| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| IUGR and IGF abnormalities v1.69 | IGF1 | Arina Puzriakova Phenotypes for gene: IGF1 were changed from Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; Insulin-Like Growth Factor I Deficiency to Insulin-like growth factor I deficiency, OMIM:608747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.68 | LIG4 | Arina Puzriakova Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, OMIM:606593; microcephaly, growth retardation, immunodeficiency, developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.67 | ORC1 | Arina Puzriakova Phenotypes for gene: ORC1 were changed from microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia to Meier-Gorlin syndrome 1, OMIM:224690; microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.66 | ORC4 | Arina Puzriakova Phenotypes for gene: ORC4 were changed from micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to Meier-Gorlin syndrome 2, OMIM:613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.65 | ORC6 | Arina Puzriakova Phenotypes for gene: ORC6 were changed from micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to Meier-Gorlin syndrome 3, OMIM:613803; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.64 | PCNT | Arina Puzriakova Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.63 | XRCC4 | Arina Puzriakova Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541; Short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.62 | CDC6 | Arina Puzriakova Phenotypes for gene: CDC6 were changed from patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.61 | CDT1 | Arina Puzriakova Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia to Meier-Gorlin syndrome 4, OMIM:613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.60 | BLM | Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 to Bloom syndrome, OMIM:210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.58 | ISCA-37429-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.57 | ISCA-37420-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.56 | ISCA-37420-Loss |
Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field: PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 |
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| IUGR and IGF abnormalities v1.56 | IGFALS | Arina Puzriakova Phenotypes for gene: IGFALS were changed from Short stature; delayed puberty; very low IGF-I levels to Acid-labile subunit, deficiency of, OMIM:615961; Short stature; Delayed puberty; Very low IGF-I levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.55 | SHOX | Arina Puzriakova Phenotypes for gene: SHOX were changed from to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.54 | ROR2 | Arina Puzriakova Phenotypes for gene: ROR2 were changed from Robinow to Robinow syndrome, autosomal recessive, OMIM:268310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.53 | HESX1 | Arina Puzriakova Phenotypes for gene: HESX1 were changed from Septo-optic dysplasia; variable involvement of pituitary hormones to Growth hormone deficiency with pituitary anomalies, OMIM:182230; Pituitary hormone deficiency, combined, 5, OMIM:182230; Septooptic dysplasia, OMIM:182230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.52 | IGF1R | Arina Puzriakova Phenotypes for gene: IGF1R were changed from Insulin‐likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance to Insulin-like growth factor I, resistance to, OMIM:270450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.51 | ISCA-37429-Loss | Arina Puzriakova commented on Region: ISCA-37429-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.51 | ISCA-37420-Loss | Arina Puzriakova commented on Region: ISCA-37420-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.51 | ISCA-37397-Loss | Arina Puzriakova commented on Region: ISCA-37397-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.51 | ISCA-37406-Loss | Ivone Leong commented on Region: ISCA-37406-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.51 | ISCA-37392-Loss | Arina Puzriakova commented on Region: ISCA-37392-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.51 | ISCA-37392-Loss |
Arina Puzriakova GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172. Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60. |
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| IUGR and IGF abnormalities v1.51 | ISCA-37429-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.51 | ISCA-37397-Loss |
Arina Puzriakova GRCh38 position for ISCA-37397-Loss was changed from 21443089-23306926 to 21562828-23306924. Required Overlap Percentage for ISCA-37397-Loss was changed from 80 to 60. |
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| IUGR and IGF abnormalities v1.51 | ISCA-37420-Loss |
Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514. Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60. |
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| IUGR and IGF abnormalities v1.51 | ISCA-37406-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.50 | POU1F1 | Arina Puzriakova Phenotypes for gene: POU1F1 were changed from GH, PRL deficiencies; variable degree of TSH deficiency to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038; Variable degree of TSH deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.49 | RNPC3 | Ivone Leong Classified gene: RNPC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.49 | RNPC3 | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. PMID:33650182 a third case reported with growth failure and ID. There is now enough evidence to support a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.49 | RNPC3 | Ivone Leong Gene: rnpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.48 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.47 | RNPC3 | Ivone Leong Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.46 | PAPPA2 | Ivone Leong Added comment: Comment on publications: Added new publication PMID:33875846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.46 | PAPPA2 | Ivone Leong Publications for gene: PAPPA2 were set to 26902202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.45 | KANSL1 | Ivone Leong Classified gene: KANSL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.45 | KANSL1 | Ivone Leong Added comment: Comment on list classification: New gene added by Andžela Lazdāne (Children's Clinical University Hospital of Latvia). This gene is assiociated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene has been given a Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.45 | KANSL1 | Ivone Leong Gene: kansl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.44 | KANSL1 | Ivone Leong Added comment: Comment on publications: PMID: 26306646. Additional 12 cases with de novo variants in KANSL1 causing disease, which further indicates that haploinsufficiency for KANSL1 is sufficient to cause the core phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.44 | KANSL1 | Ivone Leong Publications for gene: KANSL1 were set to 22544363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.43 | KANSL1 | Ivone Leong Publications for gene: KANSL1 were set to PMID: 22544363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.42 | KANSL1 | Ivone Leong Phenotypes for gene: KANSL1 were changed from Koolen-De Vries syndrome; Facial features; Delayed psychomotor development; Intellectual disability to Koolen-De Vries syndrome, OMIM:610443; Facial features; Delayed psychomotor development; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.41 | SHOX | Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.41 | PAPPA2 | Dmitrijs Rots reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: Short stature, dysmorphism, mild microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.41 | ARCN1 | Ivone Leong Phenotypes for gene: ARCN1 were changed from Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.40 | ARCN1 | Ivone Leong Publications for gene: ARCN1 were set to PMID: 27476655; PMID: 33154040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.39 | ARCN1 | Ivone Leong Classified gene: ARCN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.39 | ARCN1 | Ivone Leong Added comment: Comment on list classification: New gene added by Andžela Lazdāne (Children's Clinical University Hospital of Latvia). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). After consulting the Genomics England Clinical Team it was thought that this gene should be Amber on this panel for now as the skeletal phenotype in association with short stature makes the gene better suited to a skeletal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.39 | ARCN1 | Ivone Leong Gene: arcn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.38 | STAT5B | Ivone Leong Publications for gene: STAT5B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.37 | STAT5B | Ivone Leong Added comment: Comment on mode of inheritance: MOI has been updated from Biallelic to Both monoallelic and biallelic. PMID: 29844444 reported 11 patients from 3 unrelated families with GH insensitivity. Most patients presented in the first or second decades of life with short stature (down to -5.3 SD), delayed bone age, and delayed puberty associated with decreased IGF1 levels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.37 | STAT5B | Ivone Leong Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.36 | KMT2D | Arina Puzriakova Phenotypes for gene: KMT2D were changed from Kabuki to Kabuki syndrome 1, OMIM:147920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.35 | ARCN1 | Andžela Lazdāne edited their review of gene: ARCN1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.35 | ARCN1 |
Andžela Lazdāne gene: ARCN1 was added gene: ARCN1 was added to IUGR and IGF abnormalities. Sources: Literature Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARCN1 were set to PMID: 27476655; PMID: 33154040 Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Penetrance for gene: ARCN1 were set to Complete Review for gene: ARCN1 was set to AMBER Added comment: Pathogenic loss-of-function variants in ARCN1 represent an emerging disorder of developmental delay and skeletal manifestations. Phenotype corresponds to IUGR such as craniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic shortening, cleft palate, microcephalic dwarfism and mild developmental delay. Sources: Literature |
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| IUGR and IGF abnormalities v1.35 | KANSL1 |
Andžela Lazdāne gene: KANSL1 was added gene: KANSL1 was added to IUGR and IGF abnormalities. Sources: Expert list,Literature Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to PMID: 22544363 Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome; Facial features; Delayed psychomotor development; Intellectual disability Penetrance for gene: KANSL1 were set to Complete Review for gene: KANSL1 was set to GREEN Added comment: Region: ISCA-37420-Loss wich is in IUGR and IGF abnormalities panel includes KANSL1 gene. Based on the literature de novo heterozygous truncating mutations in the KANSL1 gene causes symptoms like characteristic facial features, including broad forehead, long face, developmental delay, cleft lip/palate and tubular nose with bulbous nasal tip may manifest also in IUGR. Sources: Expert list, Literature |
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| IUGR and IGF abnormalities v1.35 | SMC1A | Arina Puzriakova Phenotypes for gene: SMC1A were changed from Cornelia De Lange to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.34 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked, 312000; Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.33 | RNPC3 | Ivone Leong Classified gene: RNPC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.33 | RNPC3 |
Ivone Leong Added comment: Comment on list classification: This gene has been promoted from Red to Amber based on the evidence provided below. Comments copied from Growth failure in early childhood (Version 1.13): "Comment on list classification: Based on the available evidence and expert review, this gene has been promoted from Red to Amber. This gene is associated with a relevant phenotype on OMIM. The family described in PMIDs 24480542 and 29866761 are the same. The 3 sisters in this family had GH deficiency only. PMID: 32462814 had GH deficiency and almost undetectable levels of prolactin as well. Ivone Leong (Genomics England Curator), 15 Oct 2020" "Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present. Zornitza Stark (Australian Genomics), 5 Oct 2020" |
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| IUGR and IGF abnormalities v1.33 | RNPC3 | Ivone Leong Gene: rnpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.32 | RNPC3 | Ivone Leong Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.31 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.30 | SHOX | Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.30 | SHOX | Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Classified gene: AMMECR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Added comment: Comment on list classification: New gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene has been given a green status based on reviewer provided evidence, which supports a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Gene: ammecr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.28 | AMMECR1 | Ivone Leong Phenotypes for gene: AMMECR1 were changed from Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.27 | AMMECR1 | Ivone Leong Publications for gene: AMMECR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.26 | AMMECR1 |
Julia Baptista changed review comment from: Basel-Vanagaite et al reported a boy with short stature (−3SD), low weight(−4SD), normal OFC (+1SD) and dysmorphic features (PMID: 28089922). Maternal half-brothers reported by Andreoletti et al. (2017) also had short stature (below the 0.4th centile) and midface hypoplasia. Short stature was also reported by Moyses-Oliveira et al in patients with loss-of-function AMMECR1 alleles due to nonsense variants, gene deletion and a translocation.; to: Basel-Vanagaite et al reported a boy with short stature (−3SD), low weight(−4SD), normal OFC (+1SD) and dysmorphic features (PMID: 28089922). Maternal half-brothers reported by Andreoletti et al. (2017) also had short stature (below the 0.4th centile) and midface hypoplasia. Short stature was also reported by Moyses-Oliveira et al in patients with loss-of-function AMMECR1 alleles due to nonsense variants, gene deletion and a translocation. (PMID: 29193635) |
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| IUGR and IGF abnormalities v1.26 | AMMECR1 |
Julia Baptista edited their review of gene: AMMECR1: Added comment: Basel-Vanagaite et al reported a boy with short stature (−3SD), low weight(−4SD), normal OFC (+1SD) and dysmorphic features (PMID: 28089922). Maternal half-brothers reported by Andreoletti et al. (2017) also had short stature (below the 0.4th centile) and midface hypoplasia. Short stature was also reported by Moyses-Oliveira et al in patients with loss-of-function AMMECR1 alleles due to nonsense variants, gene deletion and a translocation.; Changed publications: PMID: 29193635, 28089922, 27811305; Changed phenotypes: Short stature, midface hypoplasia, hearing impairment, elliptocytosis, nephrocalcinosis |
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| IUGR and IGF abnormalities v1.26 | AMMECR1 |
Julia Baptista gene: AMMECR1 was added gene: AMMECR1 was added to IUGR and IGF abnormalities. Sources: Literature Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMMECR1 were set to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Review for gene: AMMECR1 was set to GREEN Added comment: Sources: Literature |
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| IUGR and IGF abnormalities v1.25 | ISCA-37397-Loss |
Louise Daugherty Region: ISCA-37397-Loss was added Region: ISCA-37397-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902 Phenotypes for Region: ISCA-37397-Loss were set to diaphragmatic hernia; mild skeletal abnormalities; uterine didelphys; 611867; DiGeorge syndrome (DGS); clinodactyly; velocardiofacial syndrome; ADHD; Goldenhar syndrome; prematurity; developmental delay; micropephaly; cardiovascular defects; Seizures; global developmental delay; language delay; prenatal and postnatal growth delay; Hyptonia |
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| IUGR and IGF abnormalities v1.25 | ISCA-37406-Loss |
Louise Daugherty Region: ISCA-37406-Loss was added Region: ISCA-37406-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566 Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543 |
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| IUGR and IGF abnormalities v1.25 | ISCA-37420-Loss |
Louise Daugherty Region: ISCA-37420-Loss was added Region: ISCA-37420-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315 Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 |
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| IUGR and IGF abnormalities v1.25 | ISCA-37392-Loss |
Louise Daugherty Region: ISCA-37392-Loss was added Region: ISCA-37392-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37392-Loss were set to 20301427 Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome |
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| IUGR and IGF abnormalities v1.25 | ISCA-37429-Loss |
Louise Daugherty Region: ISCA-37429-Loss was added Region: ISCA-37429-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome |
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| IUGR and IGF abnormalities | LIG1 | Olivia Niblock reviewed LIG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | FANCM | Ellen McDonagh edited their review of FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | SOX3 | Louise Daugherty commented on SOX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | ERCC6 | Louise Daugherty commented on ERCC6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | RPL10 | Sarah Leigh classified RPL10 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | RPL10 | Sarah Leigh added RPL10 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | RPL10 | Sarah Leigh reviewed RPL10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | MCM5 | Sarah Leigh added MCM5 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | MCM5 | Sarah Leigh reviewed MCM5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | ANKRD11 | Rebecca Foulger commented on ANKRD11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | BLM | Rebecca Foulger commented on BLM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | OBSL1 | Rebecca Foulger commented on OBSL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | CUL7 | Rebecca Foulger commented on CUL7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | CCDC8 | Rebecca Foulger commented on CCDC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | SRCAP | Rebecca Foulger commented on SRCAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | SAMD9 | Helen Brittain marked SAMD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | SAMD9 | Helen Brittain classified SAMD9 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | SAMD9 | Helen Brittain added SAMD9 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | SAMD9 | Helen Brittain reviewed SAMD9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | FANCM | Rebecca Foulger classified FANCM as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | FANCM | Rebecca Foulger commented on FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | FANCM | Rebecca Foulger commented on FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | RNU4ATAC | Ellen McDonagh commented on RNU4ATAC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | H19 | Ellen McDonagh commented on H19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities | IGF2 | Ellen McDonagh commented on IGF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||