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Intellectual disability syndromic and non-syndromic v0.4000 LTBP1 Zornitza Stark Gene: ltbp1 has been classified as Green List (High Evidence).
Cutis Laxa v0.8 LTBP1 Zornitza Stark Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451
Intellectual disability syndromic and non-syndromic v0.4000 LTBP1 Zornitza Stark Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451
Mendeliome v0.8487 LTBP1 Zornitza Stark Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451
Craniosynostosis v1.24 LTBP1 Zornitza Stark Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451
Aortopathy_Connective Tissue Disorders v1.41 LTBP1 Zornitza Stark Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451
Aortopathy_Connective Tissue Disorders v1.40 LTBP1 Zornitza Stark edited their review of gene: LTBP1: Changed phenotypes: cutis laxa, autosomal recessive, type IIE MIM#619451
Syndromic Retinopathy v0.178 STX3 Zornitza Stark Marked gene: STX3 as ready
Syndromic Retinopathy v0.178 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.178 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446 to Retinal dystrophy and microvillus inclusion disease, MIM#619446
Syndromic Retinopathy v0.177 STX3 Zornitza Stark Classified gene: STX3 as Green List (high evidence)
Syndromic Retinopathy v0.177 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.176 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Retinal dystrophy and microvillus inclusion disease, MIM#619446
Syndromic Retinopathy v0.176 STX3 Zornitza Stark gene: STX3 was added
gene: STX3 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX3 were set to 24726755; 29266534; 25358429; 29282386; 30909251; 29282386
Phenotypes for gene: STX3 were set to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446
Review for gene: STX3 was set to GREEN
Added comment: At least 5 unrelated families reported. STX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea.
Sources: Expert Review
Mendeliome v0.8486 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445 to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446
Mendeliome v0.8485 STX3 Zornitza Stark changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported.

STX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea.
Congenital Diarrhoea v1.5 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445 to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446
Mendeliome v0.8485 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445, Retinal dystrophy and microvillus inclusion disease, MIM#619446
Congenital Diarrhoea v1.4 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445, Retinal dystrophy and microvillus inclusion disease, MIM#619446
Congenital Diarrhoea v1.4 STX3 Zornitza Stark changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported.

STX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea.
Mendeliome v0.8485 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease to Microvillus inclusion disease, MIM#619445
Mendeliome v0.8484 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445
Congenital Diarrhoea v1.4 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease to Microvillus inclusion disease, MIM#619445
Congenital Diarrhoea v1.3 STX3 Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445
Complement Deficiencies v0.43 C1QB Zornitza Stark Marked gene: C1QB as ready
Complement Deficiencies v0.43 C1QB Zornitza Stark Gene: c1qb has been classified as Green List (High Evidence).
Complement Deficiencies v0.43 C1QB Zornitza Stark Phenotypes for gene: C1QB were changed from to C1q deficiency, MIM# 613652
Complement Deficiencies v0.42 C1QB Zornitza Stark Publications for gene: C1QB were set to 2894352; 17513176
Complement Deficiencies v0.42 C1QB Zornitza Stark Publications for gene: C1QB were set to
Complement Deficiencies v0.41 C1QB Zornitza Stark Mode of inheritance for gene: C1QB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.40 C1QB Zornitza Stark reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2894352, 17513176; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8484 C1QA Zornitza Stark Marked gene: C1QA as ready
Mendeliome v0.8484 C1QA Zornitza Stark Gene: c1qa has been classified as Green List (High Evidence).
Mendeliome v0.8484 C1QA Zornitza Stark Phenotypes for gene: C1QA were changed from to C1q deficiency, MIM# 613652
Mendeliome v0.8483 C1QA Zornitza Stark Publications for gene: C1QA were set to
Mendeliome v0.8482 C1QA Zornitza Stark Mode of inheritance for gene: C1QA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8481 C1QA Zornitza Stark reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9225968, 21654842, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.40 C1QA Zornitza Stark Marked gene: C1QA as ready
Complement Deficiencies v0.40 C1QA Zornitza Stark Gene: c1qa has been classified as Green List (High Evidence).
Complement Deficiencies v0.40 C1QA Zornitza Stark Phenotypes for gene: C1QA were changed from to C1q deficiency, MIM# 613652
Complement Deficiencies v0.39 C1QA Zornitza Stark Publications for gene: C1QA were set to
Complement Deficiencies v0.38 C1QA Zornitza Stark Mode of inheritance for gene: C1QA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.37 C1QA Zornitza Stark Mode of inheritance for gene: C1QA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.36 C1QA Zornitza Stark reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9225968, 21654842, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.232 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Combined Immunodeficiency v0.232 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.232 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked MIM# 305000; Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, immunodeficiency; aplastic anaemia; thrombocytopaenia; neurodevelopmental delay; cerebellar hypoplasia; opportunistic infections
Mendeliome v0.8481 CIITA Zornitza Stark Marked gene: CIITA as ready
Mendeliome v0.8481 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.231 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Mendeliome v0.8481 CIITA Zornitza Stark Phenotypes for gene: CIITA were changed from to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920; varied ID; bronchiolitis; pneumonia; severe autoimmune cytopaenia; CD4 T-cell lymphopaenia; hypogammaglobulinemia; absence of antigen-induced immune response; chronic diarrhoea; recurrent respiratory infections; recurrent gastroenteritis; failure to thrive; liver/biliary tract disease
Combined Immunodeficiency v0.230 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8480 CIITA Zornitza Stark Publications for gene: CIITA were set to
Combined Immunodeficiency v0.229 CIITA Zornitza Stark Marked gene: CIITA as ready
Combined Immunodeficiency v0.229 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.229 DKC1 Danielle Ariti changed review comment from: More than 20 affected unrelated individuals have been reported; multiple mouse models.

Heterozygous non-frameshift deletion variants and missense variants have been identified in DKC1 in these individuals, including the most common p.Ala353Val.

Typically presents with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure and immunodeficiencies.

PMID: 9663235 (1998) partial expression in heterozygous females displayed early pigmentary skin changes; to: More than 20 affected unrelated individuals have been reported; multiple mouse models.

Heterozygous deletion variants and missense variants have been identified in DKC1 in these individuals, including the most common p.Ala353Val.

Typically presents with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure and immunodeficiencies.

PMID: 9663235 (1998) partial expression in heterozygous females displayed early pigmentary skin changes
Mendeliome v0.8479 CIITA Zornitza Stark Mode of inheritance for gene: CIITA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.229 CIITA Zornitza Stark Phenotypes for gene: CIITA were changed from to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920; varied ID; bronchiolitis; pneumonia; severe autoimmune cytopaenia; CD4 T-cell lymphopaenia; hypogammaglobulinemia; absence of antigen-induced immune response; chronic diarrhoea; recurrent respiratory infections; recurrent gastroenteritis; failure to thrive; liver/biliary tract disease
Mendeliome v0.8478 CIITA Zornitza Stark reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893, 9099848, 11862382, 28676232, 24789686, 20197681, 11466404, 15821736, 12910265; Phenotypes: Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920, varied ID, bronchiolitis, pneumonia, severe autoimmune cytopaenia, CD4 T-cell lymphopaenia, hypogammaglobulinemia, absence of antigen-induced immune response, chronic diarrhoea, recurrent respiratory infections, recurrent gastroenteritis, failure to thrive, liver/biliary tract disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.228 CIITA Zornitza Stark Publications for gene: CIITA were set to
Combined Immunodeficiency v0.227 CIITA Zornitza Stark Mode of inheritance for gene: CIITA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8478 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Mendeliome v0.8478 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.226 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Combined Immunodeficiency v0.226 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.226 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome MIM# 214800; Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370; Kallmann syndrome; hypogonadotropic hypogonadism with or without anosmia (HH); Coloboma of the eye; heart anomaly; choanal atresia; intellectual disability; genital and ear anomalies, Deafness; Delayed pubertal development; CNS malformation; Cleft lip; SCID-like features; lymphopaenia; sever T-cell deficiency; hypogammaglobulinaemia
Combined Immunodeficiency v0.225 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Combined Immunodeficiency v0.224 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8478 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours
Combined Immunodeficiency v0.223 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours
Mendeliome v0.8477 CD40LG Zornitza Stark Publications for gene: CD40LG were set to
Mendeliome v0.8476 CD40LG Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.222 CD40LG Zornitza Stark Publications for gene: CD40LG were set to
Combined Immunodeficiency v0.221 CD40LG Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8475 CD3G Zornitza Stark Marked gene: CD3G as ready
Mendeliome v0.8475 CD3G Zornitza Stark Gene: cd3g has been classified as Green List (High Evidence).
Mendeliome v0.8475 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from to Immunodeficiency 17, CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.
Combined Immunodeficiency v0.220 CD3G Zornitza Stark Marked gene: CD3G as ready
Combined Immunodeficiency v0.220 CD3G Zornitza Stark Gene: cd3g has been classified as Green List (High Evidence).
Mendeliome v0.8474 CD3G Zornitza Stark Publications for gene: CD3G were set to
Mendeliome v0.8473 CD3G Zornitza Stark Mode of inheritance for gene: CD3G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.220 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea. to Immunodeficiency 17, CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.
Combined Immunodeficiency v0.219 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from to Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.
Combined Immunodeficiency v0.218 CD3G Zornitza Stark Publications for gene: CD3G were set to
Combined Immunodeficiency v0.217 CD3G Zornitza Stark Mode of inheritance for gene: CD3G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.216 DKC1 Danielle Ariti reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9590285, 24914498, 22664374, 10700698, 21931702, 15842668, 12400016, 15240872, 9663235; Phenotypes: Dyskeratosis congenita, X-linked MIM# 305000, Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, immunodeficiency, aplastic anaemia, thrombocytopaenia, neurodevelopmental delay, cerebellar hypoplasia, opportunistic infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.216 CIITA Danielle Ariti reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893, 9099848, 11862382, 28676232, 24789686, 20197681, 11466404, 15821736, 12910265; Phenotypes: Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920, varied ID, bronchiolitis, pneumonia, severe autoimmune cytopaenia, CD4 T-cell lymphopaenia, hypogammaglobulinemia, absence of antigen-induced immune response, chronic diarrhoea, recurrent respiratory infections, recurrent gastroenteritis, failure to thrive, liver/biliary tract disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8472 WDR26 Zornitza Stark Marked gene: WDR26 as ready
Mendeliome v0.8472 WDR26 Zornitza Stark Gene: wdr26 has been classified as Green List (High Evidence).
Mendeliome v0.8472 WDR26 Zornitza Stark Mode of inheritance for gene: WDR26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8471 WDR26 Zornitza Stark Publications for gene: WDR26 were set to
Mendeliome v0.8470 WDR26 Zornitza Stark Phenotypes for gene: WDR26 were changed from to Skraban-Deardorff syndrome, MIM#617616
Intellectual disability syndromic and non-syndromic v0.3999 WDR26 Zornitza Stark Marked gene: WDR26 as ready
Intellectual disability syndromic and non-syndromic v0.3999 WDR26 Zornitza Stark Gene: wdr26 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3999 WDR26 Zornitza Stark Phenotypes for gene: WDR26 were changed from to Skraban-Deardorff syndrome, MIM#617616
Intellectual disability syndromic and non-syndromic v0.3998 WDR26 Zornitza Stark Publications for gene: WDR26 were set to
Intellectual disability syndromic and non-syndromic v0.3997 WDR26 Zornitza Stark Mode of inheritance for gene: WDR26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3996 DDB1 Zornitza Stark Phenotypes for gene: DDB1 were changed from Syndromic intellectual disability to White-Kernohan syndrome, MIM# 619426; Syndromic intellectual disability
Intellectual disability syndromic and non-syndromic v0.3995 DDB1 Zornitza Stark edited their review of gene: DDB1: Changed phenotypes: White-Kernohan syndrome, MIM# 619426, Syndromic intellectual disability
Mendeliome v0.8469 DDB1 Zornitza Stark Phenotypes for gene: DDB1 were changed from Syndromic intellectual disability to White-Kernohan syndrome, MIM# 619426; Syndromic intellectual disability
Mendeliome v0.8468 DDB1 Zornitza Stark edited their review of gene: DDB1: Changed phenotypes: White-Kernohan syndrome, MIM# 619426, Syndromic intellectual disability
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Marked gene: GPAA1 as ready
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Gene: gpaa1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Classified gene: GPAA1 as Amber List (moderate evidence)
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Gene: gpaa1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.2 GPAA1 Bryony Thompson gene: GPAA1 was added
gene: GPAA1 was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: GPAA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPAA1 were set to 32533362
Phenotypes for gene: GPAA1 were set to Vascular anomalies
Review for gene: GPAA1 was set to AMBER
Added comment: A single family identified with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. 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.
Sources: Literature
Combined Immunodeficiency v0.216 CHD7 Danielle Ariti reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15300250, 26551301, 26538304, 20186815, 17334657; Phenotypes: CHARGE syndrome MIM# 214800, Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370, Kallmann syndrome, hypogonadotropic hypogonadism with or without anosmia (HH), Coloboma of the eye, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, Deafness, Delayed pubertal development, CNS malformation, Cleft lip, SCID-like features, lymphopaenia, sever T-cell deficiency, hypogammaglobulinaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8468 CD40LG Danielle Ariti reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: mmunodeficiency, X-linked, with hyper-IgM MIM# 308230, Severe opportunistic infections (recurrent), idiopathic neutropaenia, dysgammaglobulinaemia hepatitis, cholangitis, cholangiocarcinoma, autoimmune blood cytopenias, haemolytic anaemia, thrombocytopaenia, diarrhoea, peripheral neuroectodermal tumours; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.216 CD40LG Danielle Ariti reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230, Severe opportunistic infections (recurrent), idiopathic neutropaenia, dysgammaglobulinaemia hepatitis, cholangitis, cholangiocarcinoma, autoimmune blood cytopenias, haemolytic anaemia, thrombocytopaenia, diarrhoea, peripheral neuroectodermal tumours; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8468 CD3G Danielle Ariti reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: None; Publications: 2872416, 1635567, 17277165, 23590417, 24910257, 18482219, 31921117, 11160319; Phenotypes: Immunodeficiency 17, CD3 gamma deficient MIM# 615607, immune deficiency, autoimmunity, failure to thrive, recurrent gastrointestinal infections, recurrent respiratory infections, autoimmune haemolytic anaemia, bronchiolitis obliterans, low CD3 complex, partial T lymphocytopenia, intractable diarrhoea.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.216 CD3G Danielle Ariti reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: None; Publications: 2872416, 1635567, 17277165, 23590417, 24910257, 18482219, 31921117, 11160319; Phenotypes: Immunodeficiency 17, CD3 gamma deficient MIM# 615607, immune deficiency, autoimmunity, failure to thrive, recurrent gastrointestinal infections, recurrent respiratory infections, autoimmune haemolytic anaemia, Bronchiolitis obliterans, low CD3 complex, partial T lymphocytopenia, intractable diarrhoea.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8468 WDR26 Paul De Fazio reviewed gene: WDR26: Rating: GREEN; Mode of pathogenicity: None; Publications: 28686853, 33506510, 33675273; Phenotypes: Skraban-Deardorff syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3995 WDR26 Paul De Fazio reviewed gene: WDR26: Rating: GREEN; Mode of pathogenicity: None; Publications: 28686853, 33506510, 33675273; Phenotypes: Skraban-Deardorff syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3995 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Intellectual disability syndromic and non-syndromic v0.3995 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3995 ABCD4 Zornitza Stark Phenotypes for gene: ABCD4 were changed from to Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857
Intellectual disability syndromic and non-syndromic v0.3994 ABCD4 Zornitza Stark Publications for gene: ABCD4 were set to
Intellectual disability syndromic and non-syndromic v0.3993 ABCD4 Zornitza Stark Mode of inheritance for gene: ABCD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3992 ABCD4 Zornitza Stark reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22922874, 31113616, 30651581, 28572511, 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8468 ABCD4 Zornitza Stark Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511
Mendeliome v0.8467 ABCD4 Zornitza Stark reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8467 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Mendeliome v0.8467 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Green List (High Evidence).
Mendeliome v0.8467 ABCD4 Zornitza Stark Phenotypes for gene: ABCD4 were changed from to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Mendeliome v0.8466 ABCD4 Zornitza Stark Publications for gene: ABCD4 were set to
Mendeliome v0.8465 ABCD4 Zornitza Stark Mode of inheritance for gene: ABCD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8464 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Mendeliome v0.8464 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Mendeliome v0.8464 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from to Adrenoleukodystrophy MIM#300100
Mendeliome v0.8463 ABCD1 Zornitza Stark Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8462 ABCD1 Zornitza Stark changed review comment from: Ataxia is a feature of this progressive disorder.
Sources: Expert list; to: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.8462 RAD21 Zornitza Stark Phenotypes for gene: RAD21 were changed from ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701; Holoprocencephaly to Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701; Holoprocencephaly
Mendeliome v0.8461 RAD21 Zornitza Stark Publications for gene: RAD21 were set to 31334757; 25575569; 32193685; 31704779
Mendeliome v0.8460 RAD21 Zornitza Stark reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14638363, 32193685, 25575569; Phenotypes: Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.49 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Gastrointestinal neuromuscular disease v0.49 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.49 RAD21 Zornitza Stark Phenotypes for gene: RAD21 were changed from Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities to Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities
Gastrointestinal neuromuscular disease v0.48 RAD21 Zornitza Stark Publications for gene: RAD21 were set to
Gastrointestinal neuromuscular disease v0.47 RAD21 Zornitza Stark reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14638363, 32193685, 25575569; Phenotypes: Mungan syndrome, MIM# 611376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3992 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Intellectual disability syndromic and non-syndromic v0.3992 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3992 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia
Intellectual disability syndromic and non-syndromic v0.3991 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Intellectual disability syndromic and non-syndromic v0.3990 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3989 CCBE1 Zornitza Stark reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510, lymphangiectasia and lymphoedema, facial abnormalities, dysmorphic features, hypoalbuminaemia, intellectual disability, hypoglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8460 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Mendeliome v0.8460 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Mendeliome v0.8460 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia
Mendeliome v0.8459 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Mendeliome v0.8458 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8457 CCBE1 Zornitza Stark reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510, lymphangiectasia and lymphoedema, facial abnormalities, dysmorphic features, hypoalbuminaemia, intellectual disability, hypoglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8457 CD27 Zornitza Stark Marked gene: CD27 as ready
Mendeliome v0.8457 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Mendeliome v0.8457 CD27 Zornitza Stark Phenotypes for gene: CD27 were changed from to Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia
Mendeliome v0.8456 CD27 Zornitza Stark Publications for gene: CD27 were set to
Mendeliome v0.8455 CD27 Zornitza Stark Mode of inheritance for gene: CD27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8454 CD27 Zornitza Stark reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, CD27-deficiency MIM# 615122, hepatosplenomegaly, reduced CD8+ T-cell function, lymphadenopathy, hepatosplenomegaly, fever, increased susceptibility to EBV infection, aplastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.306 ZNF148 Zornitza Stark Marked gene: ZNF148 as ready
Callosome v0.306 ZNF148 Zornitza Stark Gene: znf148 has been classified as Green List (High Evidence).
Callosome v0.306 ZNF148 Zornitza Stark Classified gene: ZNF148 as Green List (high evidence)
Callosome v0.306 ZNF148 Zornitza Stark Gene: znf148 has been classified as Green List (High Evidence).
Callosome v0.305 ZNF148 Zornitza Stark gene: ZNF148 was added
gene: ZNF148 was added to Callosome. Sources: Literature
Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF148 were set to 27964749
Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; MIM#617260
Review for gene: ZNF148 was set to GREEN
Added comment: Four unrelated individuals with de novo heterozygous nonsense or frameshift mutations (all resulting in premature termination codons in the last exon of ZNF148, predicted to escape nonsense-mediated mRNA decay and result in expression of a truncated protein). Phenotype characterised by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional studies to date.
Sources: Literature
Mendeliome v0.8454 ZNF148 Zornitza Stark Marked gene: ZNF148 as ready
Mendeliome v0.8454 ZNF148 Zornitza Stark Gene: znf148 has been classified as Green List (High Evidence).
Mendeliome v0.8454 ZNF148 Zornitza Stark Classified gene: ZNF148 as Green List (high evidence)
Mendeliome v0.8454 ZNF148 Zornitza Stark Gene: znf148 has been classified as Green List (High Evidence).
Mendeliome v0.8453 RAC3 Zornitza Stark Marked gene: RAC3 as ready
Mendeliome v0.8453 RAC3 Zornitza Stark Gene: rac3 has been classified as Green List (High Evidence).
Mendeliome v0.8453 RAC3 Zornitza Stark Classified gene: RAC3 as Green List (high evidence)
Mendeliome v0.8453 RAC3 Zornitza Stark Gene: rac3 has been classified as Green List (High Evidence).
Mendeliome v0.8452 PCLO Zornitza Stark Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027
Mendeliome v0.8451 PCLO Zornitza Stark Publications for gene: PCLO were set to
Mendeliome v0.8450 PCLO Zornitza Stark Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.16 PCLO Zornitza Stark Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027
Cerebellar and Pontocerebellar Hypoplasia v1.15 PCLO Zornitza Stark Publications for gene: PCLO were set to
Cerebellar and Pontocerebellar Hypoplasia v1.14 PCLO Zornitza Stark Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8449 ZNF148 Natalie Tan gene: ZNF148 was added
gene: ZNF148 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF148 were set to PMID: 27964749
Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; MIM#617260
Review for gene: ZNF148 was set to GREEN
Added comment: Four unrelated individuals with de novo heterozygous nonsense or frameshift mutations (all resulting in premature termination codons in the last exon of ZNF148, predicted to escape nonsense-mediated mRNA decay and result in expression of a truncated protein). Phenotype characterised by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional studies to date.
Sources: Literature
Mendeliome v0.8449 RAC3 Natalie Tan gene: RAC3 was added
gene: RAC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAC3 were set to PMID: 30293988; 29276006
Phenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Review for gene: RAC3 was set to GREEN
Added comment: Multiple unrelated individuals with heterozygous missense variants and a concordant phenotype (severe intellectual disability with brain malformations). No functional studies to date.
Sources: Literature
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark edited their review of gene: EDN3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.47 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome w/pigmentary abnormalities to Waardenburg syndrome, type 4B, MIM# 613265
Gastrointestinal neuromuscular disease v0.46 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8449 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Mendeliome v0.8449 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Green List (High Evidence).
Mendeliome v0.8449 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Mendeliome v0.8448 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Mendeliome v0.8447 CHRNA4 Zornitza Stark Mode of pathogenicity for gene: CHRNA4 was changed from to Other
Mendeliome v0.8446 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8445 CHRNA4 Zornitza Stark reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14623738, 23114665; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1148 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Genetic Epilepsy v0.1148 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1148 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Genetic Epilepsy v0.1147 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Genetic Epilepsy v0.1146 CHRNA4 Zornitza Stark Mode of pathogenicity for gene: CHRNA4 was changed from to Other
Genetic Epilepsy v0.1145 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.216 CD27 Zornitza Stark Marked gene: CD27 as ready
Combined Immunodeficiency v0.216 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.216 CD27 Zornitza Stark Phenotypes for gene: CD27 were changed from to Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia
Combined Immunodeficiency v0.215 CD27 Zornitza Stark Publications for gene: CD27 were set to
Combined Immunodeficiency v0.214 CD27 Zornitza Stark Mode of inheritance for gene: CD27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.213 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Combined Immunodeficiency v0.213 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.213 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia
Combined Immunodeficiency v0.212 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Combined Immunodeficiency v0.212 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.211 BLM Zornitza Stark Marked gene: BLM as ready
Combined Immunodeficiency v0.211 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.211 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies
Combined Immunodeficiency v0.210 BLM Zornitza Stark Publications for gene: BLM were set to
Combined Immunodeficiency v0.209 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1144 CHRNA4 Melanie Marty reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14623738, 23114665; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.208 CD27 Danielle Ariti reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, CD27-deficiency MIM# 615122, hepatosplenomegaly, reduced CD8+ T-cell function, lymphadenopathy, hepatosplenomegaly, fever, increased susceptibility to EBV infection, aplastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.208 CCBE1 Danielle Ariti reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510, lymphangiectasia and lymphoedema, facial abnormalities, dysmorphic features, hypoalbuminaemia, intellectual disability, hypoglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.208 BLM Danielle Ariti reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900, Short stature, dysmorphic facies, sun-sensitive, immunoglobulin deficiency (IgA, IgG, IgM), erythema, marrow failure, leukaemia, lymphoma, chromosomal instability, predisposition to malignancies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.0 ZPR1 Zornitza Stark gene: ZPR1 was added
gene: ZPR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPR1 were set to 29851065
Phenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Growth failure v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 25728776
Phenotypes for gene: XRCC4 were set to short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism
Growth failure v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome
Growth failure v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: THRB was set to Unknown
Growth failure v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.0 STAT5B Zornitza Stark gene: STAT5B was added
gene: STAT5B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 21548021; 17704776; 19443465; 19366998; 21649642
Phenotypes for gene: SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome
Growth failure v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SOX3 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: SOX3 were set to 15800844
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, OMIM:312000; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
Mode of pathogenicity for gene: SOX3 was set to Other - please provide details in the comments
Growth failure v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia De Lange
Growth failure v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, MONDO:0010370; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
Growth failure v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Growth failure v0.0 SHOX2 Zornitza Stark gene: SHOX2 was added
gene: SHOX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SHOX2 was set to Unknown
Growth failure v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
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, 617053
Mode of pathogenicity for gene: SAMD9 was set to Other - please provide details in the comments
Growth failure v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
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)
Phenotypes for gene: RPS6KA3 were set to Coffin Lowry
Growth failure v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25316788
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Growth failure v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow
Growth failure v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 21474760
Phenotypes for gene: RNU4ATAC were set to MOPD I
Growth failure v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 24389050, 21998596
Phenotypes for gene: RBBP8 were set to seckel syndrome but with proportionate head/height impairment, cafe au lair macules
Growth failure v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal Akinesia Deformation Sequence; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150
Growth failure v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD21 were set to Cornelia De Lange
Growth failure v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined
Growth failure v0.0 PROKR2 Zornitza Stark gene: PROKR2 was added
gene: PROKR2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROKR2 were set to 22319038
Phenotypes for gene: PROKR2 were set to hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy
Growth failure v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency
Growth failure v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25480986
Phenotypes for gene: PNPLA6 were set to Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
Growth failure v0.0 PITX2 Zornitza Stark gene: PITX2 was added
gene: PITX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME
Growth failure v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 18157127; 18174396
Phenotypes for gene: PCNT were set to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720; MOPDII
Growth failure v0.0 PAPPA2 Zornitza Stark gene: PAPPA2 was added
gene: PAPPA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAPPA2 were set to 26902202
Phenotypes for gene: PAPPA2 were set to Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density
Growth failure v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 18728160
Phenotypes for gene: OTX2 were set to Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
Growth failure v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC6 were set to 21358632
Phenotypes for gene: ORC6 were set to Meier-Gorlin; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin syndrome 3, 613803
Growth failure v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC4 were set to 21358632
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin
Growth failure v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC1 were set to 21358632
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690; microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia; Meier-Gorlin
Growth failure v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia De Lange
Growth failure v0.0 MCM5 Zornitza Stark gene: MCM5 was added
gene: MCM5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8
Growth failure v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG4 were set to 11779494, 16088910,
Phenotypes for gene: LIG4 were set to microcephaly, growth retardation, immunodeficiency, developmental delay
Growth failure v0.0 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 1581963, 1351188
Phenotypes for gene: LIG1 were set to immunodeficiency, sun sensitivity, growth reatrdation
Growth failure v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX4 were set to 11567216, 18073311
Phenotypes for gene: LHX4 were set to hypopituitarism
Growth failure v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to GH, TSH, LH, FSH, PRL deficiencies
Growth failure v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2D were set to Kabuki
Growth failure v0.0 KHDC3L Zornitza Stark gene: KHDC3L was added
gene: KHDC3L was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KHDC3L were set to 29574422
Phenotypes for gene: KHDC3L were set to pregnancy loss; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; Failure to thrive; IUGR
Growth failure v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: KDM6A were set to Kabuki
Growth failure v0.0 INTS8 Zornitza Stark gene: INTS8 was added
gene: INTS8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS8 were set to 28542170
Phenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
Growth failure v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism
Growth failure v0.0 IGFBP3 Zornitza Stark gene: IGFBP3 was added
gene: IGFBP3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IGFBP3 was set to Unknown
Publications for gene: IGFBP3 were set to 10364674
Phenotypes for gene: IGFBP3 were set to Silver Russell Syndrome
Growth failure v0.0 IGFBP1 Zornitza Stark gene: IGFBP1 was added
gene: IGFBP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IGFBP1 was set to Unknown
Publications for gene: IGFBP1 were set to 10364674
Phenotypes for gene: IGFBP1 were set to Silver-Russell Syndrome
Growth failure v0.0 IGFALS Zornitza Stark gene: IGFALS was added
gene: IGFALS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGFALS were set to 14762184
Phenotypes for gene: IGFALS were set to very low IGF-I levels; Short stature; delayed puberty
Growth failure v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 25664603
Phenotypes for gene: IFT172 were set to GH deficiency, retinopathy, metaphyseal dysplasia
Growth failure v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septo-optic dysplasia; variable involvement of pituitary hormones
Growth failure v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to Cornelia De Lange
Growth failure v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: H19 was set to Unknown
Phenotypes for gene: H19 were set to Russell-Silver syndrome
Growth failure v0.0 GPR161 Zornitza Stark gene: GPR161 was added
gene: GPR161 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
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 Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk
Growth failure v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLI3 were set to 9054938
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome
Growth failure v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI2 were set to Holoprosencephaly, hypopituitarism
Growth failure v0.0 GHSR Zornitza Stark gene: GHSR was added
gene: GHSR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GHSR were set to 16511605
Phenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency
Growth failure v0.0 GHRHR Zornitza Stark gene: GHRHR was added
gene: GHRHR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHRHR were set to Growth hormone deficiency
Growth failure v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron syndrome
Growth failure v0.0 GH1 Zornitza Stark gene: GH1 was added
gene: GH1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency
Growth failure v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR1 were set to 22319038
Growth failure v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF8 were set to 22319038
Phenotypes for gene: FGF8 were set to hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia
Growth failure v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog
Growth failure v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCM were set to 16116422; 25078778; 19423727
Phenotypes for gene: FANCM were set to Fanconi anemia, complementation group M, 614087; Fanconi anemia; Fanconi Anemia
Growth failure v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to cockayne
Growth failure v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540
Growth failure v0.0 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: EPHX1 was set to Unknown
Phenotypes for gene: EPHX1 were set to ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
Growth failure v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EP300 were set to Rubenstein Taybi
Growth failure v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: DOK7 was set to Unknown
Phenotypes for gene: DOK7 were set to Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
Growth failure v0.0 DNA2 Zornitza Stark gene: DNA2 was added
gene: DNA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050; 31045292
Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807
Growth failure v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith Lemli Opitz
Growth failure v0.0 CRIPT Zornitza Stark gene: CRIPT was added
gene: CRIPT was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to PMC3912419
Phenotypes for gene: CRIPT were set to frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly
Growth failure v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubenstein Taybi
Growth failure v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type III, 259420; OI; Osteogenesis imperfecta, type IV, 166220
Growth failure v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800; CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation
Growth failure v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPJ were set to 20522431
Phenotypes for gene: CENPJ were set to seckel syndrome
Growth failure v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDT1 were set to 21358632
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin
Growth failure v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC6 were set to 21358632
Phenotypes for gene: CDC6 were set to patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia; ?Meier-Gorlin syndrome 5, 613805
Growth failure v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: BTK was set to Unknown
Growth failure v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ATRX was set to Unknown
Phenotypes for gene: ATRX were set to SGA, which is sometimes called intrauterine growth restriction (IUGR),
Growth failure v0.0 ATRIP Zornitza Stark gene: ATRIP was added
gene: ATRIP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATRIP were set to 23144622
Phenotypes for gene: ATRIP were set to microcephaly, micrognathia, small ear lobes, dental crowding
Growth failure v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFP57 were set to 18622393
Phenotypes for gene: ZFP57 were set to diabetes mellitus, transient neonatal, 1MONDO:0011073; Diabetes mellitus, transient neonatal 1 OMIM:601410; IUGR; Multi Locus Imprinting Disturbance
Growth failure v0.0 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542
Phenotypes for gene: RNPC3 were set to ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency
Growth failure v0.0 RAP1B Zornitza Stark gene: RAP1B was added
gene: RAP1B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAP1B were set to 26280580; 32627184
Phenotypes for gene: RAP1B were set to short stature; Syndromic intellectual disability
Growth failure v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK4 were set to 27650967; 25320347; 25344692
Phenotypes for gene: PLK4 were set to microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
Growth failure v0.0 PADI6 Zornitza Stark gene: PADI6 was added
gene: PADI6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PADI6 were set to 33221824; 32928291; 29574422
Phenotypes for gene: PADI6 were set to miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; Short stature; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; IUGR; Beckwith-Wiedemann syndrome
Growth failure v0.0 NLRP7 Zornitza Stark gene: NLRP7 was added
gene: NLRP7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP7 were set to 28561018
Phenotypes for gene: NLRP7 were set to hydatidiform mole, recurrent, 1 MONDO:0009273; Short stature; fetal wastage; Hydatidiform mole, recurrent, 1 OMIM:231090; IUGR; Multi Locus Imprinting Disturbance
Growth failure v0.0 NLRP5 Zornitza Stark gene: NLRP5 was added
gene: NLRP5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP5 were set to 26323243; 29574422
Phenotypes for gene: NLRP5 were set to body asymmetry; Short stature; Failure to thrive; multilocus imprinting disturbances; IUGR
Growth failure v0.0 NLRP2 Zornitza Stark gene: NLRP2 was added
gene: NLRP2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP2 were set to 30877238; 33090377; 29574422; 26323243; 19300480
Phenotypes for gene: NLRP2 were set to Maternal effect gene- causing phenotypes that include IUGR
Growth failure v0.0 NHLRC2 Zornitza Stark gene: NHLRC2 was added
gene: NHLRC2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to FINCA syndrome OMIM:618278
Growth failure v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 31761904
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Growth failure v0.0 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; growth retardation; arterial calcification; lipodystrophy
Growth failure v0.0 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 29339779; 28554942; 31604776; 28544275; 31130378
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675
Growth failure v0.0 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Behavioral abnormality; Seizures; Global developmental delay; Short stature; Intellectual disability
Growth failure v0.0 INTS1 Zornitza Stark gene: INTS1 was added
gene: INTS1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 31428919; 30622326
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817
Growth failure v0.0 FOXP4 Zornitza Stark gene: FOXP4 was added
gene: FOXP4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Growth failure v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COG4 were set to 30290151; 31949312
Phenotypes for gene: COG4 were set to microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407; Saul-Wilson syndrome, OMIM:618150
Mode of pathogenicity for gene: COG4 was set to Other
Growth failure v0.0 CEP57 Zornitza Stark gene: CEP57 was added
gene: CEP57 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP57 were set to 24259107; 21552266
Phenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2, 614114
Growth failure v0.0 CCDC186 Zornitza Stark gene: CCDC186 was added
gene: CCDC186 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146; 28600779
Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay
Growth failure v0.0 ANAPC1 Zornitza Stark gene: ANAPC1 was added
gene: ANAPC1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Growth failure v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435
Growth failure v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism; Mulibery Nanism, 253250
Growth failure v0.0 TOP3A Zornitza Stark gene: TOP3A was added
gene: TOP3A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOP3A were set to Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; 618097 MGRISCE2 (Bloom-like syndrome)
Growth failure v0.0 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome, 136140; Floating Harbor
Growth failure v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9
Mode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments
Growth failure v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 17143285; 17586837; 17143282; 19438935
Phenotypes for gene: SOS1 were set to Noonan syndrome; Rasopathy; Noonan syndrome 4
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLX4 were set to 21240275; 21240277
Phenotypes for gene: SLX4 were set to 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia
Growth failure v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair
Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIT1 were set to 24939608; 25124994; 23791108
Phenotypes for gene: RIT1 were set to Rasopathy; Noonan syndrome type 8; Noonan syndrome 8
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to 17603483; 17603482
Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 16263833; 17603483; 17497712; 12634870; 11704759; 18678287; 15384080; 15240615; 12529711
Phenotypes for gene: PTPN11 were set to Noonan syndrome; LEOPARD syndrome 1; Noonan syndrome 1; LEOPARD syndrome
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
Growth failure v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair
Growth failure v0.0 PLAG1 Zornitza Stark gene: PLAG1 was added
gene: PLAG1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAG1 were set to 28796236
Phenotypes for gene: PLAG1 were set to SRS; Silver-Russell syndrome
Growth failure v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome, 269880; SHORT
Growth failure v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PALB2 were set to 17200672; 17200671
Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, 610832; 610832 Fanconi anemia, complementation group N
Growth failure v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OBSL1 were set to 21737058
Phenotypes for gene: OBSL1 were set to 3M; 3-M syndrome 2, 612921
Growth failure v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 19966803; 19775298
Phenotypes for gene: NRAS were set to Cardio-Facio-cutanenous syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome; CFC Syndrome; Noonan syndrome 6
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen; Nijmegen breakage syndrome, 251260
Growth failure v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K2 were set to 16439621; 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to CFC syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 23321623; 16439621; 21396583; 16825433
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3; CFC syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 29469822; 25795793
Phenotypes for gene: LZTR1 were set to increased nuchal translucency; Prenatal hydrops; cardiac findings; Noonan syndrome 10
Growth failure v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 21396583
Phenotypes for gene: KRAS were set to Noonan syndrome 3; CFC syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan syndrome; Rasopathy; Cardio-Facio-Cutaneous syndrome
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 IGF2 Zornitza Stark gene: IGF2 was added
gene: IGF2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to 26154720
Phenotypes for gene: IGF2 were set to Pre- and post-natal growth failure; SRS; ?Growth restriction, severe, with distinctive facies, 616489; Silver-Russell phenptype; IUGR
Growth failure v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to 15q-Del; Insulin likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance
Growth failure v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; IGF1
Growth failure v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 16969868; 16443854; 21396583; 16170316
Phenotypes for gene: HRAS were set to Costello syndrome, 218040; Costello; Costello syndrome
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 HMGA2 Zornitza Stark gene: HMGA2 was added
gene: HMGA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGA2 were set to 29655892
Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, MONDO:0020795; Silver-Russell syndrome 5, OMIM:618908
Growth failure v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to Hypochondroplasia, 146000
Growth failure v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160
Phenotypes for gene: FANCL were set to Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia
Growth failure v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 17452773; 11239453
Phenotypes for gene: FANCI were set to 609053 Fanconi anemia, complementation group I; Fanconi anemia; Fanconi anemia, complementation group I, 609053; Fanconi Anemia
Growth failure v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCG were set to 16493006; 9806548
Phenotypes for gene: FANCG were set to 614082 Fanconi anemia, complementation group G; hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation
Growth failure v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 10615118
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467; Fanconi anemia; 603467 Fanconi anemia, complementation group F; Fanconi Anemia
Growth failure v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCE were set to 7662964; 10205272; 9147877; 9382107
Phenotypes for gene: FANCE were set to Fanconi anemia; Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia
Growth failure v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCD2 were set to 11239454
Phenotypes for gene: FANCD2 were set to Fanconi anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646; Fanconi Anemia
Growth failure v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 16493006; 1574115
Phenotypes for gene: FANCC were set to hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; Fanconi anemia, complementation group C, 227645; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; 227645 Fanconi anemia, complementation group C; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation
Growth failure v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514; Falcon anemia; VACTERL Association with Hydrocephalus; Fanconi Anaemia; Fanconi Anemia Type B; 300514 Fanconi anemia, complementation group B; Fanconi anemia; Fanconi Anemia, X-Linked
Growth failure v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to 16493006; 8896563
Phenotypes for gene: FANCA were set to hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; 227650 Fanconi anemia complementation group A; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group A, 227650; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation
Growth failure v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 23623386; 23623389; 24027083
Phenotypes for gene: ERCC4 were set to 615272 Fanconi anemia, complementation group Q; Fanconi anemia, complementation group Q, 615272
Growth failure v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3M; 3-M syndrome 1, 273750
Growth failure v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; SRS/BWS
Growth failure v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3M; 3-M syndrome 3, 614205
Growth failure v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBL were set to 20619386; 20543203; 19571318
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 14630800; 16153896; 16116424; 16116423
Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J
Growth failure v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 24395671; 11239453; 14670928; 12065746; 28185119
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; 605724 Fanconi anemia, complementation group D1
Growth failure v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 16474404; 21396583; 16825433; 19206169
Phenotypes for gene: BRAF were set to Noonan Syndrome; LEOPARD Syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900; 210900 Bloom syndrome; Bloom
Growth failure v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 21782149
Phenotypes for gene: ANKRD11 were set to KBG syndrome, 148050; KBG
Growth failure v0.0 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113; 27870580
Phenotypes for gene: ACAN were set to Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800
Growth failure v0.0 Zornitza Stark Added panel Growth failure in early childhood
Mendeliome v0.8445 SYP Elena Savva reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23966691, 19377476; Phenotypes: Mental retardation, X-linked 96 MIM#300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8445 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Mendeliome v0.8445 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Mendeliome v0.8445 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from to Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955); Heterotaxy, visceral, 1, X-linked (MIM#306955); VACTERL association, X-linked, MIM# 314390
Mendeliome v0.8444 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Mendeliome v0.8443 ZIC3 Zornitza Stark Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8442 ZIC3 Zornitza Stark edited their review of gene: ZIC3: Changed phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955), VACTERL association, X-linked, MIM# 314390
Mendeliome v0.8442 ZIC3 Zornitza Stark changed review comment from: This gene belongs on the Heterotaxy panel.; to: Well established gene-disease associations.
Mendeliome v0.8442 ZIC3 Zornitza Stark edited their review of gene: ZIC3: Changed rating: GREEN
Mendeliome v0.8442 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Mendeliome v0.8442 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Mendeliome v0.8442 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from to Cohen syndrome, MIM# 216550
Mendeliome v0.8441 VPS13B Zornitza Stark Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8440 VPS13B Zornitza Stark reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8440 VPS13B Zornitza Stark Deleted their review
Mendeliome v0.8440 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Mendeliome v0.8440 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Mendeliome v0.8440 TULP1 Zornitza Stark Phenotypes for gene: TULP1 were changed from to Retinitis pigmentosa 14 M(MIM#600132); Leber congenital amaurosis 15, MIM# 613843
Mendeliome v0.8439 TULP1 Zornitza Stark Publications for gene: TULP1 were set to
Mendeliome v0.8438 TULP1 Zornitza Stark Mode of inheritance for gene: TULP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8437 TULP1 Zornitza Stark commented on gene: TULP1: Several families also reported with LCA.
Mendeliome v0.8437 TULP1 Zornitza Stark edited their review of gene: TULP1: Changed publications: 15024725
Mendeliome v0.8437 TULP1 Zornitza Stark reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 15, MIM# 613843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8437 TOPORS Zornitza Stark Marked gene: TOPORS as ready
Mendeliome v0.8437 TOPORS Zornitza Stark Gene: topors has been classified as Green List (High Evidence).
Mendeliome v0.8437 TOPORS Zornitza Stark Phenotypes for gene: TOPORS were changed from to Retinitis pigmentosa 31 (MIM#609923)
Mendeliome v0.8436 TOPORS Zornitza Stark Publications for gene: TOPORS were set to
Mendeliome v0.8435 TOPORS Zornitza Stark Mode of inheritance for gene: TOPORS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3989 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome
Intellectual disability syndromic and non-syndromic v0.3988 SUFU Zornitza Stark Publications for gene: SUFU were set to 28965847
Intellectual disability syndromic and non-syndromic v0.3987 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3986 SUFU Zornitza Stark Classified gene: SUFU as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3986 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3985 SUFU Zornitza Stark edited their review of gene: SUFU: Added comment: Heterozygous truncating variants in SUFU in 15 subjects from 6 unrelated families of various ethnic backgrounds (familial and de novo cases). Clinical features of early-onset (congenital) ocular ataxia and developmental delay, with some phenotypic variability. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign of Joubert syndrome. Paper reports that condition reported here and SUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap.

Functional studies showed no differences in cilia occurrence, morphology, or localization of ciliary proteins, such as smoothened. However, analysis of expression of HH signaling target genes detected a significant increase in the general signaling activity in COMA patient–derived fibroblasts compared with control cells. We observed higher basal HH signaling activity resulting in increased basal expression levels of GLI1, GLI2, GLI3, and Patched1. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign. Knockout mice with SuFu deficiency demonstrated that SuFu is required for proper midhindbrain patterning and controls cerebellar patterning.; Changed rating: GREEN; Changed publications: 28965847, 33024317; Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8434 SUFU Zornitza Stark Marked gene: SUFU as ready
Mendeliome v0.8434 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Mendeliome v0.8434 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome; Basal cell nevus syndrome, MIM# 109400
Mendeliome v0.8433 SUFU Zornitza Stark Publications for gene: SUFU were set to
Mendeliome v0.8432 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8431 SUFU Zornitza Stark edited their review of gene: SUFU: Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental syndrome, Basal cell nevus syndrome, MIM# 109400
Mendeliome v0.8431 SUFU Zornitza Stark changed review comment from: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome. Note gene also causes dominant Basal Cell Nevus Syndrome.; to: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome.
Mendeliome v0.8431 SUFU Zornitza Stark edited their review of gene: SUFU: Added comment: Mono-allelic variants are also associated with Basal cell nevus syndrome/predisposition to medulloblastoma.; Changed rating: GREEN; Changed publications: 28965847, 19533801, 31485359; Changed phenotypes: Joubert syndrome 32, MIM#617757, Basal cell nevus syndrome, MIM# 109400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8431 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Mendeliome v0.8431 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Mendeliome v0.8431 SCNN1G Zornitza Stark Phenotypes for gene: SCNN1G were changed from to Liddle syndrome 2, MIM# 618114; Pseudohypoaldosteronism, type I, MIM# 264350
Mendeliome v0.8430 SCNN1G Zornitza Stark Publications for gene: SCNN1G were set to
Mendeliome v0.8429 SCNN1G Zornitza Stark Mode of inheritance for gene: SCNN1G was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8428 SCNN1G Zornitza Stark Deleted their comment
Mendeliome v0.8428 SCNN1G Zornitza Stark edited their review of gene: SCNN1G: Added comment: Variants resulting in constitutive activation of epithelial sodium channel activity have been demonstrated in the beta and gamma subunits as the cause of the autosomal dominant form of hypertension, Liddle syndrome, which is characterized by volume expansion, hypokalemia, and alkalosis.

Variants causing loss of epithelial sodium channel activity cause the converse phenotype of volume depletion, hyperkalaemia and acidosis characteristic of patients with pseudohypoaldosteronism type I.

Well established gene-disease associations.; Changed rating: GREEN; Changed phenotypes: Liddle syndrome 2, MIM# 618114, Pseudohypoaldosteronism, type I, MIM# 264350; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8428 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Mendeliome v0.8428 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Mendeliome v0.8428 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from to Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome
Mendeliome v0.8427 SCLT1 Zornitza Stark Publications for gene: SCLT1 were set to
Mendeliome v0.8426 SCLT1 Zornitza Stark Mode of inheritance for gene: SCLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8425 RPGR Zornitza Stark Marked gene: RPGR as ready
Mendeliome v0.8425 RPGR Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence).
Mendeliome v0.8425 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)
Mendeliome v0.8424 RPGR Zornitza Stark Publications for gene: RPGR were set to
Mendeliome v0.8423 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.8422 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Mendeliome v0.8422 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Mendeliome v0.8422 PRKCSH Zornitza Stark Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 (MIM#174050)
Mendeliome v0.8421 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to
Mendeliome v0.8420 PRKCSH Zornitza Stark Mode of pathogenicity for gene: PRKCSH was changed from to None
Mendeliome v0.8419 PRKCSH Zornitza Stark Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8418 PRKCSH Zornitza Stark reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11047756, 29038287, 12529853, 12577059; Phenotypes: Polycystic liver disease 1 (MIM#174050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polycystic liver disease v0.27 PRKCSH Zornitza Stark commented on gene: PRKCSH: Well established gene-disease association.
Mendeliome v0.8418 PRKCSH Zornitza Stark Deleted their review
Mendeliome v0.8418 POC1B Zornitza Stark Marked gene: POC1B as ready
Mendeliome v0.8418 POC1B Zornitza Stark Gene: poc1b has been classified as Green List (High Evidence).
Mendeliome v0.8418 POC1B Zornitza Stark Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20 (MIM#615973)
Mendeliome v0.8417 POC1B Zornitza Stark Publications for gene: POC1B were set to
Mendeliome v0.8416 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8415 POC1B Zornitza Stark Deleted their review
Mendeliome v0.8415 POC1B Zornitza Stark Deleted their comment
Mendeliome v0.8415 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Mendeliome v0.8415 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Mendeliome v0.8415 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia (MIM#212065)
Mendeliome v0.8414 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Mendeliome v0.8413 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8412 PMM2 Zornitza Stark edited their review of gene: PMM2: Added comment: Well established gene-disease association.; Changed rating: GREEN; Changed publications: 28108845
Mendeliome v0.8412 PMM2 Zornitza Stark Deleted their comment
Mendeliome v0.8412 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Mendeliome v0.8412 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Mendeliome v0.8412 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Mendeliome v0.8411 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8410 PKHD1 Zornitza Stark changed review comment from: Included due to phenotypic overlap with nephronophthisis.; to: Well established gene-disease association.
Mendeliome v0.8410 MUC1 Zornitza Stark edited their review of gene: MUC1: Changed publications: 29186029, 29156055, 29520014
Mendeliome v0.8410 MUC1 Zornitza Stark Marked gene: MUC1 as ready
Mendeliome v0.8410 MUC1 Zornitza Stark Gene: muc1 has been classified as Green List (High Evidence).
Mendeliome v0.8410 MUC1 Zornitza Stark Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1 (MIM#174000)
Mendeliome v0.8409 MUC1 Zornitza Stark Publications for gene: MUC1 were set to
Mendeliome v0.8408 MUC1 Zornitza Stark Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8407 MUC1 Zornitza Stark Deleted their comment
Mendeliome v0.8407 MUC1 Zornitza Stark edited their review of gene: MUC1: Added comment: Well established gene-disease association, but note main variant type not readily tractable by NGS.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: Medullary cystic kidney disease 1 (MIM#174000); Changed phenotypes: Medullary cystic kidney disease 1 (MIM#174000); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8407 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Mendeliome v0.8407 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Mendeliome v0.8407 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120
Mendeliome v0.8406 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Mendeliome v0.8405 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8404 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Mendeliome v0.8404 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Mendeliome v0.8404 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from to Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome
Mendeliome v0.8403 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to
Mendeliome v0.8402 KIAA0753 Zornitza Stark Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8401 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed phenotypes: Orofaciodigital syndrome XV 617127, Joubert syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8401 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed rating: GREEN
Mendeliome v0.8401 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Mendeliome v0.8401 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Mendeliome v0.8401 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23, MIM# 616490; Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
Mendeliome v0.8400 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Mendeliome v0.8399 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8398 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546, Joubert syndrome
Mendeliome v0.8398 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Mendeliome v0.8398 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Mendeliome v0.8398 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Mendeliome v0.8397 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Mendeliome v0.8396 IFT52 Zornitza Stark Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8395 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Mendeliome v0.8395 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Mendeliome v0.8395 IFT27 Zornitza Stark Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996
Mendeliome v0.8394 IFT27 Zornitza Stark Publications for gene: IFT27 were set to
Mendeliome v0.8393 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.643 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Mitochondrial disease v0.643 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Mendeliome v0.8392 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Mendeliome v0.8392 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Mendeliome v0.8392 POLG2 Zornitza Stark Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Mendeliome v0.8391 POLG2 Zornitza Stark Publications for gene: POLG2 were set to
Mendeliome v0.8390 POLG2 Zornitza Stark Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.643 POLG2 Zornitza Stark Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Mendeliome v0.8389 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.642 POLG2 Zornitza Stark Publications for gene: POLG2 were set to
Mitochondrial disease v0.641 POLG2 Zornitza Stark Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.640 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8389 PCDHGC4 Zornitza Stark Marked gene: PCDHGC4 as ready
Mendeliome v0.8389 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Mendeliome v0.8389 PCDHGC4 Zornitza Stark Classified gene: PCDHGC4 as Green List (high evidence)
Mendeliome v0.8389 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Mendeliome v0.8388 PCDHGC4 Zornitza Stark gene: PCDHGC4 was added
gene: PCDHGC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures
Review for gene: PCDHGC4 was set to GREEN
Added comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.
Sources: Literature
Genetic Epilepsy v0.1144 PCDHGC4 Zornitza Stark Classified gene: PCDHGC4 as Green List (high evidence)
Genetic Epilepsy v0.1144 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1143 PCDHGC4 Zornitza Stark Classified gene: PCDHGC4 as Green List (high evidence)
Genetic Epilepsy v0.1143 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1142 PCDHGC4 Zornitza Stark Marked gene: PCDHGC4 as ready
Genetic Epilepsy v0.1142 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1142 PCDHGC4 Zornitza Stark gene: PCDHGC4 was added
gene: PCDHGC4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures
Review for gene: PCDHGC4 was set to GREEN
Added comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3985 PCDHGC4 Zornitza Stark Marked gene: PCDHGC4 as ready
Intellectual disability syndromic and non-syndromic v0.3985 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3985 PCDHGC4 Zornitza Stark Classified gene: PCDHGC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3985 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3984 PCDHGC4 Zornitza Stark gene: PCDHGC4 was added
gene: PCDHGC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures
Review for gene: PCDHGC4 was set to GREEN
Added comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.
Sources: Literature
Mendeliome v0.8387 ATP6V0A4 Zornitza Stark Marked gene: ATP6V0A4 as ready
Mendeliome v0.8387 ATP6V0A4 Zornitza Stark Gene: atp6v0a4 has been classified as Green List (High Evidence).
Mendeliome v0.8387 ATP6V0A4 Zornitza Stark Phenotypes for gene: ATP6V0A4 were changed from to Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Mendeliome v0.8386 ATP6V0A4 Zornitza Stark Publications for gene: ATP6V0A4 were set to
Mendeliome v0.8385 ATP6V0A4 Zornitza Stark Mode of inheritance for gene: ATP6V0A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8384 ATP6V0A4 Zornitza Stark reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414817, 10973252; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3983 CEP85L Zornitza Stark Marked gene: CEP85L as ready
Intellectual disability syndromic and non-syndromic v0.3983 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3983 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3983 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3982 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: Expert Review
Mendeliome v0.8384 ICK Zornitza Stark Marked gene: ICK as ready
Mendeliome v0.8384 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Mendeliome v0.8384 ICK Zornitza Stark Phenotypes for gene: ICK were changed from to Endocrine-cerebroosteodysplasia (MIM#612651)
Mendeliome v0.8383 ICK Zornitza Stark Publications for gene: ICK were set to
Mendeliome v0.8382 ICK Zornitza Stark Mode of inheritance for gene: ICK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8381 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Mendeliome v0.8381 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Mendeliome v0.8381 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Mendeliome v0.8381 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Mendeliome v0.8380 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8379 HNF1B Zornitza Stark changed review comment from: Included due to phenotypic overlap with nephronophthisis.; to: Well established gene-disease association, CNVs common.
Mendeliome v0.8379 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Mendeliome v0.8379 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Mendeliome v0.8379 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530
Mendeliome v0.8378 GDF1 Zornitza Stark Publications for gene: GDF1 were set to
Mendeliome v0.8377 GDF1 Zornitza Stark Mode of inheritance for gene: GDF1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.8376 GDF1 Zornitza Stark edited their review of gene: GDF1: Added comment: PMID: 32144877 - founder PTC in Arab population causing congenital heart detects AND right isomerism in 3 (unrelated?) families. Reviews other publications and reports additional chet (two PTC) or homozygous (missense) families with situs inversus and/or heart defects. No apparent genotype-phenotype correlation btw dominant and recessive disease.; Changed rating: GREEN; Changed publications: 32144877; Changed phenotypes: Congenital heart defects, multiple types, 6 613854, Right atrial isomerism (Ivemark) 208530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8376 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Mendeliome v0.8376 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Mendeliome v0.8376 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome (MIM#225500)
Mendeliome v0.8375 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Mendeliome v0.8374 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8373 EVC Zornitza Stark Marked gene: EVC as ready
Mendeliome v0.8373 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Mendeliome v0.8373 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500
Mendeliome v0.8372 EVC Zornitza Stark Publications for gene: EVC were set to
Mendeliome v0.8371 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8370 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Mendeliome v0.8370 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Green List (High Evidence).
Mendeliome v0.8370 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394
Mendeliome v0.8369 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Mendeliome v0.8368 DCDC2 Zornitza Stark Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8367 DCDC2 Zornitza Stark changed review comment from: Only a single case with nephronophthisis, most reports are for cholangitis, though zebrafish model has renal cysts.; to: At least 5 families reported with cholangitis, and two with nephronophthisis, though zebrafish model has renal cysts.
Mendeliome v0.8367 DCDC2 Zornitza Stark edited their review of gene: DCDC2: Changed rating: GREEN; Changed publications: 25557784, 27319779, 27469900; Changed phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8367 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Mendeliome v0.8367 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Mendeliome v0.8367 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217
Mendeliome v0.8366 CRELD1 Zornitza Stark Publications for gene: CRELD1 were set to
Mendeliome v0.8365 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8364 CRELD1 Zornitza Stark reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740159; Phenotypes: Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8364 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Mendeliome v0.8364 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Mendeliome v0.8364 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730; Focal segmental glomerulosclerosis 9, MIM# 616220
Mendeliome v0.8363 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Mendeliome v0.8362 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8361 CRB2 Zornitza Stark changed review comment from: More than 7 unrelated families reported, mouse model. Some have presented predominantly with proteinuria, and some more with a multi-system ciliopathy phenotype, and yet others with RP.; to: VM with renal disease: More than 7 unrelated families reported, mouse model. Some have presented predominantly with proteinuria, and some more with a multi-system ciliopathy phenotype, and yet others with RP.

FSGS: at least 4 families and animal model.
Mendeliome v0.8361 CRB2 Zornitza Stark edited their review of gene: CRB2: Changed publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 25557779; Changed phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730, Focal segmental glomerulosclerosis 9, MIM# 616220
Mendeliome v0.8361 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Mendeliome v0.8361 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Mendeliome v0.8361 CEP55 Zornitza Stark Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500
Mendeliome v0.8360 CEP55 Zornitza Stark Publications for gene: CEP55 were set to
Mendeliome v0.8359 CEP55 Zornitza Stark Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8358 CEP55 Zornitza Stark reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8358 CENPF Zornitza Stark Marked gene: CENPF as ready
Mendeliome v0.8358 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Mendeliome v0.8358 CENPF Zornitza Stark Phenotypes for gene: CENPF were changed from to Stromme syndrome (MIM#243605)
Mendeliome v0.8357 CENPF Zornitza Stark Publications for gene: CENPF were set to
Mendeliome v0.8356 CENPF Zornitza Stark Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8355 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Mendeliome v0.8355 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Green List (High Evidence).
Mendeliome v0.8355 C8orf37 Zornitza Stark Phenotypes for gene: C8orf37 were changed from to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500
Mendeliome v0.8354 C8orf37 Zornitza Stark Publications for gene: C8orf37 were set to
Mendeliome v0.8353 C8orf37 Zornitza Stark Mode of inheritance for gene: C8orf37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8352 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Mendeliome v0.8352 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Mendeliome v0.8352 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Mendeliome v0.8351 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Mendeliome v0.8350 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8348 CHRM3 Zornitza Stark Marked gene: CHRM3 as ready
Mendeliome v0.8348 CHRM3 Zornitza Stark Gene: chrm3 has been classified as Green List (High Evidence).
Mendeliome v0.8348 CHRM3 Zornitza Stark Phenotypes for gene: CHRM3 were changed from to Prune belly syndrome, MIM# 100100
Mendeliome v0.8347 CHRM3 Zornitza Stark Publications for gene: CHRM3 were set to
Mendeliome v0.8346 CHRM3 Zornitza Stark Mode of inheritance for gene: CHRM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8345 CHRM3 Zornitza Stark reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22077972, 31441039; Phenotypes: Prune belly syndrome, MIM# 100100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.46 CHRM3 Zornitza Stark Marked gene: CHRM3 as ready
Gastrointestinal neuromuscular disease v0.46 CHRM3 Zornitza Stark Gene: chrm3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.46 CHRM3 Zornitza Stark Phenotypes for gene: CHRM3 were changed from Posterior urethral valves & prune belly syndrome to Prune belly syndrome, MIM# 100100; Posterior urethral valves & prune belly syndrome
Gastrointestinal neuromuscular disease v0.45 CHRM3 Zornitza Stark Publications for gene: CHRM3 were set to
Gastrointestinal neuromuscular disease v0.44 CHRM3 Zornitza Stark edited their review of gene: CHRM3: Changed rating: GREEN
Gastrointestinal neuromuscular disease v0.44 CHRM3 Zornitza Stark reviewed gene: CHRM3: Rating: ; Mode of pathogenicity: None; Publications: 22077972, 31441039; Phenotypes: Prune belly syndrome, MIM# 100100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.44 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Gastrointestinal neuromuscular disease v0.44 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.44 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Gastrointestinal neuromuscular disease v0.43 ACTA2 Zornitza Stark Publications for gene: ACTA2 were set to
Gastrointestinal neuromuscular disease v0.42 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.41 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20734336, 29300374; Phenotypes: Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Ciliopathies and Nephronophthisis v1.0 Zornitza Stark promoted panel to version 1.0
Renal Ciliopathies and Nephronophthisis v0.322 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Renal Ciliopathies and Nephronophthisis v0.322 IFT74 Zornitza Stark Added comment: Comment when marking as ready: No renal involvement in the individuals reported with the Joubert phenotype.
Renal Ciliopathies and Nephronophthisis v0.322 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.322 C2CD3 Zornitza Stark edited their review of gene: C2CD3: Changed rating: AMBER
Renal Ciliopathies and Nephronophthisis v0.322 EVC Zornitza Stark changed review comment from: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature.; to: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature. Renal abnormalities not prominent.
Renal Ciliopathies and Nephronophthisis v0.322 EVC Zornitza Stark edited their review of gene: EVC: Changed rating: RED
Mendeliome v0.8345 ARHGAP42 Zornitza Stark Marked gene: ARHGAP42 as ready
Mendeliome v0.8345 ARHGAP42 Zornitza Stark Gene: arhgap42 has been classified as Red List (Low Evidence).
Mendeliome v0.8345 ARHGAP42 Zornitza Stark gene: ARHGAP42 was added
gene: ARHGAP42 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP42 were set to 34232960
Phenotypes for gene: ARHGAP42 were set to Interstitial lung disease; systemic hypertension; immunological abnormalities
Review for gene: ARHGAP42 was set to RED
Added comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.29 ARHGAP42 Zornitza Stark Marked gene: ARHGAP42 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.29 ARHGAP42 Zornitza Stark Gene: arhgap42 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.29 ARHGAP42 Zornitza Stark Phenotypes for gene: ARHGAP42 were changed from to Interstitial lung disease; systemic hypertension; immunological abnormalities
Pulmonary Fibrosis_Interstitial Lung Disease v0.28 ARHGAP42 Zornitza Stark gene: ARHGAP42 was added
gene: ARHGAP42 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP42 were set to 34232960
Review for gene: ARHGAP42 was set to RED
Added comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.322 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from Orofaciodigital syndrome type IX; Senior-Loken syndrome to Senior-Loken syndrome; Bardet-Biedl syndrome
Renal Ciliopathies and Nephronophthisis v0.321 SCLT1 Zornitza Stark Classified gene: SCLT1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.321 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.320 SCLT1 Zornitza Stark changed review comment from: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype.
Sources: Expert list; to: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype. Two individuals with BBS and one with Senior-Loken, with renal involvement.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.320 SCLT1 Zornitza Stark edited their review of gene: SCLT1: Changed phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome, Bardet-Biedl syndrome
Renal Ciliopathies and Nephronophthisis v0.320 WDR34 Zornitza Stark changed review comment from: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data.; to: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data; however, no renal involvement.
Renal Ciliopathies and Nephronophthisis v0.320 WDR34 Zornitza Stark edited their review of gene: WDR34: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.320 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Renal Ciliopathies and Nephronophthisis v0.320 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.320 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Renal Ciliopathies and Nephronophthisis v0.319 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Renal Ciliopathies and Nephronophthisis v0.318 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.317 WDR60 Zornitza Stark changed review comment from: Four unrelated families reported, three with skeletal ciliopathy and one with RP and polydactyly only.; to: Four unrelated families reported, including renal involvement, although features are predominantly skeletal.
Renal Ciliopathies and Nephronophthisis v0.317 WDR60 Zornitza Stark edited their review of gene: WDR60: Changed phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Renal Ciliopathies and Nephronophthisis v0.317 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Renal Ciliopathies and Nephronophthisis v0.317 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.317 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569; Cranioectodermal dysplasia 2, MIM# 613610
Renal Ciliopathies and Nephronophthisis v0.316 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Renal Ciliopathies and Nephronophthisis v0.315 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.314 WDR35 Zornitza Stark changed review comment from: Well established gene-disease association. Bi-allelic variants in this gene also cause cranioectodermal dysplasia.; to: Well established gene-disease associations, renal involvement reported in both.
Renal Ciliopathies and Nephronophthisis v0.314 WDR35 Zornitza Stark edited their review of gene: WDR35: Changed phenotypes: Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569, Cranioectodermal dysplasia 2, MIM# 613610
Renal Ciliopathies and Nephronophthisis v0.314 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378 to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307
Renal Ciliopathies and Nephronophthisis v0.313 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Renal Ciliopathies and Nephronophthisis v0.313 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.313 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Renal Ciliopathies and Nephronophthisis v0.312 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Renal Ciliopathies and Nephronophthisis v0.311 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.310 WDR19 Zornitza Stark changed review comment from: Variants in this gene are associated with a range of ciliopathies. Two families reported with a predominantly skeletal phenotype.; to: Variants in this gene are associated with a range of ciliopathies, including nephronophthisis and Senior-Loken syndrome.
Renal Ciliopathies and Nephronophthisis v0.310 WDR19 Zornitza Stark edited their review of gene: WDR19: Changed rating: GREEN
Renal Ciliopathies and Nephronophthisis v0.310 WDR19 Zornitza Stark edited their review of gene: WDR19: Changed publications: 22019273, 23559409, 23683095; Changed phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307
Renal Ciliopathies and Nephronophthisis v0.310 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Renal Ciliopathies and Nephronophthisis v0.310 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.310 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Renal Ciliopathies and Nephronophthisis v0.309 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Renal Ciliopathies and Nephronophthisis v0.308 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.307 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Renal Ciliopathies and Nephronophthisis v0.307 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.307 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Renal Ciliopathies and Nephronophthisis v0.306 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Renal Ciliopathies and Nephronophthisis v0.305 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.304 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.304 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Renal Ciliopathies and Nephronophthisis v0.304 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.304 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Nephronophthisis 11, MIM# 613550; Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361
Renal Ciliopathies and Nephronophthisis v0.303 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Renal Ciliopathies and Nephronophthisis v0.302 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.301 TMEM67 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including Nerphronophtisis, JBTS and Meckel syndrome. Multiple families with each.
Renal Ciliopathies and Nephronophthisis v0.301 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Changed phenotypes: Nephronophthisis 11, MIM# 613550, Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361
Renal Ciliopathies and Nephronophthisis v0.301 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Renal Ciliopathies and Nephronophthisis v0.301 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.301 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Renal Ciliopathies and Nephronophthisis v0.300 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Renal Ciliopathies and Nephronophthisis v0.299 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.298 TMEM231 Zornitza Stark changed review comment from: More than 3 unrelated families reported with each phenotype, functional data.; to: More than 3 unrelated families reported with each phenotype, functional data. Renal involvement common in Meckel.
Renal Ciliopathies and Nephronophthisis v0.298 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Renal Ciliopathies and Nephronophthisis v0.298 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.298 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194
Renal Ciliopathies and Nephronophthisis v0.297 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Renal Ciliopathies and Nephronophthisis v0.296 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.295 TMEM216 Zornitza Stark changed review comment from: p.Arg73Leu is a founder Jewish variant.

Multiple families reported with JBTS and with Meckel syndrome.; to: p.Arg73Leu is a founder Jewish variant.

Multiple families reported with JBTS and with Meckel syndrome. Renal involvement common in Meckel.
Renal Ciliopathies and Nephronophthisis v0.295 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Renal Ciliopathies and Nephronophthisis v0.295 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.295 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Renal Ciliopathies and Nephronophthisis v0.294 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Renal Ciliopathies and Nephronophthisis v0.293 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.292 TMEM138 Zornitza Stark changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported. Renal cysts/nephrnophthisis reported.
Renal Ciliopathies and Nephronophthisis v0.292 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Renal Ciliopathies and Nephronophthisis v0.292 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.292 TMEM107 Zornitza Stark Phenotypes for gene: TMEM107 were changed from to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563)
Renal Ciliopathies and Nephronophthisis v0.291 TMEM107 Zornitza Stark Publications for gene: TMEM107 were set to
Renal Ciliopathies and Nephronophthisis v0.290 TMEM107 Zornitza Stark Mode of inheritance for gene: TMEM107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.289 TMEM107 Zornitza Stark Classified gene: TMEM107 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.289 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.288 TMEM107 Zornitza Stark commented on gene: TMEM107: Renal phenotype observed in MKS.
Renal Ciliopathies and Nephronophthisis v0.288 TMEM107 Zornitza Stark reviewed gene: TMEM107: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.288 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Renal Ciliopathies and Nephronophthisis v0.288 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.288 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Mohr-Majewski syndrome; Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.287 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Renal Ciliopathies and Nephronophthisis v0.286 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.285 TCTN3 Zornitza Stark changed review comment from: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).; to: Variants in this gene are associated with a range of ciliopathies, but renal involvement reported in Mohr-Majewski and Meckel-Gruber presentations.
Renal Ciliopathies and Nephronophthisis v0.285 TCTN3 Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 22883145, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Mohr-Majewski syndrome, Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.285 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Renal Ciliopathies and Nephronophthisis v0.285 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.285 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Renal Ciliopathies and Nephronophthisis v0.284 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Renal Ciliopathies and Nephronophthisis v0.283 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.282 TCTN2 Zornitza Stark changed review comment from: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model.; to: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model. Renal abnormalities are part of the Meckel phenotype.
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173
Renal Ciliopathies and Nephronophthisis v0.281 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Renal Ciliopathies and Nephronophthisis v0.280 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.279 TCTN1 Zornitza Stark Classified gene: TCTN1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.279 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.278 TCTN1 Zornitza Stark changed review comment from: At least 4 unrelated families reported, mouse model.; to: At least 4 unrelated families reported with JBTS, mouse model. Renal involvement not reported.
Renal Ciliopathies and Nephronophthisis v0.278 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.277 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Renal Ciliopathies and Nephronophthisis v0.276 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.276 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Orofaciodigital syndrome I, MIM# 311200; Joubert syndrome 10, MIM# 300804
Renal Ciliopathies and Nephronophthisis v0.273 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Renal Ciliopathies and Nephronophthisis v0.272 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark changed review comment from: XLD. Polydactyly is a rare feature. Primarily facial/neurological features.; to: Gene is associated with multiple ciliopathy phenotypes but renal involvement reported with JBTS/OFD.
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed publications: 19800048, 22353940
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: GREEN; Changed phenotypes: Orofaciodigital syndrome I, MIM# 311200, Joubert syndrome 10, MIM# 300804; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Renal Ciliopathies and Nephronophthisis v0.270 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Renal Ciliopathies and Nephronophthisis v0.269 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.268 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441; Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.267 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Renal Ciliopathies and Nephronophthisis v0.266 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark changed review comment from: Well established ciliopathy gene, two families reported with BBS phenotype.; to: Well established ciliopathy gene, two families reported with BBS phenotype and renal cysts are a prominent feature of Meckel syndrome.
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark edited their review of gene: MKS1: Changed publications: 18327255, 24608809, 17377820; Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441, Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Marked gene: MKKS as ready
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700
Renal Ciliopathies and Nephronophthisis v0.264 MKKS Zornitza Stark Publications for gene: MKKS were set to
Renal Ciliopathies and Nephronophthisis v0.263 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.262 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Gene: kif7 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Acrocallosal syndrome, MIM# 200990; Joubert syndrome 12, MIM# 200990
Renal Ciliopathies and Nephronophthisis v0.261 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.260 KIF7 Zornitza Stark Classified gene: KIF7 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.260 KIF7 Zornitza Stark Gene: kif7 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.259 KIF7 Zornitza Stark changed review comment from: Polydactyly is a feature of acrocallosal syndrome, but overall predominantly neurological presentation.; to: Overall predominantly neurological presentation.
Renal Ciliopathies and Nephronophthisis v0.259 KIF7 Zornitza Stark edited their review of gene: KIF7: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from to Short-rib skeletal dysplasia; Orofaciodigital syndrome XV, MIM# 617127; Jeune ATD
Renal Ciliopathies and Nephronophthisis v0.258 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to
Renal Ciliopathies and Nephronophthisis v0.257 KIAA0753 Zornitza Stark Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.256 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.256 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark changed review comment from: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype.
Sources: Expert list; to: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype, one with OFD, and one with Jeune. Only the individual with OFD is reported to have had renal involvement (hydronephrosis) which may or may not be considered part of a ciliopathy phenotype.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127, Jeune ATD
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951, 31816441
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951; Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Joubert syndrome 23, MIM# 616490
Renal Ciliopathies and Nephronophthisis v0.254 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Renal Ciliopathies and Nephronophthisis v0.253 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark changed review comment from: Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.; to: Multiple families reported with JBTS/ATD phenotype. Renal involvement not reported.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed publications: 26166481, 26096313, 29146704
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481, 26096313; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546, Joubert syndrome 23, MIM# 616490
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.10 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.9 KIAA0556 Zornitza Stark gene: KIAA0556 was added
gene: KIAA0556 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
new gene name tags were added to gene: KIAA0556.
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 26714646; 27245168
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784
Review for gene: KIAA0556 was set to GREEN
Added comment: 5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Sources: Expert Review
Amelogenesis imperfecta v0.1 KCNJ1 Meaghan Wall changed review comment from: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous mutation of exon 5 of the KCNJ1.; to: Hercílio Martelli-Júnior et al, screened 8 patients with confirmed Bartter syndrome for dental abnormalities. Typical features of AI were found in 2 girls. One affected girl had BS due to a homozygous variant in exon 5 of KCNJ1.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Red List (Low Evidence).
Mendeliome v0.8344 KIAA0556 Zornitza Stark changed review comment from: 5 individuals from two families reported, supportive mouse model.; to: 5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Mendeliome v0.8344 KIAA0556 Zornitza Stark Tag new gene name tag was added to gene: KIAA0556.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784
Amelogenesis imperfecta v0.1 KCNJ1 Meaghan Wall reviewed gene: KCNJ1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23341834; Phenotypes: Amelogenesis imperfecta, Bartter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8344 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Mendeliome v0.8344 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Mendeliome v0.8344 KIAA0556 Zornitza Stark Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784
Mendeliome v0.8343 KIAA0556 Zornitza Stark Publications for gene: KIAA0556 were set to
Mendeliome v0.8342 KIAA0556 Zornitza Stark Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8341 KIAA0556 Zornitza Stark reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: None; Publications: 26714646, 27245168; Phenotypes: Joubert syndrome 26, MIM# 616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.250 KIAA0556 Zornitza Stark Publications for gene: KIAA0556 were set to
Renal Ciliopathies and Nephronophthisis v0.249 KIAA0556 Zornitza Stark Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.248 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.248 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.247 KIAA0556 Zornitza Stark reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: None; Publications: 26714646, 27245168; Phenotypes: Joubert syndrome 26, MIM# 616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099
Renal Ciliopathies and Nephronophthisis v0.246 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Renal Ciliopathies and Nephronophthisis v0.245 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.244 IFT43 Zornitza Stark changed review comment from: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; to: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia. Renal involvement including nephronophthisis/cysts in both.
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996
Renal Ciliopathies and Nephronophthisis v0.243 IFT27 Zornitza Stark Publications for gene: IFT27 were set to
Renal Ciliopathies and Nephronophthisis v0.242 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v1.3 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964
Mendeliome v0.8341 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v1.6 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781
Amelogenesis imperfecta v0.1 AMTN Meaghan Wall changed review comment from: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.

Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- in mice did not recapitulate the human phenotype.; to: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids.

Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- mice did not recapitulate the human phenotype.
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964
Renal Ciliopathies and Nephronophthisis v0.239 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Amelogenesis imperfecta v0.1 AMTN Meaghan Wall reviewed gene: AMTN: Rating: ; Mode of pathogenicity: Other; Publications: PMID: 27412008, 25715379, 26620968; Phenotypes: hypomineralised amelogenesis imperfecta, ?Amelogenesis imperfecta, type IIIB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Ciliopathies and Nephronophthisis v0.238 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.237 IFT140 Zornitza Stark edited their review of gene: IFT140: Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964
Renal Ciliopathies and Nephronophthisis v0.237 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Renal Ciliopathies and Nephronophthisis v0.236 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Renal Ciliopathies and Nephronophthisis v0.235 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.234 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.54 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Skeletal Ciliopathies v1.2 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Mendeliome v0.8340 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# MIM#218330 to Cranioectodermal dysplasia 1, MIM# MIM#218330; MONDO:0021093
Craniosynostosis v1.23 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1 MIM#218330 to Cranioectodermal dysplasia 1 MIM#218330; MONDO:0021093
Ciliopathies v1.5 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Renal Ciliopathies and Nephronophthisis v0.234 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330 to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Gene: ift122 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330
Renal Ciliopathies and Nephronophthisis v0.232 IFT122 Zornitza Stark Publications for gene: IFT122 were set to
Renal Ciliopathies and Nephronophthisis v0.231 IFT122 Zornitza Stark Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.230 IFT122 Zornitza Stark reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 28370949, 33717254, 26792575; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8339 LINGO4 Zornitza Stark Marked gene: LINGO4 as ready
Mendeliome v0.8339 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Mendeliome v0.8339 LINGO4 Zornitza Stark Classified gene: LINGO4 as Green List (high evidence)
Mendeliome v0.8339 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Marked gene: LINGO4 as ready
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Classified gene: LINGO4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3981 LINGO4 Zornitza Stark Gene: lingo4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3980 LINGO1 Zornitza Stark edited their review of gene: LINGO1: Changed rating: AMBER
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Marked gene: ARFGEF3 as ready
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Green List (High Evidence).
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Classified gene: ARFGEF3 as Green List (high evidence)
Mendeliome v0.8338 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark reviewed gene: IMPDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark Marked gene: IMPDH2 as ready
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3980 IMPDH2 Zornitza Stark Phenotypes for gene: IMPDH2 were changed from to Neurodevelopmental disorder with dystonia
Intellectual disability syndromic and non-syndromic v0.3979 IMPDH2 Zornitza Stark Classified gene: IMPDH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3979 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Mendeliome v0.8337 IMPDH2 Zornitza Stark Marked gene: IMPDH2 as ready
Mendeliome v0.8337 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Mendeliome v0.8337 IMPDH2 Zornitza Stark Phenotypes for gene: IMPDH2 were changed from Dystonia to Neurodevelopmental disorder with dystonia
Mendeliome v0.8336 IMPDH2 Zornitza Stark Classified gene: IMPDH2 as Green List (high evidence)
Mendeliome v0.8336 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.185 IMPDH2 Zornitza Stark Marked gene: IMPDH2 as ready
Dystonia and Chorea v0.185 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.185 IMPDH2 Zornitza Stark Phenotypes for gene: IMPDH2 were changed from Dystonia to Neurodevelopmental disorder with dystonia
Dystonia and Chorea v0.184 IMPDH2 Zornitza Stark Classified gene: IMPDH2 as Green List (high evidence)
Dystonia and Chorea v0.184 IMPDH2 Zornitza Stark Gene: impdh2 has been classified as Green List (High Evidence).
Mendeliome v0.8335 LINGO4 Laura Raiti gene: LINGO4 was added
gene: LINGO4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LINGO4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO4 were set to PMID: 33098801
Phenotypes for gene: LINGO4 were set to Developmental Delay, Intellectual disability, speech disorder
Review for gene: LINGO4 was set to GREEN
Added comment: 3 unrelated individuals
1 x individual compound heterozygous for 2x missense variants:
c.679C>A; c.1262G>A p.Leu227Met; p.Arg421Gln comp het. Phenotype: infancy-onset
generalized dystonia; DD/hypo, ID, speech disorder (isolated plus non-MD symptoms) NDD

1 x individual homozygous for missense variant: c.679C>A p.Leu227Met Phenotype: DD/hypo, ID, speech disorder

1 x individual homozygous for missense variant: c.1673G>A p.Ser558Asn Phenotype: DD/hypo, ID, speech disorder
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 LINGO4 Laura Raiti gene: LINGO4 was added
gene: LINGO4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LINGO4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO4 were set to PMID: 33098801
Phenotypes for gene: LINGO4 were set to Developmental Delay, Intellectual disability, speech disorder
Review for gene: LINGO4 was set to GREEN
Added comment: 3 unrelated individuals
1 x individual compound heterozygous for 2x missense variants:
c.679C>A; c.1262G>A p.Leu227Met; p.Arg421Gln comp het. Phenotype: infancy-onset
generalized dystonia; DD/hypo, ID, speech disorder (isolated plus non-MD symptoms) NDD

1 x individual homozygous for missense variant: c.679C>A p.Leu227Met Phenotype: DD/hypo, ID, speech disorder

1 x individual homozygous for missense variant: c.1673G>A p.Ser558Asn Phenotype: DD/hypo, ID, speech disorder
Sources: Literature
Mendeliome v0.8335 ARFGEF3 Laura Raiti gene: ARFGEF3 was added
gene: ARFGEF3 was added to Mendeliome. Sources: 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
Review for gene: ARFGEF3 was set to GREEN
Added comment: 3 x unrelated individuals
1 x de novo missense variant: c.6212T>C p.Met2071Thr, phenotype: infancy-onset generalized dystonia (isolated)
1x stop-gain variant c.1773T>G p.Tyr591* (inherited from mosaic mother), phenotype: infancy-onset generalized dystonia (isolated)
1 x de novo missense variant (Gene Matcher) c.250A>C p.Met84Leu childhood-onset generalized dystonia (isolated)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 IMPDH2 Laura Raiti gene: IMPDH2 was added
gene: IMPDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH2 were set to PMID: 33098801
Added comment: 6 unrelated individuals
1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.
IMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition.
1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified:
3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)
1 x deletion: c.478_480delTCC (p.Ser160del)
The six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.
The described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.

The variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2.
Sources: Literature
Mendeliome v0.8335 IMPDH2 Laura Raiti gene: IMPDH2 was added
gene: IMPDH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH2 were set to PMID: 33098801
Phenotypes for gene: IMPDH2 were set to Dystonia
Review for gene: IMPDH2 was set to GREEN
Added comment: 6 unrelated individuals
1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.
IMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition.
1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified:
3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)
1 x deletion: c.478_480delTCC (p.Ser160del)
The six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.
The described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.

The variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2.
Sources: Literature
Dystonia and Chorea v0.183 IMPDH2 Laura Raiti gene: IMPDH2 was added
gene: IMPDH2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: IMPDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH2 were set to PMID: 33098801
Phenotypes for gene: IMPDH2 were set to Dystonia
Review for gene: IMPDH2 was set to GREEN
Added comment: 6 unrelated individuals
1x individual in a dystonia cohort index case with infancy-onset dystonia and other neurological manifestations with a de-novo missense variant, c.338G>A (p.Gly113Glu) in IMPDH2, predicted to disrupt an invariant residue within the cystathionine-β-synthase (CBS) domain pair of the encoded protein.
IMPDH2 encodes IMPDH2, a key enzyme in the purine biosynthetic pathway, expressed throughout the brain and not linked previously to any human Mendelian condition.
1x individual with a de-novo substitution, c.337G>A (p.Gly113Arg), was found in in-house whole-exome sequencing data from 500 individuals with neurodevelopmental disorders. Through GeneMatcher, de novo variants identified:
3 x missense: c.729G>C (p.Gln243His), c.619G>C (p.Gly207Arg), and c.619G>A (p.Gly207Arg)
1 x deletion: c.478_480delTCC (p.Ser160del)
The six variants were predicted to be deleterious and none of them seen in control databases. All affected conserved amino acids and resided in and around the cystathionine-β-synthase domain pair.
The described variants are situated in and around the CBS domain pair, a regulatory element in which clustering of pathogenic missense variants has already been shown for the homologue of IMPDH2, IMPDH1.

The variant carriers shared similar neurodevelopmental phenotypes. Apart from the dystonia cohort index case, one participant had evidence of dystonic posturing. Modelling of the variants on 3D protein structures revealed spatial clustering near specific functional sites, predicted to result in deregulation of IMPDH2 activity. Additionally, thermal-shift assays showed that the c.619G>A (p.Gly207Arg) variant, identified as within the CBS domain pair, and c.729G>C (p.Gln243His), which is in close vicinity, affected the stability or folding behaviour of IMPDH2.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v0.229 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Renal Ciliopathies and Nephronophthisis v0.228 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.227 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.
Renal Ciliopathies and Nephronophthisis v0.227 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113; Changed phenotypes: Bardet-Biedl syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v0.227 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127MONDO:0013127
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127
Mendeliome v0.8335 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340; 23456818; 27925158
Mendeliome v0.8334 DYNC2H1 Zornitza Stark changed review comment from: More than 50 unrelated families reported.; to: More than 50 unrelated families reported with predominantly skeletal dysplasia.

Association with RP: - Five affected probands with homozygous and compound heterozygous missense and PTC variants - Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies). PMID 32753734
Mendeliome v0.8334 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed publications: 19442771, 19361615, 22499340, 23456818, 27925158, 32753734; Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127, Non-syndromic retinitis pigmentosa
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Green List (high evidence)
Retinitis pigmentosa v0.97 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Renal Ciliopathies and Nephronophthisis v0.225 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Renal Ciliopathies and Nephronophthisis v0.224 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.223 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730820; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8334 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Mendeliome v0.8333 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Heterotaxy v1.8 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Heterotaxy v1.7 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Ciliary Dyskinesia v1.10 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Ciliary Dyskinesia v1.9 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Mendeliome v0.8333 KIF20A Zornitza Stark Marked gene: KIF20A as ready
Mendeliome v0.8333 KIF20A Zornitza Stark Gene: kif20a has been classified as Red List (Low Evidence).
Mendeliome v0.8333 KIF20A Zornitza Stark edited their review of gene: KIF20A: Changed rating: RED
Mendeliome v0.8333 KIF20A Zornitza Stark gene: KIF20A was added
gene: KIF20A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF20A were set to 29357359
Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433
Review for gene: KIF20A was set to GREEN
Added comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark Marked gene: KIF20A as ready
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark Gene: kif20a has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.97 KIF20A Zornitza Stark gene: KIF20A was added
gene: KIF20A was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF20A were set to 29357359
Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433
Review for gene: KIF20A was set to RED
Added comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Gastrointestinal neuromuscular disease v0.41 ACTG2 Zornitza Stark Publications for gene: ACTG2 were set to
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark edited their review of gene: ACTG2: Added comment: More than 20 unrelated families reported.; Changed publications: 24676022, 26647307
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.40 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Visceral myopathy, 155310 to Visceral myopathy, 155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Gastrointestinal neuromuscular disease v0.39 ACTG2 Zornitza Stark Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal neuromuscular disease v0.38 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8332 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Visceral myopathy, MIM#155310 to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Mendeliome v0.8331 ACTG2 Zornitza Stark edited their review of gene: ACTG2: Changed phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Combined Immunodeficiency v0.208 ADA Zornitza Stark Marked gene: ADA as ready
Combined Immunodeficiency v0.208 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.208 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Combined Immunodeficiency v0.207 ADA Zornitza Stark Publications for gene: ADA were set to
Combined Immunodeficiency v0.206 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.205 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Gene: cep41 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Renal Ciliopathies and Nephronophthisis v0.222 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Renal Ciliopathies and Nephronophthisis v0.221 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.220 CEP41 Zornitza Stark Classified gene: CEP41 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.220 CEP41 Zornitza Stark Gene: cep41 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.219 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.205 B2M Zornitza Stark Phenotypes for gene: B2M were changed from Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434 to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434
Mendeliome v0.8331 B2M Zornitza Stark Marked gene: B2M as ready
Mendeliome v0.8331 B2M Zornitza Stark Gene: b2m has been classified as Green List (High Evidence).
Mendeliome v0.8331 B2M Zornitza Stark Phenotypes for gene: B2M were changed from to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434; Amyloidosis, familial visceral, MIM# 105200
Mendeliome v0.8330 B2M Zornitza Stark Publications for gene: B2M were set to
Mendeliome v0.8329 B2M Zornitza Stark Mode of inheritance for gene: B2M was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8328 B2M Zornitza Stark reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 4186801, 16549777, 25702838, 11118151, 6165007, 22693999; Phenotypes: Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c, MONDO:0009434, Amyloidosis, familial visceral, MIM# 105200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.204 B2M Zornitza Stark Marked gene: B2M as ready
Combined Immunodeficiency v0.204 B2M Zornitza Stark Gene: b2m has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.204 B2M Zornitza Stark Phenotypes for gene: B2M were changed from to Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; MONDO:0009434
Combined Immunodeficiency v0.203 B2M Zornitza Stark Publications for gene: B2M were set to
Combined Immunodeficiency v0.202 B2M Zornitza Stark Mode of inheritance for gene: B2M was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.201 B2M Danielle Ariti reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 4186801, 16549777, 25702838, 11118151, 6165007; Phenotypes: Immunodeficiency 43 MIM# 241600, Sinopulmonary infections, Purple-red skin lesions, - Decreased serum IgG, Decreased B cells, Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Senior-Loken syndrome 6, MIM# 610189
Renal Ciliopathies and Nephronophthisis v0.218 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Renal Ciliopathies and Nephronophthisis v0.217 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies, including Senior-Loken syndrome/nephronophthisis.
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 32208788; Changed phenotypes: Senior-Loken syndrome 6, MIM# 610189
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Marked gene: AK2 as ready
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Classified gene: AK2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.85 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.84 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416
Phenotypes for gene: AK2 were set to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973
Review for gene: AK2 was set to GREEN
Added comment: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Sources: Literature
Mendeliome v0.8328 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Mendeliome v0.8327 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416
Mendeliome v0.8326 AK2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Mendeliome v0.8326 AK2 Zornitza Stark edited their review of gene: AK2: Changed phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973
Mendeliome v0.8326 AK2 Zornitza Stark edited their review of gene: AK2: Changed publications: 19043416, 19043417
Bone Marrow Failure v1.2 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416; 19043417
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416; 19043417
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416
Bone Marrow Failure v1.0 AK2 Zornitza Stark edited their review of gene: AK2: Changed publications: 19043416, 19043417
Bone Marrow Failure v1.0 AK2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Bone Marrow Failure v1.0 AK2 Zornitza Stark edited their review of gene: AK2: Changed phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973
Combined Immunodeficiency v0.201 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness; MONDO:0009973
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Marked gene: AK2 as ready
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.200 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness
Combined Immunodeficiency v0.199 AK2 Zornitza Stark Publications for gene: AK2 were set to
Combined Immunodeficiency v0.198 AK2 Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.197 AK2 Danielle Ariti changed review comment from: PMID: 19043417. 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416. 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF.

Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.; to: PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF.

Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Sources: Literature
Combined Immunodeficiency v0.197 AK2 Danielle Ariti reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis MIM# 267500, Combined immunodeficiency, neutropenia, leukopenia, lymphopenia, agranulocytosis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary angioedema v1.1 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Hereditary angioedema v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary angioedema v0.17 SERPING1 Zornitza Stark Marked gene: SERPING1 as ready
Hereditary angioedema v0.17 SERPING1 Zornitza Stark Gene: serping1 has been classified as Green List (High Evidence).
Hereditary angioedema v0.17 SERPING1 Zornitza Stark Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM# 106100
Hereditary angioedema v0.16 SERPING1 Zornitza Stark Mode of inheritance for gene: SERPING1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary angioedema v0.15 SERPING1 Zornitza Stark reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angioedema, hereditary, 1 and 2, MIM# 106100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary angioedema v0.15 F12 Zornitza Stark Marked gene: F12 as ready
Hereditary angioedema v0.15 F12 Zornitza Stark Gene: f12 has been classified as Amber List (Moderate Evidence).
Hereditary angioedema v0.15 F12 Zornitza Stark Phenotypes for gene: F12 were changed from to Angioedema, hereditary, 3, MIM# 610618
Hereditary angioedema v0.14 F12 Zornitza Stark Publications for gene: F12 were set to
Hereditary angioedema v0.13 F12 Zornitza Stark Tag founder tag was added to gene: F12.
Hereditary angioedema v0.13 F12 Zornitza Stark Classified gene: F12 as Amber List (moderate evidence)
Hereditary angioedema v0.13 F12 Zornitza Stark Gene: f12 has been classified as Amber List (Moderate Evidence).
Hereditary angioedema v0.12 F12 Zornitza Stark reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: None; Publications: 16638441, 17186468, 19178938; Phenotypes: Angioedema, hereditary, 3, MIM# 610618; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Gene: cep104 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Renal Ciliopathies and Nephronophthisis v0.215 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.214 CEP104 Zornitza Stark Classified gene: CEP104 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.214 CEP104 Zornitza Stark Gene: cep104 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.213 CEP104 Zornitza Stark reviewed gene: CEP104: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 25, MIM# 616781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Meckel syndrome 6, MIM# 612284
Renal Ciliopathies and Nephronophthisis v0.212 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.211 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 6, MIM# 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981
Renal Ciliopathies and Nephronophthisis v0.210 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Renal Ciliopathies and Nephronophthisis v0.209 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.208 BBS2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Renal Ciliopathies and Nephronophthisis v0.207 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Renal Ciliopathies and Nephronophthisis v0.206 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.205 BBS12 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Renal Ciliopathies and Nephronophthisis v0.204 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Renal Ciliopathies and Nephronophthisis v0.203 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.202 BBS10 Zornitza Stark changed review comment from: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients; to: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients. Renal anomalies, including cysts reported.
Optic Atrophy v1.0 Zornitza Stark promoted panel to version 1.0
Optic Atrophy v0.140 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Optic Atrophy v0.140 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Optic Atrophy v0.140 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000
Optic Atrophy v0.139 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.138 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1 165500, Optic atrophy plus syndrome, MIM# 125250, Behr syndrome, MIM# 210000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8326 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Mendeliome v0.8326 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Mendeliome v0.8326 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from to Optic atrophy 7, MIM# 612989; MONDO:0013069; Syndromic auditory neuropathy spectrum disorder
Mendeliome v0.8325 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Mendeliome v0.8324 TMEM126A Zornitza Stark Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8323 TMEM126A Zornitza Stark reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19327736, 20405026, 22815638, 33879611, 31119195, 30961538; Phenotypes: Optic atrophy 7, MIM# 612989, MONDO:0013069, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.138 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Optic Atrophy v0.138 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Optic Atrophy v0.138 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from to Optic atrophy 7, MIM# 612989; MONDO:0013069
Optic Atrophy v0.137 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Optic Atrophy v0.136 TMEM126A Zornitza Stark Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.135 TMEM126A Zornitza Stark reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19327736, 20405026, 22815638, 33879611, 31119195, 30961538; Phenotypes: Optic atrophy 7, MIM# 612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.34 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Microcephaly v1.34 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Microcephaly v1.34 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Microcephaly v1.34 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Mendeliome v0.8323 MYC Zornitza Stark Marked gene: MYC as ready
Mendeliome v0.8323 MYC Zornitza Stark Gene: myc has been classified as Red List (Low Evidence).
Mendeliome v0.8323 MYC Zornitza Stark Phenotypes for gene: MYC were changed from to Burkitt lymphoma, somatic, MIM# 113970
Mendeliome v0.8322 MYC Zornitza Stark Mode of inheritance for gene: MYC was changed from Unknown to Other
Mendeliome v0.8321 MYC Zornitza Stark Classified gene: MYC as Red List (low evidence)
Mendeliome v0.8321 MYC Zornitza Stark Gene: myc has been classified as Red List (Low Evidence).
Mendeliome v0.8320 MYC Zornitza Stark reviewed gene: MYC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burkitt lymphoma, somatic, MIM# 113970; Mode of inheritance: Other
Microcephaly v1.33 SPATA5 Elena Savva gene: SPATA5 was added
gene: SPATA5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to PMID: 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Review for gene: SPATA5 was set to GREEN
Added comment: PMID: 26299366 - 12/14 patients presented with microcephaly, incl 4x with congenital microcephaly and another 4 with acquired microcephaly
Sources: Literature
Metal Metabolism Disorders v0.23 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Monogenic Diabetes v0.21 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Mendeliome v0.8318 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Optic Atrophy v0.135 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Optic Atrophy v0.135 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Optic Atrophy v0.135 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.135 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Optic Atrophy v0.135 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.134 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3978 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3977 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Ataxia v0.287 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Ataxia v0.287 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Ataxia v0.287 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Ataxia v0.287 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Ataxia v0.286 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Mendeliome v0.8318 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Mendeliome v0.8318 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Mendeliome v0.8318 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Mendeliome v0.8318 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Mendeliome v0.8318 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Mendeliome v0.8317 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.
Sources: Literature
Mendeliome v0.8316 ADA Zornitza Stark Marked gene: ADA as ready
Mendeliome v0.8316 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Mendeliome v0.8316 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Mendeliome v0.8315 ADA Zornitza Stark Publications for gene: ADA were set to
Mendeliome v0.8314 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8313 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.226 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Leukodystrophy v0.226 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Leukodystrophy v0.226 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Leukodystrophy v0.226 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Leukodystrophy v0.225 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Autoinflammatory Disorders v0.114 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Genetic Epilepsy v0.1141 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Genetic Epilepsy v0.1141 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3976 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1140 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mendeliome v0.8313 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Mendeliome v0.8313 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mendeliome v0.8313 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Mendeliome v0.8313 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3975 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mendeliome v0.8312 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.640 C2orf69 Zornitza Stark edited their review of gene: C2orf69: Changed publications: 34038740, 33945503
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Publications for gene: C2orf69 were set to 34038740
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.638 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3974 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; dysmorphic features; short stature; no OMIM number yet to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature
Intellectual disability syndromic and non-syndromic v0.3973 KDM3B Zornitza Stark reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, dysmorphic features, short stature, Intellectual disability, short stature, deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.83 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature; deafness to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness
Deafness_IsolatedAndComplex v1.82 KDM3B Zornitza Stark edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, short stature, deafness
Mendeliome v0.8311 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; dysmorphic features; short stature to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; dysmorphic features; short stature
Mendeliome v0.8310 KDM3B Zornitza Stark edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, dysmorphic features, short stature
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Marked gene: KDM3B as ready
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.105 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from to Diets-Jongmans syndrome, MIM# 618846; Cancer predisposition
Cancer Predisposition_Paediatric v0.104 KDM3B Zornitza Stark Classified gene: KDM3B as Green List (high evidence)
Cancer Predisposition_Paediatric v0.104 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.8310 NYNRIN Zornitza Stark Marked gene: NYNRIN as ready
Mendeliome v0.8310 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8310 NYNRIN Zornitza Stark Phenotypes for gene: NYNRIN were changed from to Wilms tumour predisposition
Mendeliome v0.8309 NYNRIN Zornitza Stark Classified gene: NYNRIN as Amber List (moderate evidence)
Mendeliome v0.8309 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Marked gene: NYNRIN as ready
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.103 NYNRIN Zornitza Stark Phenotypes for gene: NYNRIN were changed from to Wilms tumour predisposition
Cancer Predisposition_Paediatric v0.102 NYNRIN Zornitza Stark Classified gene: NYNRIN as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.102 NYNRIN Zornitza Stark Gene: nynrin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8308 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome to FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition
Mendeliome v0.8307 FBXW7 Zornitza Stark Publications for gene: FBXW7 were set to 33057194
Mendeliome v0.8306 FBXW7 Zornitza Stark reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30885698, 26482194; Phenotypes: Wilms tumour predisposition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.101 KDM3B Laura Raiti gene: KDM3B was added
gene: KDM3B was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to PMID: 30885698; 29351919
Review for gene: KDM3B was set to GREEN
Added comment: PMID: 30885698
2 two de-novo KDM3B mutations identified.
- 1 child (missense mutation) with Wilms tumour and a hyperpigmented lesion on her
buttock
- 1 child (truncating variant) with hepatoblastoma, hyperpigmentation and hypopigmentation, autism, and intellectual disability

PMID: 29351919
2 individuals with KDM3B variants
- 1 individual had a KDM3B truncating variant with acute myeloid leukaemia, mild intellectual disability, and hip dysplasia
- 1 individual had a de novo missense KDM3B with Hodgkins lymphoma and
moderate intellectual disability.
KDM3B is highly intolerant to both protein-truncating variants (pLI=1·00)
and non-synonymous variation (Z=4·99; the Z score is the
deviation of observation from expectation for non-synonymous variants).

KDM3B is involved in H3K9 demethylation, which is part of chromatin remodeling. Mutations in several components of chromatin remodeling pathways have been found to cause both syndromes characterized by ID and syndromes with cancer predisposition
Sources: Literature
Mendeliome v0.8306 NYNRIN Laura Raiti gene: NYNRIN was added
gene: NYNRIN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NYNRIN were set to PMID: 30885698
Review for gene: NYNRIN was set to AMBER
Added comment: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family).
Biallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations.
One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability.
Sources: Literature
Cancer Predisposition_Paediatric v0.101 NYNRIN Laura Raiti gene: NYNRIN was added
gene: NYNRIN was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NYNRIN were set to PMID: 30885698
Review for gene: NYNRIN was set to AMBER
Added comment: 3 individuals with Wilms Tumour reported (2 children from 1 family, the 3rd child from a second family).
Biallelic truncating mutations in NYNRIN in three children with Wilms Tumour from two families, each parent was heterozygous for one of the mutations.
One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability.
Sources: Literature
Cancer Predisposition_Paediatric v0.101 FBXW7 Laura Raiti gene: FBXW7 was added
gene: FBXW7 was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW7 were set to PMID: 30885698; PMID: 26482194
Review for gene: FBXW7 was set to GREEN
Added comment: PMID: 30885698
4 individuals with germline truncating variants in FBXW7. Highly intolerant to protein-truncating variants with pLI score= 1.
- 1 individual developed a second malignancy (osteosarcoma) as an adult in addition to childhood Wilms tumour.
- 1 individual had a de novo missense variant (a child with an extra-renal rhabdoid tumour)

PMID: 26482194
1 patient with Hodgkin lymphoma, adult Wilms tumour, early-onset breast cancer, and a constitutional FBXW7 deletion was reported
Sources: Literature
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Marked gene: YARS as ready
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Classified gene: YARS as Green List (high evidence)
Deafness_IsolatedAndComplex v1.82 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.81 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Review for gene: YARS was set to GREEN
Added comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3973 YARS Zornitza Stark Phenotypes for gene: YARS were changed from Intellectual disability; deafness; nystagmus; liver dysfunction to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Intellectual disability syndromic and non-syndromic v0.3972 YARS Zornitza Stark edited their review of gene: YARS: Changed phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Mendeliome v0.8306 YARS Zornitza Stark Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C 608323; Bi-allelic variants: ID, deafness, nystagmus to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012; Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Mendeliome v0.8305 YARS Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: Mono-allelic disease: More than 5 unrelated families reported.
Mendeliome v0.8305 YARS Zornitza Stark edited their review of gene: YARS: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8305 YARS Zornitza Stark edited their review of gene: YARS: Changed phenotypes: Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323, MONDO:0012012, Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Renal Ciliopathies and Nephronophthisis v0.201 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Renal Ciliopathies and Nephronophthisis v0.200 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.199 BBS1 Zornitza Stark changed review comment from: Well established gene-disease association.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.; to: Well established gene-disease association. Renal abnormalities reported.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.
Intellectual disability syndromic and non-syndromic v0.3972 ERGIC3 Zornitza Stark Phenotypes for gene: ERGIC3 were changed from 33710394; 31585110 to Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3971 ERGIC3 Zornitza Stark Publications for gene: ERGIC3 were set to ERGIC3
Intellectual disability syndromic and non-syndromic v0.3970 ERGIC3 Zornitza Stark reviewed gene: ERGIC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33710394, 31585110; Phenotypes: Intellectual disability; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3970 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to 21734151; 33710394
Intellectual disability syndromic and non-syndromic v0.3969 ZC3H14 Zornitza Stark reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: 28666327; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8305 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to 21734151; 28666327
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Added comment: PMID: 33710394
1 Finnish family with a hom splice variant, severe ID. Classed a VUS. No functional evidence; Changed publications: 21734151, 28666327, 33710394
Mendeliome v0.8304 ZC3H14 Zornitza Stark Deleted their comment
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Added comment: Two families and a mouse model.; Changed phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Changed publications: 21734151, 28666327
Mendeliome v0.8304 ZC3H14 Zornitza Stark edited their review of gene: ZC3H14: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8304 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to 21734151
Mendeliome v0.8303 ZC3H14 Zornitza Stark Mode of inheritance for gene: ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8302 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Mendeliome v0.8302 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.107 DLX5 Zornitza Stark Mode of inheritance for gene: DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.106 DLX5 Zornitza Stark reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Marked gene: RNF2 as ready
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Classified gene: RNF2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1139 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1138 RNF2 Zornitza Stark gene: RNF2 was added
gene: RNF2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF2 were set to 33864376
Phenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation
Review for gene: RNF2 was set to AMBER
Added comment: Not associated with any phenotype in OMIM. PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Marked gene: RNF2 as ready
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Classified gene: RNF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3969 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3968 RNF2 Zornitza Stark gene: RNF2 was added
gene: RNF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF2 were set to 33864376
Phenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation
Review for gene: RNF2 was set to AMBER
Added comment: Not associated with any phenotype in OMIM. PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Mendeliome v0.8302 RNF2 Zornitza Stark Marked gene: RNF2 as ready
Mendeliome v0.8302 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8302 RNF2 Zornitza Stark Classified gene: RNF2 as Amber List (moderate evidence)
Mendeliome v0.8302 RNF2 Zornitza Stark Gene: rnf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3967 RING1 Zornitza Stark Marked gene: RING1 as ready
Intellectual disability syndromic and non-syndromic v0.3967 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3967 RING1 Zornitza Stark gene: RING1 was added
gene: RING1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RING1 were set to 29386386
Phenotypes for gene: RING1 were set to microcephaly; intellectual disability
Review for gene: RING1 was set to RED
Added comment: Not associated with any phenotype in OMIM. PMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Early motor and language development were normal but were delayed after the first year of life. Cognitive testing showed a verbal IQ of 55 and a visual performance IQ of 63. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance.
Sources: Literature
Mendeliome v0.8301 RING1 Zornitza Stark Marked gene: RING1 as ready
Mendeliome v0.8301 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Mendeliome v0.8301 RING1 Zornitza Stark Classified gene: RING1 as Red List (low evidence)
Mendeliome v0.8301 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Classified gene: IRX5 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.29 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.28 IRX5 Zornitza Stark gene: IRX5 was added
gene: IRX5 was added to Cone-rod Dystrophy. Sources: Literature
SV/CNV tags were added to gene: IRX5.
Mode of inheritance for gene: IRX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX5 were set to 33891002; 28041643; 32045705; 22581230; 17230486
Phenotypes for gene: IRX5 were set to cone dystrophy, MONDO:0000455
Mode of pathogenicity for gene: IRX5 was set to Other
Review for gene: IRX5 was set to AMBER
Added comment: Evidence from CNVs only

Duplication of gene
-------------------
PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Loss of function/gene
---------
PMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa.

PMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3966 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Intellectual disability syndromic and non-syndromic v0.3966 IRX5 Zornitza Stark Gene: irx5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3966 IRX5 Zornitza Stark Phenotypes for gene: IRX5 were changed from to Hamamy syndrome, MIM# 611174
Intellectual disability syndromic and non-syndromic v0.3965 IRX5 Zornitza Stark Publications for gene: IRX5 were set to
Intellectual disability syndromic and non-syndromic v0.3964 IRX5 Zornitza Stark Mode of inheritance for gene: IRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3963 IRX5 Zornitza Stark Classified gene: IRX5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3963 IRX5 Zornitza Stark Gene: irx5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3962 IRX5 Zornitza Stark reviewed gene: IRX5: Rating: RED; Mode of pathogenicity: None; Publications: 22581230, 27453922; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8300 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Mendeliome v0.8300 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8300 IRX5 Zornitza Stark Tag SV/CNV tag was added to gene: IRX5.
Mendeliome v0.8300 IRX5 Zornitza Stark Phenotypes for gene: IRX5 were changed from to Hamamy syndrome, MIM# 611174; cone dystrophy, MONDO:0000455
Mendeliome v0.8299 IRX5 Zornitza Stark Publications for gene: IRX5 were set to
Mendeliome v0.8298 IRX5 Zornitza Stark Mode of inheritance for gene: IRX5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8297 IRX5 Zornitza Stark Classified gene: IRX5 as Amber List (moderate evidence)
Mendeliome v0.8297 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8296 IRX5 Zornitza Stark edited their review of gene: IRX5: Changed rating: AMBER
Mendeliome v0.8296 IRX5 Zornitza Stark reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581230, 27453922; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.27 IRX6 Zornitza Stark Mode of pathogenicity for gene: IRX6 was changed from None to Other
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Marked gene: IRX6 as ready
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Classified gene: IRX6 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.26 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.25 IRX6 Zornitza Stark Tag SV/CNV tag was added to gene: IRX6.
Cone-rod Dystrophy v0.25 IRX6 Zornitza Stark gene: IRX6 was added
gene: IRX6 was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX6 were set to 33891002
Phenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455
Review for gene: IRX6 was set to AMBER
Added comment: PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Evidence from CNVs only, two genes included.
Sources: Literature
Mendeliome v0.8296 IRX6 Zornitza Stark reviewed gene: IRX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8296 IRX6 Zornitza Stark Marked gene: IRX6 as ready
Mendeliome v0.8296 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8296 IRX6 Zornitza Stark Classified gene: IRX6 as Amber List (moderate evidence)
Mendeliome v0.8296 IRX6 Zornitza Stark Gene: irx6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3962 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Intellectual disability syndromic and non-syndromic v0.3962 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3962 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Intellectual disability syndromic and non-syndromic v0.3961 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Intellectual disability syndromic and non-syndromic v0.3960 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3959 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520, 23420520, 30730599; Phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8295 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Mendeliome v0.8294 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to 15696165; 20512159; 23420520
Mendeliome v0.8293 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Multiple families reported.; to: Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.

Martsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.
Mendeliome v0.8293 RAB3GAP1 Zornitza Stark edited their review of gene: RAB3GAP1: Changed publications: 15696165, 20512159, 23420520, 23420520, 30730599; Changed phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420
Cataract v0.284 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Cataract v0.283 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to 15696165; 20512159; 23420520
Cataract v0.282 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.; to: Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.

Martsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.
Cataract v0.282 RAB3GAP1 Zornitza Stark edited their review of gene: RAB3GAP1: Changed publications: 15696165, 20512159, 23420520, 23420520, 30730599; Changed phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420
Mendeliome v0.8293 CXCR2 Zornitza Stark Marked gene: CXCR2 as ready
Mendeliome v0.8293 CXCR2 Zornitza Stark Gene: cxcr2 has been classified as Red List (Low Evidence).
Mendeliome v0.8293 CXCR2 Zornitza Stark gene: CXCR2 was added
gene: CXCR2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453
Phenotypes for gene: CXCR2 were set to WHIM syndrome 2, 619407
Review for gene: CXCR2 was set to RED
Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Expert list
Phagocyte Defects v0.67 CXCR2 Zornitza Stark Marked gene: CXCR2 as ready
Phagocyte Defects v0.67 CXCR2 Zornitza Stark Gene: cxcr2 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.67 CXCR2 Zornitza Stark gene: CXCR2 was added
gene: CXCR2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453
Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407
Review for gene: CXCR2 was set to RED
Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Expert list
Complement Deficiencies v0.36 C4A Bryony Thompson Tag for review tag was added to gene: C4A.
Complement Deficiencies v0.36 C4B Bryony Thompson Tag for review tag was added to gene: C4B.
Mendeliome v0.8292 RING1 Eleanor Williams gene: RING1 was added
gene: RING1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RING1 were set to 29386386
Phenotypes for gene: RING1 were set to microcephaly; intellectual disability
Review for gene: RING1 was set to RED
Added comment: Not associated with any phenotype in OMIM.

PMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Early motor and language development were normal but were delayed after the first year of life. Cognitive testing showed a verbal IQ of 55 and a visual performance IQ of 63. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance.
Sources: Literature
Mendeliome v0.8292 RNF2 Eleanor Williams gene: RNF2 was added
gene: RNF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF2 were set to 33864376
Phenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation
Review for gene: RNF2 was set to AMBER
Added comment: Not associated with any phenotype in OMIM.

PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Mendeliome v0.8292 IRX5 Eleanor Williams edited their review of gene: IRX5: Changed publications: 33891002, 28041643, 32045705, 22581230, 17230486; Changed phenotypes: cone dystrophy, MONDO:0000455, retinitis pigmentosa, MONDO:0019200
Mendeliome v0.8292 IRX5 Eleanor Williams changed review comment from: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition.

Cone dystrophy
-------------------
PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.; to: Associated with Hamamy syndrome #611174 (AR) in OMIM. Hamamy syndrome is characterised by craniofacial dysmorphism, hearing loss, skeletal anomalies, microcytic hypochromic anemia and congenital heart defects. Severe myopia has also been reported. Homozygous missense variants in IRX5 were reported in 2 families with this condition (PMID: 22581230;17230486)

Duplication of gene
-------------------
PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.

Loss of function/gene
---------
PMID: 28041643 - Carss et al 2017 - screened a cohort of 722 individuals with inherited retinal disease using WES/WGS. 1 case reported with a biallelic deletion in IRX5 reported which leads to a frameshift ENST00000394636.4; c.1362_1366delTAAAG, p.Lys455ProfsTer19 in a patient with retinitis pigmentosa.

PMID: 32045705 - Apuzzo et al 2020 - report 2 cases of loss of a region in 16q12.1q21 which encompasses IRX5 and IRX6 and many other genes, which together with 3 other previous reports of deletions in this region help define a syndrome with features that include dysmorphic features, short stature, microcephaly, global developmental delay/intellectual disability, autism spectrum disorder (ASD) and ocular abnormalities (nystagmus and strabismus).
Mendeliome v0.8292 IRX6 Eleanor Williams changed review comment from: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.
Sources: Literature; to: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Kohl et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.
Sources: Literature
Mendeliome v0.8292 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Mendeliome v0.8292 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3959 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Intellectual disability syndromic and non-syndromic v0.3959 GNB2 Zornitza Stark Gene: gnb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3959 GNB2 Zornitza Stark Publications for gene: GNB2 were set to 31698099
Intellectual disability syndromic and non-syndromic v0.3958 GNB2 Zornitza Stark Classified gene: GNB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3958 GNB2 Zornitza Stark Gene: gnb2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3957 GNB2 Zornitza Stark reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358, 33057194; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8292 GNB2 Zornitza Stark Publications for gene: GNB2 were set to 31698099
Mendeliome v0.8291 GNB2 Zornitza Stark Classified gene: GNB2 as Green List (high evidence)
Mendeliome v0.8291 GNB2 Zornitza Stark Gene: gnb2 has been classified as Green List (High Evidence).
Mendeliome v0.8290 GNB2 Zornitza Stark reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.304 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Callosome v0.304 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Marked gene: HID1 as ready
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Pituitary hormone deficiency v0.13 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Callosome v0.303 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Callosome. Sources: 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 Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Pituitary hormone deficiency v0.12 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Pituitary hormone deficiency. Sources: 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 Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Marked gene: HID1 as ready
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3957 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3956 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3956 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Mendeliome v0.8290 HID1 Zornitza Stark Marked gene: HID1 as ready
Mendeliome v0.8290 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3955 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Intellectual disability syndromic and non-syndromic. Sources: 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 Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Mendeliome v0.8290 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Mendeliome v0.8290 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Mendeliome v0.8289 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Mendeliome. Sources: 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 Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Marked gene: HID1 as ready
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Genetic Epilepsy v0.1137 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1136 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Genetic Epilepsy. Sources: 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 Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Mendeliome v0.8288 KIF1B Zornitza Stark Marked gene: KIF1B as ready
Mendeliome v0.8288 KIF1B Zornitza Stark Gene: kif1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8288 KIF1B Zornitza Stark Phenotypes for gene: KIF1B were changed from to Charcot-Marie-Tooth disease, type 2A1 MIM#118210; Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay
Mendeliome v0.8287 KIF1B Zornitza Stark Publications for gene: KIF1B were set to
Mendeliome v0.8286 KIF1B Zornitza Stark Mode of inheritance for gene: KIF1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8285 KIF1B Zornitza Stark reviewed gene: KIF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Marked gene: KIF1B as ready
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Classified gene: KIF1B as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3954 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Marked gene: ERGIC3 as ready
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Classified gene: ERGIC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3953 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.33 NUF2 Zornitza Stark Marked gene: NUF2 as ready
Microcephaly v1.33 NUF2 Zornitza Stark Gene: nuf2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3952 ERGIC3 Seb Lunke gene: ERGIC3 was added
gene: ERGIC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ERGIC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC3 were set to ERGIC3
Phenotypes for gene: ERGIC3 were set to 33710394; 31585110
Review for gene: ERGIC3 was set to AMBER
Added comment: PMID: 33710394 - two homozygous sibs with mild ID, a novel canonical splice (c.717+1G>A). Absent in gnomAD, no splice studies. Classed as a VUS.

PMID: 31585110 - 1 hom (p.Gln233Argfs*10) in a male 8yo with Growth retardation, Microcephaly, Learning disability, Facial dysmorphism, Abnormal pigmentation.
Sources: Literature
Microcephaly v1.33 NUF2 Zornitza Stark gene: NUF2 was added
gene: NUF2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUF2 were set to 33721060
Phenotypes for gene: NUF2 were set to microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect
Review for gene: NUF2 was set to RED
Added comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect.
Sources: Literature
Mendeliome v0.8285 NUF2 Zornitza Stark Marked gene: NUF2 as ready
Mendeliome v0.8285 NUF2 Zornitza Stark Gene: nuf2 has been classified as Red List (Low Evidence).
Mendeliome v0.8285 NUF2 Zornitza Stark Classified gene: NUF2 as Red List (low evidence)
Mendeliome v0.8285 NUF2 Zornitza Stark Gene: nuf2 has been classified as Red List (Low Evidence).
Mendeliome v0.8284 ERGIC3 Seb Lunke Marked gene: ERGIC3 as ready
Mendeliome v0.8284 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8284 ERGIC3 Seb Lunke Classified gene: ERGIC3 as Amber List (moderate evidence)
Mendeliome v0.8284 ERGIC3 Seb Lunke Gene: ergic3 has been classified as Amber List (Moderate Evidence).
Cataract v0.282 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Cataract v0.282 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Cataract v0.282 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from to Cataract 18, MIM#610019
Mendeliome v0.8283 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Mendeliome v0.8283 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Mendeliome v0.8283 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from to Cataract 18, MIM#610019
Mendeliome v0.8282 FYCO1 Zornitza Stark Publications for gene: FYCO1 were set to
Mendeliome v0.8281 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3951 JPH3 Seb Lunke Marked gene: JPH3 as ready
Intellectual disability syndromic and non-syndromic v0.3951 JPH3 Seb Lunke Gene: jph3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3951 JPH3 Seb Lunke gene: JPH3 was added
gene: JPH3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: JPH3 was set to Unknown
Publications for gene: JPH3 were set to 33824468
Phenotypes for gene: JPH3 were set to Intellectual disability; dystonia
Review for gene: JPH3 was set to RED
Added comment: One homozygous truncating variant (NM_020655.4: c.1740dup; p.(Val581Argfs*137)) found in a female individual affected with genetically undetermined neurodevelopmental anomalies (including delayed motor milestones, abnormal social communication, language difficulties and borderline cognitive impairment) and paroxysmal attacks of dystonia since her early infancy. No functional work were performed.

Only STRs disease causing, see separate STR list. No evidence for SNVs etc.
Sources: Literature
Mendeliome v0.8280 FYCO1 Zornitza Stark reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32355443; Phenotypes: Cataract 18, MIM#610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.281 FYCO1 Zornitza Stark Publications for gene: FYCO1 were set to
Cataract v0.280 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.280 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8280 JPH3 Seb Lunke Publications for gene: JPH3 were set to
Mendeliome v0.8279 MYT1 Zornitza Stark Publications for gene: MYT1 were set to 28612832; 32871052; 27358179
Mendeliome v0.8278 JPH3 Seb Lunke Marked gene: JPH3 as ready
Mendeliome v0.8278 JPH3 Seb Lunke Gene: jph3 has been classified as Red List (Low Evidence).
Mendeliome v0.8278 JPH3 Seb Lunke Phenotypes for gene: JPH3 were changed from to Intellectual disability; dystonia
Mendeliome v0.8277 MYT1 Zornitza Stark changed review comment from: Five unrelated individuals reported with variants in this gene and OAV spectrum.; to: Five unrelated individuals reported with variants in this gene and OAV spectrum.

Single individual reported with missense variant as part of an ID cohort, limited evidence for disease association.
Mendeliome v0.8277 JPH3 Seb Lunke Classified gene: JPH3 as Red List (low evidence)
Mendeliome v0.8277 JPH3 Seb Lunke Added comment: Comment on list classification: Only STRs disease causing, see separate STR list. No evidence for SNVs etc.
Mendeliome v0.8277 JPH3 Seb Lunke Gene: jph3 has been classified as Red List (Low Evidence).
Mendeliome v0.8276 MYT1 Zornitza Stark edited their review of gene: MYT1: Changed publications: 28612832, 32871052, 27358179, 33710394
Mendeliome v0.8276 MYT1 Zornitza Stark Marked gene: MYT1 as ready
Mendeliome v0.8276 MYT1 Zornitza Stark Gene: myt1 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.40 MYT1 Zornitza Stark Marked gene: MYT1 as ready
Mandibulofacial Acrofacial dysostosis v0.40 MYT1 Zornitza Stark Gene: myt1 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.40 MYT1 Zornitza Stark Phenotypes for gene: MYT1 were changed from to Craniofacial microsomia; OAV spectrum
Mandibulofacial Acrofacial dysostosis v0.39 MYT1 Zornitza Stark Publications for gene: MYT1 were set to
Mandibulofacial Acrofacial dysostosis v0.38 MYT1 Zornitza Stark Mode of inheritance for gene: MYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.37 MYT1 Zornitza Stark reviewed gene: MYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612832, 32871052, 27358179; Phenotypes: Craniofacial microsomia, OAV spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8276 MYT1 Zornitza Stark Phenotypes for gene: MYT1 were changed from to Craniofacial microsomia; OAV spectrum
Mendeliome v0.8275 MYT1 Zornitza Stark Publications for gene: MYT1 were set to
Mendeliome v0.8274 MYT1 Zornitza Stark Mode of inheritance for gene: MYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8273 MYT1 Zornitza Stark reviewed gene: MYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612832, 32871052, 27358179; Phenotypes: Craniofacial microsomia, OAV spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3950 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Genetic Epilepsy v0.1135 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.13 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Marked gene: MYT1 as ready
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Gene: myt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Classified gene: MYT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3949 MYT1 Zornitza Stark Gene: myt1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3948 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria
Intellectual disability syndromic and non-syndromic v0.3947 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria
Intellectual disability syndromic and non-syndromic v0.3947 HEATR5B Seb Lunke gene: HEATR5B was added
gene: HEATR5B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia; intellectual disability; seizures
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable. *NOTE: gene (and alias) not found in OMIM
Sources: Literature
Genetic Epilepsy v0.1134 HEATR5B Seb Lunke gene: HEATR5B was added
gene: HEATR5B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia; intellectual disability; seizures
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable. *NOTE: gene (and alias) not found in OMIM
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3947 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290 to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria
Cerebellar and Pontocerebellar Hypoplasia v1.12 HEATR5B Seb Lunke gene: HEATR5B was added
gene: HEATR5B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia; intellectual disability; seizures
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable. *NOTE: gene (and alias) not found in OMIM
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3946 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Intellectual disability syndromic and non-syndromic v0.3945 ATP1A2 Zornitza Stark changed review comment from: Although some of the symptoms of this condition are episodic, intellectual disability is a recognised feature.; to: Alternating hemiplegia: Although some of the symptoms of this condition are episodic, intellectual disability is a recognised feature.
Intellectual disability syndromic and non-syndromic v0.3945 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Added comment: PMID 33880529: six individuals with de novo missense variants reported and DD/EE/PMG.; Changed publications: 33880529; Changed phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290, Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.8273 HEATR5B Seb Lunke Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia to pontocerebellar hypoplasia; intellectual disability; seizures
Mendeliome v0.8272 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM#104290; Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.8271 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Mendeliome v0.8270 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8269 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Added comment: Association with alternating hemiplegia is well established.

PMID 31608932: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal.

PMID 33880529: six individuals with de novo missense variants reported and DD/EE/PMG.; Changed rating: GREEN; Changed publications: 31608932, 33880529; Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8269 HEATR5B Seb Lunke Marked gene: HEATR5B as ready
Mendeliome v0.8269 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.164 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria
Polymicrogyria and Schizencephaly v0.163 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.162 ATP1A2 Zornitza Stark changed review comment from: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.; to: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.

33880529: six individuals with de novo missense variants reported and DD/EE/PMG.
Polymicrogyria and Schizencephaly v0.162 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529; Changed phenotypes: Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1133 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Genetic Epilepsy v0.1133 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1133 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria
Genetic Epilepsy v0.1132 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Genetic Epilepsy v0.1131 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8269 HEATR5B Seb Lunke Classified gene: HEATR5B as Amber List (moderate evidence)
Mendeliome v0.8269 HEATR5B Seb Lunke Gene: heatr5b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3945 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM#614820 to Alternating hemiplegia of childhood 2, MIM#614820; Developmental and epileptic encephalopathy, polymicrogyria
Intellectual disability syndromic and non-syndromic v0.3944 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Intellectual disability syndromic and non-syndromic v0.3943 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Added comment: PMID 33880529: 16 individuals reported with DD/EE and PMG.; Changed rating: GREEN; Changed publications: 33880529; Changed phenotypes: Alternating hemiplegia of childhood 2, MIM#614820, Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.8268 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235, Polymicrogyria, Developmental and epileptic encephalopathy
Mendeliome v0.8268 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed publications: 15260953, 22842232, 24468074, 33762331, 33880529
Genetic Epilepsy v0.1130 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Genetic Epilepsy v0.1130 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.162 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to PMID: 33762331
Intellectual disability syndromic and non-syndromic v0.3943 ZC3H14 Seb Lunke reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1130 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria
Polymicrogyria and Schizencephaly v0.161 ATP1A3 Zornitza Stark changed review comment from: Eight individuals with de novo variants reported.; to: Eight individuals with de novo variants reported.

PMID 33880529: further 16 individuals reported.
Genetic Epilepsy v0.1129 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Polymicrogyria and Schizencephaly v0.161 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed publications: 33762331, 33880529; Changed phenotypes: Polymicrogyria, epilepsy, developmental delay, epileptic encephalopathy
Genetic Epilepsy v0.1128 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3943 ZC3H14 Seb Lunke Publications for gene: ZC3H14 were set to PubMed: 21734151
Genetic Epilepsy v0.1127 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8268 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from Ataxia-pancytopenia syndrome, MIM# 159550 to Ataxia-pancytopenia syndrome, MIM# 159550; Intellectual disability
Mendeliome v0.8267 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to 27259050; 30923096; 30322869
Mendeliome v0.8266 SAMD9L Zornitza Stark changed review comment from: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.; to: Ataxia-pancytopaenia: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.

ID: single individual reported, limited evidence of association.
Intellectual disability syndromic and non-syndromic v0.3942 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to
Mendeliome v0.8266 SAMD9L Zornitza Stark edited their review of gene: SAMD9L: Changed publications: 27259050, 30923096, 30322869, 33710394
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Gene: samd9l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Classified gene: SAMD9L as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3941 SAMD9L Zornitza Stark Gene: samd9l has been classified as Red List (Low Evidence).
Microcephaly v1.32 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Kidneyome_SuperPanel v4.69 Bryony Thompson Changed child panels to: Renal Tubulointerstitial Disease; Renal Hypertension and Disorders of Aldosterone Metabolism; Haematuria_Alport; Branchio-oto-renal Syndrome; Renal Ciliopathies and Nephronophthisis; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic; Renal Tubulopathies; Nephrolithiasis and Nephrocalcinosis; Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN; Renal abnormalities of calcium and phosphate metabolism; Renal Abnormalities of Magnesium Metabolism; Renal Amyloidosis; Bartter Syndrome; Metabolic renal disease; Dent disease; Renal Tubular Dysgenesis; Hyperoxaluria
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Hyperthyroidism v0.19 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa v0.96 DYNC2H1 Ee Ming Wong gene: DYNC2H1 was added
gene: DYNC2H1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to PMID: 32753734
Phenotypes for gene: DYNC2H1 were set to non-syndromic retinitis pigmentosa
Review for gene: DYNC2H1 was set to GREEN
gene: DYNC2H1 was marked as current diagnostic
Added comment: - Five affected probands with homozygous and compound heterozygous missense and PTC variants
- Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies)
Sources: Literature
Ataxia v0.285 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Ataxia v0.284 PITRM1 Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis
Intellectual disability syndromic and non-syndromic v0.3940 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Ataxia; Intellectual disability to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Intellectual disability syndromic and non-syndromic v0.3939 PITRM1 Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis
Mitochondrial disease v0.637 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Mitochondrial disease v0.636 PITRM1 Zornitza Stark reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8266 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Ataxia; Intellectual disability to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Mendeliome v0.8265 PITRM1 Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405
Dystonia and Chorea v0.183 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Dystonia and Chorea v0.182 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Ataxia v0.284 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability; ataxia; cerebellar atrophy to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Ataxia v0.283 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Intellectual disability syndromic and non-syndromic v0.3939 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Intellectual disability syndromic and non-syndromic v0.3938 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Regression v0.356 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Regression v0.355 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Mendeliome v0.8265 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Mendeliome v0.8264 IRX6 Eleanor Williams gene: IRX6 was added
gene: IRX6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRX6 were set to 33891002
Phenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455
Mode of pathogenicity for gene: IRX6 was set to Other
Review for gene: IRX6 was set to GREEN
Added comment: Not associated with any disorder in OMIM or Gene2Phenotype.

PMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.

Initial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.

They find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae.
Sources: Literature
Mendeliome v0.8264 IRX5 Eleanor Williams reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33891002; Phenotypes: cone dystrophy, MONDO:0000455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.3938 GNB2 Arina Puzriakova reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.8264 EPHA7 Zornitza Stark Tag SV/CNV tag was added to gene: EPHA7.
Mendeliome v0.8264 EPHA7 Zornitza Stark Marked gene: EPHA7 as ready
Mendeliome v0.8264 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8264 EPHA7 Zornitza Stark Classified gene: EPHA7 as Amber List (moderate evidence)
Mendeliome v0.8264 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8263 EPHA7 Zornitza Stark gene: EPHA7 was added
gene: EPHA7 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: EPHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHA7 were set to 34176129
Phenotypes for gene: EPHA7 were set to Intellectual disability
Review for gene: EPHA7 was set to AMBER
Added comment: Lévy et al (2021 - PMID: 34176129) provide evidence that haploinssuficiency of EPHA7 results in a neurodevelopmental disorder.

The authors report on 12 individuals belonging to 9 unrelated families, all harboring with 6q microdeletions spanning EPHA7.

Overlapping features included DD (13/13), ID (10/10 - mild in most cases, individuals with larger CNVs/additional variants had more severe phenotype), speech delay and behavioral disorders. Variable other features incl. hypotonia (70%), non specific facial features, eye abnormalities (40%) and cardiac defects (25%).

The CNVs ranged from 152 kb to few Mb in size but in 4 subjects (P5-8) were only minimal, involving only EPHA7.

9 out of 12 individuals had inherited the deletion (5 subjects paternal, 4 maternal), in 1 subject (P12) this occured de novo, while for 2 others inheritance was not specified. Most deletions were inherited from an unaffected parent (in 6/7 families), with unclear contribution in a further one.

The authors discuss on previous studies suggesting an important role for EphA7 in brain development (modulation of cell-cell adhesion and repulsion, regulation of dendrite morphogenesis in early corticogenesis, role in dendritic spine formation later in development. EphA7 has also been proposed to drive neuronal maturation and synaptic function).

Haploinsufficiency for other ephrins or ephrin receptors has been implicated in other NDDs.

Overall Lévy et al promote incomplete penetrance and variable expressivity with haploinsufficiency of this gene being a risk factor for NDD. [The gene has also an %HI of 2.76% and a pLI of 1].
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Marked gene: EPHA7 as ready
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Classified gene: EPHA7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3938 EPHA7 Zornitza Stark Gene: epha7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3937 EPHA7 Zornitza Stark gene: EPHA7 was added
gene: EPHA7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
SV/CNV tags were added to gene: EPHA7.
Mode of inheritance for gene: EPHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHA7 were set to 34176129
Phenotypes for gene: EPHA7 were set to Intellectual disability
Review for gene: EPHA7 was set to AMBER
Added comment: Lévy et al (2021 - PMID: 34176129) provide evidence that haploinssuficiency of EPHA7 results in a neurodevelopmental disorder.

The authors report on 12 individuals belonging to 9 unrelated families, all harboring with 6q microdeletions spanning EPHA7.

Overlapping features included DD (13/13), ID (10/10 - mild in most cases, individuals with larger CNVs/additional variants had more severe phenotype), speech delay and behavioral disorders. Variable other features incl. hypotonia (70%), non specific facial features, eye abnormalities (40%) and cardiac defects (25%).

The CNVs ranged from 152 kb to few Mb in size but in 4 subjects (P5-8) were only minimal, involving only EPHA7.



9 out of 12 individuals had inherited the deletion (5 subjects paternal, 4 maternal), in 1 subject (P12) this occured de novo, while for 2 others inheritance was not specified. Most deletions were inherited from an unaffected parent (in 6/7 families), with unclear contribution in a further one.

The authors discuss on previous studies suggesting an important role for EphA7 in brain development (modulation of cell-cell adhesion and repulsion, regulation of dendrite morphogenesis in early corticogenesis, role in dendritic spine formation later in development. EphA7 has also been proposed to drive neuronal maturation and synaptic function).

Haploinsufficiency for other ephrins or ephrin receptors has been implicated in other NDDs.

Overall Lévy et al promote incomplete penetrance and variable expressivity with haploinsufficiency of this gene being a risk factor for NDD. [The gene has also an %HI of 2.76% and a pLI of 1].
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3936 DNM1 Zornitza Stark Marked gene: DNM1 as ready
Intellectual disability syndromic and non-syndromic v0.3936 DNM1 Zornitza Stark Gene: dnm1 has been classified as Green List (High Evidence).
Mendeliome v0.8262 DNM1 Zornitza Stark Marked gene: DNM1 as ready
Mendeliome v0.8262 DNM1 Zornitza Stark Gene: dnm1 has been classified as Green List (High Evidence).
Mendeliome v0.8262 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346
Mendeliome v0.8261 DNM1 Zornitza Stark Publications for gene: DNM1 were set to
Mendeliome v0.8260 DNM1 Zornitza Stark Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8259 DNM1 Zornitza Stark reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3936 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346
Intellectual disability syndromic and non-syndromic v0.3935 DNM1 Zornitza Stark Publications for gene: DNM1 were set to
Ciliopathies v1.4 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Ciliopathies v1.4 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3934 DNM1 Zornitza Stark Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1127 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346
Intellectual disability syndromic and non-syndromic v0.3933 DNM1 Zornitza Stark reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1126 DNM1 Zornitza Stark Publications for gene: DNM1 were set to
Genetic Epilepsy v0.1125 DNM1 Zornitza Stark Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Meckel syndrome 10, MIM# 614175
Renal Ciliopathies and Nephronophthisis v0.198 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Renal Ciliopathies and Nephronophthisis v0.197 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.196 B9D2 Zornitza Stark Classified gene: B9D2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.196 B9D2 Zornitza Stark Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.195 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21763481; Phenotypes: Meckel syndrome 10, MIM# 614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.4 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Ciliopathies v1.4 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.3 PDIA6 Zornitza Stark gene: PDIA6 was added
gene: PDIA6 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to AMBER
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Expert Review
Ciliopathies v1.2 GRK2 Zornitza Stark Marked gene: GRK2 as ready
Ciliopathies v1.2 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.2 GRK2 Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence)
Ciliopathies v1.2 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v1.0 Zornitza Stark promoted panel to version 1.0
Ciliopathies v1.1 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Genetic Epilepsy v0.1124 DNM1 Arina Puzriakova reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8259 GRK2 Zornitza Stark Marked gene: GRK2 as ready
Mendeliome v0.8259 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8259 GRK2 Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence)
Mendeliome v0.8259 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8258 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Marked gene: GRK2 as ready
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.107 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.106 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Skeletal Ciliopathies v0.105 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Skeletal Ciliopathies v0.105 WDR19 Zornitza Stark Gene: wdr19 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.105 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
Skeletal Ciliopathies v0.104 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Skeletal Ciliopathies v0.103 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.102 WDR19 Zornitza Stark Classified gene: WDR19 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.102 WDR19 Zornitza Stark Gene: wdr19 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.101 WDR19 Zornitza Stark reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: None; Publications: 22019273; Phenotypes: Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.0 Zornitza Stark promoted panel to version 1.0
Skeletal Ciliopathies v0.101 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Skeletal Ciliopathies v0.101 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.101 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Skeletal Ciliopathies v0.100 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Skeletal Ciliopathies v0.99 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.98 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.235 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Polydactyly v0.235 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Polydactyly v0.235 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Polydactyly v0.234 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Polydactyly v0.233 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8257 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Mendeliome v0.8257 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Mendeliome v0.8257 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Mendeliome v0.8256 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Mendeliome v0.8255 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8254 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.450 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Ciliopathies v0.450 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Ciliopathies v0.450 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Ciliopathies v0.449 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Ciliopathies v0.448 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.447 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.447 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Ciliopathies v0.447 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Ciliopathies v0.447 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633; Retinitis pigmentosa
Retinitis pigmentosa v0.96 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Retinitis pigmentosa v0.96 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.96 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR34 were set to 33124039
Phenotypes for gene: WDR34 were set to Retinitis pigmentosa
Review for gene: WDR34 was set to RED
Added comment: Single case report of association with RP. Gene-disease association well established for skeletal ciliopathy.
Sources: Literature
Skeletal Ciliopathies v0.98 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Skeletal Ciliopathies v0.98 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.98 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633
Skeletal Ciliopathies v0.97 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Skeletal Ciliopathies v0.96 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.95 WDR34 Zornitza Stark reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8254 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Mendeliome v0.8254 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Mendeliome v0.8254 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633; Retinitis pigmentosa
Mendeliome v0.8253 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Mendeliome v0.8252 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8251 WDR34 Zornitza Stark reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.446 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Ciliopathies v0.445 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.444 WDR34 Zornitza Stark reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8251 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Mendeliome v0.8251 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Mendeliome v0.8251 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Mendeliome v0.8250 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Mendeliome v0.8249 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8248 WDR19 Zornitza Stark reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33946315, 33875766, 33606107, 22019273, 23559409, 23683095, 32055034; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.444 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Ciliopathies v0.444 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Ciliopathies v0.444 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Ciliopathies v0.443 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Ciliopathies v0.442 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.441 WDR19 Zornitza Stark reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33946315, 33875766, 33606107, 22019273, 23559409, 23683095, 32055034; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.193 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.192 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Renal Ciliopathies and Nephronophthisis v0.192 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.191 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8248 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Mendeliome v0.8248 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Mendeliome v0.8248 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.190 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: 30851085, 27894351; Phenotypes: Meckel-Gruber syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8247 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Mendeliome v0.8246 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8245 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: 30851085, 27894351; Phenotypes: Meckel-Gruber syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.441 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Ciliopathies v0.441 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Ciliopathies v0.441 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Ciliopathies v0.440 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Ciliopathies v0.439 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3933 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Intellectual disability syndromic and non-syndromic v0.3933 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3933 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Intellectual disability syndromic and non-syndromic v0.3932 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Intellectual disability syndromic and non-syndromic v0.3931 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3930 TTC8 Zornitza Stark reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM# 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.233 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Polydactyly v0.233 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Polydactyly v0.233 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Polydactyly v0.232 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Mendeliome v0.8245 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Mendeliome v0.8245 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Mendeliome v0.8245 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Mendeliome v0.8244 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Mendeliome v0.8243 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8242 TTC8 Zornitza Stark reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM# 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.438 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Ciliopathies v0.438 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Ciliopathies v0.438 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Ciliopathies v0.437 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Ciliopathies v0.436 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.250 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Bardet-Biedl syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Additional findings_Paediatric v0.249 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Additional findings_Paediatric v0.248 TTC21B Zornitza Stark Classified gene: TTC21B as Green List (high evidence)
Additional findings_Paediatric v0.248 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.247 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.355 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Regression v0.355 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Regression v0.355 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Regression v0.354 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.353 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Regression v0.353 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Regression v0.352 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8242 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Mendeliome v0.8242 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Mendeliome v0.8242 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Mendeliome v0.8241 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Mendeliome v0.8240 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8239 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.435 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Ciliopathies v0.435 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Ciliopathies v0.435 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Ciliopathies v0.434 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Ciliopathies v0.433 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.432 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.175 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9 MIM#616629 to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Syndromic Retinopathy v0.174 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to 26487268
Syndromic Retinopathy v0.173 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Renal Ciliopathies and Nephronophthisis v0.189 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Renal Ciliopathies and Nephronophthisis v0.188 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.187 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.231 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Polydactyly v0.231 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Polydactyly v0.231 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Polydactyly v0.230 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Polydactyly v0.229 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8239 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Mendeliome v0.8239 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Mendeliome v0.8239 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Mendeliome v0.8238 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Mendeliome v0.8237 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8236 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Ciliopathies v0.431 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Ciliopathies v0.430 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.429 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.31 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Microcephaly v1.31 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Microcephaly v1.31 ATP9A Zornitza Stark Classified gene: ATP9A as Amber List (moderate evidence)
Microcephaly v1.31 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Microcephaly v1.30 ATP9A Zornitza Stark gene: ATP9A was added
gene: ATP9A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Phenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms
Review for gene: ATP9A was set to AMBER
Added comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3930 FTCD Elena Savva reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29178637, 30740726; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Classified gene: ATP9A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3930 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3929 ATP9A Zornitza Stark gene: ATP9A was added
gene: ATP9A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Phenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms
Review for gene: ATP9A was set to AMBER
Added comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3.
Sources: Literature
Mendeliome v0.8236 ATP9A Zornitza Stark Classified gene: ATP9A as Amber List (moderate evidence)
Mendeliome v0.8236 ATP9A Zornitza Stark Gene: atp9a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3928 ATP2C2 Zornitza Stark Marked gene: ATP2C2 as ready
Intellectual disability syndromic and non-syndromic v0.3928 ATP2C2 Zornitza Stark Gene: atp2c2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3928 ATP2C2 Zornitza Stark gene: ATP2C2 was added
gene: ATP2C2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ATP2C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2C2 were set to 33864365; 28440294
Phenotypes for gene: ATP2C2 were set to language impairment, HP:0002463
Review for gene: ATP2C2 was set to RED
Added comment: PMID: 33864365 - Martinelli et al 2021 - report a family with a missense variant NM_001286527.2:c.304G>A, p.(Val102Met) in ATP2C2 in a father and two siblings with specific language impairment. However two other affected siblings did not have this variant. This variant was also reported by Chen et al. They found that the variant had a higher frequency in language cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). They postulate that variant is not sufficient on its own to cause a disorder but is a susceptibility factor which increases the risk for language impairment. PMID: 28440294 - Chen et al 2017 - report 2 probands with severe learning impairment, and missense variants in ATP2C2 (NM_001286527: c.G304A:p.V102M and NM_001291454:exon21: c.C1936T:p.R646W).
Sources: Literature
Mendeliome v0.8235 ATP2C2 Zornitza Stark Classified gene: ATP2C2 as Red List (low evidence)
Mendeliome v0.8235 ATP2C2 Zornitza Stark Gene: atp2c2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.157 OBSCN Zornitza Stark Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Hypertrophic cardiomyopathy v0.156 OBSCN Zornitza Stark reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8234 OBSCN Zornitza Stark Tag refuted was removed from gene: OBSCN.
Tag disputed tag was added to gene: OBSCN.
Mendeliome v0.8234 OBSCN Zornitza Stark Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Mendeliome v0.8233 OBSCN Zornitza Stark Tag refuted tag was added to gene: OBSCN.
Deafness_IsolatedAndComplex v1.80 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to 23345450; 24211385
Deafness_IsolatedAndComplex v1.79 P2RX2 Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791800; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8233 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to 23345450; 24211385
Mendeliome v0.8232 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to 33729479; 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 29479578
Mendeliome v0.8231 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to 33729479; 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 2947957; 8
Mendeliome v0.8230 AP2S1 Zornitza Stark Publications for gene: AP2S1 were set to 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 29479578
Mendeliome v0.8229 ATP9A Arina Puzriakova gene: ATP9A was added
gene: ATP9A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Phenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms
Review for gene: ATP9A was set to AMBER
Added comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3.
Sources: Literature
Mendeliome v0.8229 ATP2C2 Eleanor Williams gene: ATP2C2 was added
gene: ATP2C2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP2C2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2C2 were set to 33864365; 28440294
Phenotypes for gene: ATP2C2 were set to language impairment, HP:0002463
Review for gene: ATP2C2 was set to RED
Added comment: PMID: 33864365 - Martinelli et al 2021 - report a family with a missense variant NM_001286527.2:c.304G>A, p.(Val102Met) in ATP2C2 in a father and two siblings with specific language impairment. However two other affected siblings did not have this variant. This variant was also reported by Chen et al. They found that the variant had a higher frequency in language cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). They postulate that variant is not sufficient on its own to cause a disorder but is a susceptibility factor which increases the risk for language impairment.

PMID: 28440294 - Chen et al 2017 - report 2 probands with severe learning impairment, and missense variants in ATP2C2 (NM_001286527: c.G304A:p.V102M and NM_001291454:exon21: c.C1936T:p.R646W).
Sources: Literature
Mendeliome v0.8229 OBSCN Eleanor Williams reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.8229 P2RX2 Eleanor Williams reviewed gene: P2RX2: Rating: ; Mode of pathogenicity: None; Publications: 33791800; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.8229 AP2S1 Eleanor Williams reviewed gene: AP2S1: Rating: ; Mode of pathogenicity: None; Publications: 33729479; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360 to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360
Intellectual disability syndromic and non-syndromic v0.3927 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360
Intellectual disability syndromic and non-syndromic v0.3926 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Intellectual disability syndromic and non-syndromic v0.3925 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3924 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 16415887, 17377820, 17160906, 19508969; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, COACH syndrome 1, MIM# 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.352 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Regression v0.352 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Regression v0.352 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Regression v0.351 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.350 TMEM67 Zornitza Stark Classified gene: TMEM67 as Red List (low evidence)
Regression v0.350 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Regression v0.349 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8229 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Mendeliome v0.8229 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Mendeliome v0.8229 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Mendeliome v0.8228 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Mendeliome v0.8227 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8226 TMEM67 Zornitza Stark Deleted their comment
Mendeliome v0.8226 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.; Changed publications: 16415887, 17377820, 17160906, 19508969; Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360
Ciliopathies v0.429 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Ciliopathies v0.429 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Ciliopathies v0.429 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Ciliopathies v0.428 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Ciliopathies v0.427 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.426 TMEM67 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.
Ciliopathies v0.426 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360
Mendeliome v0.8226 XDH Zornitza Stark Marked gene: XDH as ready
Mendeliome v0.8226 XDH Zornitza Stark Gene: xdh has been classified as Green List (High Evidence).
Mendeliome v0.8226 XDH Zornitza Stark Phenotypes for gene: XDH were changed from to Xanthinuria, type I (MIM#278300)
Mendeliome v0.8225 XDH Zornitza Stark Publications for gene: XDH were set to
Mendeliome v0.8224 XDH Zornitza Stark Mode of inheritance for gene: XDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.21 CBL Zornitza Stark Marked gene: CBL as ready
Cerebral vascular malformations v0.21 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.21 CBL Zornitza Stark Publications for gene: CBL were set to 25283271; 28343148
Cerebral vascular malformations v0.20 CBL Zornitza Stark Classified gene: CBL as Green List (high evidence)
Cerebral vascular malformations v0.20 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Mendeliome v0.8223 XDH Ain Roesley reviewed gene: XDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32071838; Phenotypes: Xanthinuria, type I (MIM#278300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebral vascular malformations v0.19 CBL Natasha Brown reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343148, 25283271, 28589114; Phenotypes: moyamoya, cerebral arteriopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.229 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Polydactyly v0.229 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Polydactyly v0.229 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Polydactyly v0.228 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Polydactyly v0.227 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.95 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Skeletal Ciliopathies v0.95 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.95 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Skeletal Ciliopathies v0.94 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Skeletal Ciliopathies v0.93 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.92 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8223 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Mendeliome v0.8223 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Mendeliome v0.8223 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Mendeliome v0.8222 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Mendeliome v0.8221 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8220 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Ciliopathies v0.425 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Ciliopathies v0.424 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.423 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.99 LOR Bryony Thompson Tag new gene name tag was added to gene: LOR.
Palmoplantar Keratoderma and Erythrokeratoderma v0.99 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.8220 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Mendeliome v0.8220 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Mendeliome v0.8220 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome
Mendeliome v0.8219 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Mendeliome v0.8218 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8217 TCTN3 Zornitza Stark changed review comment from: Rare cause of JBS, I can only find two families reported plus one with OFD. Ataxia specifically described in one of the JBS individuals.; to: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).
Mendeliome v0.8217 TCTN3 Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome
Ciliopathies v0.423 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Ciliopathies v0.423 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Ciliopathies v0.423 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome
Ciliopathies v0.422 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Ciliopathies v0.421 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.420 TCTN3 Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.173 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326
Syndromic Retinopathy v0.172 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Syndromic Retinopathy v0.171 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3924 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Intellectual disability syndromic and non-syndromic v0.3924 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3924 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Intellectual disability syndromic and non-syndromic v0.3923 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Intellectual disability syndromic and non-syndromic v0.3922 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3921 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.186 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Renal Ciliopathies and Nephronophthisis v0.185 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.184 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.227 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Polydactyly v0.227 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Red List (Low Evidence).
Polydactyly v0.227 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993
Polydactyly v0.226 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Polydactyly v0.225 SDCCAG8 Zornitza Stark Classified gene: SDCCAG8 as Red List (low evidence)
Polydactyly v0.225 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Red List (Low Evidence).
Polydactyly v0.224 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed rating: RED
Mendeliome v0.8217 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Mendeliome v0.8217 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Mendeliome v0.8217 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Mendeliome v0.8216 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Mendeliome v0.8215 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8214 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.9 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, MIM# 615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444
Bardet Biedl syndrome v1.8 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Ciliopathies v0.419 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Ciliopathies v0.418 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.417 SDCCAG8 Zornitza Stark changed review comment from: Well established gene-disease association. Polydactyly is typically ABSENT.; to: Well established gene-disease association with BBS. Polydactyly is typically ABSENT. Also reported with LCA and apparently isolated nephronophtisis.
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065; Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444
Mendeliome v0.8214 SBDS Zornitza Stark Marked gene: SBDS as ready
Mendeliome v0.8214 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Mendeliome v0.8214 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Mendeliome v0.8213 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8212 SBDS Zornitza Stark reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.417 SBDS Zornitza Stark Marked gene: SBDS as ready
Ciliopathies v0.417 SBDS Zornitza Stark Gene: sbds has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.417 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Ciliopathies v0.416 SBDS Zornitza Stark Publications for gene: SBDS were set to
Ciliopathies v0.415 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.414 SBDS Zornitza Stark Classified gene: SBDS as Amber List (moderate evidence)
Ciliopathies v0.414 SBDS Zornitza Stark Gene: sbds has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.413 SBDS Zornitza Stark reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: None; Publications: 22554078; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Deleted their comment
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Mendeliome v0.8212 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Mendeliome v0.8211 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Mendeliome v0.8210 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8209 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Mouse model.; Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Ciliopathies v0.412 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Ciliopathies v0.411 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.410 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis
Ciliopathies v0.410 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Ciliopathies v0.410 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Ciliopathies v0.410 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Ciliopathies v0.409 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.408 PKHD1 Zornitza Stark reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.408 Zornitza Stark removed gene:PKD2 from the panel
Ciliopathies v0.408 Zornitza Stark removed gene:PKD1 from the panel
Ciliopathies v0.407 PKD1 Zornitza Stark reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8209 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Mendeliome v0.8209 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Mendeliome v0.8209 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Mendeliome v0.8208 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Mendeliome v0.8207 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8206 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.407 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Ciliopathies v0.407 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Ciliopathies v0.407 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Ciliopathies v0.406 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Ciliopathies v0.405 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.404 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8206 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Mendeliome v0.8206 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Mendeliome v0.8206 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
Mendeliome v0.8205 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Mendeliome v0.8204 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8203 NPHP1 Zornitza Stark Tag SV/CNV tag was added to gene: NPHP1.
Mendeliome v0.8203 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285, 8852662, 9856524; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.404 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Ciliopathies v0.404 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Ciliopathies v0.404 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
Ciliopathies v0.403 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Ciliopathies v0.402 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.401 NPHP1 Zornitza Stark changed review comment from: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS.; to: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS. Deletions common.
Ciliopathies v0.401 NPHP1 Zornitza Stark edited their review of gene: NPHP1: Changed publications: 15138899, 32139166, 28347285, 8852662, 9856524; Changed phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900
Mendeliome v0.8203 TIE1 Zornitza Stark Marked gene: TIE1 as ready
Mendeliome v0.8203 TIE1 Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8203 TIE1 Zornitza Stark Classified gene: TIE1 as Amber List (moderate evidence)
Mendeliome v0.8203 TIE1 Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8202 TIE1 Zornitza Stark gene: TIE1 was added
gene: TIE1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIE1 were set to 32947856; 24764452
Phenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401
Review for gene: TIE1 was set to AMBER
Added comment: Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad.
Sources: Literature
Mendeliome v0.8201 KIF1B Paul De Fazio reviewed gene: KIF1B: Rating: RED; Mode of pathogenicity: None; Publications: 33710394; Phenotypes: Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3921 KIF1B Paul De Fazio gene: KIF1B was added
gene: KIF1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1B were set to 33710394
Phenotypes for gene: KIF1B were set to Hypotonia; coloboma; hypoplasia of the corpus callosum; severe neurodevelopmental delay
Review for gene: KIF1B was set to RED
gene: KIF1B was marked as current diagnostic
Added comment: Compound heterozygous missense variants reported in a woman with severe hypotonia, hypsarrhythmia, coloboma, hypoplasia of corpus callosum, severe neurodevelopmental delay.
Sources: Literature
Mendeliome v0.8201 NUF2 Dean Phelan gene: NUF2 was added
gene: NUF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUF2 were set to PMID: 33721060
Phenotypes for gene: NUF2 were set to microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect
Review for gene: NUF2 was set to RED
Added comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect.
Sources: Literature
Mendeliome v0.8201 ERGIC3 Elena Savva gene: ERGIC3 was added
gene: ERGIC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ERGIC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC3 were set to PMID: 33710394; 31585110
Phenotypes for gene: ERGIC3 were set to Intellectual disability
Review for gene: ERGIC3 was set to AMBER
Added comment: PMID: 33710394 - two homozygous sibs with mild ID, a novel canonical splice (c.717+1G>A). Absent in gnomAD, no splice studies. Classed as a VUS.

PMID: 31585110 - 1 hom (p.Gln233Argfs*10) in a male 8yo with Growth retardation, Microcephaly, Learning disability, Facial dysmorphism, Abnormal pigmentation.
Sources: Literature
Cataract v0.279 FYCO1 Teresa Zhao reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32355443; Phenotypes: Cataract 18 (MIN#610019) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8201 JPH3 Teresa Zhao reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33824468; Phenotypes: Huntington disease-like 2 (MIM#606438) AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3921 MYT1 Paul De Fazio changed review comment from: Missense variant reported de novo in a patient with mild ID. Patient also had a COL9A2 variant and skeletal features.
Sources: Literature; to: Missense variant reported de novo in a patient with mild ID reported in a cohort study, Patient also had a COL9A2 variant and skeletal features. Authors referred to it as an extended phenotype and dual diagnosis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3921 MYT1 Paul De Fazio gene: MYT1 was added
gene: MYT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 33710394
Phenotypes for gene: MYT1 were set to Intellectual disability
Review for gene: MYT1 was set to RED
gene: MYT1 was marked as current diagnostic
Added comment: Missense variant reported de novo in a patient with mild ID. Patient also had a COL9A2 variant and skeletal features.
Sources: Literature
Genetic Epilepsy v0.1124 ATP1A2 Ee Ming Wong reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.1124 ATP1A2 Ee Ming Wong Deleted their review
Genetic Epilepsy v0.1124 ATP1A2 Ee Ming Wong reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1124 ATP1A3 Ee Ming Wong changed review comment from: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity
Genetic Epilepsy v0.1124 ATP1A3 Ee Ming Wong changed review comment from: - six individuals with de novo missense variants
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)
- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity
Mendeliome v0.8201 HEATR5B Teresa Zhao gene: HEATR5B was added
gene: HEATR5B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR5B were set to PMID: 33824466
Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia
Review for gene: HEATR5B was set to AMBER
Added comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay.

Two homozygous splice variants were reported ((c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated
with reduced levels of HEATR5B protein.

Homozygous knockout mice were not viable.

*NOTE: gene (and alias) not found in OMIM
Sources: Literature
Genetic Epilepsy v0.1124 ATP1A3 Ee Ming Wong reviewed gene: ATP1A3: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3921 ZC3H14 Elena Savva reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21734151, 33710394; Phenotypes: Mental retardation, autosomal recessive 56 MIM#617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3921 SAMD9L Paul De Fazio edited their review of gene: SAMD9L: Changed publications: 33710394
Intellectual disability syndromic and non-syndromic v0.3921 SAMD9L Paul De Fazio gene: SAMD9L was added
gene: SAMD9L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SAMD9L were set to Intellectual disability
Review for gene: SAMD9L was set to RED
gene: SAMD9L was marked as current diagnostic
Added comment: Missense variant reported de novo in a patient with moderate ID, in a large cohort study. Author described it as a phenotype expansion as ataxia-pancytopenia not found in that patient.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Renal Ciliopathies and Nephronophthisis v0.183 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Renal Ciliopathies and Nephronophthisis v0.182 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.181 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.247 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Additional findings_Paediatric v0.246 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Additional findings_Paediatric v0.245 NEK8 Zornitza Stark Classified gene: NEK8 as Green List (high evidence)
Additional findings_Paediatric v0.245 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.244 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8201 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Mendeliome v0.8201 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Mendeliome v0.8201 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Mendeliome v0.8200 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Mendeliome v0.8199 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8198 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.401 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Ciliopathies v0.401 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Ciliopathies v0.401 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Ciliopathies v0.400 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Ciliopathies v0.399 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.398 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8198 MKKS Zornitza Stark Marked gene: MKKS as ready
Mendeliome v0.8198 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Mendeliome v0.8198 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa
Mendeliome v0.8197 MKKS Zornitza Stark Publications for gene: MKKS were set to
Mendeliome v0.8196 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8195 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661, 26900326, 10973251; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.398 MKKS Zornitza Stark Marked gene: MKKS as ready
Ciliopathies v0.398 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Ciliopathies v0.398 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa
Ciliopathies v0.397 MKKS Zornitza Stark Publications for gene: MKKS were set to
Ciliopathies v0.396 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.395 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661, 26900326; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis) to Leber congenital amaurosis; Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Syndromic Retinopathy v0.170 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Syndromic Retinopathy v0.169 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Renal Ciliopathies and Nephronophthisis v0.180 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Renal Ciliopathies and Nephronophthisis v0.179 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.178 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8195 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Mendeliome v0.8195 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Mendeliome v0.8195 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Mendeliome v0.8194 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Mendeliome v0.8193 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8192 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.395 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5, MIM# 609254 to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Ciliopathies v0.394 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Ciliopathies v0.394 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Ciliopathies v0.394 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254
Ciliopathies v0.393 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Ciliopathies v0.392 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.391 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.391 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Ciliopathies v0.391 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Ciliopathies v0.391 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Ciliopathies v0.390 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.389 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Ciliopathies v0.389 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Ciliopathies v0.92 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Skeletal Ciliopathies v0.92 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.92 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Skeletal Ciliopathies v0.91 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Skeletal Ciliopathies v0.90 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.89 IFT80 Zornitza Stark reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8192 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Mendeliome v0.8192 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Mendeliome v0.8192 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Mendeliome v0.8191 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Mendeliome v0.8190 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8189 IFT80 Zornitza Stark commented on gene: IFT80: 5 unrelated families reported.
Mendeliome v0.8189 IFT80 Zornitza Stark reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.389 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Ciliopathies v0.388 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Ciliopathies v0.388 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Ciliopathies v0.388 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263
Ciliopathies v0.387 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Ciliopathies v0.386 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.385 IFT80 Zornitza Stark reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8189 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Mendeliome v0.8189 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Mendeliome v0.8189 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Mendeliome v0.8188 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Mendeliome v0.8187 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8186 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986; Phenotypes: Bardet-Biedl syndrome 17 (MIM#615994); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.385 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Ciliopathies v0.385 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Ciliopathies v0.385 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Ciliopathies v0.384 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Ciliopathies v0.383 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.382 LBR Zornitza Stark Marked gene: LBR as ready
Ciliopathies v0.382 LBR Zornitza Stark Gene: lbr has been classified as Green List (High Evidence).
Ciliopathies v0.382 LBR Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140
Ciliopathies v0.381 LBR Zornitza Stark Publications for gene: LBR were set to
Ciliopathies v0.380 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8186 TTC26 Zornitza Stark changed review comment from: Seven families and functional data including zebrafish model.
Sources: Literature; to: Nine families and functional data including zebrafish model.
Sources: Literature
Mendeliome v0.8186 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model.
Sources: Literature; to: Seven families and functional data including zebrafish model.
Sources: Literature
Cholestasis v0.197 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature; to: 7 families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature
Cholestasis v0.197 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Cholestasis v0.197 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.379 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model.
Sources: Literature; to: 9 families and functional data including zebrafish model.
Sources: Literature
Cholestasis v0.197 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Cholestasis v0.197 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Cholestasis v0.196 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature
Mendeliome v0.8186 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Mendeliome v0.8186 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Mendeliome v0.8186 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Mendeliome v0.8186 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Mendeliome v0.8185 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model.
Sources: Literature
Ciliopathies v0.379 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Ciliopathies v0.379 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.379 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Ciliopathies v0.379 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.378 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model.
Sources: Literature
Ciliopathies v0.377 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Ciliopathies v0.377 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Ciliopathies v0.377 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120
Ciliopathies v0.376 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Ciliopathies v0.375 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.374 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Ciliopathies v0.374 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Ciliopathies v0.374 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from to Orofaciodigital syndrome XV 617127; Joubert syndrome
Ciliopathies v0.373 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to
Ciliopathies v0.372 KIAA0753 Zornitza Stark Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.371 KIAA0753 Zornitza Stark Deleted their comment
Ciliopathies v0.371 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Ciliopathies v0.371 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Ciliopathies v0.371 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23 616490; Short-rib thoracic dysplasia 14 with polydactyly 616546
Ciliopathies v0.370 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Ciliopathies v0.369 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.369 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.368 KIAA0586 Zornitza Stark Tag new gene name tag was added to gene: KIAA0586.
Polydactyly v0.224 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Polydactyly v0.224 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Polydactyly v0.224 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Polydactyly v0.223 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Polydactyly v0.222 IFT52 Zornitza Stark reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.89 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Skeletal Ciliopathies v0.89 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.89 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Skeletal Ciliopathies v0.88 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Skeletal Ciliopathies v0.87 IFT52 Zornitza Stark Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.86 IFT52 Zornitza Stark reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.368 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Ciliopathies v0.368 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Ciliopathies v0.368 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Ciliopathies v0.367 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Ciliopathies v0.366 IFT52 Zornitza Stark Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT52 Zornitza Stark reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.86 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Skeletal Ciliopathies v0.86 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.86 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099
Skeletal Ciliopathies v0.85 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Skeletal Ciliopathies v0.84 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.83 IFT43 Zornitza Stark reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 21378380, 29896747; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099, Retinitis pigmentosa 81, MIM# 617871
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Ciliopathies v0.365 IFT43 Zornitza Stark Deleted their comment
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Added comment: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; Changed publications: 28400947, 21378380, 29896747; Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099
Mendeliome v0.8184 IFT43 Zornitza Stark Publications for gene: IFT43 were set to 28400947; 28973684; 21378380
Mendeliome v0.8183 IFT43 Zornitza Stark changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.
Mendeliome v0.8183 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Ciliopathies v0.365 IFT43 Zornitza Stark changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Mendeliome v0.8183 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Mendeliome v0.8183 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Mendeliome v0.8183 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099
Mendeliome v0.8182 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Mendeliome v0.8181 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8180 IFT43 Zornitza Stark reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Ciliopathies v0.365 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Ciliopathies v0.365 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099
Ciliopathies v0.364 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Ciliopathies v0.363 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.362 IFT43 Zornitza Stark reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.95 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Retinitis pigmentosa v0.95 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.95 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Retinitis pigmentosa 80 to Retinitis pigmentosa 80, MIM# 617781
Retinitis pigmentosa v0.94 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Retinitis pigmentosa v0.93 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216056, 26968735; Phenotypes: Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.222 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Polydactyly v0.222 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Polydactyly v0.222 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Polydactyly v0.221 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Polydactyly v0.220 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8180 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Mendeliome v0.8180 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Mendeliome v0.8180 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781
Mendeliome v0.8179 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Mendeliome v0.8178 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8177 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.83 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Skeletal Ciliopathies v0.83 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.83 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Skeletal Ciliopathies v0.82 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Skeletal Ciliopathies v0.81 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.362 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Ciliopathies v0.362 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Ciliopathies v0.362 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v0.361 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Ciliopathies v0.360 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.359 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.80 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Marked gene: KDM3B as ready
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Classified gene: KDM3B as Green List (high evidence)
Deafness_IsolatedAndComplex v1.79 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.78 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; short stature; deafness
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B (inherited variants segregated with phenotype). 4 individuals had deafness.
Sources: Expert Review
Hair disorders v0.46 SNRPE Zornitza Stark Classified gene: SNRPE as Green List (high evidence)
Hair disorders v0.46 SNRPE Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence).
Hair disorders v0.45 SNRPE Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3921 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Intellectual disability syndromic and non-syndromic v0.3921 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3921 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Developmental and epileptic encephalopathy 8, MIM# 300607
Intellectual disability syndromic and non-syndromic v0.3920 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Intellectual disability syndromic and non-syndromic v0.3919 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3918 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718, 33600053, 32939676; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1124 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.8177 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.8176 SNORA31 Zornitza Stark Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Mendeliome v0.8175 SNORA31 Zornitza Stark edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Susceptibility to Viral Infections v0.76 SNORA31 Zornitza Stark Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Susceptibility to Viral Infections v0.75 SNORA31 Zornitza Stark edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Skeletal Ciliopathies v0.80 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Skeletal Ciliopathies v0.80 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.80 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Skeletal Ciliopathies v0.79 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Skeletal Ciliopathies v0.78 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.77 IFT172 Zornitza Stark reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140113; Phenotypes: Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.359 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Ciliopathies v0.359 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Ciliopathies v0.359 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v0.358 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Ciliopathies v0.357 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.356 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO.
More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.
Ciliopathies v0.356 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113, 25168386; Changed phenotypes: Bardet-Biedl syndrome, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v0.356 EVC Zornitza Stark Marked gene: EVC as ready
Ciliopathies v0.356 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Ciliopathies v0.356 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500
Ciliopathies v0.355 EVC Zornitza Stark Publications for gene: EVC were set to
Ciliopathies v0.354 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.220 DYNC2LI1 Zornitza Stark Marked gene: DYNC2LI1 as ready
Polydactyly v0.220 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Polydactyly v0.220 DYNC2LI1 Zornitza Stark Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Polydactyly v0.219 DYNC2LI1 Zornitza Stark Publications for gene: DYNC2LI1 were set to
Polydactyly v0.218 DYNC2LI1 Zornitza Stark reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Marked gene: DYNC2LI1 as ready
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Ciliopathies v0.352 DYNC2LI1 Zornitza Stark Publications for gene: DYNC2LI1 were set to
Ciliopathies v0.351 DYNC2LI1 Zornitza Stark Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.218 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Polydactyly v0.218 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Polydactyly v0.218 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Polydactyly v0.217 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Polydactyly v0.216 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.77 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Skeletal Ciliopathies v0.77 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.77 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Skeletal Ciliopathies v0.76 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Skeletal Ciliopathies v0.75 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.74 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Mendeliome v0.8175 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Mendeliome v0.8175 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Mendeliome v0.8175 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Mendeliome v0.8174 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Mendeliome v0.8173 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8172 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Ciliopathies v0.349 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Ciliopathies v0.348 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.347 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127
Ciliopathies v0.347 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Renal Ciliopathies and Nephronophthisis v0.177 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Renal Ciliopathies and Nephronophthisis v0.176 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.175 DDX59 Zornitza Stark Classified gene: DDX59 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.175 DDX59 Zornitza Stark Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.174 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3918 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.216 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Polydactyly v0.216 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Polydactyly v0.216 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Polydactyly v0.215 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Polydactyly v0.214 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8172 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Mendeliome v0.8172 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Mendeliome v0.8172 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Mendeliome v0.8171 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Mendeliome v0.8170 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8169 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.347 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Ciliopathies v0.347 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Ciliopathies v0.347 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Ciliopathies v0.346 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Ciliopathies v0.345 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Classified gene: CEP83 as Green List (high evidence)
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.243 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706; 33938610
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Review for gene: CEP83 was set to GREEN
Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.

PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.
Sources: Expert Review
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Classified gene: CEP83 as Green List (high evidence)
Retinitis pigmentosa v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.92 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706; 33938610
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Review for gene: CEP83 was set to GREEN
Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.

PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3917 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Intellectual disability syndromic and non-syndromic v0.3917 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3917 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Intellectual disability syndromic and non-syndromic v0.3916 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Intellectual disability syndromic and non-syndromic v0.3915 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3914 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Renal Ciliopathies and Nephronophthisis v0.173 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Renal Ciliopathies and Nephronophthisis v0.172 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.171 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8169 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Mendeliome v0.8169 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Mendeliome v0.8169 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Mendeliome v0.8168 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Mendeliome v0.8167 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8166 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.93 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Hydrocephalus_Ventriculomegaly v0.93 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.93 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID
Hydrocephalus_Ventriculomegaly v0.92 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Hydrocephalus_Ventriculomegaly v0.91 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.90 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Hydrocephalus, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.344 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Ciliopathies v0.344 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Ciliopathies v0.344 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Ciliopathies v0.343 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Ciliopathies v0.342 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.341 CEP83 Zornitza Stark edited their review of gene: CEP83: Changed phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID
Ciliopathies v0.341 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.29 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Microcephaly v1.29 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Microcephaly v1.29 KMT2E Zornitza Stark Classified gene: KMT2E as Green List (high evidence)
Microcephaly v1.29 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Craniosynostosis v1.22 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Craniosynostosis v1.22 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Craniosynostosis v1.21 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Craniosynostosis v1.21 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Craniosynostosis v1.20 RNU12 Bryony Thompson Marked gene: RNU12 as ready
Craniosynostosis v1.20 RNU12 Bryony Thompson Gene: rnu12 has been classified as Red List (Low Evidence).
Craniosynostosis v1.20 RNU12 Bryony Thompson gene: RNU12 was added
gene: RNU12 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations
Review for gene: RNU12 was set to GREEN
Added comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Craniosynostosis is a major feature of the condition.
Sources: Literature
Mendeliome v0.8166 RNU12 Bryony Thompson Marked gene: RNU12 as ready
Mendeliome v0.8166 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Mendeliome v0.8166 RNU12 Bryony Thompson Classified gene: RNU12 as Green List (high evidence)
Mendeliome v0.8166 RNU12 Bryony Thompson Gene: rnu12 has been classified as Green List (High Evidence).
Mendeliome v0.8165 RNU12 Bryony Thompson gene: RNU12 was added
gene: RNU12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356; 27863452
Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations
Review for gene: RNU12 was set to GREEN
Added comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Also, limited evidence for an association with cerebellar ataxia with a single large consanguineous family reported with a homozygous variant.
Sources: Literature
Microcephaly v1.28 KMT2E Elena Savva gene: KMT2E was added
gene: KMT2E was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2E were set to PMID: 31079897; 33111303
Phenotypes for gene: KMT2E were set to O'Donnell-Luria-Rodan syndrome MIM#618512
Mode of pathogenicity for gene: KMT2E was set to Other
Review for gene: KMT2E was set to GREEN
Added comment: PMID: 31079897: microcephaly was reported in 2/3 patients with de novo missense variants

PMID: 33111303: also reports patients with missense variants and microcephaly

Potentially alternative mechanism due to the more severe presentation
Sources: Literature
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Marked gene: FHOD3 as ready
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Gene: fhod3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.96 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Cardiomyopathy_Paediatric v0.95 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to
Cardiomyopathy_Paediatric v0.94 FHOD3 Zornitza Stark Mode of inheritance for gene: FHOD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.93 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8164 FHOD3 Zornitza Stark Marked gene: FHOD3 as ready
Mendeliome v0.8164 FHOD3 Zornitza Stark Gene: fhod3 has been classified as Green List (High Evidence).
Mendeliome v0.8164 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Mendeliome v0.8163 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to
Mendeliome v0.8162 FHOD3 Zornitza Stark Mode of inheritance for gene: FHOD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8161 FHOD3 Zornitza Stark Tag SV/CNV tag was added to gene: FHOD3.
Mendeliome v0.8161 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32335906, 31742804, 30442288; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.156 FHOD3 Zornitza Stark Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Hypertrophic cardiomyopathy v0.155 FHOD3 Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Marked gene: PPP1R21 as ready
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Leukodystrophy v0.224 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Leukodystrophy v0.223 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Leukodystrophy - paediatric. Sources: Expert Review
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571
Phenotypes for gene: PPP1R21 were set to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert Review
Mendeliome v0.8161 PPP1R21 Zornitza Stark Phenotypes for gene: PPP1R21 were changed from Hypotonia; intellectual disability; white matter abnormalities to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities
Mendeliome v0.8160 PPP1R21 Zornitza Stark edited their review of gene: PPP1R21: Changed phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383, Hypotonia, intellectual disability, white matter abnormalities
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Marked gene: KCNJ16 as ready
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Classified gene: KCNJ16 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.77 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.76 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness
Review for gene: KCNJ16 was set to GREEN
Added comment: 8 unrelated families reported.
Sources: Literature
Mendeliome v0.8160 KCNJ16 Zornitza Stark Marked gene: KCNJ16 as ready
Mendeliome v0.8160 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Mendeliome v0.8160 KCNJ16 Zornitza Stark Classified gene: KCNJ16 as Green List (high evidence)
Mendeliome v0.8160 KCNJ16 Zornitza Stark Gene: kcnj16 has been classified as Green List (High Evidence).
Mendeliome v0.8159 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness
Review for gene: KCNJ16 was set to GREEN
Added comment: 8 unrelated families reported.
Sources: Literature
Mendeliome v0.8158 KLHL7 Zornitza Stark Marked gene: KLHL7 as ready
Mendeliome v0.8158 KLHL7 Zornitza Stark Gene: klhl7 has been classified as Green List (High Evidence).
Mendeliome v0.8158 KLHL7 Zornitza Stark Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome (MIM#617055); Retinitis pigmentosa 42 (MIM#612943)
Mendeliome v0.8157 KLHL7 Zornitza Stark Publications for gene: KLHL7 were set to
Mendeliome v0.8156 KLHL7 Zornitza Stark Mode of inheritance for gene: KLHL7 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.26 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Hypophosphataemia or rickets v0.25 SLC34A3 Zornitza Stark Publications for gene: SLC34A3 were set to
Hypophosphataemia or rickets v0.24 SLC34A3 Zornitza Stark Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.23 SLC34A3 Zornitza Stark reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32524022; Phenotypes: Hypophosphataemic rickets with hypercalciuria, (MIM#241530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8155 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Mendeliome v0.8155 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Mendeliome v0.8155 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from to Hypophosphatemic rickets with hypercalciuria, (MIM#241530)
Mendeliome v0.8154 SLC34A3 Zornitza Stark Publications for gene: SLC34A3 were set to
Mendeliome v0.8153 SLC34A3 Zornitza Stark Mode of inheritance for gene: SLC34A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8152 TNC Zornitza Stark Marked gene: TNC as ready
Mendeliome v0.8152 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8152 TNC Zornitza Stark Phenotypes for gene: TNC were changed from to Deafness, autosomal dominant 56, MIM# 615629
Mendeliome v0.8151 TNC Zornitza Stark Publications for gene: TNC were set to
Mendeliome v0.8150 TNC Zornitza Stark Mode of inheritance for gene: TNC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8149 TNC Zornitza Stark Classified gene: TNC as Amber List (moderate evidence)
Mendeliome v0.8149 TNC Zornitza Stark Gene: tnc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8148 TNC Zornitza Stark reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 23936043, 34093110, 33763067; Phenotypes: Deafness, autosomal dominant 56, MIM# 615629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8148 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Mendeliome v0.8148 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Mendeliome v0.8148 RIPK4 Zornitza Stark Phenotypes for gene: RIPK4 were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Mendeliome v0.8147 RIPK4 Zornitza Stark Publications for gene: RIPK4 were set to
Mendeliome v0.8146 RIPK4 Zornitza Stark Mode of inheritance for gene: RIPK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8145 RIPK4 Zornitza Stark reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940926, 22197489, 22197488; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.133 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Clefting disorders v0.133 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Mendeliome v0.8145 KLHL7 Ain Roesley reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953236, 30300710, 31856884; Phenotypes: PERCHING syndrome (MIM#617055), Retinitis pigmentosa 42 (MIM#612943); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.8145 SLC34A3 Ain Roesley reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32524022; Phenotypes: Hypophosphatemic rickets with hypercalciuria, (MIM#241530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.113 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Overgrowth v1.1 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Brain Calcification v1.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Clefting disorders v0.133 RIPK4 Chirag Patel Classified gene: RIPK4 as Green List (high evidence)
Clefting disorders v0.133 RIPK4 Chirag Patel Gene: ripk4 has been classified as Green List (High Evidence).
Clefting disorders v0.132 RIPK4 Chirag Patel Classified gene: RIPK4 as Green List (high evidence)
Clefting disorders v0.132 RIPK4 Chirag Patel Gene: ripk4 has been classified as Green List (High Evidence).
Clefting disorders v0.131 RIPK4 Chirag Patel gene: RIPK4 was added
gene: RIPK4 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK4 were set to PMID: 28940926; 22197489; 22197488
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650
Review for gene: RIPK4 was set to GREEN
gene: RIPK4 was marked as current diagnostic
Added comment: Clefting well associated with this syndrome
Sources: Literature
Mendeliome v0.8145 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Mendeliome v0.8145 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Mendeliome v0.8145 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Mendeliome v0.8144 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Mendeliome v0.8143 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8142 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.341 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Ciliopathies v0.341 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Ciliopathies v0.341 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Ciliopathies v0.340 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Ciliopathies v0.339 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.338 CEP290 Zornitza Stark changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies.
Ciliopathies v0.338 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Changed phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189
Polydactyly v0.214 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Polydactyly v0.214 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Polydactyly v0.214 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Polydactyly v0.213 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Polydactyly v0.212 CEP164 Zornitza Stark Deleted their comment
Polydactyly v0.212 CEP164 Zornitza Stark edited their review of gene: CEP164: Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.; Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Renal Ciliopathies and Nephronophthisis v0.170 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Renal Ciliopathies and Nephronophthisis v0.169 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.168 CEP164 Zornitza Stark reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3914 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3913 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007
Phenotypes for gene: CEP164 were set to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Review for gene: CEP164 was set to GREEN
Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert Review
Mendeliome v0.8142 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Mendeliome v0.8142 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Mendeliome v0.8142 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Mendeliome v0.8141 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Mendeliome v0.8140 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.338 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Ciliopathies v0.338 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Mendeliome v0.8139 CEP164 Zornitza Stark reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.8 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from Nephronophthisis 15, MIM# 614845 to Bardet-Biedl syndrome
Bardet Biedl syndrome v1.7 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Bardet Biedl syndrome v1.6 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Bardet Biedl syndrome v1.6 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Ciliopathies v0.338 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Bardet Biedl syndrome v1.5 CEP164 Zornitza Stark changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert list
Bardet Biedl syndrome v1.5 CEP164 Zornitza Stark edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome
Ciliopathies v0.337 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Ciliopathies v0.336 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP164 Zornitza Stark changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert list
Ciliopathies v0.335 CEP164 Zornitza Stark edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome
Skeletal Ciliopathies v0.74 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Skeletal Ciliopathies v0.74 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.74 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Skeletal Ciliopathies v0.73 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Skeletal Ciliopathies v0.72 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Ciliopathies v0.335 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Polydactyly v0.212 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Polydactyly v0.212 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Polydactyly v0.212 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Skeletal Ciliopathies v0.71 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.211 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Polydactyly v0.210 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8139 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Mendeliome v0.8139 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Mendeliome v0.8139 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Mendeliome v0.8138 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Mendeliome v0.8137 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Mendeliome v0.8136 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208211, 33486889, 29847808, 25361962, 27208211; Phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Ciliopathies v0.334 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Ciliopathies v0.333 CEP120 Zornitza Stark changed review comment from: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data.
Sources: Expert list; to: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data.
Sources: Expert list
Ciliopathies v0.333 CEP120 Zornitza Stark edited their review of gene: CEP120: Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Ciliopathies v0.333 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3912 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Intellectual disability syndromic and non-syndromic v0.3911 CEP104 Zornitza Stark edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770
Joubert syndrome and other neurological ciliopathies v1.8 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Joubert syndrome and other neurological ciliopathies v1.7 CEP104 Zornitza Stark edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770
Mendeliome v0.8136 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Mendeliome v0.8136 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Mendeliome v0.8136 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Mendeliome v0.8135 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Mendeliome v0.8134 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8133 CEP104 Zornitza Stark reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 26477546; Phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.332 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Ciliopathies v0.331 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Ciliopathies v0.331 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Ciliopathies v0.331 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781
Ciliopathies v0.330 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Ciliopathies v0.329 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3911 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Intellectual disability syndromic and non-syndromic v0.3910 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Intellectual disability syndromic and non-syndromic v0.3909 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3908 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.349 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Regression v0.349 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Regression v0.349 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Regression v0.348 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.347 C5orf42 Zornitza Stark Classified gene: C5orf42 as Red List (low evidence)
Regression v0.347 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Regression v0.346 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.210 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Polydactyly v0.210 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Polydactyly v0.210 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Polydactyly v0.209 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Polydactyly v0.209 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Polydactyly v0.208 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8133 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Joubert syndrome and other neurological ciliopathies v1.7 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Joubert syndrome and other neurological ciliopathies v1.7 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, MIM# 614615 to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Joubert syndrome and other neurological ciliopathies v1.6 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to 22425360
Joubert syndrome and other neurological ciliopathies v1.5 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.
Joubert syndrome and other neurological ciliopathies v1.5 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8133 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Mendeliome v0.8133 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Mendeliome v0.8133 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8132 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Mendeliome v0.8131 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8130 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.

New gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 families reported with each association.

New gene name is CPLANE1.
Mendeliome v0.8130 C5orf42 Zornitza Stark Deleted their comment
Ciliopathies v0.328 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.

New gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.
Ciliopathies v0.328 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8130 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed phenotypes: Joubert syndrome 17, MIM# 614615, Orofaciodigital syndrome VI, MIM# 277170
Mendeliome v0.8130 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751
Mendeliome v0.8130 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Added comment: Well established gene-disease association.

New gene name is CPLANE1.; Changed publications: 22425360
Ciliopathies v0.328 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

New gene name is CPLANE1.
Ciliopathies v0.328 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Ciliopathies v0.328 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Ciliopathies v0.328 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Ciliopathies v0.328 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615
Ciliopathies v0.327 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Ciliopathies v0.326 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark changed review comment from: 7 families also reported with isolated retinal dystrophy.; to: 7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

New HGNC approved name is CFAP410.
Mendeliome v0.8130 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Mendeliome v0.8130 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Ciliopathies v0.325 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Ciliopathies v0.325 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Ciliopathies v0.325 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Ciliopathies v0.325 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.24 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to 30679166
Cone-rod Dystrophy v0.23 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26294103, 23105016, 27548899; Phenotypes: Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.71 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271
Skeletal Ciliopathies v0.70 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Skeletal Ciliopathies v0.69 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.68 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8130 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Mendeliome v0.8130 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Mendeliome v0.8130 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547
Mendeliome v0.8129 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Mendeliome v0.8128 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8127 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394, 26294103, 23105016, 27548899; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271, Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.325 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547
Ciliopathies v0.324 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Ciliopathies v0.323 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.322 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394, 26294103, 23105016, 27548899; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271, Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Renal Ciliopathies and Nephronophthisis v0.167 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Renal Ciliopathies and Nephronophthisis v0.166 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.165 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3908 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Intellectual disability syndromic and non-syndromic v0.3907 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Intellectual disability syndromic and non-syndromic v0.3907 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3907 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Intellectual disability syndromic and non-syndromic v0.3906 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Intellectual disability syndromic and non-syndromic v0.3905 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3904 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.208 BBS9 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, polydactyly is a key feature.
Polydactyly v0.208 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Polydactyly v0.208 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Polydactyly v0.208 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Polydactyly v0.207 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Polydactyly v0.206 BBS9 Zornitza Stark edited their review of gene: BBS9: Changed phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437
Mendeliome v0.8127 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Mendeliome v0.8127 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Mendeliome v0.8127 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Mendeliome v0.8126 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Mendeliome v0.8125 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8124 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.5 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Ciliopathies v0.321 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Ciliopathies v0.321 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Ciliopathies v0.321 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Ciliopathies v0.320 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Ciliopathies v0.319 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Renal Ciliopathies and Nephronophthisis v0.164 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Renal Ciliopathies and Nephronophthisis v0.163 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.162 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3904 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Intellectual disability syndromic and non-syndromic v0.3904 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3904 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Intellectual disability syndromic and non-syndromic v0.3903 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Intellectual disability syndromic and non-syndromic v0.3902 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3901 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.206 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Polydactyly v0.206 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Polydactyly v0.206 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Polydactyly v0.205 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Mendeliome v0.8124 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Mendeliome v0.8124 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Mendeliome v0.8124 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Mendeliome v0.8123 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Mendeliome v0.8122 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8121 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.4 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Ciliopathies v0.318 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Ciliopathies v0.318 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Ciliopathies v0.318 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Ciliopathies v0.317 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Ciliopathies v0.316 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.315 BBS7 Zornitza Stark edited their review of gene: BBS7: Changed phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435
Polydactyly v0.204 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Polydactyly v0.204 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Polydactyly v0.204 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Polydactyly v0.203 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Polydactyly v0.202 BBS5 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, polydactyly is a feature.
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, renal abnormalities are a feature.
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Renal Ciliopathies and Nephronophthisis v0.161 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Renal Ciliopathies and Nephronophthisis v0.160 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.159 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3901 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Intellectual disability syndromic and non-syndromic v0.3901 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3901 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Intellectual disability syndromic and non-syndromic v0.3900 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Intellectual disability syndromic and non-syndromic v0.3899 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3898 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8121 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Mendeliome v0.8121 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Mendeliome v0.8121 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Mendeliome v0.8120 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Mendeliome v0.8119 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8118 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.3 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, MIM#615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Bardet Biedl syndrome v1.2 BBS5 Zornitza Stark edited their review of gene: BBS5: Changed phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434
Ciliopathies v0.315 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Ciliopathies v0.315 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Ciliopathies v0.315 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Ciliopathies v0.314 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Ciliopathies v0.313 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.312 BBS5 Zornitza Stark edited their review of gene: BBS5: Changed phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434
Intellectual disability syndromic and non-syndromic v0.3898 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Intellectual disability syndromic and non-syndromic v0.3898 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3898 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Intellectual disability syndromic and non-syndromic v0.3897 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Intellectual disability syndromic and non-syndromic v0.3896 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3895 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Renal Ciliopathies and Nephronophthisis v0.158 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Renal Ciliopathies and Nephronophthisis v0.157 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.156 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.202 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Polydactyly v0.202 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Polydactyly v0.202 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Polydactyly v0.201 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Mendeliome v0.8118 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Mendeliome v0.8118 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Mendeliome v0.8118 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Mendeliome v0.8117 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Mendeliome v0.8116 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8115 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v1.2 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, MIM#615982 to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Ciliopathies v0.312 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Ciliopathies v0.312 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Ciliopathies v0.312 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Ciliopathies v0.311 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Ciliopathies v0.310 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.309 BBS4 Zornitza Stark edited their review of gene: BBS4: Changed phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433
Ciliopathies v0.309 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Ciliopathies v0.309 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Ciliopathies v0.309 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562
Ciliopathies v0.308 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Ciliopathies v0.307 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.306 BBS2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Limited number of families also reported with isolated RP.
Ciliopathies v0.306 BBS2 Zornitza Stark edited their review of gene: BBS2: Changed publications: 11567139, 16823392, 28143435, 31960602, 25541840; Changed phenotypes: Bardet-Biedl syndrome 2, MIM# 615981, Retinitis pigmentosa 74, MIM# 616562
Ciliopathies v0.306 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Ciliopathies v0.306 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Ciliopathies v0.306 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Ciliopathies v0.305 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Ciliopathies v0.304 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.303 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Ciliopathies v0.303 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Ciliopathies v0.303 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Ciliopathies v0.303 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Ciliopathies v0.303 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Ciliopathies v0.302 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Ciliopathies v0.301 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.300 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Ciliopathies v0.300 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Ciliopathies v0.300 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Ciliopathies v0.299 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Ciliopathies v0.298 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.297 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Ciliopathies v0.297 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Ciliopathies v0.297 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM# 614175; Meckel syndrome 10, MIM# 614175
Ciliopathies v0.296 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Ciliopathies v0.295 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Renal Ciliopathies and Nephronophthisis v0.155 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Renal Ciliopathies and Nephronophthisis v0.154 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.153 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3895 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Intellectual disability syndromic and non-syndromic v0.3895 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3895 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Intellectual disability syndromic and non-syndromic v0.3894 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Intellectual disability syndromic and non-syndromic v0.3893 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3892 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported and functional data, ID is a key feature.
Intellectual disability syndromic and non-syndromic v0.3892 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.199 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Polydactyly v0.198 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Polydactyly v0.197 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8115 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Mendeliome v0.8115 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Mendeliome v0.8115 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Mendeliome v0.8114 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Mendeliome v0.8113 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.293 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575 to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Mendeliome v0.8112 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM# 613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.293 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Ciliopathies v0.292 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Ciliopathies v0.291 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.290 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported with BBS and functional data. Some families reported with isolated RP.
Ciliopathies v0.290 ARL6 Zornitza Stark edited their review of gene: ARL6: Changed publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Changed phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM# 613575
Proteinuria v0.169 SPRY2 Bryony Thompson Marked gene: SPRY2 as ready
Proteinuria v0.169 SPRY2 Bryony Thompson Gene: spry2 has been classified as Red List (Low Evidence).
Proteinuria v0.169 SPRY2 Bryony Thompson changed review comment from: A single family reported with expression analyses conducted in some patient cells.
Sources: Literature; to: A single family reported with expression analyses conducted in some patient cells. No variants identified in 70 apparently sporadic cases with IgAN.
Sources: Literature
Proteinuria v0.169 SPRY2 Bryony Thompson gene: SPRY2 was added
gene: SPRY2 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: SPRY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRY2 were set to 25782674
Phenotypes for gene: SPRY2 were set to {?IgA nephropathy, susceptibility to, 3} MIM#616818
Review for gene: SPRY2 was set to RED
Added comment: A single family reported with expression analyses conducted in some patient cells.
Sources: Literature
Mendeliome v0.8112 IL37 Zornitza Stark Phenotypes for gene: IL37 were changed from Infantile inflammatory bowel disease to Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Mendeliome v0.8111 IL37 Zornitza Stark edited their review of gene: IL37: Changed phenotypes: Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Inflammatory bowel disease v0.58 IL37 Zornitza Stark Phenotypes for gene: IL37 were changed from Infantile inflammatory bowel disease to Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Inflammatory bowel disease v0.57 IL37 Zornitza Stark edited their review of gene: IL37: Changed phenotypes: Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
Additional findings_Paediatric v0.241 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Additional findings_Paediatric v0.240 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.239 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Gene: slco2a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.106 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Skeletal dysplasia v0.105 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.104 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8111 SLCO2A1 Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
Mendeliome v0.8110 SLCO2A1 Zornitza Stark Publications for gene: SLCO2A1 were set to
Mendeliome v0.8109 SLCO2A1 Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8108 SLCO2A1 Zornitza Stark edited their review of gene: SLCO2A1: Changed publications: 23509104, 27134495, 33852188, 22331663, 27134495
Mendeliome v0.8108 SLCO2A1 Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495]; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8108 NDUFB11 Zornitza Stark edited their review of gene: NDUFB11: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.93 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Mendeliome v0.8108 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721 to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721; X-linked sideroblastic anaemia
Mendeliome v0.8107 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to 28050600; 27488349; 30423443; 27488349
Mendeliome v0.8106 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: X-linked sideroblastic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.10 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Red cell disorders v0.10 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Red cell disorders v0.10 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from sideroblastic anaemia to X-linked sideroblastic anaemia
Red cell disorders v0.9 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Red cell disorders v0.8 NDUFB11 Zornitza Stark Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.7 NDUFB11 Zornitza Stark Classified gene: NDUFB11 as Green List (high evidence)
Red cell disorders v0.7 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Red cell disorders v0.6 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: X-linked sideroblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3892 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Intellectual disability syndromic and non-syndromic v0.3892 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3892 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Intellectual disability syndromic and non-syndromic v0.3891 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Intellectual disability syndromic and non-syndromic v0.3890 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3889 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.302 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Callosome v0.302 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Callosome v0.302 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Callosome v0.301 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Callosome v0.300 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.299 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168268, 33106617; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1123 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Microcephaly v1.28 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Microcephaly v1.28 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Microcephaly v1.28 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Microcephaly v1.27 PPP2R1A Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence)
Microcephaly v1.27 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence)
Genetic Epilepsy v0.1122 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.81 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Macrocephaly_Megalencephaly v0.81 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.81 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from Mental retardation, autosomal dominant 36 MIM#616362 to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Macrocephaly_Megalencephaly v0.80 PPP2R1A Zornitza Stark Classified gene: PPP2R1A as Green List (high evidence)
Macrocephaly_Megalencephaly v0.80 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Mendeliome v0.8106 PPP2R1A Zornitza Stark changed review comment from: Intellectual disability with variable other features, including CC abnormalities and microcephaly.; to: Intellectual disability with variable other features, including CC abnormalities and microcephaly/macrocephaly.
Macrocephaly_Megalencephaly v0.79 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8106 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Mendeliome v0.8106 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Mendeliome v0.8106 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Mendeliome v0.8105 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Mendeliome v0.8104 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8103 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8103 KIF1B Bryony Thompson Classified gene: KIF1B as Amber List (moderate evidence)
Mendeliome v0.8103 KIF1B Bryony Thompson Gene: kif1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Marked gene: ARHGEF10 as ready
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Classified gene: ARHGEF10 as Amber List (moderate evidence)
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Added comment: Comment on list classification: ClinGen gene-disease clinical validity classification is limited for this gene.
Mendeliome v0.8102 ARHGEF10 Bryony Thompson Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.92 NDUFB11 Kristin Rigbye reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Red cell disorders v0.6 NDUFB11 Kristin Rigbye reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: Anaemia, XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1121 PPP2R1A Elena Savva gene: PPP2R1A was added
gene: PPP2R1A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268
Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362
Mode of pathogenicity for gene: PPP2R1A was set to Other
Review for gene: PPP2R1A was set to GREEN
Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

10/26 patients were reported with epilepsy, interestingly none also presented with macrocephaly (otherwise observed in 38% of the cohort)
Sources: Literature
Microcephaly v1.26 PPP2R1A Elena Savva gene: PPP2R1A was added
gene: PPP2R1A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268
Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362
Mode of pathogenicity for gene: PPP2R1A was set to Other
Review for gene: PPP2R1A was set to GREEN
gene: PPP2R1A was marked as current diagnostic
Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense.
Sources: Literature
Macrocephaly_Megalencephaly v0.79 PPP2R1A Elena Savva gene: PPP2R1A was added
gene: PPP2R1A was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268
Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362
Mode of pathogenicity for gene: PPP2R1A was set to Other
Review for gene: PPP2R1A was set to GREEN
Added comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense.
Sources: Literature
Mendeliome v0.8100 PPP2R1A Elena Savva reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26168268, 33106617; Phenotypes: Mental retardation, autosomal dominant 36 MIM#616362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Ciliopathies v0.289 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Ciliopathies v0.289 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Ciliopathies v0.289 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Meckel syndrome 7, MIM# 267010
Ciliopathies v0.288 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Ciliopathies v0.287 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.286 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755, 18371931; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540, Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Renal Ciliopathies and Nephronophthisis v0.152 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Renal Ciliopathies and Nephronophthisis v0.151 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.150 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.636 CLPB Zornitza Stark Marked gene: CLPB as ready
Mitochondrial disease v0.636 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mitochondrial disease v0.636 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Mitochondrial disease v0.635 CLPB Zornitza Stark Publications for gene: CLPB were set to
Mitochondrial disease v0.634 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.633 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.66 CLPB Zornitza Stark Marked gene: CLPB as ready
Phagocyte Defects v0.66 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Phagocyte Defects v0.66 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Phagocyte Defects v0.65 CLPB Zornitza Stark Publications for gene: CLPB were set to
Phagocyte Defects v0.64 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.63 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8100 CLPB Zornitza Stark Marked gene: CLPB as ready
Mendeliome v0.8100 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mendeliome v0.8100 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Intellectual disability syndromic and non-syndromic v0.3889 CLPB Zornitza Stark Marked gene: CLPB as ready
Intellectual disability syndromic and non-syndromic v0.3889 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mendeliome v0.8099 CLPB Zornitza Stark Publications for gene: CLPB were set to
Mendeliome v0.8098 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.8097 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3889 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Intellectual disability syndromic and non-syndromic v0.3888 CLPB Zornitza Stark Publications for gene: CLPB were set to
Intellectual disability syndromic and non-syndromic v0.3887 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3886 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.85 SYK Zornitza Stark Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Disorders of immune dysregulation v0.84 SYK Zornitza Stark reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8097 SYK Zornitza Stark Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Mendeliome v0.8096 SYK Zornitza Stark reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.286 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Ciliopathies v0.286 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Ciliopathies v0.286 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Ciliopathies v0.285 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Ciliopathies v0.284 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.283 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.68 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Skeletal Ciliopathies v0.68 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.68 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Skeletal Ciliopathies v0.67 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Skeletal Ciliopathies v0.66 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.65 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8096 PON1 Zornitza Stark Marked gene: PON1 as ready
Mendeliome v0.8096 PON1 Zornitza Stark Gene: pon1 has been classified as Red List (Low Evidence).
Mendeliome v0.8096 PON1 Zornitza Stark Phenotypes for gene: PON1 were changed from to {Coronary artery disease, susceptibility to}
Callosome v0.299 ROBO2 Bryony Thompson Tag for review tag was added to gene: ROBO2.
Cataract v0.279 CTDP1 Zornitza Stark Classified gene: CTDP1 as Green List (high evidence)
Cataract v0.279 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Mendeliome v0.8095 PON1 Zornitza Stark Classified gene: PON1 as Red List (low evidence)
Mendeliome v0.8095 PON1 Zornitza Stark Gene: pon1 has been classified as Red List (Low Evidence).
Mendeliome v0.8094 PON1 Zornitza Stark reviewed gene: PON1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Coronary artery disease, susceptibility to}; Mode of inheritance: None
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.18 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Stroke v1.4 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Stroke v1.4 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Stroke v1.4 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Stroke v1.4 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Stroke v1.3 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.40 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.39 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Vascular Malformations_Germline v1.1 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Cerebral vascular malformations v0.18 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Stroke v1.3 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Stroke. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.39 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Marked gene: APPL1 as ready
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Gene: appl1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Publications for gene: APPL1 were set to
Monogenic Diabetes v0.19 APPL1 Bryony Thompson Classified gene: APPL1 as Amber List (moderate evidence)
Monogenic Diabetes v0.19 APPL1 Bryony Thompson Gene: appl1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.18 KLF11 Bryony Thompson Publications for gene: KLF11 were set to
Monogenic Diabetes v0.17 KLF11 Bryony Thompson Classified gene: KLF11 as Amber List (moderate evidence)
Monogenic Diabetes v0.17 KLF11 Bryony Thompson Gene: klf11 has been classified as Amber List (Moderate Evidence).
Repeat Disorders v0.47 CCD Bryony Thompson Classified STR: CCD as Amber List (moderate evidence)
Repeat Disorders v0.47 CCD Bryony Thompson Str: ccd has been classified as Amber List (Moderate Evidence).
Repeat Disorders v0.46 CCD Bryony Thompson STR: CCD was added
STR: CCD was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: CCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CCD were set to 9182765; 33811808; 20560987; 26220009; 25852448
Phenotypes for STR: CCD were set to Cleidocranial dysplasia MIM#119600
Review for STR: CCD was set to AMBER
Added comment: NM_001024630.4(RUNX2):c.231_233[x]
Expected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein.
Only identified 2 reported polyAla repeat expansions in the literature. One family reported with 27 Ala repeats and one case reported with 20 Ala repeats (with supporting in vitro functional assay evidence). Also at least one case reported with expansion of the upstream glutamine repeat.
Sources: Expert list
Repeat Disorders v0.45 Bryony Thompson removed STR:BCCD from the panel
Cholestasis v0.195 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Cholestasis v0.195 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Cholestasis v0.195 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Cholestasis v0.194 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to
Cholestasis v0.193 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.192 ABCB4 Zornitza Stark reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 8666348, 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8094 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Mendeliome v0.8094 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Mendeliome v0.8094 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Mendeliome v0.8093 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to
Mendeliome v0.8092 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8091 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Mendeliome v0.8091 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Mendeliome v0.8091 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.26 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065; 29455859
Phenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia
Mode of pathogenicity for gene: OAS1 was set to Other
Review for gene: OAS1 was set to GREEN
Added comment: PMID 34145065:6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinaemia. PMID 29455859: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.
Sources: Literature
Mendeliome v0.8090 OAS1 Zornitza Stark Publications for gene: OAS1 were set to
Mendeliome v0.8089 OAS1 Zornitza Stark Mode of pathogenicity for gene: OAS1 was changed from to Other
Mendeliome v0.8088 OAS1 Zornitza Stark Mode of inheritance for gene: OAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8087 OAS1 Zornitza Stark reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34145065, 29455859; Phenotypes: Autoinflammatory immunodeficiency, infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.111 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065
Phenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency
Review for gene: OAS1 was set to GREEN
Added comment: 6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia.
Sources: Literature
Cerebral Palsy v0.76 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Cerebral Palsy v0.76 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Cerebral Palsy v0.75 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Cerebral Palsy v0.75 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Cerebral Palsy v0.74 ADAR Zornitza Stark Marked gene: ADAR as ready
Cerebral Palsy v0.74 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Cerebral Palsy v0.74 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 33528536
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010
Review for gene: ADAR was set to GREEN
Added comment: Multiple individuals reported with CP-like phenotype in a cohort study.
Sources: Literature
Cerebral Palsy v0.72 HPDL Zornitza Stark Marked gene: HPDL as ready
Cerebral Palsy v0.72 HPDL Zornitza Stark Gene: hpdl has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.72 HPDL Zornitza Stark Classified gene: HPDL as Amber List (moderate evidence)
Cerebral Palsy v0.72 HPDL Zornitza Stark Gene: hpdl has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.71 HPDL Zornitza Stark gene: HPDL was added
gene: HPDL was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 33634263
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026; Spastic paraplegia 83, autosomal recessive, MIM# 619027
Review for gene: HPDL was set to AMBER
Added comment: Overlapping phenotype, one family reported with cerebral palsy diagnosis and bi-allelic variants in this gene.
Sources: Literature
Cerebral Palsy v0.69 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Cerebral Palsy v0.69 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.69 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978
Cerebral Palsy v0.68 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Cerebral Palsy v0.67 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.66 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911641, 11854319, 24714694; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Repeat Disorders v0.44 CCHS Bryony Thompson Classified STR: CCHS as Green List (high evidence)
Repeat Disorders v0.44 CCHS Bryony Thompson Str: cchs has been classified as Green List (High Evidence).
Repeat Disorders v0.43 CCHS Bryony Thompson STR: CCHS was added
STR: CCHS was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: CCHS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CCHS were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: CCHS were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Review for STR: CCHS was set to GREEN
STR: CCHS was marked as clinically relevant
Added comment: NM_003924​.3:c.721_723[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect.
Normal: 20 GCN (alanine) repeats
Uncertain significance: 21-23 GCN repeats have not been described in CCHS to date.
Later onset: 24 GCN repeats and a subset of individuals with 25 GCN repeats may have a very mild phenotype with delayed onset of the disorder and/or manifestations only when the individual is exposed to respiratory depressants and/or has severe intercurrent pulmonary illness.
Neonatal onset: 26-33 GCN repeats, as well as most with 25 GCN repeats, present in the newborn period
Sources: Expert list
Repeat Disorders v0.42 PHPX Bryony Thompson Marked STR: PHPX as ready
Repeat Disorders v0.42 PHPX Bryony Thompson Str: phpx has been classified as Green List (High Evidence).
Repeat Disorders v0.42 PHPX Bryony Thompson Classified STR: PHPX as Green List (high evidence)
Repeat Disorders v0.42 PHPX Bryony Thompson Str: phpx has been classified as Green List (High Evidence).
Repeat Disorders v0.41 PHPX Bryony Thompson STR: PHPX was added
STR: PHPX was added to Repeat Disorders. Sources: Expert list
Mode of inheritance for STR: PHPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: PHPX were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: PHPX were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Review for STR: PHPX was set to GREEN
STR: PHPX was marked as clinically relevant
Added comment: NM_005634.2:c.700_702[X]
Sufficient evidence for an association with growth hormone deficiency, however limited evidence for intellectual disability. ID and growth hormone deficiency identified in a single family with 26 Ala repeats (11 Ala expansion). 22 Ala repeats (7 Ala expansion) has been identified in two families with hypopituitarism (without ID). Mouse model demonstrates that mechanism of disease is polyAlanine tract leading to a loss of function of the protein,
Sources: Expert list
Cerebral Palsy v0.66 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Cerebral Palsy v0.66 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.66 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Cerebral Palsy v0.65 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Cerebral Palsy v0.64 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.63 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27444738, 24065543; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.63 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Cerebral Palsy v0.63 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.63 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Cerebral Palsy v0.62 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Cerebral Palsy v0.61 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.60 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 24065543, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Marked gene: FREM1 as ready
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Gene: frem1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Classified gene: FREM1 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v1.2 FREM1 Zornitza Stark Gene: frem1 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v1.1 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM1 were set to 32016392
Phenotypes for gene: FREM1 were set to Congenital diaphragmatic hernia
Review for gene: FREM1 was set to AMBER
Added comment: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes.
Sources: Literature
Congenital diaphragmatic hernia v1.0 Zornitza Stark promoted panel to version 1.0
Congenital diaphragmatic hernia v0.96 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital diaphragmatic hernia v0.95 ALG12 Zornitza Stark Classified gene: ALG12 as Amber List (moderate evidence)
Congenital diaphragmatic hernia v0.95 ALG12 Zornitza Stark Gene: alg12 has been classified as Amber List (Moderate Evidence).
Congenital diaphragmatic hernia v0.94 ALG12 Zornitza Stark changed review comment from: Single individual reported with CDH.
Sources: Literature; to: Two individuals reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.94 ALG12 Zornitza Stark edited their review of gene: ALG12: Changed rating: AMBER; Changed phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.94 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA4 were set to 33461977
Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609
Review for gene: SMARCA4 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.93 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 33461977
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM# 608354
Review for gene: RASA1 was set to RED
Added comment: Single individual reported as part of a cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.92 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: PDHA1 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: PDHA1 were set to 33461977
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Review for gene: PDHA1 was set to RED
Added comment: Single individual reported as part of a cohort. Note variants in this gene can cause congenital anomalies.
Sources: Literature
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.91 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCPH1 were set to 33461977
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, MIM# 251200
Review for gene: MCPH1 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.90 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to 33461977
Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Review for gene: FOXP1 was set to RED
Added comment: Single individual reported as part of a CDH cohort.
Sources: Literature
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.89 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 33461977; 27663689
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, MIM# 153400
Review for gene: FOXC2 was set to RED
Added comment: Single individual reported with CDH, some supportive functional data.
Sources: Literature
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Classified gene: FBN1 as Green List (high evidence)
Congenital diaphragmatic hernia v0.88 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.87 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 31829751; 33461977
Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700
Review for gene: FBN1 was set to GREEN
Added comment: CDH is a rare feature of FBN1-associated disease.
Sources: Literature
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark Gene: brca2 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.86 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, MIM# 605724
Review for gene: BRCA2 was set to RED
Added comment: Single affected individual reported, although FA is a multiple congenital anomaly syndrome.
Sources: Literature
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark edited their review of gene: ANKRD11: Changed rating: RED; Changed phenotypes: KBG syndrome, MIM# 148050
Congenital diaphragmatic hernia v0.85 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 33461977
Phenotypes for gene: ANKRD11 were set to KBG syndrome, MIM# 148050
Review for gene: ANKRD11 was set to GREEN
Added comment: Single individual reported.
Sources: Literature
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Congenital diaphragmatic hernia v0.84 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to 33461977
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, MIM# 607143
Review for gene: ALG12 was set to RED
Added comment: Single individual reported with CDH.
Sources: Literature
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Classified gene: ABL1 as Green List (high evidence)
Congenital diaphragmatic hernia v0.83 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.82 ABL1 Zornitza Stark gene: ABL1 was added
gene: ABL1 was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABL1 were set to 33461977; 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MIM# 617602
Review for gene: ABL1 was set to GREEN
Added comment: Congenital diaphragmatic hernia reported in at least 3 individuals.
Sources: Literature
Mendeliome v0.8087 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready
Mendeliome v0.8087 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8087 SLIT3 Zornitza Stark Classified gene: SLIT3 as Amber List (moderate evidence)
Mendeliome v0.8087 SLIT3 Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8086 SLIT3 Zornitza Stark gene: SLIT3 was added
gene: SLIT3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIT3 were set to 33933663
Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia
Review for gene: SLIT3 was set to AMBER
Added comment: Two affected individuals, single family, supportive mouse model.
Sources: Literature
Congenital diaphragmatic hernia v0.81 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready