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Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.29 CEP295 Zornitza Stark Marked gene: CEP295 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.29 CEP295 Zornitza Stark Gene: cep295 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.29 CEP295 Chirag Patel Classified gene: CEP295 as Green List (high evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.29 CEP295 Chirag Patel Gene: cep295 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.28 CEP295 Chirag Patel gene: CEP295 was added
gene: CEP295 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Literature
Mode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP295 were set to PMID: 38154379
Phenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767
Review for gene: CEP295 was set to GREEN
gene: CEP295 was marked as current diagnostic
Added comment: 4 children from 2 unrelated families with Seckel-like syndrome - severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes. WES identified biallelic pathogenic variants in CEP295 gene (p(Q544∗) and p(R1520∗); p(R55Efs∗49) and p(P562L)).

Patient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying mechanisms. Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Loss of CEP295 caused extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts.
Sources: Literature
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.27 CRIPT Zornitza Stark Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies (MIM#615789) to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.26 CRIPT Zornitza Stark Publications for gene: CRIPT were set to 24389050; 27250922
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.25 CRIPT Zornitza Stark Classified gene: CRIPT as Green List (high evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.25 CRIPT Zornitza Stark Gene: cript has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.24 CRIPT Karina Sandoval reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.24 CRIPT Suliman Khan reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36630262; Phenotypes: Short stature with microcephaly and distinctive facies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.24 Zornitza Stark List of related panels changed from Slender long bone; HP:0003100 to Slender long bone; HP:0003100; Microcephalic primordial dwarfism; MONDO:0017950
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.23 Zornitza Stark HPO terms changed from to Slender long bone, HP:0003100
List of related panels changed from to Slender long bone; HP:0003100
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.22 PRIM1 Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.21 PRIM1 Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.21 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.21 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.21 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from to Seckel syndrome 5, MIM# 613823; MONDO:0013443
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.20 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.19 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131973; Phenotypes: Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.19 CRIPT Zornitza Stark Marked gene: CRIPT as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.19 CRIPT Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.19 CRIPT Zornitza Stark Phenotypes for gene: CRIPT were changed from SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES to Short stature with microcephaly and distinctive facies (MIM#615789)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.18 CRIPT Zornitza Stark Classified gene: CRIPT as Amber List (moderate evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.18 CRIPT Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.17 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.17 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.17 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3-M syndrome 2 612921 to 3-M syndrome 2, MIM #612921
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.16 OBSL1 Zornitza Stark Publications for gene: OBSL1 were set to
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 OBSL1 Zornitza Stark reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 COG4 Zornitza Stark Marked gene: COG4 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 COG4 Zornitza Stark Classified gene: COG4 as Green List (high evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.14 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review
Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COG4 were set to 30290151
Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM:618150; Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Mode of pathogenicity for gene: COG4 was set to Other
Review for gene: COG4 was set to GREEN
Added comment: 14 individuals reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like). All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). GoF suggested.

Please note bi-allelic variants cause CDG.
Sources: Expert Review
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Tag deep intronic tag was added to gene: PRIM1.
Tag founder tag was added to gene: PRIM1.
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant. Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant. Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Marked gene: PRIM1 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.13 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.12 PRIM1 Zornitza Stark gene: PRIM1 was added
gene: PRIM1 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Literature
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to AMBER
Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant. Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.11 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.11 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.11 TRAIP Zornitza Stark Phenotypes for gene: TRAIP were changed from to Seckel syndrome 9, MIM# 616777
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.10 TRAIP Zornitza Stark Publications for gene: TRAIP were set to
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 TRAIP Zornitza Stark reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 PCNT Zornitza Stark Marked gene: PCNT as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.9 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.8 PCNT Zornitza Stark Publications for gene: PCNT were set to
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 PCNT Zornitza Stark reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Classified gene: LARP7 as Green List (high evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.6 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARP7 were set to 22865833; 21937992; 30006060; 33569879
Phenotypes for gene: LARP7 were set to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Review for gene: LARP7 was set to GREEN
Added comment: Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Five unrelated families reported.
Sources: Expert Review
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.5 CRIPT Ain Roesley reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: None; Publications: 24389050, 27250922; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.5 CENPE Seb Lunke Marked gene: CENPE as ready
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.5 CENPE Seb Lunke Gene: cenpe has been classified as Red List (Low Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.5 CENPE Seb Lunke Phenotypes for gene: CENPE were changed from to Microcephaly 13, primary, autosomal recessive (MIM#616051)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.4 CENPE Seb Lunke Publications for gene: CENPE were set to
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.3 CENPE Seb Lunke Classified gene: CENPE as Red List (low evidence)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.3 CENPE Seb Lunke Gene: cenpe has been classified as Red List (Low Evidence).
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.2 CENPE Ain Roesley reviewed gene: CENPE: Rating: RED; Mode of pathogenicity: None; Publications: 24748105, 30086807; Phenotypes: Microcephaly 13, primary, autosomal recessive (MIM#616051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.1 Tiong Tan Panel status changed from internal to public
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 CDKN1C Tiong Tan gene: CDKN1C was added
gene: CDKN1C was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to IMAGE syndrome 614732
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 POLE Tiong Tan gene: POLE was added
gene: POLE was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to PMID: 30503519
Phenotypes for gene: POLE were set to INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 XRCC4 Tiong Tan gene: XRCC4 was added
gene: XRCC4 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to PMID: 25839420; 25728776
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 CRIPT Tiong Tan gene: CRIPT was added
gene: CRIPT was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to 24389050; 27250922
Phenotypes for gene: CRIPT were set to SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 CENPE Tiong Tan gene: CENPE was added
gene: CENPE was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CENPE was set to BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 TRAIP Tiong Tan gene: TRAIP was added
gene: TRAIP was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 DNA2 Tiong Tan gene: DNA2 was added
gene: DNA2 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
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, MIM#615807
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 CEP152 Tiong Tan gene: CEP152 was added
gene: CEP152 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 RBBP8 Tiong Tan gene: RBBP8 was added
gene: RBBP8 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 ATR Tiong Tan gene: ATR was added
gene: ATR was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 PCNT Tiong Tan gene: PCNT was added
gene: PCNT was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 RNU4ATAC Tiong Tan gene: RNU4ATAC was added
gene: RNU4ATAC was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 TBCE Tiong Tan gene: TBCE was added
gene: TBCE was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome, type 1 244460.; Hypoparathyroidism-retardation-dysmorphism syndrome 241410; Kenny-Caffey syndrome, type 1 244460
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 FAM111A Tiong Tan gene: FAM111A was added
gene: FAM111A was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 CUL7 Tiong Tan gene: CUL7 was added
gene: CUL7 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1 273750
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 OBSL1 Tiong Tan gene: OBSL1 was added
gene: OBSL1 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2 612921
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 CCDC8 Tiong Tan gene: CCDC8 was added
gene: CCDC8 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services
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 3-M syndrome 3, 614205
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 Tiong Tan Added panel Microcephalic Primordial Dwarfism and Slender bone dysplasias