spermatogenic failure, MONDO:0004983, PACRG-related
Mendeliome v1.4053 PACRG Zornitza Stark Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298
Mendeliome v1.4052 PACRG Zornitza Stark Mode of inheritance for gene: PACRG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4051 PACRG Zornitza Stark edited their review of gene: PACRG: Added comment: PMID 34089056 and PMID 40298292 report 2 individuals from 2 families with biallelic loss-of-function variants presenting with severe sperm head defects and impaired motility (DFS‑MMAF), causing male infertility. Both studies provide detailed clinical phenotyping but lack segregation analysis and functional validation. Also, both report the same variant so can't be certain the individuals are unrelated.; Changed publications: 40298292, 34089056; Changed phenotypes: Spermatogenic failure, MONDO:0004983, PACRG-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.579 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Intellectual disability syndromic and non-syndromic v1.579 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.579 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Intellectual disability syndromic and non-syndromic v1.578 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Callosome v0.586 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Callosome v0.586 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Callosome v0.586 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Callosome v0.585 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Genetic Epilepsy v1.343 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Arthrogryposis v1.12 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Arthrogryposis v1.11 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Arthrogryposis v1.10 SCYL2 Zornitza Stark Classified gene: SCYL2 as Green List (high evidence)
Arthrogryposis v1.10 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.577 Zornitza Stark Copied gene SCYL2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.577 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Genetic Epilepsy v1.342 Zornitza Stark Copied gene SCYL2 from panel Mendeliome
Genetic Epilepsy v1.342 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Fetal anomalies v1.511 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Callosome v0.584 Zornitza Stark Copied gene SCYL2 from panel Mendeliome
Callosome v0.584 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Callosome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Fetal anomalies v1.510 SCYL2 Zornitza Stark Classified gene: SCYL2 as Green List (high evidence)
Fetal anomalies v1.510 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Fetal anomalies v1.509 SCYL2 Zornitza Stark reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40243816, 39169672, 31960134; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v1.9 Zornitza Stark Added reviews for gene SCYL2 from panel Mendeliome
Mendeliome v1.4051 SCYL2 Zornitza Stark Classified gene: SCYL2 as Green List (high evidence)
Mendeliome v1.4051 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Mendeliome v1.4050 SCYL2 Zornitza Stark edited their review of gene: SCYL2: Added comment: PMID 31960134, 39169672, 40243816, and 36344539 collectively report seven unrelated families with biallelic SCYL2 variants. Five families present a severe syndromic arthrogryposis multiplex congenita (Zain syndrome/AMC4) featuring arthrogryposis, microcephaly, corpus callosum agenesis, optic atrophy, epilepsy and early lethality. Two families display a milder neurodevelopmental disorder with speech delay, autism spectrum disorder, intellectual disability and dysmorphic features but no arthrogryposis. Mouse knockout models and patient‑cell Western blot demonstrate loss‑of‑function, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40243816, 39169672, 31960134; Changed phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Mendeliome v1.4050 PPP5C Zornitza Stark Publications for gene: PPP5C were set to 35361529; 25363768; 33057194
Mendeliome v1.4049 PPP5C Zornitza Stark reviewed gene: PPP5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40172746; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPP5C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.576 PPP5C Zornitza Stark Publications for gene: PPP5C were set to 35361529; 25363768; 33057194
Intellectual disability syndromic and non-syndromic v1.575 PPP5C Zornitza Stark reviewed gene: PPP5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40172746; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPP5C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.575 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.575 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.574 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: PMID 40180615; 39924787; 39766333; 38055078: additional cases not included in the ClinGen assessment.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078
Genetic Epilepsy v1.341 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Genetic Epilepsy v1.341 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Mendeliome v1.4049 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Mendeliome v1.4049 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Genetic Epilepsy v1.340 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: PMIDs 40180615; 39924787; 39766333; 38055078: additional cases not included in the ClinGen assessment.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078
Mendeliome v1.4048 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: PMIDs 40180615; 39924787; 39766333; 38055078: additional cases not included in ClinGen assessment, upgrade to Green.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078
Congenital Disorders of Glycosylation v1.82 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Congenital Disorders of Glycosylation v1.82 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.81 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: Additional cases reported that were not included in the ClinGen assessment, upgraded to Green.; Changed rating: GREEN; Changed publications: 40180615, 39924787, 39766333, 38055078
Fetal anomalies v1.509 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from Cleft lip to Orofacial cleft MONDO:0000358, ESRP2-related
Fetal anomalies v1.508 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
Fetal anomalies v1.507 ESRP2 Zornitza Stark Classified gene: ESRP2 as Green List (high evidence)
Fetal anomalies v1.507 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Green List (High Evidence).
Fetal anomalies v1.506 ESRP2 Zornitza Stark reviewed gene: ESRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39179789; Phenotypes: Orofacial cleft MONDO:0000358, ESRP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.307 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from cleft lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152 to Orofacial cleft MONDO:0000358, ESRP2-related
Clefting disorders v0.306 ESRP2 Zornitza Stark edited their review of gene: ESRP2: Changed phenotypes: Orofacial cleft MONDO:0000358, ESRP2-related
Clefting disorders v0.306 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
Clefting disorders v0.305 ESRP2 Zornitza Stark Classified gene: ESRP2 as Green List (high evidence)
Clefting disorders v0.305 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Green List (High Evidence).
Clefting disorders v0.304 ESRP2 Zornitza Stark edited their review of gene: ESRP2: Added comment: Further functional work on some of the variants in PMID 39179789.; Changed rating: GREEN; Changed publications: 29805042, 39179789
Mendeliome v1.4048 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from Orofacial cleft MONDO:0000358 to Orofacial cleft MONDO:0000358, ESRP2-related
Mendeliome v1.4047 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
Mendeliome v1.4046 ESRP2 Zornitza Stark Classified gene: ESRP2 as Green List (high evidence)
Mendeliome v1.4046 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Green List (High Evidence).
Mendeliome v1.4045 ESRP2 Zornitza Stark edited their review of gene: ESRP2: Added comment: Further functional work on some of the variants in PMID 39179789.; Changed rating: GREEN; Changed publications: 29805042, 39179789
Intellectual disability syndromic and non-syndromic v1.574 Sarah Milton Copied Region ISCA-37439-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.574 ISCA-37439-Gain Sarah Milton Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37439-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-37439-Gain were set to PMID: 20004760
Phenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Hereditary Neuropathy_CMT - isolated v1.72 Sarah Milton Copied Region ISCA-37436-Loss from panel Common deletion and duplication syndromes
Hereditary Neuropathy_CMT - isolated v1.72 ISCA-37436-Loss Sarah Milton Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Hereditary Neuropathy_CMT - isolated. Sources: 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_CMT - isolated v1.71 Sarah Milton Copied Region ISCA-37436-Gain from panel Common deletion and duplication syndromes
Hereditary Neuropathy_CMT - isolated v1.71 ISCA-37436-Gain Sarah Milton Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Intellectual disability syndromic and non-syndromic v1.573 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.573 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Genetic Epilepsy v1.340 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.340 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Deafness_IsolatedAndComplex v1.316 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Deafness_IsolatedAndComplex v1.316 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Congenital Heart Defect v0.520 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.520 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Hereditary Spastic Paraplegia v1.136 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Hereditary Spastic Paraplegia v1.135 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.572 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Intellectual disability syndromic and non-syndromic v1.571 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.583 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Callosome v0.582 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.339 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Genetic Epilepsy v1.338 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4045 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Mendeliome v1.4044 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v1.28 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Severe Combined Immunodeficiency v1.28 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Severe Combined Immunodeficiency. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Intellectual disability syndromic and non-syndromic v1.571 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.571 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Genetic Epilepsy v1.338 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.338 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Congenital Heart Defect v0.519 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.519 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Clefting disorders v0.304 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Clefting disorders v0.304 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Clefting disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Calcium and Phosphate disorders v1.30 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Calcium and Phosphate disorders v1.30 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Calcium and Phosphate disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Intellectual disability syndromic and non-syndromic v1.570 Sarah Milton Copied Region ISCA-37433-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.570 ISCA-37433-Gain Sarah Milton Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37433-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Renal Macrocystic Disease v0.104 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Renal Macrocystic Disease v0.104 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Renal Macrocystic Disease. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Monogenic Diabetes v0.158 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Monogenic Diabetes v0.158 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Intellectual disability syndromic and non-syndromic v1.569 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.569 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.152 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.152 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Ciliopathies v1.97 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Ciliopathies v1.97 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Ciliopathies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Cholestasis v1.6 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Cholestasis v1.6 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Cholestasis. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Microcephaly v1.395 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Microcephaly v1.395 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Microcephaly. Sources: 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
Intellectual disability syndromic and non-syndromic v1.568 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.568 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: 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
Genetic Epilepsy v1.337 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.337 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Genetic Epilepsy. Sources: 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) Nonsyndromic v0.151 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.151 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: 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
Callosome v0.582 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Callosome v0.582 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Callosome. Sources: 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
Sarcoma soft tissue v1.1 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Sarcoma soft tissue v1.1 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Sarcoma soft tissue. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Rasopathy v0.112 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Rasopathy v0.112 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Rasopathy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Paraganglioma_phaeochromocytoma v1.2 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Paraganglioma_phaeochromocytoma v1.2 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Paraganglioma_phaeochromocytoma. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Macrocephaly_Megalencephaly v0.161 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Macrocephaly_Megalencephaly v0.161 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.567 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.567 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Hydrocephalus_Ventriculomegaly v0.133 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Hydrocephalus_Ventriculomegaly v0.133 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Facial papules v1.1 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Facial papules v1.1 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Facial papules. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Congenital Heart Defect v0.518 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.518 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Cerebral vascular malformations v1.10 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Cerebral vascular malformations v1.10 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Cerebral vascular malformations. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Cancer Predisposition_Paediatric v0.133 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Cancer Predisposition_Paediatric v0.133 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Cancer Predisposition_Paediatric. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Breast Cancer v1.19 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Breast Cancer v1.19 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Breast Cancer. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Autism v0.237 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Autism v0.237 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Autism. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Microcephaly v1.394 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.394 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Lissencephaly and Band Heterotopia v1.29 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Lissencephaly and Band Heterotopia v1.29 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Lissencephaly and Band Heterotopia. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Intellectual disability syndromic and non-syndromic v1.566 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.566 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Fetal anomalies v1.506 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.506 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Cerebral Palsy v1.407 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Cerebral Palsy v1.407 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Cerebral Palsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Callosome v0.581 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Callosome v0.581 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Callosome. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Neurotransmitter Defects v1.8 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.145 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4044 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4043 GCH1 Bryony Thompson Phenotypes for gene: GCH1 were changed from Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Hereditary spastic paraplegia MONDO:0019064, GCH1-related to GTP cyclohydrolase I deficiency MONDO:0100184
Palmoplantar Keratoderma and Erythrokeratoderma v0.140 FAM83G Bryony Thompson Publications for gene: FAM83G were set to PMID: 29138053
Palmoplantar Keratoderma and Erythrokeratoderma v0.139 FAM83G Bryony Thompson Classified gene: FAM83G as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.139 FAM83G Bryony Thompson Gene: fam83g has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.138 Bryony Thompson Added reviews for gene FAM83G from panel Mendeliome
Hair disorders v0.82 Bryony Thompson Copied gene FAM83G from panel Mendeliome
Hair disorders v0.82 FAM83G Bryony Thompson gene: FAM83G was added
gene: FAM83G was added to Hair disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to 41384122; 39449644; 39043225; 29138053
Phenotypes for gene: FAM83G were set to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Mendeliome v1.4042 FAM83G Bryony Thompson Publications for gene: FAM83G were set to 29138053
Mendeliome v1.4041 FAM83G Bryony Thompson Classified gene: FAM83G as Green List (high evidence)
Mendeliome v1.4041 FAM83G Bryony Thompson Gene: fam83g has been classified as Green List (High Evidence).
Mendeliome v1.4040 FAM83G Bryony Thompson reviewed gene: FAM83G: Rating: GREEN; Mode of pathogenicity: None; Publications: 41384122, 39449644, 39043225, 29138053; Phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.96 PMM2 Chirag Patel Marked gene: PMM2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.96 PMM2 Chirag Patel Gene: pmm2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.96 Chirag Patel Copied gene PMM2 from panel Congenital Disorders of Glycosylation
Cerebellar and Pontocerebellar Hypoplasia v1.96 PMM2 Chirag Patel gene: PMM2 was added
gene: PMM2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 21541725
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Congenital Stationary Night Blindness v0.24 Bryony Thompson Copied gene EGFLAM from panel Mendeliome
Congenital Stationary Night Blindness v0.24 EGFLAM Bryony Thompson gene: EGFLAM was added
gene: EGFLAM was added to Congenital Stationary Night Blindness. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFLAM were set to 41343198; 18641643
Phenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related
Mendeliome v1.4040 EGFLAM Bryony Thompson Marked gene: EGFLAM as ready
Mendeliome v1.4040 EGFLAM Bryony Thompson Gene: egflam has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4040 EGFLAM Bryony Thompson Classified gene: EGFLAM as Amber List (moderate evidence)
Mendeliome v1.4040 EGFLAM Bryony Thompson Gene: egflam has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4039 EGFLAM Bryony Thompson gene: EGFLAM was added
gene: EGFLAM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFLAM were set to 41343198; 18641643
Phenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related
Review for gene: EGFLAM was set to AMBER
Added comment: PMID 41343198 reports two individuals from two unrelated Moroccan families with autosomal recessive loss-of-function truncating EGFLAM variants presenting with complete congenital stationary night blindness (cCSNB), characterised by childhood-onset night blindness, high myopia, reduced visual acuity, and an electronegative Schubert-Bornschein ERG pattern. The homozygous frameshift (p.Val522Glufs*18) and nonsense (p.Arg599*) variants cosegregated with disease.
PMID 18641643 Pikachurin null-mutant mice showed improper apposition of the bipolar cell dendritic tips to the photoreceptor ribbon synapses, resulting in alterations in synaptic signal transmission and visual function.
Sources: Literature
Growth failure v1.94 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Growth failure v1.94 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Growth failure v1.94 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092
Intellectual disability syndromic and non-syndromic v1.565 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Intellectual disability syndromic and non-syndromic v1.565 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.565 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092, CDK4-related
Microcephaly v1.393 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Microcephaly v1.393 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.393 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092
Microcephaly v1.392 Zornitza Stark Copied gene CDK4 from panel Mendeliome
Microcephaly v1.392 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Microcephaly. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK4 were set to 40210435
Phenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4038 CDK4 Zornitza Stark Mode of inheritance for gene: CDK4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.564 Zornitza Stark Copied gene CDK4 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.564 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK4 were set to 40210435
Phenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4037 CDK4 Zornitza Stark Classified gene: CDK4 as Green List (high evidence)
Mendeliome v1.4037 CDK4 Zornitza Stark Gene: cdk4 has been classified as Green List (High Evidence).
Growth failure v1.93 Zornitza Stark Copied gene CDK4 from panel Mendeliome
Growth failure v1.93 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Growth failure. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK4 were set to 40210435
Phenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4036 Zornitza Stark Added reviews for gene CDK4 from panel Melanoma
Mendeliome v1.4035 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4034 CDK4 Zornitza Stark Publications for gene: CDK4 were set to
Mendeliome v1.4033 CDK4 Zornitza Stark Mode of inheritance for gene: CDK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4032 CDK4 Zornitza Stark Classified gene: CDK4 as Amber List (moderate evidence)
Mendeliome v1.4032 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4031 CDK4 Zornitza Stark reviewed gene: CDK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 40210435; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.303 ZFHX4 Zornitza Stark Marked gene: ZFHX4 as ready
Clefting disorders v0.303 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Clefting disorders v0.303 ZFHX4 Zornitza Stark Phenotypes for gene: ZFHX4 were changed from intellectual disability; short stature; cleft to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)
Clefting disorders v0.302 ZFHX4 Zornitza Stark Classified gene: ZFHX4 as Green List (high evidence)
Clefting disorders v0.302 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Growth failure v1.92 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Growth failure v1.92 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.563 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Intellectual disability syndromic and non-syndromic v1.563 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Microcephaly v1.391 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Microcephaly v1.391 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Mendeliome v1.4031 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Mendeliome v1.4031 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Microcephaly v1.391 Lucy Spencer Copied gene MAU2 from panel Mendeliome
Microcephaly v1.391 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Microcephaly. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Intellectual disability syndromic and non-syndromic v1.563 Lucy Spencer Copied gene MAU2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.563 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Growth failure v1.92 Lucy Spencer Copied gene MAU2 from panel Mendeliome
Growth failure v1.92 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Growth failure. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Mendeliome v1.4031 MAU2 Lucy Spencer Classified gene: MAU2 as Green List (high evidence)
Mendeliome v1.4031 MAU2 Lucy Spencer Gene: mau2 has been classified as Green List (High Evidence).
Mendeliome v1.4030 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Review for gene: MAU2 was set to GREEN
Added comment: PMID 41332805 report a total of 18 individuals from 15 unrelated families with heterozygous MAU2 variants causing Cornelia de Lange syndrome (1 of these patients was previously reported in PMID: 32433956). The main phenotypes in this cohort were short stature, microcephaly and ID, around half also had a mix of the characteristic CDLS facial features like synophrys, long smooth philtrum, thick eyebrows, thin upper lip vermilion and anteverted nares.

Variants include loss‑of‑function (nonsense, frameshift, splice‑affecting) that cause haploinsufficiency, and missense/in‑frame deletions some of which were shown to disrupt NIPBL‑MAU2 interaction. Most were de novo but several were transmitted from affected parents, and for 5 cases inheritance was unknown. All but one of the missense/inframe deletion variants is absent from gnomad v4, p.Cys50Ser is present with 6 heterozygotes and may not be pathogenic.

PMID: 37962004 has one additional patient with atypical Cornelia de Lange syndrome who has a de novo missense variant, absent from gnomad.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.69 Zornitza Stark Copied gene SMC1B from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.69 SMC1B Zornitza Stark gene: SMC1B was added
gene: SMC1B was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SMC1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMC1B were set to 40180776; 27603904
Phenotypes for gene: SMC1B were set to Infertility disorder, MONDO:0005047, SMC1B-related
Mendeliome v1.4029 SMC1B Zornitza Stark Marked gene: SMC1B as ready
Mendeliome v1.4029 SMC1B Zornitza Stark Gene: smc1b has been classified as Red List (Low Evidence).
Mendeliome v1.4029 SMC1B Zornitza Stark gene: SMC1B was added
gene: SMC1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMC1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMC1B were set to 40180776; 27603904
Phenotypes for gene: SMC1B were set to Infertility disorder, MONDO:0005047, SMC1B-related
Review for gene: SMC1B was set to RED
Added comment: [PMID 27603904] reports 2 individuals from 2 families with heterozygous missense SMC1B variants (p.I221T, p.Q1177L) presenting with primary ovarian insufficiency. [PMID 40180776] reports 1 individual from 1 family with a heterozygous missense p.C619F variant causing severe necrozoospermia; the variant segregates from a carrier mother and functional assays show reduced SMC1B protein, indicating a loss‑of‑function mechanism. All three variants are present in the population, p.Q1177L at an implausibly high frequency.
Sources: Literature
Genetic Epilepsy v1.336 MDN1 Zornitza Stark Marked gene: MDN1 as ready
Genetic Epilepsy v1.336 MDN1 Zornitza Stark Gene: mdn1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.336 Zornitza Stark Copied gene MDN1 from panel Mendeliome
Genetic Epilepsy v1.336 MDN1 Zornitza Stark gene: MDN1 was added
gene: MDN1 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDN1 were set to 40217384
Phenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related
Mendeliome v1.4028 MDN1 Zornitza Stark Marked gene: MDN1 as ready
Mendeliome v1.4028 MDN1 Zornitza Stark Gene: mdn1 has been classified as Red List (Low Evidence).
Mendeliome v1.4028 MDN1 Zornitza Stark gene: MDN1 was added
gene: MDN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDN1 were set to 40217384
Phenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related
Review for gene: MDN1 was set to RED
Added comment: PMID 40217384 reports 5 individuals from 5 unrelated families with biallelic missense or splice-site variants in MDN1 presenting with childhood-onset epilepsy (febrile seizures, febrile seizures plus, and focal epilepsy secondary to brain injury). Variants are rare in gnomAD with no homs. No experimental functional validation was performed and assertions of pathogenicity rely on in-silico assessment, hence RED rating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Tag new gene name tag was added to gene: TMEM251.
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Marked gene: TMEM251 as ready
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Classified gene: TMEM251 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.561 TMEM251 Zornitza Stark gene: TMEM251 was added
gene: TMEM251 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 40171858; 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type MIM@619345
Review for gene: TMEM251 was set to GREEN
Added comment: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.

HGNC approved name is LYSET.
Sources: Literature
Mendeliome v1.4027 PRDM15 Lucy Spencer Phenotypes for gene: PRDM15 were changed from Steroid resistant nephrotic syndrome; Holoprosencephaly to Multiple congenital anomalies MONDO:0019042, PRDM15-related
Arthrogryposis v1.8 TMEM251 Zornitza Stark Marked gene: TMEM251 as ready
Arthrogryposis v1.8 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.560 LMAN2L Lucy Spencer Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 to Intellectual developmental disorder, autosomal dominant 69 MIM#617863; Intellectual developmental disorder, autosomal recessive 52 MIM#616887
Mendeliome v1.4026 LMAN2L Lucy Spencer Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 to Intellectual developmental disorder, autosomal dominant 69 MIM#617863; Intellectual developmental disorder, autosomal recessive 52 MIM#616887
Mendeliome v1.4025 LIPT1 Lucy Spencer Phenotypes for gene: LIPT1 were changed from Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation to Lipoyltransferase 1 deficiency, MIM#616299
Renal Tubulopathies and related disorders v1.24 LCAT Lucy Spencer Phenotypes for gene: LCAT were changed from Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 to Norum disease MIM#245900; Fish-Eye disease, MIM# 136120
Mendeliome v1.4024 LCAT Lucy Spencer Phenotypes for gene: LCAT were changed from Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 to Norum disease MIM#245900; Fish-Eye disease, MIM# 136120
Genetic Epilepsy v1.335 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Cerebellar and Pontocerebellar Hypoplasia v1.95 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Walker Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Congenital Disorders of Glycosylation v1.81 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Cataract v0.534 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Lissencephaly and Band Heterotopia v1.28 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Amelogenesis imperfecta v1.14 LAMC2 Lucy Spencer Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786
Mendeliome v1.4023 LAMC2 Lucy Spencer Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786
Epidermolysis bullosa v1.24 LAMC2 Lucy Spencer Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786
Amelogenesis imperfecta v1.13 LAMB3 Lucy Spencer Phenotypes for gene: LAMB3 were changed from Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700
Mendeliome v1.4022 LAMB3 Lucy Spencer Phenotypes for gene: LAMB3 were changed from Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700
Mendeliome v1.4021 LAMA2 Lucy Spencer Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 to LAMA2-related muscular dystrophy MONDO:0100228; Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Mendeliome v1.4020 LAMA2 Lucy Spencer reviewed gene: LAMA2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2-related muscular dystrophy MONDO:0100228; Mode of inheritance: None
Arthrogryposis v1.8 Zornitza Stark Copied gene TMEM251 from panel Skeletal dysplasia
Arthrogryposis v1.8 TMEM251 Zornitza Stark gene: TMEM251 was added
gene: TMEM251 was added to Arthrogryposis. Sources: Expert Review Green,Literature
new gene name tags were added to gene: TMEM251.
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156; 40171858
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type 619345
Fetal anomalies v1.505 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Intellectual disability syndromic and non-syndromic v1.559 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Overgrowth v1.20 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Mendeliome v1.4020 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Autism v0.236 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Mendeliome v1.4019 TMEM251 Zornitza Stark Tag new gene name tag was added to gene: TMEM251.
Lysosomal Storage Disorder v1.25 TMEM251 Zornitza Stark Marked gene: TMEM251 as ready
Lysosomal Storage Disorder v1.25 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.25 Zornitza Stark Copied gene TMEM251 from panel Skeletal dysplasia
Lysosomal Storage Disorder v1.25 TMEM251 Zornitza Stark gene: TMEM251 was added
gene: TMEM251 was added to Lysosomal Storage Disorder. Sources: Expert Review Green,Literature
new gene name tags were added to gene: TMEM251.
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156; 40171858
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type 619345
Mendeliome v1.4019 TMEM251 Zornitza Stark Publications for gene: TMEM251 were set to 33252156
Mendeliome v1.4018 TMEM251 Zornitza Stark Classified gene: TMEM251 as Green List (high evidence)
Mendeliome v1.4018 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Mendeliome v1.4017 TMEM251 Zornitza Stark edited their review of gene: TMEM251: Added comment: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.

HGNC approved name is LYSET.; Changed rating: GREEN; Changed publications: 40171858
Skeletal dysplasia v0.394 TMEM251 Zornitza Stark changed review comment from: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.; to: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.

HGNC approved name is LYSET.
Skeletal dysplasia v0.394 TMEM251 Zornitza Stark Tag new gene name tag was added to gene: TMEM251.
Skeletal dysplasia v0.394 TMEM251 Zornitza Stark Publications for gene: TMEM251 were set to 33252156
Skeletal dysplasia v0.393 TMEM251 Zornitza Stark edited their review of gene: TMEM251: Changed publications: 40171858
Skeletal dysplasia v0.393 TMEM251 Zornitza Stark Classified gene: TMEM251 as Green List (high evidence)
Skeletal dysplasia v0.393 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.392 TMEM251 Zornitza Stark edited their review of gene: TMEM251: Changed rating: GREEN
Skeletal dysplasia v0.392 TMEM251 Zornitza Stark commented on gene: TMEM251: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.
Mendeliome v1.4017 KLHL7 Lucy Spencer Mode of inheritance for gene: KLHL7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.68 DNALI1 Zornitza Stark Marked gene: DNALI1 as ready
Infertility and Recurrent Pregnancy Loss v1.68 DNALI1 Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.68 Zornitza Stark Copied gene DNALI1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.68 DNALI1 Zornitza Stark gene: DNALI1 was added
gene: DNALI1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DNALI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNALI1 were set to 40298292; 38212584; 36792588; 36726469
Phenotypes for gene: DNALI1 were set to Spermatogenic failure, MONDO:0004983, DNALI1-related
Mendeliome v1.4016 DNALI1 Zornitza Stark Marked gene: DNALI1 as ready
Mendeliome v1.4016 DNALI1 Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence).
Mendeliome v1.4016 DNALI1 Zornitza Stark Classified gene: DNALI1 as Green List (high evidence)
Mendeliome v1.4016 DNALI1 Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence).
Mendeliome v1.4015 DNALI1 Zornitza Stark gene: DNALI1 was added
gene: DNALI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNALI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNALI1 were set to 40298292; 38212584; 36792588; 36726469
Phenotypes for gene: DNALI1 were set to Spermatogenic failure, MONDO:0004983, DNALI1-related
Review for gene: DNALI1 was set to GREEN
Added comment: PMIDs 36726469, 36792588, 38212584 and 40298292 report four unrelated individuals from four families with biallelic loss‑of‑function DNALI1 variants (c.691_693del, c.663_666del, c.464‑1G>A, c.490dup) causing male infertility characterised by severe asthenozoospermia/asthénoteratozoospermia. The variants segregate as autosomal recessive and functional studies—including a mouse knockout recapitulating infertility, TEM showing loss of inner dynein arms, immunofluorescence loss of DNALI1 protein, and a minigene splicing assay demonstrating exon skipping—support loss‑of‑function as the disease mechanism.
Sources: Literature
Incidentalome v0.373 DAGLB Zornitza Stark Marked gene: DAGLB as ready
Incidentalome v0.373 DAGLB Zornitza Stark Gene: daglb has been classified as Green List (High Evidence).
Mendeliome v1.4014 KLHL24 Lucy Spencer Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236 to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236
Epidermolysis bullosa v1.23 KLHL24 Lucy Spencer Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294 to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294
Incidentalome v0.373 Zornitza Stark Copied gene DAGLB from panel Early-onset Parkinson disease
Incidentalome v0.373 DAGLB Zornitza Stark gene: DAGLB was added
gene: DAGLB was added to Incidentalome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DAGLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAGLB were set to 35715418; 40244389
Phenotypes for gene: DAGLB were set to Parkinson disease, MONDO:0005180, DALGB-related
Early-onset Parkinson disease v2.47 DAGLB Zornitza Stark Marked gene: DAGLB as ready
Early-onset Parkinson disease v2.47 DAGLB Zornitza Stark Gene: daglb has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.47 DAGLB Zornitza Stark Phenotypes for gene: DAGLB were changed from to Parkinson disease, MONDO:0005180, DALGB-related
Early-onset Parkinson disease v2.46 DAGLB Zornitza Stark edited their review of gene: DAGLB: Changed phenotypes: Parkinson disease, MONDO:0005180, DALGB-related
Early-onset Parkinson disease v2.46 DAGLB Zornitza Stark Classified gene: DAGLB as Green List (high evidence)
Early-onset Parkinson disease v2.46 DAGLB Zornitza Stark Gene: daglb has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.45 DAGLB Zornitza Stark gene: DAGLB was added
gene: DAGLB was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: DAGLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAGLB were set to 35715418; 40244389
Review for gene: DAGLB was set to GREEN
Added comment: PMID 35715418 reports 6 individuals from 4 families and PMID 40244389 reports 3 individuals from 3 families, together comprising 9 individuals from 7 unrelated families with biallelic loss-of-function DAGLB variants causing early‑onset Parkinsonism (onset 27‑52 years) characterized by resting tremor, bradykinesia, rigidity, postural instability and good levodopa response. Functional studies (Western blot loss of DAGLB protein, CRISPR‑SaCas9 knock‑down in mouse nigral dopaminergic neurons reducing 2‑AG levels, and rescue of motor deficits by MAGL inhibition) support loss‑of‑function as the disease mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.558 KLF7 Lucy Spencer Phenotypes for gene: KLF7 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO:0700092), KLF7-related
Mendeliome v1.4013 KLF7 Lucy Spencer Phenotypes for gene: KLF7 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO:0700092), KLF7-related
Hypertrophic cardiomyopathy v1.21 KLF10 Lucy Spencer Phenotypes for gene: KLF10 were changed from HCM to Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related
Mendeliome v1.4012 KLF10 Lucy Spencer Phenotypes for gene: KLF10 were changed from HCM to Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related
Hereditary Spastic Paraplegia v1.135 KLC4 Lucy Spencer Phenotypes for gene: KLC4 were changed from spastic paraplegia; progressive complicated spastic paraplegia to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129
Mendeliome v1.4011 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mendeliome v1.4010 KLC4 Lucy Spencer Phenotypes for gene: KLC4 were changed from Complicated hereditary spastic paraplegia to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129
Mendeliome v1.4009 ATP5B Zornitza Stark Publications for gene: ATP5B were set to 36860166; 36239646
Mendeliome v1.4008 ATP5B Zornitza Stark edited their review of gene: ATP5B: Added comment: PMID 40276935 reports another individual with a heterozygous splice‑donor variant c.1074+1G>T causing cerebral palsy with generalized dystonia.; Changed publications: 36860166, 36239646, 40276935; Changed phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.8 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Hypogonadotropic hypogonadism v0.78 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Pituitary hormone deficiency v0.171 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Differences of Sex Development v1.33 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Mitochondrial disease v1.7 ATP5B Zornitza Stark Publications for gene: ATP5B were set to 36860166; 36239646
Mitochondrial disease v1.6 ATP5B Zornitza Stark edited their review of gene: ATP5B: Added comment: PMID 40276935 reports another individual with a heterozygous splice‑donor variant c.1074+1G>T causing cerebral palsy with generalized dystonia.; Changed publications: 36860166, 36239646, 40276935
Mendeliome v1.4008 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Mitochondrial disease v1.6 ATP5B Zornitza Stark edited their review of gene: ATP5B: Changed phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mendeliome v1.4007 KIRREL3 Lucy Spencer Phenotypes for gene: KIRREL3 were changed from Intellectual disability to Intellectual disability MONDO:0001071, KIRREL3-related
Mendeliome v1.4006 KIF5B Lucy Spencer Phenotypes for gene: KIF5B were changed from osteogenesis imperfecta, MONDO:0019019; Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia to osteogenesis imperfecta, MONDO:0019019, KIF5B-related; Skeletal dysplasia, MONDO:0018230, KIF5B-related
Clefting disorders v0.301 ZFHX4 Boris Keren gene: ZFHX4 was added
gene: ZFHX4 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to PMID: 40367947
Phenotypes for gene: ZFHX4 were set to intellectual disability; short stature; cleft
Penetrance for gene: ZFHX4 were set to Incomplete
Review for gene: ZFHX4 was set to GREEN
gene: ZFHX4 was marked as current diagnostic
Added comment: New series with 57 probands with neurodevelopmental disorders and ZFHX4 pathogenic variants, mostly LoF and de novo.
Some patients have cleft palate.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.557 ZFHX4 Boris Keren reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40367947; Phenotypes: intellectual disability, short stature, cleft; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v2.6 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v2.5 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v2.5 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v2.5 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v1.23 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.67 SPIDR Zornitza Stark Marked gene: SPIDR as ready
Infertility and Recurrent Pregnancy Loss v1.67 SPIDR Zornitza Stark Gene: spidr has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.67 Zornitza Stark Copied gene SPIDR from panel Primary Ovarian Insufficiency_Premature Ovarian Failure
Infertility and Recurrent Pregnancy Loss v1.67 SPIDR Zornitza Stark gene: SPIDR was added
gene: SPIDR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPIDR were set to 34794894; 34697795; 27967308; 41393291
Phenotypes for gene: SPIDR were set to Ovarian dysgenesis 9, MIM# 619665
Mendeliome v1.4005 GCM2 Chirag Patel Phenotypes for gene: GCM2 were changed from Hyperparathyroidism 4, OMIM #617343 to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Mendeliome v1.4004 GCM2 Chirag Patel Publications for gene: GCM2 were set to 27745835
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 SPIDR Zornitza Stark Publications for gene: SPIDR were set to 34794894; 34697795; 27967308
Mendeliome v1.4003 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.392 SPIDR Zornitza Stark edited their review of gene: SPIDR: Added comment: PMID 41393291: A single individual (P25) from a large cohort carries a homozygous in‑frame deletion p.Cys310_Glu313del in SPIDR, associated with POI. Segregation confirms carrier status. Variant is a VOUS however.; Changed publications: 41393291
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Marked gene: CFAP43 as ready
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Deleted their comment
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Deleted their comment
Infertility and Recurrent Pregnancy Loss v1.66 Zornitza Stark Copied gene CFAP43 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark gene: CFAP43 was added
gene: CFAP43 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CFAP43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to 31884020; 31004071; 29449551; 28552195; 29277146; 29449551; 34089056; 34100391; 34529793; 36960497; 38745955; 40376536; 41341611
Phenotypes for gene: CFAP43 were set to Spermatogenic failure 19 MONDO:0054723
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark Deleted their comment
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark changed review comment from: DISPUTED by ClinGen for biallelic PCD.

LIMITED for association with hydrocephalus.; to: DISPUTED by ClinGen for biallelic PCD.

LIMITED for association with hydrocephalus.

DEFINITIVE for association with infertility only, hence Green on the relevant panel.
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark Classified gene: CFAP43 as Red List (low evidence)
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v1.69 CFAP43 Zornitza Stark changed review comment from: DISPUTED by ClinGen for biallelic disease.; to: DISPUTED by ClinGen for biallelic PCD.

LIMITED for association with hydrocephalus.
Ciliary Dyskinesia v1.69 CFAP43 Zornitza Stark edited their review of gene: CFAP43: Changed rating: RED
Mendeliome v1.4002 CFAP43 Zornitza Stark Phenotypes for gene: CFAP43 were changed from Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592 to Spermatogenic failure 19 MONDO:0054723
Mendeliome v1.4001 CFAP43 Zornitza Stark Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551
Mendeliome v1.4000 CFAP43 Zornitza Stark Mode of inheritance for gene: CFAP43 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3999 CFAP43 Zornitza Stark Classified gene: CFAP43 as Green List (high evidence)
Mendeliome v1.3999 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Mendeliome v1.3998 CFAP43 Zornitza Stark changed review comment from: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.

DEFINITIVE by ClinGen for this association.

Note association with PCD is DISPUTED.

Weak evidence for association with hydrocephalus.; to: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.

DEFINITIVE by ClinGen for this association.

Note association with PCD is DISPUTED.

LIMITED for association with hydrocephalus.
Mendeliome v1.3998 CFAP43 Zornitza Stark edited their review of gene: CFAP43: Added comment: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.

DEFINITIVE by ClinGen for this association.

Note association with PCD is DISPUTED.

Weak evidence for association with hydrocephalus.; Changed rating: GREEN; Changed publications: 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611; Changed phenotypes: Spermatogenic failure 19 MONDO:0054723
Liver Failure_Paediatric v1.33 IL18BP Zornitza Stark Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549
Liver Failure_Paediatric v1.32 IL18BP Zornitza Stark Publications for gene: IL18BP were set to 31213488
Liver Failure_Paediatric v1.31 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Liver Failure_Paediatric v1.31 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v1.30 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 31213488, 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Susceptibility to Viral Infections v1.7 IL18BP Zornitza Stark Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549
Susceptibility to Viral Infections v1.6 IL18BP Zornitza Stark Publications for gene: IL18BP were set to 31213488
Susceptibility to Viral Infections v1.5 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Susceptibility to Viral Infections v1.5 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v1.4 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 31213488, 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Defects of intrinsic and innate immunity v1.28 IL18BP Zornitza Stark Marked gene: IL18BP as ready
Defects of intrinsic and innate immunity v1.28 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.28 IL18BP Zornitza Stark Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549
Familial hypoparathyroidism v1.10 GCM2 Chirag Patel Phenotypes for gene: GCM2 were changed from Familial isolated hyperparathyroidism MONDO:0015027 to Hypoparathyroidism, familial isolated 2, OMIM #618883
Defects of intrinsic and innate immunity v1.27 IL18BP Zornitza Stark Publications for gene: IL18BP were set to 31213488
Familial hypoparathyroidism v1.9 GCM2 Chirag Patel Publications for gene: GCM2 were set to 27745835
Familial hypoparathyroidism v1.8 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3998 GCM2 Chirag Patel reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745835, 35038313, 20190276; Phenotypes: Hyperparathyroidism 4, OMIM #617343, Hypoparathyroidism, familial isolated 2, OMIM #618883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial hypoparathyroidism v1.7 GCM2 Chirag Patel reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35038313, 20190276; Phenotypes: Hypoparathyroidism, familial isolated 2, OMIM #618883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v1.26 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v1.26 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.25 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 41334112, 31213488; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Mendeliome v1.3998 IL18BP Zornitza Stark changed review comment from: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; to: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.
Mendeliome v1.3998 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Mendeliome v1.3998 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3997 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; Changed rating: AMBER; Changed publications: 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Intellectual disability syndromic and non-syndromic v1.557 NOP58 Zornitza Stark Marked gene: NOP58 as ready
Intellectual disability syndromic and non-syndromic v1.557 NOP58 Zornitza Stark Gene: nop58 has been classified as Red List (Low Evidence).
Microcephaly v1.390 NOP58 Zornitza Stark Marked gene: NOP58 as ready
Microcephaly v1.390 NOP58 Zornitza Stark Gene: nop58 has been classified as Red List (Low Evidence).
Microcephaly v1.390 Zornitza Stark Copied gene NOP58 from panel Mendeliome
Microcephaly v1.390 NOP58 Zornitza Stark gene: NOP58 was added
gene: NOP58 was added to Microcephaly. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP58 were set to 41383020
Phenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related
Intellectual disability syndromic and non-syndromic v1.557 Zornitza Stark Copied gene NOP58 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.557 NOP58 Zornitza Stark gene: NOP58 was added
gene: NOP58 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP58 were set to 41383020
Phenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related
Mendeliome v1.3997 NOP58 Zornitza Stark Marked gene: NOP58 as ready
Mendeliome v1.3997 NOP58 Zornitza Stark Gene: nop58 has been classified as Red List (Low Evidence).
Mendeliome v1.3997 NOP58 Zornitza Stark gene: NOP58 was added
gene: NOP58 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP58 were set to 41383020
Phenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related
Review for gene: NOP58 was set to RED
Added comment: PMID 41383020 reports a single individual with homozygous hypomorphic loss‑of‑function synonymous variant c.516G>A in NOP58 presenting with severe neurodevelopmental disorder characterized by global developmental delay, microcephaly, early‑onset seizures, facial dysmorphism, and brain structural anomalies. Functional studies in patient fibroblasts demonstrated exon 7 skipping, ~12 % residual NOP58 protein, reduced fibrillarin, altered nucleolar morphology, decreased box C/D snoRNAs, and impaired pre‑rRNA maturation.
Sources: Literature
Corneal Dystrophy v1.20 PRDX3 Zornitza Stark Marked gene: PRDX3 as ready
Corneal Dystrophy v1.20 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Corneal Dystrophy v1.20 PRDX3 Zornitza Stark Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia MONDO:0000437, PRDX3-related to Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871
Corneal Dystrophy v1.19 PRDX3 Zornitza Stark Publications for gene: PRDX3 were set to PMID: 33889951
Corneal Dystrophy v1.18 PRDX3 Zornitza Stark Mode of inheritance for gene: PRDX3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3996 PRDX3 Zornitza Stark Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia MONDO:0000437, PRDX3-related to Cerebellar ataxia MONDO:0000437, PRDX3-related; Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871
Mendeliome v1.3995 PRDX3 Zornitza Stark Publications for gene: PRDX3 were set to PMID: 33889951
Corneal Dystrophy v1.17 Zornitza Stark Copied gene PRDX3 from panel Mendeliome
Corneal Dystrophy v1.17 PRDX3 Zornitza Stark gene: PRDX3 was added
gene: PRDX3 was added to Corneal Dystrophy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to PMID: 33889951
Phenotypes for gene: PRDX3 were set to Cerebellar ataxia MONDO:0000437, PRDX3-related
Penetrance for gene: PRDX3 were set to unknown
Mendeliome v1.3994 PRDX3 Zornitza Stark Mode of inheritance for gene: PRDX3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3993 PRDX3 Zornitza Stark reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31782998, 34369396; Phenotypes: Corneal dystrophy, punctiform and polychromatic pre-Descemet 619871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.52 Chirag Patel Panel status changed from retired to public
Skeletal dysplasia v0.392 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital
Skeletal dysplasia v0.391 MTAP Chirag Patel reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.391 FAM20B Chirag Patel Classified gene: FAM20B as Green List (high evidence)
Skeletal dysplasia v0.391 FAM20B Chirag Patel Gene: fam20b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.390 SRP54 Chirag Patel Classified gene: SRP54 as Red List (low evidence)
Skeletal dysplasia v0.390 SRP54 Chirag Patel Gene: srp54 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.389 SRP54 Chirag Patel reviewed gene: SRP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.389 SEMA3A Chirag Patel Classified gene: SEMA3A as Red List (low evidence)
Skeletal dysplasia v0.389 SEMA3A Chirag Patel Gene: sema3a has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.388 SEMA3A Chirag Patel reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.388 DSPP Chirag Patel Classified gene: DSPP as Red List (low evidence)
Skeletal dysplasia v0.388 DSPP Chirag Patel Gene: dspp has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.387 DSPP Chirag Patel reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.3993 SLC25A4 Sangavi Sivagnanasundram Added comment: Comment on publications: Addition of AD publications
Mendeliome v1.3993 SLC25A4 Sangavi Sivagnanasundram Publications for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815
Mendeliome v1.3992 SLC25A4 Sangavi Sivagnanasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21519523, 27693233; Phenotypes: Leigh syndrome MONDO:0009723, autosomal dominant progressive external ophthalmoplegia MONDO:0008003; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.387 VPS33A Chirag Patel Marked gene: VPS33A as ready
Skeletal dysplasia v0.387 VPS33A Chirag Patel Gene: vps33a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.387 SLC35B2 Chirag Patel Marked gene: SLC35B2 as ready
Skeletal dysplasia v0.387 SLC35B2 Chirag Patel Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 PDIA6 Chirag Patel Marked gene: PDIA6 as ready
Skeletal dysplasia v0.387 PDIA6 Chirag Patel Gene: pdia6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.387 FGF4 Chirag Patel Marked gene: FGF4 as ready
Skeletal dysplasia v0.387 FGF4 Chirag Patel Gene: fgf4 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 LRRC8C Chirag Patel Marked gene: LRRC8C as ready
Skeletal dysplasia v0.387 LRRC8C Chirag Patel Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 C16orf62 Chirag Patel Marked gene: C16orf62 as ready
Skeletal dysplasia v0.387 C16orf62 Chirag Patel Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 WBP11 Chirag Patel Marked gene: WBP11 as ready
Skeletal dysplasia v0.387 WBP11 Chirag Patel Gene: wbp11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Marked gene: NMNAT1 as ready
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Classified gene: NMNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Classified gene: NMNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Classified gene: NMNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 Chirag Patel Copied gene VPS33A from panel Mendeliome
Skeletal dysplasia v0.387 VPS33A Chirag Patel gene: VPS33A was added
gene: VPS33A was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33A were set to 28013294; 27547915; 31936524; 36153662
Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome (MIM#617303)
Skeletal dysplasia v0.386 Chirag Patel Copied gene SLC35B2 from panel Mendeliome
Skeletal dysplasia v0.386 SLC35B2 Chirag Patel gene: SLC35B2 was added
gene: SLC35B2 was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35B2 were set to PMID: 35325049
Phenotypes for gene: SLC35B2 were set to Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269
Skeletal dysplasia v0.385 Chirag Patel Copied gene PDIA6 from panel Mendeliome
Skeletal dysplasia v0.385 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Skeletal dysplasia. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 40974269; 35856135; 33495992
Phenotypes for gene: PDIA6 were set to multiple congenital anomalies, MONDO:0019042, PDIA6-related
Skeletal dysplasia v0.384 NMNAT1 Chirag Patel gene: NMNAT1 was added
gene: NMNAT1 was added to Skeletal dysplasia. Sources: Expert List
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 32533184, 33668384
Phenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Review for gene: NMNAT1 was set to AMBER
Added comment: 3 families reported, but 2 are distantly related (shared haplotype). Clinical presentation was severe spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA).

The affected children in the 2 related families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant. mRNA expression assays detected aberrant alternative transcripts and unbalanced levels of expression.
Sources: Expert List
Skeletal dysplasia v0.383 Chirag Patel Copied gene FGF4 from panel Mendeliome
Skeletal dysplasia v0.383 FGF4 Chirag Patel gene: FGF4 was added
gene: FGF4 was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF4 were set to 40259859
Phenotypes for gene: FGF4 were set to Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260
Skeletal dysplasia v0.383 Chirag Patel Copied gene LRRC8C from panel Mendeliome
Skeletal dysplasia v0.383 LRRC8C Chirag Patel gene: LRRC8C was added
gene: LRRC8C was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056
Mode of pathogenicity for gene: LRRC8C was set to Other
Lymphoedema_syndromic v0.14 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Lymphoedema_syndromic v0.14 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Lymphoedema_syndromic v0.14 UNC45A Zornitza Stark Publications for gene: UNC45A were set to 29429573
Mendeliome v1.3992 UNC45A Zornitza Stark Tag 5'UTR tag was added to gene: UNC45A.
Mendeliome v1.3992 UNC45A Zornitza Stark Publications for gene: UNC45A were set to 29429573; 35575086; 36699472; 37328071, 39887522; 40125554; 40129845; 32013205
Mendeliome v1.3991 UNC45A Zornitza Stark Publications for gene: UNC45A were set to 29429573
Mendeliome v1.3990 UNC45A Zornitza Stark edited their review of gene: UNC45A: Added comment: PMIDs 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 add 33 unrelated families to the previously reviewed three families, bringing the total to 37 unrelated families. Eleven families present with osteo‑oto‑hepato‑enteric (O2HE) syndrome (neonatal cholestasis, intractable diarrhea, bone fragility, sensorineural hearing loss) and carry loss‑of‑function or protein‑unstable missense variants. Functional validation (Western blot, zebrafish morpholino knock‑down, rescue experiments, CRISPR‑KO in Caco‑2/U2OS cells) demonstrates pathogenicity. Twenty‑five families have Aagenaes syndrome (lymphedema‑cholestasis syndrome) caused by a recurrent 5′‑UTR regulatory variant (c.-98G>T) plus loss‑of‑function exonic alleles, with reduced UNC45A expression confirmed in patient blood and CRISPR‑edited cells.; Changed publications: 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205
Lymphoedema_syndromic v0.13 Zornitza Stark Copied gene UNC45A from panel Cholestasis
Lymphoedema_syndromic v0.13 UNC45A Zornitza Stark gene: UNC45A was added
gene: UNC45A was added to Lymphoedema_syndromic. Sources: Expert Review Green,Victorian Clinical Genetics Services
5'UTR tags were added to gene: UNC45A.
Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45A were set to 29429573
Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Skeletal dysplasia v0.382 Chirag Patel Copied gene C16orf62 from panel Chondrodysplasia Punctata
Skeletal dysplasia v0.382 C16orf62 Chirag Patel gene: C16orf62 was added
gene: C16orf62 was added to Skeletal dysplasia. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475; 31712251
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Cholestasis v1.5 UNC45A Zornitza Stark Tag 5'UTR tag was added to gene: UNC45A.
Cholestasis v1.5 UNC45A Zornitza Stark edited their review of gene: UNC45A: Added comment: PMIDs 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 add 33 unrelated families to the previously reviewed three families, bringing the total to 37 unrelated families. Eleven families present with osteo‑oto‑hepato‑enteric (O2HE) syndrome (neonatal cholestasis, intractable diarrhea, bone fragility, sensorineural hearing loss) and carry loss‑of‑function or protein‑unstable missense variants. Functional validation (Western blot, zebrafish morpholino knock‑down, rescue experiments, CRISPR‑KO in Caco‑2/U2OS cells) demonstrates pathogenicity. Twenty‑five families have Aagenaes syndrome (lymphedema‑cholestasis syndrome) caused by a recurrent 5′‑UTR regulatory variant (c.-98G>T) plus loss‑of‑function exonic alleles, with reduced UNC45A expression confirmed in patient blood and CRISPR‑edited cells.; Changed publications: 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205
Skeletal dysplasia v0.381 Chirag Patel Copied gene WBP11 from panel Mendeliome
Skeletal dysplasia v0.381 WBP11 Chirag Patel gene: WBP11 was added
gene: WBP11 was added to Skeletal dysplasia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Skeletal dysplasia v0.380 NXN Chirag Patel Marked gene: NXN as ready
Skeletal dysplasia v0.380 NXN Chirag Patel Gene: nxn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.380 Chirag Patel Copied gene NXN from panel Mendeliome
Skeletal dysplasia v0.380 NXN Chirag Patel gene: NXN was added
gene: NXN was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NXN were set to 29276006
Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 618529
Skeletal dysplasia v0.379 MYO18B Chirag Patel Marked gene: MYO18B as ready
Skeletal dysplasia v0.379 MYO18B Chirag Patel Gene: myo18b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.379 Chirag Patel Copied gene MYO18B from panel Mendeliome
Skeletal dysplasia v0.379 MYO18B Chirag Patel gene: MYO18B was added
gene: MYO18B was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 25748484; 27858739; 32637634; 32184166; 27879346
Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549
Skeletal dysplasia v0.378 ARCN1 Chirag Patel Marked gene: ARCN1 as ready
Skeletal dysplasia v0.378 ARCN1 Chirag Patel Gene: arcn1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.378 DVL2 Chirag Patel Marked gene: DVL2 as ready
Skeletal dysplasia v0.378 DVL2 Chirag Patel Gene: dvl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3990 Chirag Patel Copied gene KIF24 from panel Skeletal dysplasia
Mendeliome v1.3990 KIF24 Chirag Patel gene: KIF24 was added
gene: KIF24 was added to Mendeliome. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF24 were set to 35748595
Phenotypes for gene: KIF24 were set to Skeletal dysplasia MONDO:0018230, KIF24 related
Skeletal dysplasia v0.378 KIF24 Chirag Patel Marked gene: KIF24 as ready
Skeletal dysplasia v0.378 KIF24 Chirag Patel Gene: kif24 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.378 KIF24 Chirag Patel Classified gene: KIF24 as Green List (high evidence)
Skeletal dysplasia v0.378 KIF24 Chirag Patel Gene: kif24 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.377 KIF24 Chirag Patel gene: KIF24 was added
gene: KIF24 was added to Skeletal dysplasia. Sources: Genomics England PanelApp
Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF24 were set to 35748595
Phenotypes for gene: KIF24 were set to Skeletal dysplasia MONDO:0018230, KIF24 related
Review for gene: KIF24 was set to GREEN
Added comment: 6 individuals from 3 unrelated families affected by a spectrum of skeletal abnormalities ranging from a lethal fetal skeletal ciliopathy to acromesomelic skeletal dysplasia and a less severe spondylometaphyseal dysplasia. All individuals had different biallelic missense variants in KIF24 which segregated with the phenotype. In vitro studies showed that ciliogenesis and cytokinesis were severely affected in amnioblasts of one affected fetus.
Sources: Genomics England PanelApp
Differences of Sex Development v1.32 STAR Zornitza Stark edited their review of gene: STAR: Added comment: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype.; Changed publications: 7892608, 8634702, 33966472
Mendeliome v1.3989 SCN1A Zornitza Stark Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894; 29543227
Skeletal dysplasia v0.376 Chirag Patel Copied gene DVL2 from panel Mendeliome
Skeletal dysplasia v0.376 DVL2 Chirag Patel gene: DVL2 was added
gene: DVL2 was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL2 were set to 35047859; 33599851; 30521570
Phenotypes for gene: DVL2 were set to Robinow syndrome MONDO:0019978
Mendeliome v1.3988 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3987 SCN1A Zornitza Stark edited their review of gene: SCN1A: Added comment: PMID 40120363 reviews 16 published cases with biallelic variants and reports another 2: 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3-19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.; Changed publications: 29543227, 40120363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.334 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.333 SCN1A Zornitza Stark edited their review of gene: SCN1A: Added comment: PMID 40120363 reviews 16 published cases with biallelic variants and reports another 2: 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3-19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.; Changed publications: 40120363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.375 Chirag Patel Copied gene ARCN1 from panel Mendeliome
Skeletal dysplasia v0.375 ARCN1 Chirag Patel gene: ARCN1 was added
gene: ARCN1 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARCN1 were set to 27476655; 33154040
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Cardiomyopathy_Paediatric v0.215 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740
Cardiomyopathy_Paediatric v0.214 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to 194200; 37013823; 30681346
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark edited their review of gene: PRKAG2: Changed publications: 37013823, 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM to Cardiomyopathy, hypertrophic 6, MIM# 600858
Cardiomyopathy_Paediatric v0.212 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to 194200
Cardiomyopathy_Paediatric v0.211 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.210 PRKAG2 Zornitza Stark changed review comment from: Can present in adulthood with isolated HCM.; to: Monoallelic variants can present in adulthood with isolated HCM.
Cardiomyopathy_Paediatric v0.210 PRKAG2 Zornitza Stark edited their review of gene: PRKAG2: Added comment: PMID 37013823 reports 3 infants from 2 unrelated families with biallelic truncating PRKAG2 variants presenting with severe neonatal dilated cardiomyopathy, rapid progression to cardiogenic shock and death. Homozygous p.Ile550Asnfs*58 identified in siblings; a 2504 bp exon 11 deletion causing frameshift identified in a third infant. Parents heterozygous and asymptomatic. Zebrafish double knockout model recapitulates reduced ejection fraction, ventricular thickening and atrial fibrillation, supporting loss‑of‑function disease mechanism.; Changed publications: 37013823; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3987 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to 30612693
Mendeliome v1.3986 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Added comment: PMID 37462082 reports single individual with compound het variants and a severe congenital hypotonia.; Changed publications: 30612693, 30945334, 37462082
Intellectual disability syndromic and non-syndromic v1.556 EMC10 Zornitza Stark Publications for gene: EMC10 were set to PMID: 32869858; 33531666
Intellectual disability syndromic and non-syndromic v1.555 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 33531666, 35684946, 37318954, 40150819
Mendeliome v1.3986 EMC10 Zornitza Stark Publications for gene: EMC10 were set to 32869858
Mendeliome v1.3985 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 32869858, 33531666, 35684946, 37318954, 40150819
Genetic Epilepsy v1.333 EMC10 Zornitza Stark Publications for gene: EMC10 were set to 32869858; 33531666
Genetic Epilepsy v1.332 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 32869858, 33531666, 35684946, 37318954, 40150819
Genetic Epilepsy v1.332 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Genetic Epilepsy v1.331 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Mendeliome v1.3985 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Mendeliome v1.3984 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Ataxia v1.186 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456
Ataxia v1.185 UNC13A Zornitza Stark Mode of pathogenicity for gene: UNC13A was changed from to Other
Ataxia v1.184 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456
Intellectual disability syndromic and non-syndromic v1.555 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Intellectual disability syndromic and non-syndromic v1.554 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.331 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.330 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3984 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3983 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Ataxia v1.184 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Ataxia v1.184 UNC13A Zornitza Stark Gene: unc13a has been classified as Green List (High Evidence).
Ataxia v1.184 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to neurodevelopmental disorder MONDO#0700092, UNC13A-related
Ataxia v1.183 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v1.182 UNC13A Zornitza Stark changed review comment from: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.

A second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

Also a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.

Three different types of mechanism of pathogenicity proposed.; to: PMID 41125872 reports 13 patients (21 months to 32 years old) with pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

GoF proposed.
Ataxia v1.182 UNC13A Zornitza Stark Deleted their comment
Ataxia v1.182 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed mode of pathogenicity: Other
Ataxia v1.182 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v1.182 Zornitza Stark Copied gene UNC13A from panel Mendeliome
Ataxia v1.182 UNC13A Zornitza Stark gene: UNC13A was added
gene: UNC13A was added to Ataxia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 27648472; 28192369; 41125872
Phenotypes for gene: UNC13A were set to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.330 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.329 UNC13A Zornitza Stark Publications for gene: UNC13A were set to 28192369
Genetic Epilepsy v1.328 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.554 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Intellectual disability syndromic and non-syndromic v1.553 UNC13A Zornitza Stark Publications for gene: UNC13A were set to 27648472; 28192369
Intellectual disability syndromic and non-syndromic v1.552 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed publications: 27648472, 28192369, 41125872
Genetic Epilepsy v1.327 Zornitza Stark Added reviews for gene UNC13A from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.552 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v1.552 UNC13A Zornitza Stark edited their review of gene: UNC13A: Added comment: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.

A second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

Also a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.

Three different types of mechanism of pathogenicity proposed.; Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3983 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3982 UNC13A Zornitza Stark Publications for gene: UNC13A were set to 27648472; 28192369
Mendeliome v1.3981 UNC13A Zornitza Stark edited their review of gene: UNC13A: Added comment: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.

A second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

Also a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.

Three different types of mechanism of pathogenicity proposed.; Changed rating: GREEN; Changed publications: 27648472, 28192369, 41125872; Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Intellectual disability syndromic and non-syndromic v1.552 Chirag Patel Copied gene WDR83 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.552 WDR83 Chirag Patel gene: WDR83 was added
gene: WDR83 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR83 were set to 41381792
Phenotypes for gene: WDR83 were set to Neurodevelopmental disorder, MONDO:0700092, WDR83-related
Mode of pathogenicity for gene: WDR83 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v1.3981 WDR83 Chirag Patel gene: WDR83 was added
gene: WDR83 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR83 were set to 41381792
Phenotypes for gene: WDR83 were set to Neurodevelopmental disorder, MONDO:0700092, WDR83-related
Mode of pathogenicity for gene: WDR83 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: WDR83 was set to RED
Added comment: 1 individual from 1 unrelated family with a de novo heterozygous missense variant (p.L218P) in WDR83 gene. Clinical presentation of a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, growth retardation and dysmorphic facial features. WDR83 encodes a WD‑repeat scaffold protein (MORG1) that regulates MAPK/ERK signalling, HIF‑1α degradation, cell polarity and autophagy.

In vivo, acute expression via in utero electroporation promoted premature cell cycle exit of neural stem cells, impaired cortical neuron migration, and disrupted dendritic arborization, whereas axonal projections to the contralateral hemisphere remained unaffected. Cortical neurons expressing WDR83-L218P exhibited reduced spine head diameter. In vitro, WDR83-L218P expression inhibited axon elongation in primary cultured hippocampal neurons. The variant is suspected to exert a dominant-negative effect.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.65 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Infertility and Recurrent Pregnancy Loss v1.65 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.65 Zornitza Stark Copied gene DNAH9 from panel Ciliary Dyskinesia
Infertility and Recurrent Pregnancy Loss v1.65 DNAH9 Zornitza Stark gene: DNAH9 was added
gene: DNAH9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718; 33610189; 39523437; 38884051
Phenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40, MIM# 618300
Ciliary Dyskinesia v1.69 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to 30471717; 30471718
Ciliary Dyskinesia v1.68 DNAH9 Zornitza Stark edited their review of gene: DNAH9: Added comment: Many families with classic respiratory disease and laterality defects, but also 5 families with severe asthenozoospermia.; Changed publications: 30471717, 30471718, 33610189, 39523437, 38884051
Skeletal dysplasia v0.374 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Skeletal dysplasia v0.374 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.374 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to
Skeletal dysplasia v0.373 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.372 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755234; Phenotypes: spondyloepiphyseal dysplasia congenita MONDO:0008471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3980 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia to Type 2 collagenopathy MONDO:0022800
Mendeliome v1.3979 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to 15895462; 17721977; 27234559; 20179744
Mendeliome v1.3978 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3977 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755234; Phenotypes: spondyloepiphyseal dysplasia congenita MONDO:0008471; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.551 NDUFB7 Zornitza Stark Marked gene: NDUFB7 as ready
Intellectual disability syndromic and non-syndromic v1.551 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.551 Zornitza Stark Copied gene NDUFB7 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.551 NDUFB7 Zornitza Stark gene: NDUFB7 was added
gene: NDUFB7 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371; 40025060
Phenotypes for gene: NDUFB7 were set to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Mitochondrial disease v1.6 NDUFB7 Zornitza Stark Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Mitochondrial disease v1.5 NDUFB7 Zornitza Stark Publications for gene: NDUFB7 were set to 33502047; 27626371
Mitochondrial disease v1.4 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Green List (high evidence)
Mitochondrial disease v1.4 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence).
Mitochondrial disease v1.3 NDUFB7 Zornitza Stark edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate. Two families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN; Changed publications: 40025060
Mendeliome v1.3977 NDUFB7 Zornitza Stark Publications for gene: NDUFB7 were set to 33502047; 27626371
Mendeliome v1.3976 NDUFB7 Zornitza Stark edited their review of gene: NDUFB7: Changed publications: 40025060
Mendeliome v1.3976 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Green List (high evidence)
Mendeliome v1.3976 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence).
Mendeliome v1.3975 NDUFB7 Zornitza Stark edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate.

Two families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN
Fetal anomalies v1.504 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Fetal anomalies v1.504 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Fetal anomalies v1.503 FIBP Zornitza Stark reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40099975, 37876348, 36919607, 27183861, 26660953; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.550 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Intellectual disability syndromic and non-syndromic v1.549 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.549 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.548 FIBP Zornitza Stark edited their review of gene: FIBP: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v1.548 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Overgrowth v1.19 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Overgrowth v1.18 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Overgrowth v1.18 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Overgrowth v1.17 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Macrocephaly_Megalencephaly v0.160 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Macrocephaly_Megalencephaly v0.159 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Macrocephaly_Megalencephaly v0.159 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.158 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Mendeliome v1.3975 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Mendeliome v1.3975 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Mendeliome v1.3974 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Mendeliome v1.3974 DPH2 Zornitza Stark Classified gene: DPH2 as Green List (high evidence)
Mendeliome v1.3974 DPH2 Zornitza Stark Gene: dph2 has been classified as Green List (High Evidence).
Mendeliome v1.3973 DPH2 Zornitza Stark edited their review of gene: DPH2: Added comment: Third family reported with biallelic LoF variant c.1429C>T (p.Arg477*) presenting with developmental delay, proportionate short stature, sparse hair, dysmorphic facial features, hypotonia, seizures, neuroimaging abnormalities, and behavioural issues.; Changed rating: GREEN; Changed publications: 40130534
Intellectual disability syndromic and non-syndromic v1.548 DPH2 Zornitza Stark Publications for gene: DPH2 were set to 32576952; 27421267
Intellectual disability syndromic and non-syndromic v1.547 DPH2 Zornitza Stark Classified gene: DPH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.547 DPH2 Zornitza Stark Gene: dph2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.546 DPH2 Zornitza Stark edited their review of gene: DPH2: Added comment: Third family reported with biallelic LoF variant c.1429C>T (p.Arg477*) presenting with developmental delay, proportionate short stature, sparse hair, dysmorphic facial features, hypotonia, seizures, neuroimaging abnormalities, and behavioral issues.; Changed rating: GREEN; Changed publications: 40130534
Mendeliome v1.3973 WASHC3 Zornitza Stark Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915
Mendeliome v1.3972 WASHC3 Zornitza Stark edited their review of gene: WASHC3: Changed publications: 40129681
Intellectual disability syndromic and non-syndromic v1.546 WASHC3 Zornitza Stark Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915
Intellectual disability syndromic and non-syndromic v1.545 WASHC3 Zornitza Stark edited their review of gene: WASHC3: Changed publications: 40129681
Mendeliome v1.3972 MCM2 Zornitza Stark Publications for gene: MCM2 were set to 26196677
Mendeliome v1.3971 MCM2 Zornitza Stark edited their review of gene: MCM2: Added comment: Three additional families reported with missense variants. However, variants not segregated in two of the individuals; the variants reported in 35652205 was inherited from a mildly affected parent. The reported variants are present in gnomAD.

Given lack of additional supporting evidence and gnomAD frequencies, retain RED rating.; Changed publications: 26196677, 35652205, 40069133
Deafness_IsolatedAndComplex v1.315 MCM2 Zornitza Stark Publications for gene: MCM2 were set to 26196677
Deafness_IsolatedAndComplex v1.314 MCM2 Zornitza Stark edited their review of gene: MCM2: Added comment: Three additional families reported with missense variants. However, variants not segregated in two of the individuals; the variants reported in 35652205 was inherited from a mildly affected parent. The reported variants are present in gnomAD.

Given lack of additional supporting evidence and gnomAD frequencies, retain RED rating.; Changed publications: 26196677, 35652205, 40069133; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.545 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Intellectual disability syndromic and non-syndromic v1.545 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.314 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Deafness_IsolatedAndComplex v1.314 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.326 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Genetic Epilepsy v1.326 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Cataract v0.533 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Cataract v0.533 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.545 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.545 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Genetic Epilepsy v1.326 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Genetic Epilepsy v1.326 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Deafness_IsolatedAndComplex v1.314 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Deafness_IsolatedAndComplex v1.314 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Cataract v0.533 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Cataract v0.533 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Cataract. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Mendeliome v1.3971 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Mendeliome v1.3971 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Mendeliome v1.3971 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Review for gene: SEC24C was set to RED
Added comment: PMID 40131364 reports 4 individuals from a consanguineous Turkish family with biallelic loss-of-function frameshift c.333del (p.Ser112Profs*115) variant presenting with neonatal‑onset severe syndromic epileptic encephalopathy, congenital cataracts, primary microcephaly, macrocytic anaemia, sensorineural hearing loss, liver dysfunction and dysmorphic facial features. The variant segregates with autosomal recessive inheritance and functional studies in patient fibroblasts and zebrafish knockouts demonstrate >90% loss of SEC24C expression, impaired ER‑Golgi trafficking and recapitulation of cataract and neurodevelopmental phenotypes.
Sources: Literature
Mendeliome v1.3970 ARAF Zornitza Stark Marked gene: ARAF as ready
Mendeliome v1.3970 ARAF Zornitza Stark Gene: araf has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3970 Zornitza Stark Copied gene ARAF from panel Lymphoedema_nonsyndromic
Mendeliome v1.3970 ARAF Zornitza Stark gene: ARAF was added
gene: ARAF was added to Mendeliome. 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_nonsyndromic v0.46 ARAF Zornitza Stark Marked gene: ARAF as ready
Lymphoedema_nonsyndromic v0.46 ARAF Zornitza Stark Gene: araf has been classified as Amber List (Moderate Evidence).
Lymphoedema_nonsyndromic v0.46 ARAF Zornitza Stark Classified gene: ARAF as Amber List (moderate evidence)
Lymphoedema_nonsyndromic v0.46 ARAF Zornitza Stark Gene: araf has been classified as Amber List (Moderate Evidence).
Lymphoedema_nonsyndromic v0.45 ARAF Zornitza Stark gene: ARAF was added
gene: ARAF was added to Lymphoedema_nonsyndromic. Sources: 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
Review for gene: ARAF was set to AMBER
Added comment: ARAF encodes a RAF family serine/threonine kinase that regulates MAPK/ERK signaling; the conserved Ser214 site mediates 14‑3‑3 binding. The paper reports two unrelated patients (a 12‑year‑old male with central conducting lymphatic anomaly and an adult female with lymphangiomatosis) each harboring the same de novo, ?somatic gain‑of‑function missense variant c.640T>C (p.S214P). Detailed clinical phenotyping, segregation analysis, and extensive functional validation (enhanced ERK1/2 activity in HEK293T/HeLa/HDLEC cells rescued by trametinib and a zebrafish lymphatic phenotype rescued by cobimetinib) support pathogenicity and guided successful MEK‑inhibitor therapy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.544 CAMK2G Elena Savva Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM# 618522 to Intellectual developmental disorder, autosomal dominant 59 MIM# 618522
Mendeliome v1.3969 CAMK2G Elena Savva Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM# 618522 to Intellectual developmental disorder, autosomal dominant 59 MIM# 618522
Monogenic Diabetes v0.157 CEL Seb Lunke Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620
Mendeliome v1.3968 CEL Seb Lunke Mode of pathogenicity for gene: CEL was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.156 CEL Seb Lunke Mode of pathogenicity for gene: CEL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.155 CEL Seb Lunke Classified gene: CEL as Green List (high evidence)
Monogenic Diabetes v0.155 CEL Seb Lunke Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.
Monogenic Diabetes v0.155 CEL Seb Lunke Gene: cel has been classified as Green List (High Evidence).
Monogenic Diabetes v0.154 CEL Seb Lunke Tag technically challenging tag was added to gene: CEL.
Monogenic Diabetes v0.154 Seb Lunke Added reviews for gene CEL from panel Maturity-onset Diabetes of the Young
Mendeliome v1.3967 CEL Seb Lunke Tag technically challenging tag was added to gene: CEL.
Mendeliome v1.3967 CEL Seb Lunke Added comment: Comment on mode of pathogenicity: Dominant Negative Gain-of-Function experimentally established
Mendeliome v1.3967 CEL Seb Lunke Mode of pathogenicity for gene: CEL was changed from to Other
Mendeliome v1.3966 CEL Seb Lunke Publications for gene: CEL were set to 24062244; 21784842; 19760265; 18544793; 17989309; 16369531; 29233499; 27650499
Mendeliome v1.3965 CEL Seb Lunke Classified gene: CEL as Green List (high evidence)
Mendeliome v1.3965 CEL Seb Lunke Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.
Mendeliome v1.3965 CEL Seb Lunke Gene: cel has been classified as Green List (High Evidence).
Monogenic Diabetes v0.153 CEL Seb Lunke Deleted their review
Mendeliome v1.3964 Seb Lunke Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+
Monogenic Diabetes v0.153 Seb Lunke Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+
Infertility and Recurrent Pregnancy Loss v1.64 APBB1 Zornitza Stark Marked gene: APBB1 as ready
Infertility and Recurrent Pregnancy Loss v1.64 APBB1 Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.64 Zornitza Stark Copied gene APBB1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.64 APBB1 Zornitza Stark gene: APBB1 was added
gene: APBB1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: APBB1 were set to 40151319
Phenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related
Mendeliome v1.3963 APBB1 Zornitza Stark Marked gene: APBB1 as ready
Mendeliome v1.3963 APBB1 Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3963 APBB1 Zornitza Stark Classified gene: APBB1 as Amber List (moderate evidence)
Mendeliome v1.3963 APBB1 Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3962 APBB1 Zornitza Stark gene: APBB1 was added
gene: APBB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: APBB1 were set to 40151319
Phenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related
Review for gene: APBB1 was set to AMBER
Added comment: PMID 40151319 reports 9 individuals from 9 unrelated families with heterozygous variants (missense, nonsense, frameshift) in APBB1 presenting with non‑obstructive azoospermia (NOA). The study provides mouse conditional knockout and human spermatogonial stem cell knock‑down functional data supporting a role for APBB1 loss of function in spermatogenic failure. Missing segregation data and at least 2 of the reported variants are present at high frequencies in gnomAD.
Sources: Literature
Leukodystrophy v0.388 Bryony Thompson Panel name changed from Leukodystrophy - paediatric to Leukodystrophy
Leukodystrophy v0.387 Bryony Thompson Copied STR PRNP_CJD_octapeptide from panel Leukodystrophy - adult onset
Leukodystrophy v0.387 PRNP_CJD_octapeptide Bryony Thompson STR: PRNP_CJD_octapeptide was added
STR: PRNP_CJD_octapeptide was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407
Phenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440
Leukodystrophy v0.386 Bryony Thompson Copied STR NOTCH2NLC_NIID_GGC from panel Leukodystrophy - adult onset
Leukodystrophy v0.386 NOTCH2NLC_NIID_GGC Bryony Thompson STR: NOTCH2NLC_NIID_GGC was added
STR: NOTCH2NLC_NIID_GGC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Leukodystrophy v0.385 Bryony Thompson Copied STR C9orf72_FTDALS_GGGGCC from panel Leukodystrophy - adult onset
Leukodystrophy v0.385 C9orf72_FTDALS_GGGGCC Bryony Thompson STR: C9orf72_FTDALS_GGGGCC was added
STR: C9orf72_FTDALS_GGGGCC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for STR: C9orf72_FTDALS_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: C9orf72_FTDALS_GGGGCC were set to 36970046; 36632182
Phenotypes for STR: C9orf72_FTDALS_GGGGCC were set to frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
Penetrance for STR: C9orf72_FTDALS_GGGGCC were set to Incomplete
Leukodystrophy v0.384 Bryony Thompson Copied gene ZNF319 from panel Leukodystrophy - adult onset
Leukodystrophy v0.384 ZNF319 Bryony Thompson gene: ZNF319 was added
gene: ZNF319 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ZNF319 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF319 were set to 40820230
Phenotypes for gene: ZNF319 were set to Leukodystrophy, MONDO:0019046, ZNF319-related
Leukodystrophy v0.383 Bryony Thompson Copied gene UNC13D from panel Leukodystrophy - adult onset
Leukodystrophy v0.383 UNC13D Bryony Thompson gene: UNC13D was added
gene: UNC13D was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3 608898
Leukodystrophy v0.382 Bryony Thompson Copied gene TYROBP from panel Leukodystrophy - adult onset
Leukodystrophy v0.382 TYROBP Bryony Thompson gene: TYROBP was added
gene: TYROBP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770
Leukodystrophy v0.381 Bryony Thompson Copied gene TREM2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.381 TREM2 Bryony Thompson gene: TREM2 was added
gene: TREM2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to 12080485; 15883308
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
Leukodystrophy v0.380 Bryony Thompson Copied gene TPP2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.380 TPP2 Bryony Thompson gene: TPP2 was added
gene: TPP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to 25414442
Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Leukodystrophy v0.379 Bryony Thompson Copied gene STXBP2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.379 STXBP2 Bryony Thompson gene: STXBP2 was added
gene: STXBP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101
Leukodystrophy v0.378 Bryony Thompson Copied gene SPG7 from panel Leukodystrophy - adult onset
Leukodystrophy v0.378 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 20108356; 17646629
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive 607259
Leukodystrophy v0.377 Bryony Thompson Copied gene SPG21 from panel Leukodystrophy - adult onset
Leukodystrophy v0.377 SPG21 Bryony Thompson gene: SPG21 was added
gene: SPG21 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert list
new gene name tags were added to gene: SPG21.
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to 14564668
Phenotypes for gene: SPG21 were set to Mast syndrome 248900
Leukodystrophy v0.376 Bryony Thompson Copied gene SPAST from panel Leukodystrophy - adult onset
Leukodystrophy v0.376 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to 23968121
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant 182601
Leukodystrophy v0.375 Bryony Thompson Copied gene RPS6KA3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.375 RPS6KA3 Bryony Thompson gene: RPS6KA3 was added
gene: RPS6KA3 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RPS6KA3 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: RPS6KA3 were set to 16691578
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome, 303600
Leukodystrophy v0.374 Bryony Thompson Copied gene RNF216 from panel Leukodystrophy - adult onset
Leukodystrophy v0.374 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 28334938; 26250479
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Leukodystrophy v0.373 Bryony Thompson Copied gene PSEN2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.373 PSEN2 Bryony Thompson gene: PSEN2 was added
gene: PSEN2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN2 were set to 36845656
Phenotypes for gene: PSEN2 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140
Mode of pathogenicity for gene: PSEN2 was set to Other
Leukodystrophy v0.372 Bryony Thompson Copied gene PSEN1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.372 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 36845656
Phenotypes for gene: PSEN1 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140
Mode of pathogenicity for gene: PSEN1 was set to Other
Leukodystrophy v0.371 Bryony Thompson Copied gene PRNP from panel Leukodystrophy - adult onset
Leukodystrophy v0.371 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 25220284; 24252267
Phenotypes for gene: PRNP were set to fatal familial insomnia MONDO:0010808
Mode of pathogenicity for gene: PRNP was set to Other
Leukodystrophy v0.370 Bryony Thompson Copied gene POLG2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.370 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to 25655951
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Leukodystrophy v0.369 Bryony Thompson Copied gene PLD3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.369 PLD3 Bryony Thompson gene: PLD3 was added
gene: PLD3 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PLD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD3 were set to PMID: 34267643
Phenotypes for gene: PLD3 were set to Leukodystrophy
Leukodystrophy v0.368 Bryony Thompson Copied gene PAH from panel Leukodystrophy - adult onset
Leukodystrophy v0.368 PAH Bryony Thompson gene: PAH was added
gene: PAH was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
treatable tags were added to gene: PAH.
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 31636599; 32141105
Phenotypes for gene: PAH were set to Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600
Leukodystrophy v0.367 Bryony Thompson Copied gene NPC2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.367 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 25396745
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625
Leukodystrophy v0.366 Bryony Thompson Copied gene NOTCH3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.366 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOTCH3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NOTCH3 were set to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Leukodystrophy v0.365 Bryony Thompson Copied gene MTHFR from panel Leukodystrophy - adult onset
Leukodystrophy v0.365 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 29391032
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250
Leukodystrophy v0.364 Bryony Thompson Copied gene MARS from panel Leukodystrophy - adult onset
Leukodystrophy v0.364 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Leukodystrophy v0.363 Bryony Thompson Copied gene MAPT from panel Leukodystrophy - adult onset
Leukodystrophy v0.363 MAPT Bryony Thompson gene: MAPT was added
gene: MAPT was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPT were set to 33802612; 36970046
Phenotypes for gene: MAPT were set to semantic dementia MONDO:0010857
Mode of pathogenicity for gene: MAPT was set to Other
Leukodystrophy v0.362 Bryony Thompson Copied gene MAN2B1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.362 MAN2B1 Bryony Thompson gene: MAN2B1 was added
gene: MAN2B1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#248500
Leukodystrophy v0.361 Bryony Thompson Copied gene LMNB1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.361 LMNB1 Bryony Thompson gene: LMNB1 was added
gene: LMNB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital,Australian Genomcis Health Alliance Leukodystrophy Flagship,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: LMNB1.
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to 16951681; 30842973
Phenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Leukodystrophy v0.360 Bryony Thompson Copied gene LARS2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.360 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 32442335; 30737337
Phenotypes for gene: LARS2 were set to Leukodystrophy
Leukodystrophy v0.359 LAMB1 Bryony Thompson Publications for gene: LAMB1 were set to 29888467; 25925986
Leukodystrophy v0.358 LAMB1 Bryony Thompson Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy v0.357 LAMB1 Bryony Thompson Classified gene: LAMB1 as Green List (high evidence)
Leukodystrophy v0.357 LAMB1 Bryony Thompson Gene: lamb1 has been classified as Green List (High Evidence).
Leukodystrophy v0.356 Bryony Thompson Added reviews for gene LAMB1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.355 Bryony Thompson Copied gene ITM2B from panel Leukodystrophy - adult onset
Leukodystrophy v0.355 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Other
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITM2B were set to 10775542
Phenotypes for gene: ITM2B were set to ABri amyloidosis MONDO:0008306
Mode of pathogenicity for gene: ITM2B was set to Other
Leukodystrophy v0.354 Bryony Thompson Copied gene HTRA1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.354 HTRA1 Bryony Thompson gene: HTRA1 was added
gene: HTRA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; CARASIL syndrome, 600142
Leukodystrophy v0.353 Bryony Thompson Copied gene GRN from panel Leukodystrophy - adult onset
Leukodystrophy v0.353 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRN were set to 36970046; 36632182
Phenotypes for gene: GRN were set to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Leukodystrophy v0.352 Bryony Thompson Copied gene GLA from panel Leukodystrophy - adult onset
Leukodystrophy v0.352 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease, Fabry disease, cardiac variant, 301500
Leukodystrophy v0.351 Bryony Thompson Copied gene GJB1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.351 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GJB1 were set to 31842800
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Reversible posterior leukoencephalopathy
Leukodystrophy v0.350 Bryony Thompson Copied gene GJA1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.350 GJA1 Bryony Thompson gene: GJA1 was added
gene: GJA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 31023660
Phenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Leukodystrophy v0.349 Bryony Thompson Copied gene GCDH from panel Leukodystrophy - adult onset
Leukodystrophy v0.349 GCDH Bryony Thompson gene: GCDH was added
gene: GCDH was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670
Leukodystrophy v0.348 Bryony Thompson Copied gene GBE1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.348 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form, 263570
Leukodystrophy v0.347 Bryony Thompson Copied gene GAN from panel Leukodystrophy - adult onset
Leukodystrophy v0.347 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, MIM#256850
Leukodystrophy v0.346 Bryony Thompson Copied gene CYP27A1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.346 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Leukodystrophy v0.345 Bryony Thompson Copied gene CTSA from panel Leukodystrophy - adult onset
Leukodystrophy v0.345 CTSA Bryony Thompson gene: CTSA was added
gene: CTSA was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTSA were set to 31177426
Phenotypes for gene: CTSA were set to Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394
Leukodystrophy v0.344 Bryony Thompson Copied gene CST3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.344 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 38489591
Phenotypes for gene: CST3 were set to Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214
Leukodystrophy v0.343 Bryony Thompson Copied gene CSF1R from panel Leukodystrophy - adult onset
Leukodystrophy v0.343 CSF1R Bryony Thompson gene: CSF1R was added
gene: CSF1R was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
Leukodystrophy v0.342 Bryony Thompson Copied gene COL4A2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.342 COL4A2 Bryony Thompson gene: COL4A2 was added
gene: COL4A2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A2 were set to 30413629; 27624120; 24390199
Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, 614483
Leukodystrophy v0.341 Bryony Thompson Copied gene COL4A1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.341 COL4A1 Bryony Thompson gene: COL4A1 was added
gene: COL4A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780
Leukodystrophy v0.340 Bryony Thompson Copied gene C1R from panel Leukodystrophy - adult onset
Leukodystrophy v0.340 C1R Bryony Thompson gene: C1R was added
gene: C1R was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other,Literature
Mode of inheritance for gene: C1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1R were set to 8958339; 30535813
Phenotypes for gene: C1R were set to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Leukodystrophy - adult onset
Penetrance for gene: C1R were set to unknown
Mode of pathogenicity for gene: C1R was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Leukodystrophy v0.339 Bryony Thompson Copied gene ATP7B from panel Leukodystrophy - adult onset
Leukodystrophy v0.339 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 16966556; 12020274
Phenotypes for gene: ATP7B were set to Wilson disease, 277900
Leukodystrophy v0.338 Bryony Thompson Copied gene APP from panel Leukodystrophy - adult onset
Leukodystrophy v0.338 APP Bryony Thompson gene: APP was added
gene: APP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APP were set to 36845656
Phenotypes for gene: APP were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140
Leukodystrophy v0.337 Bryony Thompson Copied gene ANXA11 from panel Leukodystrophy - adult onset
Leukodystrophy v0.337 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert Review
founder tags were added to gene: ANXA11.
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 34048612
Phenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733
Leukodystrophy v0.336 Bryony Thompson Copied gene AARS2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.336 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, 615889
Mendeliome v1.3961 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Mendeliome v1.3961 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Intellectual disability syndromic and non-syndromic v1.543 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Intellectual disability syndromic and non-syndromic v1.543 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Holoprosencephaly and septo-optic dysplasia v1.22 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Holoprosencephaly and septo-optic dysplasia v1.22 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Fetal anomalies v1.503 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Fetal anomalies v1.503 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Clefting disorders v0.301 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Clefting disorders v0.301 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Clefting disorders. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Mendeliome v1.3960 Bryony Thompson Copied STR XYLT1_DBQD2_GGC from panel Repeat Disorders
Mendeliome v1.3960 XYLT1_DBQD2_GGC Bryony Thompson STR: XYLT1_DBQD2_GGC was added
STR: XYLT1_DBQD2_GGC was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: XYLT1_DBQD2_GGC.
Mode of inheritance for STR: XYLT1_DBQD2_GGC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: XYLT1_DBQD2_GGC were set to 30554721
Phenotypes for STR: XYLT1_DBQD2_GGC were set to Desbuquois dysplasia 2 MIM#615777
Mendeliome v1.3959 Bryony Thompson Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Repeat Disorders
Mendeliome v1.3959 VWA1_HMNMYO_GCGCGGAGCG Bryony Thompson STR: VWA1_HMNMYO_GCGCGGAGCG was added
STR: VWA1_HMNMYO_GCGCGGAGCG was added to Mendeliome. Sources: 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_CMT - isolated v1.70 Bryony Thompson Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Repeat Disorders
Hereditary Neuropathy_CMT - isolated v1.70 VWA1_HMNMYO_GCGCGGAGCG Bryony Thompson STR: VWA1_HMNMYO_GCGCGGAGCG was added
STR: VWA1_HMNMYO_GCGCGGAGCG was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Mendeliome v1.3958 Bryony Thompson Copied STR TCF4_FECD3_CTG from panel Repeat Disorders
Mendeliome v1.3958 TCF4_FECD3_CTG Bryony Thompson STR: TCF4_FECD3_CTG was added
STR: TCF4_FECD3_CTG was added to Mendeliome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: TCF4_FECD3_CTG.
Mode of inheritance for STR: TCF4_FECD3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TCF4_FECD3_CTG were set to 25722209; 24255041
Phenotypes for STR: TCF4_FECD3_CTG were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267
Mendeliome v1.3957 Bryony Thompson Copied STR TBX1_TOF_GCN from panel Repeat Disorders
Mendeliome v1.3957 TBX1_TOF_GCN Bryony Thompson STR: TBX1_TOF_GCN was added
STR: TBX1_TOF_GCN was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: TBX1_TOF_GCN.
Mode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBX1_TOF_GCN were set to 19948535; 11748311
Phenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500
Congenital Heart Defect v0.517 Bryony Thompson Copied STR TBX1_TOF_GCN from panel Repeat Disorders
Congenital Heart Defect v0.517 TBX1_TOF_GCN Bryony Thompson STR: TBX1_TOF_GCN was added
STR: TBX1_TOF_GCN was added to Congenital Heart Defect. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: TBX1_TOF_GCN.
Mode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBX1_TOF_GCN were set to 19948535; 11748311
Phenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500
Mendeliome v1.3956 Bryony Thompson Copied STR TAF1_XDP_CCCTCT from panel Repeat Disorders
Mendeliome v1.3956 TAF1_XDP_CCCTCT Bryony Thompson STR: TAF1_XDP_CCCTCT was added
STR: TAF1_XDP_CCCTCT was added to Mendeliome. Sources: Expert Review Green,Expert list
founder, adult-onset tags were added to STR: TAF1_XDP_CCCTCT.
Mode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810
Phenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250
Pituitary hormone deficiency v0.170 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Pituitary hormone deficiency v0.170 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Mendeliome v1.3955 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Mendeliome v1.3955 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Congenital hypothyroidism v0.78 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Congenital hypothyroidism v0.78 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Pain syndromes v0.37 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders
Pain syndromes v0.37 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Pain syndromes. Sources: 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
Mendeliome v1.3954 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders
Mendeliome v1.3954 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Mendeliome. Sources: 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_CMT - isolated v1.69 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders
Hereditary Neuropathy_CMT - isolated v1.69 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Hereditary Neuropathy_CMT - isolated. Sources: 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
Pulmonary Fibrosis_Interstitial Lung Disease v1.1 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Pulmonary Fibrosis_Interstitial Lung Disease v1.1 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Mendeliome v1.3953 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Mendeliome v1.3953 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Hirschsprung disease v0.28 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Hirschsprung disease v0.28 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Hirschsprung disease. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Fetal anomalies v1.502 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Fetal anomalies v1.502 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Central Hypoventilation v1.7 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Central Hypoventilation v1.7 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Central Hypoventilation. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Mendeliome v1.3952 Bryony Thompson Copied STR PABPN1_OPMD_GCN from panel Repeat Disorders
Mendeliome v1.3952 PABPN1_OPMD_GCN Bryony Thompson STR: PABPN1_OPMD_GCN was added
STR: PABPN1_OPMD_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: PABPN1_OPMD_GCN.
Mode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305
Phenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300
Mendeliome v1.3951 Bryony Thompson Copied STR NUTM2B-AS1_OPDM_CCG from panel Repeat Disorders
Mendeliome v1.3951 NUTM2B-AS1_OPDM_CCG Bryony Thompson STR: NUTM2B-AS1_OPDM_CCG was added
STR: NUTM2B-AS1_OPDM_CCG was added to Mendeliome. Sources: Expert Review Green,Literature
adult-onset tags were added to STR: NUTM2B-AS1_OPDM_CCG.
Mode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380
Phenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637
Mendeliome v1.3950 Bryony Thompson Copied STR LRP12_OPDM1_CGG from panel Repeat Disorders
Mendeliome v1.3950 LRP12_OPDM1_CGG Bryony Thompson STR: LRP12_OPDM1_CGG was added
STR: LRP12_OPDM1_CGG was added to Mendeliome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: LRP12_OPDM1_CGG.
Mode of inheritance for STR: LRP12_OPDM1_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: LRP12_OPDM1_CGG were set to 31332380; 34047774; 37339631
Phenotypes for STR: LRP12_OPDM1_CGG were set to Oculopharyngodistal myopathy 1 MIM#164310; Amyotrophic lateral sclerosis MONDO:0004976
Skeletal dysplasia v0.372 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Skeletal dysplasia v0.372 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Polydactyly v0.299 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Polydactyly v0.299 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Polydactyly. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Mendeliome v1.3949 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Mendeliome v1.3949 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Hand and foot malformations v0.81 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Hand and foot malformations v0.81 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Hand and foot malformations. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Skeletal dysplasia v0.371 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Skeletal dysplasia v0.371 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Radial Ray Abnormalities v1.20 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Radial Ray Abnormalities v1.20 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Radial Ray Abnormalities. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Polydactyly v0.298 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Polydactyly v0.298 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Polydactyly. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Mendeliome v1.3948 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Mendeliome v1.3948 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Fetal anomalies v1.501 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Fetal anomalies v1.501 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Differences of Sex Development v1.32 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Differences of Sex Development v1.32 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Differences of Sex Development. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.161 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.161 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Mendeliome v1.3947 Bryony Thompson Copied STR GLS_GDPAG_GCA from panel Repeat Disorders
Mendeliome v1.3947 GLS_GDPAG_GCA Bryony Thompson STR: GLS_GDPAG_GCA was added
STR: GLS_GDPAG_GCA was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: GLS_GDPAG_GCA.
Mode of inheritance for STR: GLS_GDPAG_GCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GLS_GDPAG_GCA were set to 30970188
Phenotypes for STR: GLS_GDPAG_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Mendeliome v1.3946 Bryony Thompson Copied STR FXN_FRDA_GAA from panel Repeat Disorders
Mendeliome v1.3946 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Deafness_IsolatedAndComplex v1.313 Bryony Thompson Copied STR FXN_FRDA_GAA from panel Repeat Disorders
Deafness_IsolatedAndComplex v1.313 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Mendeliome v1.3945 Bryony Thompson Copied STR FOXL2_BPES_GCN from panel Repeat Disorders
Mendeliome v1.3945 FOXL2_BPES_GCN Bryony Thompson STR: FOXL2_BPES_GCN was added
STR: FOXL2_BPES_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FOXL2_BPES_GCN.
Mode of inheritance for STR: FOXL2_BPES_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: FOXL2_BPES_GCN were set to 11468277; 33811808
Phenotypes for STR: FOXL2_BPES_GCN were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996
Skeletal Muscle Channelopathies v1.3 Bryony Thompson Copied STR DMPK_DM1_CTG from panel Repeat Disorders
Skeletal Muscle Channelopathies v1.3 DMPK_DM1_CTG Bryony Thompson STR: DMPK_DM1_CTG was added
STR: DMPK_DM1_CTG was added to Skeletal Muscle Channelopathies. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: DMPK_DM1_CTG.
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; 1546325
Phenotypes for STR: DMPK_DM1_CTG were set to Myotonic dystrophy 1 MIM#160900
Skeletal dysplasia v0.370 Bryony Thompson Copied STR COMP_MEDPSACH_GAC from panel Repeat Disorders
Skeletal dysplasia v0.370 COMP_MEDPSACH_GAC Bryony Thompson STR: COMP_MEDPSACH_GAC was added
STR: COMP_MEDPSACH_GAC was added to Skeletal dysplasia. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: COMP_MEDPSACH_GAC.
Mode of inheritance for STR: COMP_MEDPSACH_GAC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: COMP_MEDPSACH_GAC were set to 9887340; 17133256; 21922596
Phenotypes for STR: COMP_MEDPSACH_GAC were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170
Multiple epiphyseal dysplasia and pseudoachondroplasia v0.12 Bryony Thompson Copied STR COMP_MEDPSACH_GAC from panel Repeat Disorders
Multiple epiphyseal dysplasia and pseudoachondroplasia v0.12 COMP_MEDPSACH_GAC Bryony Thompson STR: COMP_MEDPSACH_GAC was added
STR: COMP_MEDPSACH_GAC was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: COMP_MEDPSACH_GAC.
Mode of inheritance for STR: COMP_MEDPSACH_GAC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: COMP_MEDPSACH_GAC were set to 9887340; 17133256; 21922596
Phenotypes for STR: COMP_MEDPSACH_GAC were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170
Skeletal Muscle Channelopathies v1.2 Bryony Thompson Copied STR CNBP_DM2_CCTG from panel Repeat Disorders
Skeletal Muscle Channelopathies v1.2 CNBP_DM2_CCTG Bryony Thompson STR: CNBP_DM2_CCTG was added
STR: CNBP_DM2_CCTG was added to Skeletal Muscle Channelopathies. 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
Red cell disorders v1.42 SUPT5H Zornitza Stark Marked gene: SUPT5H as ready
Red cell disorders v1.42 SUPT5H Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence).
Red cell disorders v1.42 SUPT5H Zornitza Stark Mode of inheritance for gene: SUPT5H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.41 SUPT5H Zornitza Stark edited their review of gene: SUPT5H: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3944 SUPT5H Zornitza Stark Mode of inheritance for gene: SUPT5H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3943 SUPT5H Zornitza Stark edited their review of gene: SUPT5H: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.41 Zornitza Stark Copied gene SUPT5H from panel Mendeliome
Red cell disorders v1.41 SUPT5H Zornitza Stark gene: SUPT5H was added
gene: SUPT5H was added to Red cell disorders. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SUPT5H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUPT5H were set to 40159794; 36945604; 36054783; 32589702
Phenotypes for gene: SUPT5H were set to Erythrocyte disorder, MONDO:0044347, SUPT5H-related
Mendeliome v1.3943 SUPT5H Zornitza Stark Marked gene: SUPT5H as ready
Mendeliome v1.3943 SUPT5H Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence).
Mendeliome v1.3943 SUPT5H Zornitza Stark Classified gene: SUPT5H as Green List (high evidence)
Mendeliome v1.3943 SUPT5H Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence).
Mendeliome v1.3942 SUPT5H Zornitza Stark gene: SUPT5H was added
gene: SUPT5H was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SUPT5H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUPT5H were set to 40159794; 36945604; 36054783; 32589702
Phenotypes for gene: SUPT5H were set to Erythrocyte disorder, MONDO:0044347, SUPT5H-related
Review for gene: SUPT5H was set to GREEN
Added comment: PMID 32589702, 36054783, 36945604, 37586368, 39902717 and 40159794 collectively report >40 unrelated families with heterozygous loss‑of‑function SUPT5H variants causing a β‑thalassemia‑trait‑like phenotype (elevated HbA2, mild microcytic anemia). Variants segregate in an autosomal‑dominant pattern, LOD > 3.5 in large pedigrees, and functional assays (RNA‑splicing defects, CRISPR‑edited HSPC models) demonstrate haploinsufficiency.
Sources: Literature
Mendeliome v1.3941 FRMD4B Zornitza Stark Marked gene: FRMD4B as ready
Mendeliome v1.3941 FRMD4B Zornitza Stark Gene: frmd4b has been classified as Red List (Low Evidence).
Mendeliome v1.3941 FRMD4B Zornitza Stark gene: FRMD4B was added
gene: FRMD4B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FRMD4B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4B were set to 40162949
Phenotypes for gene: FRMD4B were set to Duane retraction syndrome, MONDO:0007473, FRMD4B-related
Review for gene: FRMD4B was set to RED
Added comment: PMID 40162949 reports an individual with homozygous FRMD4B missense (c.380A>G, p.Lys127Arg) variant presenting with Duane retraction syndrome type III and syndromic features (hearing loss, developmental delay, atrial septal defect, gastrointestinal abnormalities). Zebrafish loss‑of‑function model recapitulates the cranial nerve phenotype, supporting a loss‑of‑function disease mechanism.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.55 CRIM1 Zornitza Stark Marked gene: CRIM1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.55 CRIM1 Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.55 Zornitza Stark Copied gene CRIM1 from panel Mendeliome
Anophthalmia_Microphthalmia_Coloboma v1.55 CRIM1 Zornitza Stark gene: CRIM1 was added
gene: CRIM1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRIM1 were set to 40114969; 33418956
Phenotypes for gene: CRIM1 were set to Microphthalmia, MONDO:0021129, CRIM1-related
Mendeliome v1.3940 CRIM1 Zornitza Stark Marked gene: CRIM1 as ready
Mendeliome v1.3940 CRIM1 Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3940 CRIM1 Zornitza Stark Classified gene: CRIM1 as Amber List (moderate evidence)
Mendeliome v1.3940 CRIM1 Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3939 CRIM1 Zornitza Stark gene: CRIM1 was added
gene: CRIM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRIM1 were set to 40114969; 33418956
Phenotypes for gene: CRIM1 were set to Microphthalmia, MONDO:0021129, CRIM1-related
Review for gene: CRIM1 was set to AMBER
Added comment: PMID 33418956 reports 1 individual, and PMID 40114969 reports 3 individuals from 3 families, all with heterozygous loss‑of‑function CRIM1 variants causing colobomatous macropthalmia with microcornea (MACOM) in an autosomal dominant pattern. Segregation is demonstrated across multiple affected relatives, and mouse and zebrafish loss‑of‑function models recapitulate the ocular phenotype, supporting haploinsufficiency as the disease mechanism. However, three of the variants are deletions of various sizes and one of the variants is present in gnomAD.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.63 ARMC2 Zornitza Stark Marked gene: ARMC2 as ready
Infertility and Recurrent Pregnancy Loss v1.63 ARMC2 Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.63 Zornitza Stark Copied gene ARMC2 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.63 ARMC2 Zornitza Stark gene: ARMC2 was added
gene: ARMC2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC2 were set to 40158138; 38492154; 35543806; 30686508
Phenotypes for gene: ARMC2 were set to Spermatogenic failure 38, MIM# 618433
Mendeliome v1.3938 ARMC2 Zornitza Stark Marked gene: ARMC2 as ready
Mendeliome v1.3938 ARMC2 Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence).
Mendeliome v1.3938 ARMC2 Zornitza Stark Classified gene: ARMC2 as Green List (high evidence)
Mendeliome v1.3938 ARMC2 Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence).
Mendeliome v1.3937 ARMC2 Zornitza Stark gene: ARMC2 was added
gene: ARMC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC2 were set to 40158138; 38492154; 35543806; 30686508
Phenotypes for gene: ARMC2 were set to Spermatogenic failure 38, MIM# 618433
Review for gene: ARMC2 was set to GREEN
Added comment: ARMC2 encodes an 867‑amino‑acid armadillo‑repeat protein highly expressed in testis and implicated in assembly and stability of the central pair complex of motile cilia and sperm flagella. Ten unrelated families (ten patients) with biallelic loss‑of‑function or predicted loss‑of‑function ARMC2 variants have been reported with multiple morphological abnormalities of the sperm flagella (MMAF) causing severe asthenoteratozoospermia and male infertility; one of these families also presented with primary ciliary dyskinesia pulmonary manifestations. Supportive mouse model.
Sources: Literature
Fetal anomalies v1.500 LMNB2 Zornitza Stark Publications for gene: LMNB2 were set to 33033404
Fetal anomalies v1.499 LMNB2 Zornitza Stark reviewed gene: LMNB2: Rating: RED; Mode of pathogenicity: None; Publications: 40011009; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.31 PCSK1 Zornitza Stark Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v1.53 SOD1 Zornitza Stark Classified gene: SOD1 as Green List (high evidence)
Hereditary Neuropathy - complex v1.53 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.52 SOD1 Zornitza Stark gene: SOD1 was added
gene: SOD1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOD1 were set to 39932579
Phenotypes for gene: SOD1 were set to Hereditary peripheral neuropathy, MONDO:0020127, SOD1-related
Review for gene: SOD1 was set to GREEN
Added comment: Multiple individuals reported with adult-onset, length-dependent, motor-dominant axonal neuropathy
Sources: Literature
Macrocephaly_Megalencephaly v0.158 RHEB Zornitza Stark Marked gene: RHEB as ready
Macrocephaly_Megalencephaly v0.158 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.158 RHEB Zornitza Stark Phenotypes for gene: RHEB were changed from to Neurodevelopmental disorder MONDO:0700092, RHEB-related
Macrocephaly_Megalencephaly v0.157 RHEB Zornitza Stark Publications for gene: RHEB were set to
Macrocephaly_Megalencephaly v0.156 RHEB Zornitza Stark Mode of inheritance for gene: RHEB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.155 RHEB Zornitza Stark reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493, 39993836; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.325 RHEB Zornitza Stark Marked gene: RHEB as ready
Genetic Epilepsy v1.325 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Genetic Epilepsy v1.325 Zornitza Stark Copied gene RHEB from panel Mendeliome
Genetic Epilepsy v1.325 RHEB Zornitza Stark gene: RHEB was added
gene: RHEB was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RHEB was set to Other
Publications for gene: RHEB were set to 31337748; 29051493; 39993836
Phenotypes for gene: RHEB were set to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia
Mendeliome v1.3936 RHEB Zornitza Stark Publications for gene: RHEB were set to 31337748; 29051493
Mendeliome v1.3935 RHEB Zornitza Stark edited their review of gene: RHEB: Added comment: PMID 39993836 reports fourth individual with de novo variant c.71 T>C; p.Ile24Thr, ID and epilepsy.; Changed publications: 31337748, 29051493, 39993836
Mendeliome v1.3935 MACF1 Zornitza Stark Phenotypes for gene: MACF1 were changed from Lissencephaly 9 with complex brainstem malformation, MIM# 618325 to Lissencephaly 9 with complex brainstem malformation, MIM# 618325; Congenital myasthenic syndrome, MONDO:0018940, MACF1-related
Mendeliome v1.3934 MACF1 Zornitza Stark Publications for gene: MACF1 were set to 30471716
Mendeliome v1.3933 MACF1 Zornitza Stark Mode of pathogenicity for gene: MACF1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Mendeliome v1.3932 MACF1 Zornitza Stark Mode of inheritance for gene: MACF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3931 MACF1 Zornitza Stark edited their review of gene: MACF1: Added comment: PMIDs 37721175 and 30842214: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association.; Changed publications: 30471716, 37721175, 30842214; Changed phenotypes: Lissencephaly 9 with complex brainstem malformation, MIM# 618325, Congenital myasthenic syndrome, MONDO:0018940, MACF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Gene: macf1 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Classified gene: MACF1 as Amber List (moderate evidence)
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Gene: macf1 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.19 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Congenital Myasthenia. Sources: Literature
Mode of inheritance for gene: MACF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MACF1 were set to 37721175; 30842214
Phenotypes for gene: MACF1 were set to Congenital myasthenic syndrome, MONDO:0018940, MACF1-related
Review for gene: MACF1 was set to AMBER
Added comment: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association.
Sources: Literature
Mendeliome v1.3931 LIG4 Zornitza Stark Publications for gene: LIG4 were set to 11779494; 16088910; 15333585; 20133615
Mendeliome v1.3930 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3929 LIG4 Zornitza Stark edited their review of gene: LIG4: Added comment: PMID 37004747: 2 variants (p.R580Q, p.A842D) in unrelated patients associated with a dominantly inherited
familial immune-dysregulation consisting of autoimmune cytopenias, lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organ. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient.; Changed publications: 11779494, 16088910, 15333585, 20133615, 37004747; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Pigmentary Disorders v1.5 KITLG Zornitza Stark Publications for gene: KITLG were set to 19375057; 21368769
Hereditary Pigmentary Disorders v1.4 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3929 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Repeat Disorders v0.272 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy 5, MIM# 621446
Repeat Disorders v0.271 ABCD3_OPDM_GCC Zornitza Stark Publications for STR: ABCD3_OPDM_GCC were set to https://doi.org/10.1101/2023.10.09.23296582
Repeat Disorders v0.270 ABCD3_OPDM_GCC Zornitza Stark reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.64 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy 5, MIM# 621446
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.63 ABCD3_OPDM_GCC Zornitza Stark reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None
Mendeliome v1.3928 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193; Oculopharyngodistal myopathy 5, MIM# 621446 to Oculopharyngodistal myopathy 5, MIM# 621446
Mendeliome v1.3927 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy MONDO:0025193; Oculopharyngodistal myopathy 5, MIM# 621446
Mendeliome v1.3926 ABCD3_OPDM_GCC Zornitza Stark reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None
Skeletal dysplasia v0.369 SLC13A1 Zornitza Stark Publications for gene: SLC13A1 were set to 36175384; doi: https://doi.org/10.1016/j.gimo.2024.101958
Skeletal dysplasia v0.368 SLC13A1 Zornitza Stark changed review comment from: PMID now available.; to: PMID now available. Evidence is borderline with some contradictory, hence Amber rating.
Skeletal dysplasia v0.368 SLC13A1 Zornitza Stark reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39925707; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.499 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Fetal anomalies v1.498 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Fetal anomalies v1.497 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Fetal anomalies v1.497 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Fetal anomalies v1.496 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Skeletal dysplasia v0.368 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Skeletal dysplasia v0.368 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.367 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Skeletal dysplasia v0.367 RSPRY1 Zornitza Stark commented on gene: RSPRY1: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.
Intellectual disability syndromic and non-syndromic v1.542 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Intellectual disability syndromic and non-syndromic v1.541 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.541 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.540 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Mendeliome v1.3926 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Mendeliome v1.3925 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Mendeliome v1.3925 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Mendeliome v1.3924 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Mendeliome v1.3924 TAX1BP3 Zornitza Stark Publications for gene: TAX1BP3 were set to 39963794
Mendeliome v1.3923 TAX1BP3 Zornitza Stark edited their review of gene: TAX1BP3: Added comment: PMID 25645515 reports 2 individuals from a consanguineous family with autosomal recessive dilated cardiomyopathy and septo‑optic dysplasia and a homozygous missense variant in TAX1BP3.; Changed publications: 39963794, 25645515
Arrhythmogenic Cardiomyopathy v0.75 TAX1BP3 Zornitza Stark Publications for gene: TAX1BP3 were set to (PMID: 39963794)
Arrhythmogenic Cardiomyopathy v0.74 TAX1BP3 Zornitza Stark reviewed gene: TAX1BP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25645515; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.540 USMG5 Zornitza Stark Marked gene: USMG5 as ready
Intellectual disability syndromic and non-syndromic v1.540 USMG5 Zornitza Stark Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.540 Zornitza Stark Copied gene USMG5 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.540 USMG5 Zornitza Stark gene: USMG5 was added
gene: USMG5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USMG5 were set to 29917077; 30240627; 40014158
Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
Mendeliome v1.3923 USMG5 Zornitza Stark Publications for gene: USMG5 were set to 29917077; 30240627
Mendeliome v1.3922 USMG5 Zornitza Stark edited their review of gene: USMG5: Changed rating: AMBER
Mendeliome v1.3922 USMG5 Zornitza Stark reviewed gene: USMG5: Rating: ; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v1.3 USMG5 Zornitza Stark Tag new gene name tag was added to gene: USMG5.
Mitochondrial disease v1.3 USMG5 Zornitza Stark Publications for gene: USMG5 were set to 29917077; 30240627
Mitochondrial disease v1.2 USMG5 Zornitza Stark reviewed gene: USMG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.138 GINS4 Zornitza Stark changed review comment from: Further two individuals reported as part of NK cell deficiency cohort.; to: Same two sibs reported as part of NK cell deficiency cohort.
Combined Immunodeficiency v1.138 GINS4 Zornitza Stark edited their review of gene: GINS4: Changed rating: RED
Combined Immunodeficiency v1.138 GINS4 Zornitza Stark reviewed gene: GINS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39914554; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.62 TERB1 Zornitza Stark Marked gene: TERB1 as ready
Infertility and Recurrent Pregnancy Loss v1.62 TERB1 Zornitza Stark Gene: terb1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.62 Zornitza Stark Copied gene TERB1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.62 TERB1 Zornitza Stark gene: TERB1 was added
gene: TERB1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TERB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERB1 were set to 38277113; 35172124; 33211200; 32741963
Phenotypes for gene: TERB1 were set to Infertility disorder, MONDO:0005047, TERB1-related
Mendeliome v1.3922 TERB1 Zornitza Stark Marked gene: TERB1 as ready
Mendeliome v1.3922 TERB1 Zornitza Stark Gene: terb1 has been classified as Green List (High Evidence).
Mendeliome v1.3922 TERB1 Zornitza Stark Classified gene: TERB1 as Green List (high evidence)
Mendeliome v1.3922 TERB1 Zornitza Stark Gene: terb1 has been classified as Green List (High Evidence).
Mendeliome v1.3921 TERB1 Zornitza Stark gene: TERB1 was added
gene: TERB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TERB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERB1 were set to 38277113; 35172124; 33211200; 32741963
Phenotypes for gene: TERB1 were set to Infertility disorder, MONDO:0005047, TERB1-related
Review for gene: TERB1 was set to GREEN
Added comment: PMIDs 32741963, 33211200, 35172124 and 38277113 report a total of 5 unrelated families with biallelic loss‑of‑function or missense TERB1 variants causing male infertility (non‑obstructive azoospermia with spermatogenic arrest) and  2 unrelated families with primary female infertility (diminished ovarian reserve). The variants include frameshift, stop‑gain and missense changes; mouse Terb1 knockout recapitulates the meiotic‑arrest phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.539 C14orf80 Zornitza Stark Classified gene: C14orf80 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.539 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.538 C14orf80 Zornitza Stark edited their review of gene: C14orf80: Added comment: PMID 30842647 reports another individual with compound heterozygous loss‑of‑function TEDC1 variants (splice and frameshift) causing primary microcephaly, primordial dwarfism and developmental delay. Promote to Green.; Changed rating: GREEN; Changed publications: 39979680, 38252227, 30842647
Mendeliome v1.3920 C14orf80 Zornitza Stark Publications for gene: C14orf80 were set to 39979680; 38252227
Mendeliome v1.3919 C14orf80 Zornitza Stark Classified gene: C14orf80 as Green List (high evidence)
Mendeliome v1.3919 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Green List (High Evidence).
Mendeliome v1.3918 C14orf80 Zornitza Stark reviewed gene: C14orf80: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842647; Phenotypes: Primary microcephaly, MONDO:0016660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.389 C14orf80 Zornitza Stark Classified gene: C14orf80 as Green List (high evidence)
Microcephaly v1.389 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Green List (High Evidence).
Microcephaly v1.388 C14orf80 Zornitza Stark edited their review of gene: C14orf80: Changed rating: GREEN
Microcephaly v1.388 C14orf80 Zornitza Stark edited their review of gene: C14orf80: Added comment: PMID 30842647 reports another individual with compound heterozygous loss‑of‑function TEDC1 variants (splice and frameshift) causing primary microcephaly, primordial dwarfism and developmental delay. Promote to Green.; Changed publications: 39979680, 38252227, 30842647
Infertility and Recurrent Pregnancy Loss v1.61 RBBP7 Zornitza Stark Marked gene: RBBP7 as ready
Infertility and Recurrent Pregnancy Loss v1.61 RBBP7 Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.291 PRMT1 Zornitza Stark Marked gene: PRMT1 as ready
Dystonia and Chorea v0.291 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.538 PRMT1 Zornitza Stark Marked gene: PRMT1 as ready
Intellectual disability syndromic and non-syndromic v1.538 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.61 Zornitza Stark Copied gene RBBP7 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.61 RBBP7 Zornitza Stark gene: RBBP7 was added
gene: RBBP7 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RBBP7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBBP7 were set to 39932629; 37843278; 35809576
Phenotypes for gene: RBBP7 were set to Infertility disorder, MONDO:0005047, RBBP7-related
Mendeliome v1.3918 RBBP7 Zornitza Stark Marked gene: RBBP7 as ready
Mendeliome v1.3918 RBBP7 Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence).
Mendeliome v1.3918 RBBP7 Zornitza Stark edited their review of gene: RBBP7: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.3918 RBBP7 Zornitza Stark Mode of inheritance for gene: RBBP7 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 v1.3917 RBBP7 Zornitza Stark Classified gene: RBBP7 as Green List (high evidence)
Mendeliome v1.3917 RBBP7 Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence).
Mendeliome v1.3916 RBBP7 Zornitza Stark gene: RBBP7 was added
gene: RBBP7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RBBP7 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: RBBP7 were set to 39932629; 37843278; 35809576
Phenotypes for gene: RBBP7 were set to Infertility disorder, MONDO:0005047, RBBP7-related
Review for gene: RBBP7 was set to GREEN
Added comment: PMID 35809576, 37843278, 39932629 report 12 individuals from 11 families with X-linked loss-of-function variants presenting with non‑obstructive azoospermia (severe spermatogenic failure), including maturation arrest and, in one family, Leydig cell tumor. Clinical features include small testes, elevated FSH, absence of spermatocytes and infertility. Functional evidence from Drosophila knock‑down and rescue experiments and mouse germ‑cell line knock‑down supports a loss‑of‑function (haploinsufficiency) mechanism. No contradictory evidence has been reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.538 Zornitza Stark Copied gene PRMT1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.538 PRMT1 Zornitza Stark gene: PRMT1 was added
gene: PRMT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRMT1 were set to 39937650
Phenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related
Dystonia and Chorea v0.291 Zornitza Stark Copied gene PRMT1 from panel Mendeliome
Dystonia and Chorea v0.291 PRMT1 Zornitza Stark gene: PRMT1 was added
gene: PRMT1 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRMT1 were set to 39937650
Phenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related
Mendeliome v1.3915 PRMT1 Zornitza Stark Marked gene: PRMT1 as ready
Mendeliome v1.3915 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Mendeliome v1.3915 PRMT1 Zornitza Stark Phenotypes for gene: PRMT1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related
Mendeliome v1.3914 PRMT1 Zornitza Stark Classified gene: PRMT1 as Green List (high evidence)
Mendeliome v1.3914 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Mendeliome v1.3913 PRMT1 Zornitza Stark changed review comment from: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.
Sources: Literature; to: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia (in two). Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.

Two of the individuals had the same variant, p.Glu291Lys.

Sources: Literature
Mendeliome v1.3913 PRMT1 Zornitza Stark gene: PRMT1 was added
gene: PRMT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRMT1 were set to 39937650
Phenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: PRMT1 was set to GREEN
Added comment: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.537 EXOSC4 Zornitza Stark Marked gene: EXOSC4 as ready
Intellectual disability syndromic and non-syndromic v1.537 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence).
Brain Calcification v2.4 EXOSC4 Zornitza Stark Marked gene: EXOSC4 as ready
Brain Calcification v2.4 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Red List (Low Evidence).
Brain Calcification v2.4 EXOSC4 Zornitza Stark Classified gene: EXOSC4 as Red List (low evidence)
Brain Calcification v2.4 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Red List (Low Evidence).
Brain Calcification v2.3 EXOSC4 Zornitza Stark edited their review of gene: EXOSC4: Changed rating: RED
Intellectual disability syndromic and non-syndromic v1.537 Zornitza Stark Copied gene EXOSC4 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.537 EXOSC4 Zornitza Stark gene: EXOSC4 was added
gene: EXOSC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC4 were set to 39009343; 37961665; 36344539
Phenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092
Brain Calcification v2.3 Zornitza Stark Copied gene EXOSC4 from panel Mendeliome
Brain Calcification v2.3 EXOSC4 Zornitza Stark gene: EXOSC4 was added
gene: EXOSC4 was added to Brain Calcification. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC4 were set to 39009343; 37961665; 36344539
Phenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.3912 EXOSC4 Zornitza Stark Marked gene: EXOSC4 as ready
Mendeliome v1.3912 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3912 EXOSC4 Zornitza Stark Classified gene: EXOSC4 as Amber List (moderate evidence)
Mendeliome v1.3912 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3911 EXOSC4 Zornitza Stark gene: EXOSC4 was added
gene: EXOSC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC4 were set to 39009343; 37961665; 36344539
Phenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: EXOSC4 was set to AMBER
Added comment: PMID 37961665, 39009343 and 39982806 all report the same family with two affected siblings and a homozygous missense p.Leu187Pro variant. Reported clinical features include severe neurodevelopmental disorder with prenatal growth restriction, failure to thrive, global developmental delay, intracerebral/basal‑ganglia calcifications, renal failure and brain atrophy. Functional data in yeast and mammalian cells support pathogenicity. One additional family (PMID 36344539) reported with brain atrophy but limited other detail.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.536 NDUFA4 Zornitza Stark Tag new gene name tag was added to gene: NDUFA4.
Growth failure v1.91 KDM2A Zornitza Stark Marked gene: KDM2A as ready
Growth failure v1.91 KDM2A Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.536 KDM2A Zornitza Stark Publications for gene: KDM2A were set to
Microcephaly v1.388 KDM2A Zornitza Stark Marked gene: KDM2A as ready
Microcephaly v1.388 KDM2A Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence).
Microcephaly v1.388 Zornitza Stark Copied gene KDM2A from panel Mendeliome
Microcephaly v1.388 KDM2A Zornitza Stark gene: KDM2A was added
gene: KDM2A was added to Microcephaly. Sources: Expert Review Green,Other
Mode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2A were set to 41468891
Phenotypes for gene: KDM2A were set to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related
Intellectual disability syndromic and non-syndromic v1.535 Zornitza Stark Added reviews for gene KDM2A from panel Mendeliome
Growth failure v1.91 Zornitza Stark Copied gene KDM2A from panel Mendeliome
Growth failure v1.91 KDM2A Zornitza Stark gene: KDM2A was added
gene: KDM2A was added to Growth failure. Sources: Expert Review Green,Other
Mode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2A were set to 41468891
Phenotypes for gene: KDM2A were set to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related
Mendeliome v1.3910 KDM2A Zornitza Stark Publications for gene: KDM2A were set to
Mendeliome v1.3909 KDM2A Zornitza Stark reviewed gene: KDM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 41468891; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KDM2A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3909 THBD Zornitza Stark Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Bleeding disorder to Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Mendeliome v1.3908 THBD Zornitza Stark Publications for gene: THBD were set to 29500241; 19625716; 25564403; 32634856
Mendeliome v1.3907 THBD Zornitza Stark edited their review of gene: THBD: Changed publications: 29500241, 19625716, 25564403, 32634856, 39841007, 34474479; Changed phenotypes: Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Mendeliome v1.3907 THBD Zornitza Stark edited their review of gene: THBD: Added comment: Association with bleeding disorders:

PMID 39841007: identified 8 THBD variants for 6 patients with a thrombotic (C175S, A282P, L433P, P501L, G502R, and P508L) and 2 patients with a bleeding (P260A and T478I) phenotypes from a large cohort. Functional evidence supporting pathogenicity only generated for two of the variants, functional effects of L433P and potentially C175S.

PMID 34474479: single individual with homozygous missense variant, c.793T>A (p.Cys265Ser) and potentially life-threatening bleeding events.; Changed rating: GREEN; Changed phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926, Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Bleeding and Platelet Disorders v1.65 THBD Zornitza Stark Phenotypes for gene: THBD were changed from Bleeding disorder to Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Bleeding and Platelet Disorders v1.64 THBD Zornitza Stark Publications for gene: THBD were set to 32634856; 25564403; 32935436; 25049278; 27436851; 28267383; 10627464
Bleeding and Platelet Disorders v1.63 THBD Zornitza Stark edited their review of gene: THBD: Changed rating: GREEN
Bleeding and Platelet Disorders v1.63 THBD Zornitza Stark edited their review of gene: THBD: Added comment: PMID 39841007: identified 8 THBD variants for 6 patients with a thrombotic (C175S, A282P, L433P, P501L, G502R, and P508L) and 2 patients with a bleeding (P260A and T478I) phenotypes from a large cohort. Functional evidence supporting pathogenicity only generated for two of the variants, functional effects of L433P and potentially C175S.

PMID 34474479: single individual with homozygous missense variant, c.793T>A (p.Cys265Ser) and potentially life-threatening bleeding events.; Changed publications: 25564403, 32634856, 39841007, 34474479; Changed phenotypes: Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Corneal Dystrophy v1.16 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI 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
Corneal Dystrophy v1.15 TGFBI Zornitza Stark edited their review of gene: TGFBI: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.3907 TGFBI Zornitza Stark Publications for gene: TGFBI were set to 9054935
Mendeliome v1.3906 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI 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 v1.3905 TGFBI Zornitza Stark edited their review of gene: TGFBI: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.3905 TGFBI Zornitza Stark edited their review of gene: TGFBI: Added comment: Multiple individuals with biallelic variants and a more severe phenotype.; Changed publications: 9054935, 33772078
Corneal Dystrophy v1.15 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v1.14 TGFBI Zornitza Stark Publications for gene: TGFBI were set to 9054935
Corneal Dystrophy v1.13 TGFBI Zornitza Stark edited their review of gene: TGFBI: Added comment: Multiple biallelic cases reported with a more severe phenotype.; Changed publications: 9054935, 33772078; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3905 PGM3 Zornitza Stark Publications for gene: PGM3 were set to 30578875; 31231132; 33098103; 30157810; 28704707; 33193641
Mendeliome v1.3905 PGM3 Zornitza Stark Publications for gene: PGM3 were set to 30578875; 31231132; 33098103; 30157810; 28704707
Mendeliome v1.3904 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed publications: 30578875, 31231132, 33098103, 30157810, 28704707, 33193641
Mendeliome v1.3904 PGM3 Zornitza Stark commented on gene: PGM3: Note also PMID 33193641 proposes association between heterozygous missense variants and idiopathic focal epilepsy. However, two of the four variants are inherited from asymptomatic parents and reduced penetrance invoked. Borderline RED/AMBER for this association.
Peroxisomal Disorders v0.61 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Peroxisomal Disorders v0.61 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.61 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Peroxisomal Disorders v0.60 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Peroxisomal Disorders v0.59 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.58 Zornitza Stark Added reviews for gene PEX19 from panel Mendeliome
Mendeliome v1.3904 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Mendeliome v1.3903 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3902 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 39757991, 36931687, 29282281; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3902 MET Zornitza Stark Phenotypes for gene: MET were changed from Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 to Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884; Osteofibrous dysplasia, susceptibility to} 607278
Skeletal dysplasia v0.367 MET Zornitza Stark Marked gene: MET as ready
Skeletal dysplasia v0.367 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3901 MET Zornitza Stark Publications for gene: MET were set to 30777867
Mendeliome v1.3900 MET Zornitza Stark edited their review of gene: MET: Added comment: OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation. Three germline variants and one ?somatic variant identified in PMID 26637977, all abolished the splice inclusion of exon 14 in MET transcripts, which resulted in a MET receptor (MET(Δ14)) lacking a cytoplasmic juxtamembrane domain. Incomplete penetrance.

AMBER for this association.; Changed publications: 30777867, 26637977; Changed phenotypes: Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074, Papillary renal cell carcinoma MONDO:0017884, {Osteofibrous dysplasia, susceptibility to} 607278
Skeletal dysplasia v0.367 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Skeletal dysplasia v0.367 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.366 MET Zornitza Stark gene: MET was added
gene: MET was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to 26637977
Phenotypes for gene: MET were set to {Osteofibrous dysplasia, susceptibility to} 607278
Review for gene: MET was set to AMBER
Added comment: OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation.

Three germline variants and one ?somatic variant identified in PMID 26637977, all abolished the splice inclusion of exon 14 in MET transcripts, which resulted in a MET receptor (MET(Δ14)) lacking a cytoplasmic juxtamembrane domain. Incomplete penetrance.
Sources: Literature
Arthrogryposis v1.7 MET Zornitza Stark reviewed gene: MET: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.234 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Proteinuria v0.234 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Proteinuria v0.234 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Proteinuria v0.233 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Proteinuria v0.232 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3900 ACTN2 Zornitza Stark edited their review of gene: ACTN2: Added comment: Multiple cardiac and skeletal phenotypes associated with variants in this gene.

Association with cardiomyopathy is established as is the adult-onset dominant skeletal myopathy.

There are only 2 unrelated individuals reported with congenital multiple‑structured‑core disease (MsCD), with de novo heterozygous variants.

The recessive adult‑onset ACTN2‑related myopathy has been reported in 5 families (7 patients) but all with homozygous p.Arg506Gly.

These two associations are AMBER.; Changed phenotypes: Myopathy, distal, 6, adult onset MIM#618655, Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158, Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158, Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654
Fetal anomalies v1.496 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602 to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602; Human ABL1 Deficiency Syndrome (HADS)
Fetal anomalies v1.495 ABL1 Zornitza Stark Publications for gene: ABL1 were set to 33461977; 28288113
Fetal anomalies v1.494 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.493 ABL1 Zornitza Stark changed review comment from: New recessive gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; to: New recessive gene-disease association - 3 consanguineous families reported. AMBER for this association and MOI.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype
Fetal anomalies v1.493 ABL1 Zornitza Stark edited their review of gene: ABL1: Added comment: New recessive gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; Changed publications: 33461977, 28288113, 39155385, 38743093; Changed phenotypes: Congenital heart defects and skeletal malformations syndrome, MIM# 617602, Human ABL1 Deficiency Syndrome (HADS); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.516 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome (MIM# 617602) to Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Human ABL1 Deficiency Syndrome (HADS)
Congenital Heart Defect v0.515 ABL1 Zornitza Stark Publications for gene: ABL1 were set to PMID: 28288113
Congenital Heart Defect v0.514 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.513 ABL1 Zornitza Stark changed review comment from: New gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1); to: New gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype
Mendeliome v1.3900 ABL1 Zornitza Stark reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Human ABL1 Deficiency Syndrome (HADS); Mode of inheritance: None
Congenital Heart Defect v0.513 ABL1 Zornitza Stark reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39155385, 38743093; Phenotypes: Human ABL1 Deficiency Syndrome (HADS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3900 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome MIM#617602 to Congenital heart defects and skeletal malformations syndrome MIM#617602; Human ABL1 Deficiency Syndrome (HADS)
Mendeliome v1.3899 ABL1 Zornitza Stark Publications for gene: ABL1 were set to PMID: 28288113; 30855488; 32643838
Mendeliome v1.3898 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.60 SPATA16 Zornitza Stark Marked gene: SPATA16 as ready
Infertility and Recurrent Pregnancy Loss v1.60 SPATA16 Zornitza Stark Gene: spata16 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.60 Zornitza Stark Copied gene SPATA16 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.60 SPATA16 Zornitza Stark gene: SPATA16 was added
gene: SPATA16 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPATA16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA16 were set to 17847006; 27086357; 29065458
Phenotypes for gene: SPATA16 were set to Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Marked gene: NSMF as ready
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Hypogonadotropic hypogonadism v0.76 NSMF Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Differences of Sex Development v1.30 NSMF Zornitza Stark Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Differences of Sex Development v1.29 NSMF Zornitza Stark edited their review of gene: NSMF: Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967
Differences of Sex Development v1.29 NSMF Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Mendeliome v1.3897 NSMF Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 39809967, 39010903, 35316923, 34348883, 31220265; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Marked gene: DUSP6 as ready
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to 23643382; 32389901
Differences of Sex Development v1.29 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to 23643382; 32389901
Hypogonadotropic hypogonadism v0.75 Zornitza Stark Added reviews for gene DUSP6 from panel Mendeliome
Differences of Sex Development v1.28 Zornitza Stark Added reviews for gene DUSP6 from panel Mendeliome
Mendeliome v1.3897 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to 23643382
Mendeliome v1.3896 DUSP6 Zornitza Stark reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 39809967, 37108593, 33819414; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.3896 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Amber List (moderate evidence)
Mendeliome v1.3896 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3895 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Changed rating: AMBER
Mendeliome v1.3895 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Added comment: PMIDs 38860500 and 39767564: two further individuals reported, with different variant types (missense and frameshift) but little supporting evidence.; Changed publications: 23441200, 20624953, 38860500, 39767564
Deafness_IsolatedAndComplex v1.312 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to 23441200; 20624953; 27658576
Deafness_IsolatedAndComplex v1.311 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Added comment: PMIDs 38860500 and 39767564: two further individuals reported, with different variant types (missense and frameshift) but little supporting evidence.; Changed publications: 23441200, 20624953, 38860500, 39767564
Deafness_IsolatedAndComplex v1.311 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Changed rating: AMBER
Genetic Epilepsy v1.324 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Genetic Epilepsy v1.324 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Clefting disorders v0.300 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from Cleft palate; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Clefting disorders v0.299 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Clefting disorders v0.298 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: 8 individuals from 4 families reported now, only one with cleft palate.; Changed publications: 28052917, 39806532, 29500230, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Hereditary Spastic Paraplegia v1.134 Zornitza Stark Added reviews for gene SELENOI from panel Mendeliome
Genetic Epilepsy v1.324 Zornitza Stark Copied gene SELENOI from panel Mendeliome
Genetic Epilepsy v1.324 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917; 39806532; 29500230; 33454747
Phenotypes for gene: SELENOI were set to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Intellectual disability syndromic and non-syndromic v1.534 SELENOI Zornitza Stark changed review comment from: Four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature.; to: 8 individuals from four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature. Profound ID in one individual, others described as mild or showing signs of regression.
Intellectual disability syndromic and non-syndromic v1.534 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Intellectual disability syndromic and non-syndromic v1.533 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Intellectual disability syndromic and non-syndromic v1.532 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.532 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.531 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: Four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature.; Changed rating: GREEN; Changed publications: 28052917, 39806532, 29500230, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Microcephaly v1.387 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from Neurodevelopmental disorder, MONDO:0700092, SELENOI-related to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Microcephaly v1.386 SELENOI Zornitza Stark edited their review of gene: SELENOI: Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Microcephaly v1.386 SELENOI Zornitza Stark changed review comment from: PMID 39806532: fourth family reported.; to: PMID 33454747: fourth family reported.
Microcephaly v1.386 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 39806532; 29500230; 28052917
Mendeliome v1.3895 SELENOI Zornitza Stark changed review comment from: PMID 39806532: fourth family reported.; to: PMID 33454747: fourth family reported.
Microcephaly v1.385 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Microcephaly v1.385 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Microcephaly v1.384 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMID 39806532: fourth family reported.; Changed rating: GREEN; Changed publications: 39806532, 29500230, 28052917, 39806532
Mendeliome v1.3895 SELENOI Zornitza Stark Deleted their comment
Mendeliome v1.3895 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: Fourth family reported.; Changed publications: 33454747
Mendeliome v1.3895 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Mendeliome v1.3894 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917; 39806532; 29500230
Mendeliome v1.3893 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Mendeliome v1.3893 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Mendeliome v1.3892 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMID 39806532: fourth family reported.; Changed rating: GREEN; Changed publications: 28052917, 29500230, 39806532, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Hereditary Spastic Paraplegia v1.133 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917; 29500230
Hereditary Spastic Paraplegia v1.132 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals to Spastic paraplegia 81, autosomal recessive 618768
Hereditary Spastic Paraplegia v1.131 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Hereditary Spastic Paraplegia v1.131 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.130 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMIDs 33454747 and 39806532 add 2 additional unrelated families (bringing the total to 4 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed rating: GREEN; Changed publications: 28052917, 29500230, 39806532, 33454747
Microcephaly v1.384 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; microcephaly; bifid uvula in some affected individuals to Neurodevelopmental disorder, MONDO:0700092, SELENOI-related
Microcephaly v1.383 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Microcephaly v1.382 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMIDs 29500230 and 39806532 add 2 additional unrelated families (bringing the total to 3 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed publications: 39806532, 29500230, 28052917; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SELENOI-related
Mendeliome v1.3892 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Mendeliome v1.3891 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMIDs 29500230 and 39806532 add 2 additional unrelated families (bringing the total to 3 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed publications: 39806532, 29500230, 28052917; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SELENOI-related
Growth failure v1.90 GHSR Zornitza Stark Classified gene: GHSR as Green List (high evidence)
Growth failure v1.90 GHSR Zornitza Stark Gene: ghsr has been classified as Green List (High Evidence).
Growth failure v1.89 GHSR Zornitza Stark edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 25557026, 19789204, 16511605, 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562
Pituitary hormone deficiency v0.169 GHSR Zornitza Stark Publications for gene: GHSR were set to 19789204; 25557026; 16511605
Pituitary hormone deficiency v0.168 GHSR Zornitza Stark Classified gene: GHSR as Green List (high evidence)
Pituitary hormone deficiency v0.168 GHSR Zornitza Stark Gene: ghsr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.167 GHSR Zornitza Stark edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562
Pituitary hormone deficiency v0.167 Zornitza Stark Added reviews for gene GHSR from panel Mendeliome
Growth failure v1.89 Zornitza Stark Added reviews for gene GHSR from panel Mendeliome
Mendeliome v1.3891 GHSR Zornitza Stark Classified gene: GHSR as Green List (high evidence)
Mendeliome v1.3891 GHSR Zornitza Stark Gene: ghsr has been classified as Green List (High Evidence).
Mendeliome v1.3890 GHSR Zornitza Stark edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562
Cardiomyopathy_Paediatric v0.210 COA5 Zornitza Stark Publications for gene: COA5 were set to 27604308
Cardiomyopathy_Paediatric v0.209 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense.; Changed publications: 21457908, 36641477
Mitochondrial disease v1.2 COA5 Zornitza Stark Publications for gene: COA5 were set to 21457908
Mitochondrial disease v1.1 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense variant.; Changed publications: 21457908, 36641477
Mendeliome v1.3890 COA5 Zornitza Stark Publications for gene: COA5 were set to 21457908
Mendeliome v1.3889 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense variant.; Changed publications: 21457908, 36641477
Mendeliome v1.3889 TPCN2 Zornitza Stark Publications for gene: TPCN2 were set to 20197744; 26918892
Mendeliome v1.3888 TPCN2 Zornitza Stark Mode of inheritance for gene: TPCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3887 TPCN2 Zornitza Stark Classified gene: TPCN2 as Amber List (moderate evidence)
Mendeliome v1.3887 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v1.51 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Hereditary Neuropathy - complex v1.51 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Leukodystrophy v0.335 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Leukodystrophy v0.335 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.531 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Intellectual disability syndromic and non-syndromic v1.531 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Arthrogryposis v1.7 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Arthrogryposis v1.7 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Leukodystrophy v0.335 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Leukodystrophy v0.335 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Intellectual disability syndromic and non-syndromic v1.531 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.531 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Hereditary Neuropathy - complex v1.51 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Hereditary Neuropathy - complex v1.51 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Hereditary Neuropathy - complex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Arthrogryposis v1.7 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Arthrogryposis v1.7 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Arthrogryposis. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Mendeliome v1.3886 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Mendeliome v1.3886 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Mendeliome v1.3886 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Review for gene: TRMT1L was set to RED
Added comment: PMID 39786990 reports 2 individuals from a single family with an autosomal recessive homozygous missense variant c.1535C>T (p.Pro512Leu) presenting with early‑onset neurodegenerative syndrome (distal motor neuropathy, leukodystrophy, intellectual disability, hypotonia, contractures). Functional assays in patient fibroblasts show reduced acp3U tRNA modification that is rescued by wild‑type TRMT1L expression.
Sources: Literature
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark Marked gene: SORCS2 as ready
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark Gene: sorcs2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.323 Zornitza Stark Copied gene SORCS2 from panel Mendeliome
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark gene: SORCS2 was added
gene: SORCS2 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SORCS2 were set to 39810752
Phenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related
Mendeliome v1.3885 SORCS2 Zornitza Stark Marked gene: SORCS2 as ready
Mendeliome v1.3885 SORCS2 Zornitza Stark Gene: sorcs2 has been classified as Red List (Low Evidence).
Mendeliome v1.3885 SORCS2 Zornitza Stark gene: SORCS2 was added
gene: SORCS2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SORCS2 were set to 39810752
Phenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related
Review for gene: SORCS2 was set to RED
Added comment: PMID 39810752 reports one individual with a de novo heterozygous missense SORCS2 variant (c.2614C>T, p.Pro872Ser) presenting with neonatal encephalopathy and refractory seizures. Cell‑based assays demonstrate disrupted SorCS2 dimerization and mislocalization, supporting a loss‑of‑function mechanism. Variant is absent from gnomAD.
Sources: Literature
Motor Neurone Disease v1.40 PCP4 Zornitza Stark Marked gene: PCP4 as ready
Motor Neurone Disease v1.40 PCP4 Zornitza Stark Gene: pcp4 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.233 RNU6-9 Zornitza Stark Marked gene: RNU6-9 as ready
Retinitis pigmentosa v0.233 RNU6-9 Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.233 Zornitza Stark Copied gene RNU6-9 from panel Mendeliome
Retinitis pigmentosa v0.233 RNU6-9 Zornitza Stark gene: RNU6-9 was added
gene: RNU6-9 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-9 were set to 39830270
Phenotypes for gene: RNU6-9 were set to retinitis pigmentosa MONDO:0019200, RNU6-9-related
Mendeliome v1.3884 RNU6-9 Zornitza Stark Marked gene: RNU6-9 as ready
Mendeliome v1.3884 RNU6-9 Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.232 RNU6-8 Zornitza Stark Marked gene: RNU6-8 as ready
Retinitis pigmentosa v0.232 RNU6-8 Zornitza Stark Gene: rnu6-8 has been classified as Green List (High Evidence).
Mendeliome v1.3884 RNU6-9 Zornitza Stark Classified gene: RNU6-9 as Green List (high evidence)
Mendeliome v1.3884 RNU6-9 Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence).
Mendeliome v1.3883 RNU6-9 Zornitza Stark gene: RNU6-9 was added
gene: RNU6-9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-9 were set to 39830270
Phenotypes for gene: RNU6-9 were set to retinitis pigmentosa MONDO:0019200, RNU6-9-related
Review for gene: RNU6-9 was set to GREEN
Added comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset, progressive visual field loss, caused by de novo and inherited insertion variants n.55_56insG and n.56_57insG in RNU6-9. The variants act via a dominant‑negative mechanism and co‑immunoprecipitation in HeLa cells shows increased binding to SART3 and PRPF31. Note multiple RNU6 paralogues.
Sources: Literature
Retinitis pigmentosa v0.232 Zornitza Stark Copied gene RNU6-8 from panel Mendeliome
Retinitis pigmentosa v0.232 RNU6-8 Zornitza Stark gene: RNU6-8 was added
gene: RNU6-8 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-8 were set to 39830270
Phenotypes for gene: RNU6-8 were set to Retinitis pigmentosa MONDO:0019200, RNU6-8-related
Mendeliome v1.3882 RNU6-8 Zornitza Stark Marked gene: RNU6-8 as ready
Mendeliome v1.3882 RNU6-8 Zornitza Stark Gene: rnu6-8 has been classified as Green List (High Evidence).
Mendeliome v1.3882 RNU6-8 Zornitza Stark Classified gene: RNU6-8 as Green List (high evidence)
Mendeliome v1.3882 RNU6-8 Zornitza Stark Gene: rnu6-8 has been classified as Green List (High Evidence).
Mendeliome v1.3881 RNU6-8 Zornitza Stark gene: RNU6-8 was added
gene: RNU6-8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-8 were set to 39830270
Phenotypes for gene: RNU6-8 were set to Retinitis pigmentosa MONDO:0019200, RNU6-8-related
Review for gene: RNU6-8 was set to GREEN
Added comment: PMID 39830270 reports multiple individuals with a dominant insertion variant (n.55_56insG) in RNU6-8 presenting with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Co‑IP assays demonstrate increased binding of mutant U6 snRNA to SART3 and PRPF31, supporting a dominant‑negative mechanism; both de novo and inherited cases are described. Note multiple RNU6 paralogues.
Sources: Literature
Retinitis pigmentosa v0.231 RNU6-2 Zornitza Stark Marked gene: RNU6-2 as ready
Retinitis pigmentosa v0.231 RNU6-2 Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.231 Zornitza Stark Copied gene RNU6-2 from panel Mendeliome
Retinitis pigmentosa v0.231 RNU6-2 Zornitza Stark gene: RNU6-2 was added
gene: RNU6-2 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-2 were set to 39830270
Phenotypes for gene: RNU6-2 were set to Retinitis pigmentosa MONDO:0019200, RNU6-2-related
Mendeliome v1.3880 RNU6-2 Zornitza Stark Marked gene: RNU6-2 as ready
Mendeliome v1.3880 RNU6-2 Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence).
Mendeliome v1.3880 RNU6-2 Zornitza Stark Classified gene: RNU6-2 as Green List (high evidence)
Mendeliome v1.3880 RNU6-2 Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence).
Mendeliome v1.3879 RNU6-2 Zornitza Stark gene: RNU6-2 was added
gene: RNU6-2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-2 were set to 39830270
Phenotypes for gene: RNU6-2 were set to Retinitis pigmentosa MONDO:0019200, RNU6-2-related
Review for gene: RNU6-2 was set to GREEN
Added comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Insertion variants n.55_56insG and n.56_57insG in the U6 snRNA were identified, with de novo events in several cases and inherited segregation in others. Co‑IP assays demonstrate increased binding of mutant U6 to di‑snRNP proteins, indicating a dominant‑negative gain‑of‑function effect on spliceosomal assembly.
Sources: Literature
Retinitis pigmentosa v0.230 RNU6-1 Zornitza Stark Marked gene: RNU6-1 as ready
Retinitis pigmentosa v0.230 RNU6-1 Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.230 Zornitza Stark Copied gene RNU6-1 from panel Mendeliome
Retinitis pigmentosa v0.230 RNU6-1 Zornitza Stark gene: RNU6-1 was added
gene: RNU6-1 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-1 were set to 39830270
Phenotypes for gene: RNU6-1 were set to retinitis pigmentosa MONDO:0019200, RNU6-1-related
Mendeliome v1.3878 RNU6-1 Zornitza Stark Marked gene: RNU6-1 as ready
Mendeliome v1.3878 RNU6-1 Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence).
Mendeliome v1.3878 RNU6-1 Zornitza Stark Classified gene: RNU6-1 as Green List (high evidence)
Mendeliome v1.3878 RNU6-1 Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence).
Mendeliome v1.3877 RNU6-1 Zornitza Stark gene: RNU6-1 was added
gene: RNU6-1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-1 were set to 39830270
Phenotypes for gene: RNU6-1 were set to retinitis pigmentosa MONDO:0019200, RNU6-1-related
Review for gene: RNU6-1 was set to GREEN
Added comment: RNU6-1 encodes the U6 small nuclear RNA, a core spliceosomal component involved in pre-mRNA splicing. PMID 39830270 reports 99 individuals with autosomal dominant adolescent-onset progressive retinitis pigmentosa caused by heterozygous insertion variants (n.55_56insG and n.56_57insG). The disease follows a dominant inheritance pattern with de novo events confirmed in seven individuals, and functional assays demonstrate a dominant‑negative effect via increased binding of mutant U6 snRNA to SART3 and PRPF31.

Preprint.
Sources: Literature
Mendeliome v1.3876 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Mendeliome v1.3876 FAM58A Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is CCNQ
Mendeliome v1.3876 FAM58A Zornitza Stark Gene: fam58a has been classified as Green List (High Evidence).
Mendeliome v1.3876 FAM58A Zornitza Stark Tag new gene name tag was added to gene: FAM58A.
Motor Neurone Disease v1.40 Zornitza Stark Copied gene PCP4 from panel Incidentalome
Motor Neurone Disease v1.40 PCP4 Zornitza Stark gene: PCP4 was added
gene: PCP4 was added to Motor Neurone Disease. Sources: Expert Review Red,Literature
Mode of inheritance for gene: PCP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PCP4 were set to 39852553
Phenotypes for gene: PCP4 were set to Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related
Incidentalome v0.372 PCP4 Zornitza Stark Marked gene: PCP4 as ready
Incidentalome v0.372 PCP4 Zornitza Stark Gene: pcp4 has been classified as Red List (Low Evidence).
Incidentalome v0.372 PCP4 Zornitza Stark gene: PCP4 was added
gene: PCP4 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: PCP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PCP4 were set to 39852553
Phenotypes for gene: PCP4 were set to Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related
Review for gene: PCP4 was set to RED
Added comment: PMID 39852553 reports 4 individuals from a large ALS cohort with a heterozygous intronic loss‑of‑function variant. The variant creates a cryptic exon and premature termination codon; functional assays (minigene splicing, splicing‑motif analysis, neuronal knockdown and rescue) support a loss‑of‑function (haploinsufficiency) mechanism. Detailed clinical phenotyping and segregation data are limited.
Sources: Literature
Severe early-onset obesity v1.24 OTP Zornitza Stark Marked gene: OTP as ready
Severe early-onset obesity v1.24 OTP Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.24 Zornitza Stark Copied gene OTP from panel Mendeliome
Severe early-onset obesity v1.24 OTP Zornitza Stark gene: OTP was added
gene: OTP was added to Severe early-onset obesity. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: OTP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTP were set to 39813316; 29107289
Phenotypes for gene: OTP were set to Obesity disorder, MONDO:0011122, OTP-related
Mendeliome v1.3876 OTP Zornitza Stark Marked gene: OTP as ready
Mendeliome v1.3876 OTP Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3876 OTP Zornitza Stark Classified gene: OTP as Amber List (moderate evidence)
Mendeliome v1.3876 OTP Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3875 OTP Zornitza Stark gene: OTP was added
gene: OTP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OTP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTP were set to 39813316; 29107289
Phenotypes for gene: OTP were set to Obesity disorder, MONDO:0011122, OTP-related
Review for gene: OTP was set to AMBER
Added comment: PMID 29107289 reports a single individual with a heterozygous missense OTP variant (p.Q153R) presenting with severe early‑onset obesity and attention‑deficit disorder. PMID 39813316 adds five unrelated individuals carrying predicted loss‑of‑function OTP variants and confirms the Q153R case, together implicating heterozygous loss‑of‑function OTP as a cause of early‑onset severe obesity with metabolic comorbidities (type 2 diabetes, dyslipidemia, hepatic steatosis). However, individuals are ascertained from UK Biobank, hence clinical details are sparse. Mouse models with OTP haploinsufficiency or a Q153R knock‑in recapitulate hyperphagia and obesity, providing functional support.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.59 Zornitza Stark Copied gene NKAPL from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.59 NKAPL Zornitza Stark gene: NKAPL was added
gene: NKAPL was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NKAPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NKAPL were set to 39824811
Phenotypes for gene: NKAPL were set to Spermatogenic failure, MONDO:0004983, NKAPL-related
Mendeliome v1.3874 NKAPL Zornitza Stark Marked gene: NKAPL as ready
Mendeliome v1.3874 NKAPL Zornitza Stark Gene: nkapl has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3874 NKAPL Zornitza Stark Classified gene: NKAPL as Amber List (moderate evidence)
Mendeliome v1.3874 NKAPL Zornitza Stark Gene: nkapl has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3873 NKAPL Zornitza Stark gene: NKAPL was added
gene: NKAPL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NKAPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NKAPL were set to 39824811
Phenotypes for gene: NKAPL were set to Spermatogenic failure, MONDO:0004983, NKAPL-related
Review for gene: NKAPL was set to AMBER
Added comment: PMID 39824811 reports four unrelated Han Chinese men with heterozygous NKAPL variants (c.844G>A, c.896C>G, c.1040G>A and c.1046_1047delTG) presenting with non‑obstructive azoospermia. Supportive mouse model. However, note 3 of the 4 variants are present at relatively high frequencies in gnomAD.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.58 TDRD6 Zornitza Stark Marked gene: TDRD6 as ready
Infertility and Recurrent Pregnancy Loss v1.58 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.530 SPAG9 Zornitza Stark Marked gene: SPAG9 as ready
Intellectual disability syndromic and non-syndromic v1.530 SPAG9 Zornitza Stark Gene: spag9 has been classified as Red List (Low Evidence).
Cataract v0.532 SPAG9 Zornitza Stark Marked gene: SPAG9 as ready
Cataract v0.532 SPAG9 Zornitza Stark Gene: spag9 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.58 Zornitza Stark Copied gene TDRD6 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.58 TDRD6 Zornitza Stark gene: TDRD6 was added
gene: TDRD6 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TDRD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDRD6 were set to 39764564; 39331689
Phenotypes for gene: TDRD6 were set to Infertility disorder, MONDO:0005047, TDRD6-related
Mendeliome v1.3872 TDRD6 Zornitza Stark Marked gene: TDRD6 as ready
Mendeliome v1.3872 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3872 TDRD6 Zornitza Stark Classified gene: TDRD6 as Amber List (moderate evidence)
Mendeliome v1.3872 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3871 TDRD6 Zornitza Stark gene: TDRD6 was added
gene: TDRD6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TDRD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDRD6 were set to 39764564; 39331689
Phenotypes for gene: TDRD6 were set to Infertility disorder, MONDO:0005047, TDRD6-related
Review for gene: TDRD6 was set to AMBER
Added comment: PMID 39331689 reports one family and PMID 39764564 reports two families, together three unrelated families with biallelic variants in TDRD6 causing severe oligo‑astheno‑teratozoospermia (OAT) and early embryonic arrest after ICSI. Supportive animal model. Note missense variant is relatively common on gnomAD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.530 Zornitza Stark Copied gene SPAG9 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.530 SPAG9 Zornitza Stark gene: SPAG9 was added
gene: SPAG9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG9 were set to 39846792
Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related
Cataract v0.532 Zornitza Stark Copied gene SPAG9 from panel Mendeliome
Cataract v0.532 SPAG9 Zornitza Stark gene: SPAG9 was added
gene: SPAG9 was added to Cataract. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG9 were set to 39846792
Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related
Deafness_IsolatedAndComplex v1.311 PBXIP1 Zornitza Stark Marked gene: PBXIP1 as ready
Deafness_IsolatedAndComplex v1.311 PBXIP1 Zornitza Stark Gene: pbxip1 has been classified as Red List (Low Evidence).
Mendeliome v1.3870 SPAG9 Zornitza Stark Marked gene: SPAG9 as ready
Mendeliome v1.3870 SPAG9 Zornitza Stark Gene: spag9 has been classified as Red List (Low Evidence).
Mendeliome v1.3870 SPAG9 Zornitza Stark gene: SPAG9 was added
gene: SPAG9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG9 were set to 39846792
Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related
Review for gene: SPAG9 was set to RED
Added comment: PMID 39846792 reports 2 individuals from 2 families with the same biallelic loss-of-function frameshift variant in SPAG9 presenting with coarse facial features, albinism, cataract, skeletal abnormalities and severe developmental delay. Limited functional data, possible founder variant.
Sources: Literature
Deafness_IsolatedAndComplex v1.311 Zornitza Stark Copied gene PBXIP1 from panel Mendeliome
Deafness_IsolatedAndComplex v1.311 PBXIP1 Zornitza Stark gene: PBXIP1 was added
gene: PBXIP1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: PBXIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PBXIP1 were set to 39786576; 38947059
Phenotypes for gene: PBXIP1 were set to non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related
Mendeliome v1.3869 PBXIP1 Zornitza Stark Marked gene: PBXIP1 as ready
Mendeliome v1.3869 PBXIP1 Zornitza Stark Gene: pbxip1 has been classified as Red List (Low Evidence).
Mendeliome v1.3869 PBXIP1 Zornitza Stark gene: PBXIP1 was added
gene: PBXIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PBXIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PBXIP1 were set to 39786576; 38947059
Phenotypes for gene: PBXIP1 were set to non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related
Review for gene: PBXIP1 was set to RED
Added comment: One individual from a consanguineous family with a homozygous nonsense PBXIP1 variant (c.1722G>A; p.Trp574*) causing bilateral cochlear aplasia and congenital profound sensorineural hearing loss. Functional studies using iPSC‑derived organoids with knockout and knock‑in of the nonsense allele recapitulate the human phenotype, supporting a loss‑of‑function disease mechanism.
Sources: Literature
Microcephaly v1.382 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Microcephaly v1.382 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Intellectual disability syndromic and non-syndromic v1.529 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.529 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v1.493 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Fetal anomalies v1.493 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Arthrogryposis v1.6 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Arthrogryposis v1.6 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Arthrogryposis. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.3868 NUBP2 Zornitza Stark Marked gene: NUBP2 as ready
Mendeliome v1.3868 NUBP2 Zornitza Stark Gene: nubp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3868 NUBP2 Zornitza Stark Classified gene: NUBP2 as Amber List (moderate evidence)
Mendeliome v1.3868 NUBP2 Zornitza Stark Gene: nubp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3867 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: NUBP2 was set to AMBER
Added comment: PMID 39867373 reports 2 individuals from 2 unrelated families with biallelic missense variants in NUBP2 presenting with congenital primary microcephaly, intrauterine growth restriction, severe joint contractures and facial dysmorphism. A forebrain‑specific conditional Nubp2 knockout mouse recapitulates the severe microcephaly, and rescue assays show patient alleles fail to restore growth, supporting a loss‑of‑function mechanism.

Preprint.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.57 IQUB Zornitza Stark Marked gene: IQUB as ready
Infertility and Recurrent Pregnancy Loss v1.57 IQUB Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.57 Zornitza Stark Copied gene IQUB from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.57 IQUB Zornitza Stark gene: IQUB was added
gene: IQUB was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: IQUB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQUB were set to 39849482; 36355624
Phenotypes for gene: IQUB were set to Spermatogenic failure, MONDO:0004983, IQUB-related
Mendeliome v1.3866 IQUB Zornitza Stark Marked gene: IQUB as ready
Mendeliome v1.3866 IQUB Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3866 IQUB Zornitza Stark Classified gene: IQUB as Amber List (moderate evidence)
Mendeliome v1.3866 IQUB Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3865 IQUB Zornitza Stark gene: IQUB was added
gene: IQUB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQUB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQUB were set to 39849482; 36355624
Phenotypes for gene: IQUB were set to Spermatogenic failure, MONDO:0004983, IQUB-related
Review for gene: IQUB was set to AMBER
Added comment: PMID 36355624 and PMID 39849482 report 2 unrelated families with autosomal recessive loss‑of‑function variants in IQUB (c.942T>G p.Tyr314* and c.842del p.L281Pfs*28) causing male infertility due to severe asthenospermia/astenozoospermia with normal sperm morphology. Functional studies include mouse knockout/knock‑in models that recapitulate the infertility phenotype.
Sources: Literature
Defects of intrinsic and innate immunity v1.25 GCC2 Zornitza Stark Marked gene: GCC2 as ready
Defects of intrinsic and innate immunity v1.25 GCC2 Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.25 Zornitza Stark Copied gene GCC2 from panel Mendeliome
Defects of intrinsic and innate immunity v1.25 GCC2 Zornitza Stark gene: GCC2 was added
gene: GCC2 was added to Defects of intrinsic and innate immunity. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCC2 were set to 39813120
Phenotypes for gene: GCC2 were set to Inborn error of immunity, MONDO:0003778, GCC2-related
Mendeliome v1.3864 GCC2 Zornitza Stark Marked gene: GCC2 as ready
Mendeliome v1.3864 GCC2 Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3864 GCC2 Zornitza Stark Classified gene: GCC2 as Amber List (moderate evidence)
Mendeliome v1.3864 GCC2 Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3863 GCC2 Zornitza Stark gene: GCC2 was added
gene: GCC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCC2 were set to 39813120
Phenotypes for gene: GCC2 were set to Inborn error of immunity, MONDO:0003778, GCC2-related
Review for gene: GCC2 was set to AMBER
Added comment: PMID 39813120 reports two individuals from two families with compound het missense GCC2 variants presenting with natural killer cell deficiency, recurrent viral infections, and impaired lytic granule convergence. Functional assays show markedly reduced NK cell cytotoxicity and defective granule convergence, which is rescued by wild‑type GCC2 but not by the E1608G mutant.
Sources: Literature
Cataract v0.531 EXD3 Zornitza Stark Marked gene: EXD3 as ready
Cataract v0.531 EXD3 Zornitza Stark Gene: exd3 has been classified as Red List (Low Evidence).
Cataract v0.531 Zornitza Stark Copied gene EXD3 from panel Mendeliome
Cataract v0.531 EXD3 Zornitza Stark gene: EXD3 was added
gene: EXD3 was added to Cataract. Sources: Expert Review Red,Literature
Mode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXD3 were set to 37396523
Phenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related
Mendeliome v1.3862 EXD3 Zornitza Stark Marked gene: EXD3 as ready
Mendeliome v1.3862 EXD3 Zornitza Stark Gene: exd3 has been classified as Red List (Low Evidence).
Mendeliome v1.3862 EXD3 Zornitza Stark gene: EXD3 was added
gene: EXD3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXD3 were set to 37396523
Phenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related
Review for gene: EXD3 was set to RED
Added comment: PMID 37396523 reports 34 individuals from 3 unrelated families where a heterozygous missense variant c.112C>T (p.Arg38Trp) segregated in an autosomal dominant manner, presenting with bilateral posterior polar congenital cataract. No functional data. Variant is present in gnomAD in 13 individuals. Haplotype analysis suggested it had arisen independently.
Sources: Literature
Mendeliome v1.3861 EP400 Zornitza Stark reviewed gene: EP400: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.530 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Cataract v0.530 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Red List (Low Evidence).
Cataract v0.530 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from to Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101
Cataract v0.529 STXBP2 Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.528 RET Zornitza Stark Marked gene: RET as ready
Cataract v0.528 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Cataract v0.528 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.527 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Cataract v0.527 NCF1 Zornitza Stark Gene: ncf1 has been classified as Red List (Low Evidence).
Cataract v0.527 NCF1 Zornitza Stark Phenotypes for gene: NCF1 were changed from to Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700
Cataract v0.526 NCF1 Zornitza Stark Mode of inheritance for gene: NCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.525 LRBA Zornitza Stark Marked gene: LRBA as ready
Cataract v0.525 LRBA Zornitza Stark Gene: lrba has been classified as Red List (Low Evidence).
Cataract v0.525 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Cataract v0.524 LRBA Zornitza Stark Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.523 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Cataract v0.523 LIG4 Zornitza Stark Gene: lig4 has been classified as Red List (Low Evidence).
Cataract v0.523 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.522 VPS4A Zornitza Stark Marked gene: VPS4A as ready
Cataract v0.522 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Cataract v0.521 Zornitza Stark Copied gene VPS4A from panel Mendeliome
Cataract v0.521 VPS4A Zornitza Stark gene: VPS4A was added
gene: VPS4A was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to PMID: 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome MIM# 619273
Mode of pathogenicity for gene: VPS4A was set to Other
Cataract v0.520 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Cataract v0.520 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Cataract v0.520 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed publications: 36055214
Cataract v0.520 LETM1 Zornitza Stark commented on gene: LETM1: The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%). Other features included bilateral cataracts (42%), cardiomyopathy (36%), and diabetes (27%).
Mendeliome v1.3861 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed publications: 36055214
Mendeliome v1.3861 LETM1 Zornitza Stark commented on gene: LETM1: The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%). Other features included bilateral cataracts (42%), cardiomyopathy (36%), and diabetes (27%).
Cataract v0.520 Zornitza Stark Copied gene LETM1 from panel Mendeliome
Cataract v0.520 LETM1 Zornitza Stark gene: LETM1 was added
gene: LETM1 was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Cataract v0.519 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Cataract v0.519 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Cataract v0.518 DHCR7 Zornitza Stark changed review comment from: Cataracts rarely reported in SLO.; to: Cataracts in around 20%.
Cataract v0.518 DHCR7 Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN
Cataract v0.518 CDK9 Zornitza Stark Marked gene: CDK9 as ready
Cataract v0.518 CDK9 Zornitza Stark Gene: cdk9 has been classified as Green List (High Evidence).
Cataract v0.518 CDK9 Zornitza Stark reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.518 Zornitza Stark Copied gene CDK9 from panel Mendeliome
Cataract v0.518 CDK9 Zornitza Stark gene: CDK9 was added
gene: CDK9 was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK9 were set to 40954203; 33640901; 30237576; 26633546
Phenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy
Cataract v0.517 WRN Zornitza Stark Marked gene: WRN as ready
Cataract v0.517 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Cataract v0.517 WRN Zornitza Stark Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196
Cataract v0.516 WRN Zornitza Stark Publications for gene: WRN were set to
Cataract v0.515 WRN Zornitza Stark Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.514 Zornitza Stark Added reviews for gene WRN from panel Mendeliome
Cataract v0.513 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Cataract v0.513 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Cataract v0.513 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092
Cataract v0.512 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Cataract v0.511 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.510 VSX2 Zornitza Stark changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported. Cataract as part of a more complex eye phenotype.
Cataract v0.510 VSX2 Zornitza Stark edited their review of gene: VSX2: Changed phenotypes: Microphthalmia with coloboma 3, MIM# 610092
Cataract v0.510 Zornitza Stark Added reviews for gene VSX2 from panel Mendeliome
Cataract v0.509 VIM Zornitza Stark Marked gene: VIM as ready
Cataract v0.509 VIM Zornitza Stark Gene: vim has been classified as Green List (High Evidence).
Cataract v0.509 VIM Zornitza Stark Phenotypes for gene: VIM were changed from to Cataract 30, pulverulent, MIM# 116300
Cataract v0.508 VIM Zornitza Stark Publications for gene: VIM were set to
Cataract v0.507 VIM Zornitza Stark Mode of inheritance for gene: VIM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.506 VIM Zornitza Stark reviewed gene: VIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 26694549; Phenotypes: Cataract 30, pulverulent, MIM# 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.506 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Cataract v0.506 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Cataract v0.506 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Cataract v0.505 TFAP2A Zornitza Stark Publications for gene: TFAP2A were set to
Cataract v0.504 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.503 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36263936; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.503 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Cataract v0.503 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Cataract v0.503 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome MONDO:0000188; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM# 608885
Cataract v0.502 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Cataract v0.501 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.500 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492876; Phenotypes: GLUT1 deficiency syndrome MONDO:0000188, Stomatin-deficient cryohydrocytosis with neurologic defects, MIM# 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.500 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Cataract v0.500 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Cataract v0.500 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623
Cataract v0.499 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.498 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.498 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Cataract v0.498 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Cataract v0.498 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
Cataract v0.497 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.496 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.496 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Cataract v0.496 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Cataract v0.496 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Cataract v0.495 PEX6 Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.494 PEX6 Zornitza Stark reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.494 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Cataract v0.494 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Cataract v0.494 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)
Cataract v0.493 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.492 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.492 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Cataract v0.492 PEX3 Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence).
Cataract v0.492 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Cataract v0.491 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.490 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.490 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Cataract v0.490 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Cataract v0.490 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Cataract v0.489 PEX26 Zornitza Stark Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.488 PEX26 Zornitza Stark reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.488 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Cataract v0.488 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Cataract v0.488 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Cataract v0.487 PEX2 Zornitza Stark Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.486 PEX2 Zornitza Stark reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.486 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Cataract v0.486 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Cataract v0.486 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Cataract v0.485 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.484 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.484 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Cataract v0.484 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Cataract v0.484 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Cataract v0.483 PEX16 Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.482 PEX16 Zornitza Stark reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.482 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Cataract v0.482 PEX14 Zornitza Stark Gene: pex14 has been classified as Green List (High Evidence).
Cataract v0.482 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Cataract v0.481 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.480 PEX14 Zornitza Stark reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.480 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Cataract v0.480 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Cataract v0.480 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Cataract v0.479 PEX13 Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.478 PEX13 Zornitza Stark reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.478 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Cataract v0.478 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Cataract v0.478 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859
Cataract v0.477 PEX12 Zornitza Stark Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.476 PEX12 Zornitza Stark reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.57 PEX11B Zornitza Stark Publications for gene: PEX11B were set to 20301621; 22581968
Peroxisomal Disorders v0.56 PEX11B Zornitza Stark edited their review of gene: PEX11B: Added comment: Additional families reported.; Changed publications: 20301621, 22581968, 38423277, 31724321, 28129423
Mendeliome v1.3861 PEX11B Zornitza Stark Publications for gene: PEX11B were set to 20301621; 22581968
Mendeliome v1.3860 PEX11B Zornitza Stark edited their review of gene: PEX11B: Added comment: Additional families reported.; Changed rating: GREEN; Changed publications: 38423277, 31724321, 28129423; Changed phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.476 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Cataract v0.476 PEX11B Zornitza Stark Gene: pex11b has been classified as Green List (High Evidence).
Cataract v0.476 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920
Cataract v0.475 PEX11B Zornitza Stark Publications for gene: PEX11B were set to
Cataract v0.474 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.473 PEX11B Zornitza Stark reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38423277; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.473 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Cataract v0.473 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Cataract v0.473 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870
Cataract v0.472 PEX10 Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.471 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.471 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Cataract v0.471 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Cataract v0.471 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)
Cataract v0.470 PEX1 Zornitza Stark Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.469 PEX1 Zornitza Stark reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3860 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Coloboma of optic nerve - MIM# 120430; Coloboma, ocular - MIM#120200; Morning glory disc anomaly - MIM#120430; Aniridia - MIM#106210; Anterior segment dysgenesis 5, multiple subtypes - MIM#604229; Cataract with late-onset corneal dystrophy - MIM#106210; Foveal hypoplasia 1- MIM#136520; Keratitis - MIM#148190; Optic nerve hypoplasia - MIM#165550 to PAX6-related ocular dysgenesis MONDO:0800183
Mendeliome v1.3859 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v1.18 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550 to PAX6-related ocular dysgenesis MONDO:0800183
Eye Anterior Segment Abnormalities v1.17 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.469 PAX6 Zornitza Stark changed review comment from: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.; to: Variants in PAX6 cause a range of eye phenotypes, which have been lumped by ClinGen. DEFINITIVE gene-disease association.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.
Cataract v0.469 PAX6 Zornitza Stark changed review comment from: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Multiple families reported with coloboma.; to: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.
Cataract v0.469 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Cataract v0.469 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Cataract v0.469 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to PAX6-related ocular dysgenesis MONDO:0800183
Cataract v0.468 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Cataract v0.467 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.466 PAX6 Zornitza Stark edited their review of gene: PAX6: Changed phenotypes: PAX6-related ocular dysgenesis MONDO:0800183
Cataract v0.466 Zornitza Stark Added reviews for gene PAX6 from panel Anophthalmia_Microphthalmia_Coloboma
Cataract v0.465 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Cataract v0.465 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Cataract v0.465 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to Optic atrophy 3 with cataract, MIM#165300
Cataract v0.464 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Cataract v0.463 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.462 OPA3 Zornitza Stark changed review comment from: Nine families reported in the literature with a dominant disorder, which includes cataract. Variants are missense.; to: Nine families reported in the literature with a dominant disorder, which includes cataract. Variants are missense.

MODERATE by ClinGen.
Cataract v0.462 OPA3 Zornitza Stark edited their review of gene: OPA3: Changed publications: 39166438, 25159689, 28050599, 22797356, 31119193, 24136862, 15342707
Cataract v0.462 OPA3 Zornitza Stark reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39166438, 25159689; Phenotypes: Optic atrophy 3 with cataract, MIM#165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.462 OCRL Zornitza Stark Marked gene: OCRL as ready
Cataract v0.462 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Cataract v0.462 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Oculocerebrorenal syndrome MONDO:0010645
Cataract v0.461 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.460 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocerebrorenal syndrome MONDO:0010645; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.460 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Cataract v0.460 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Cataract v0.460 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Cataract v0.459 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Cataract v0.458 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.457 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 40534807; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.457 MIP Zornitza Stark Marked gene: MIP as ready
Cataract v0.457 MIP Zornitza Stark Gene: mip has been classified as Green List (High Evidence).
Cataract v0.457 MIP Zornitza Stark Phenotypes for gene: MIP were changed from to Cataract 15, multiple types, MIM# 615274
Cataract v0.456 MIP Zornitza Stark Publications for gene: MIP were set to
Cataract v0.455 MIP Zornitza Stark Mode of inheritance for gene: MIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.454 Zornitza Stark Added reviews for gene MIP from panel Mendeliome
Cataract v0.453 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Cataract v0.453 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Cataract v0.453 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Cataract v0.452 MAN2B1 Zornitza Stark Publications for gene: MAN2B1 were set to
Cataract v0.451 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.450 MAN2B1 Zornitza Stark changed review comment from: Well established gene-disease association. Clinical features include intellectual disability, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed motor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment.; to: Well established gene-disease association. Clinical features include intellectual disability, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed motor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment.

Lenticular spoke-like opacities are part of the phenotype.
Cataract v0.450 Zornitza Stark Added reviews for gene MAN2B1 from panel Mendeliome
Cataract v0.449 LSS Zornitza Stark Marked gene: LSS as ready
Cataract v0.449 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Cataract v0.449 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Cataract v0.449 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Cataract v0.449 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis MIM#213700
Cataract v0.448 CYP27A1 Zornitza Stark Publications for gene: CYP27A1 were set to
Cataract v0.447 CYP27A1 Zornitza Stark Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.446 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.3859 MAF Zornitza Stark Phenotypes for gene: MAF were changed from Ayme-Gripp syndrome (MIM#601088) to Cataract 21, multiple types, MIM# 610202; Ayme-Gripp syndrome, MIM# 601088
Mendeliome v1.3858 MAF Zornitza Stark Publications for gene: MAF were set to 30160832; 34643041
Cataract v0.445 MAF Zornitza Stark Marked gene: MAF as ready
Cataract v0.445 MAF Zornitza Stark Gene: maf has been classified as Green List (High Evidence).
Cataract v0.445 MAF Zornitza Stark Phenotypes for gene: MAF were changed from to Cataract 21, multiple types, MIM# 610202; Ayme-Gripp syndrome, MIM# 601088
Cataract v0.444 MAF Zornitza Stark Publications for gene: MAF were set to
Cataract v0.443 MAF Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3857 Zornitza Stark Added reviews for gene MAF from panel Cataract
Cataract v0.442 MAF Zornitza Stark reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927621; Phenotypes: Cataract 21, multiple types, MIM# 610202, Ayme-Gripp syndrome, MIM# 601088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.442 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Cataract v0.442 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Cataract v0.442 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Cataract v0.441 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Cataract v0.440 INPP5K Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.439 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Muscular dystrophy and myopathy_Paediatric v1.115 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Muscular dystrophy and myopathy_Paediatric v1.115 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.115 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Muscular dystrophy and myopathy_Paediatric v1.114 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Muscular dystrophy and myopathy_Paediatric v1.113 INPP5K Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.112 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Cataract v0.439 Zornitza Stark Added reviews for gene INPP5K from panel Mendeliome
Mendeliome v1.3856 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Cataract v0.438 HMX1 Zornitza Stark Marked gene: HMX1 as ready
Cataract v0.438 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Cataract v0.438 HMX1 Zornitza Stark Phenotypes for gene: HMX1 were changed from to Oculoauricular syndrome, MIM#612109
Cataract v0.437 HMX1 Zornitza Stark Publications for gene: HMX1 were set to
Cataract v0.436 HMX1 Zornitza Stark Mode of inheritance for gene: HMX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal