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| Structural eye disease v3.72 | GDF3 |
Achchuthan Shanmugasundram Tag Q4_23_demote_amber was removed from gene: GDF3. Tag Q4_23_expert_review was removed from gene: GDF3. |
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| Structural eye disease v3.57 | GDF3 |
Sarah Leigh Tag Q4_23_demote_amber tag was added to gene: GDF3. Tag Q4_23_expert_review tag was added to gene: GDF3. |
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| Structural eye disease v3.57 | GDF3 |
Sarah Leigh changed review comment from: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below. NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) • rs140926412 • https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease • PMID: 19864492; 29260090 NM_020634.3(GDF3):c.584G>A (p.Arg195Gln) • rs146973734 • https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) • rs387906946 • https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia and coloboma NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) • rs387906945 • https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease • PMID: 19864492 three cases: o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance. o 1 patient (2.2) unaffected father of 2.1 o 1 patient with Bilateral iris coloboma NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) • rs566697767 • https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 24281366 o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel o 1 patient unaffected father of the patient above As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro); leading to the assertion that the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers of these variants in the cited publications.; to: A total of five GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below. NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) • rs140926412 • https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease • PMID: 19864492; 29260090 NM_020634.3(GDF3):c.584G>A (p.Arg195Gln) • rs146973734 • https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) • rs387906946 • https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia and coloboma NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) • rs387906945 • https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease • PMID: 19864492 three cases: o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance. o 1 patient (2.2) unaffected father of 2.1 o 1 patient with Bilateral iris coloboma NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) • rs566697767 • https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 24281366 o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel o 1 patient unaffected father of the patient above As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro); leading to the assertion that the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers of these variants in the cited publications. |
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| Structural eye disease v3.57 | GDF3 |
Sarah Leigh changed review comment from: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below. NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) • rs140926412 • https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease • PMID: 19864492; 29260090 NM_020634.3(GDF3):c.584G>A (p.Arg195Gln) • rs146973734 • https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) • rs387906946 • https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia and coloboma NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) • rs387906945 • https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease • PMID: 19864492 three cases: o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance. o 1 patient (2.2) unaffected father of 2.1 o 1 patient with Bilateral iris coloboma NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) • rs566697767 • https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 24281366 o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel o 1 patient unaffected father of the patient above As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro), leading to the assertion the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers in these publications.; to: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below. NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) • rs140926412 • https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease • PMID: 19864492; 29260090 NM_020634.3(GDF3):c.584G>A (p.Arg195Gln) • rs146973734 • https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) • rs387906946 • https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia and coloboma NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) • rs387906945 • https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease • PMID: 19864492 three cases: o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance. o 1 patient (2.2) unaffected father of 2.1 o 1 patient with Bilateral iris coloboma NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) • rs566697767 • https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 24281366 o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel o 1 patient unaffected father of the patient above As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro); leading to the assertion that the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers of these variants in the cited publications. |
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| Structural eye disease v3.57 | GDF3 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.57 | GDF3 |
Sarah Leigh edited their review of gene: GDF3: Added comment: A total of GDF3 variants have been reported in PMID: 19864492, 24281366 & 29260090 in patients with ocular phenotypes. It has been noted, that some of the variants have been found in gnomAD v4.0.0 at a high frequency and in unaffected relatives of the patients. A summary of the allele frequencies and other information is presented below. NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) • rs140926412 • https://gnomad.broadinstitute.org/variant/12-7690177-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 4046/1614130 = allele frequency of 0.002507 which could be considered as scoring BS1 depending on the frequency of the disease • PMID: 19864492; 29260090 NM_020634.3(GDF3):c.584G>A (p.Arg195Gln) • rs146973734 • https://gnomad.broadinstitute.org/variant/12-7690389-C-T?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 239/1614062 = allele frequency 0.0001481 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) • rs387906946 • https://gnomad.broadinstitute.org/variant/12-7690153-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 156/1614148 = allele frequency 0.00009665 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 19864492 one patient with Unilateral microphthalmia and coloboma NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) • rs387906945 • https://gnomad.broadinstitute.org/variant/12-7690059-A-G?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 349/1614130 = allele frequency 0.0002162 which could be considered slightly too frequent to score PM2 depending on the frequency of the disease • PMID: 19864492 three cases: o 1 patient (2.1) with Unilateral microphthalmia and incomplete penetrance. o 1 patient (2.2) unaffected father of 2.1 o 1 patient with Bilateral iris coloboma NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) • rs566697767 • https://gnomad.broadinstitute.org/variant/12-7689999-G-A?dataset=gnomad_r4 • gnomAD v4.0.0 exomes & genomes: 77/1613890 = allele frequency 0.00004771 which could be considered as scoring PM2 depending on the frequency of the disease • PMID: 24281366 o 1 patient 11 with microphthalmia and coloboma, also compound heterozygote for two missense mutations in CYP1B1, c.1103G>A, p.(Arg368His), and c.685G>A, p.(Glu229Lys), which is associated with ocular phenotypes (OMIM: 231300 & OMIM: 617315) and is Green on Structural eye disease panel o 1 patient unaffected father of the patient above As a result of this analysis, it seems unlikely that c.796C>T (p.Arg266Cys) is disease causing, due to its high frequency in gnomAD v4.0.0. The contribution of c.974C>T (p.Pro325Leu) to the disease is unknown, as it has only been seen in a patient who was also compound heterozygous for CYP1B1 variants. Plus, c.974C>T (p.Pro325Leu) was also seen in the unaffected father of the patient, as was c.914T>C (p.Leu305Pro), leading to the assertion the effects of GDF3 variants of is subject to reduced penetrance. The variants c.584G>A (p.Arg195Gln) and c.820C>T (p.Arg274Trp) were found at low frequency in gnomAD v4.0.0. and there were no reports of unaffected carriers in these publications.; Changed rating: AMBER |
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| Structural eye disease v3.57 | GDF3 | Sarah Leigh Publications for gene: GDF3 were set to 19864492; 29260090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.56 | GDF3 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.56 | GDF3 |
Sarah Leigh Tag Q4_23_promote_green was removed from gene: GDF3. Tag Q4_23_NHS_review was removed from gene: GDF3. |
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| Structural eye disease v3.56 | GDF3 |
Zornitza Stark changed review comment from: p.Arg266Cys is present in >4,000 individuals in gnomad v4, casting serious doubts about pathogenicity.; to: p.Arg266Cys is present in >4,000 individuals in gnomad v4, casting serious doubts about pathogenicity. p.Arg195Gln is present in 239 individuals which is also very high even for 'variable penetrance'. p.Arg274Trp is present in 156. p.Leu305Pro in 349. Also classified 'benign' in ClinVar. p.Pro325Leu in 77. |
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| Structural eye disease v3.56 | GDF3 | Zornitza Stark reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.43 | GDF3 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: GDF3. Tag Q4_23_NHS_review tag was added to gene: GDF3. |
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| Structural eye disease v3.43 | GDF3 | Sarah Leigh Classified gene: GDF3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.43 | GDF3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.43 | GDF3 | Sarah Leigh Gene: gdf3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.42 | GDF3 | Sarah Leigh reviewed gene: GDF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.42 | GDF3 | Sarah Leigh Phenotypes for gene: GDF3 were changed from Klippel-Feil Syndrome3, 613702; Klippel-Feil syndrome 3, autosomal dominant, 613702; Microphthalmia with coloboma 6, 613703; Microphthalmia, isolated 7, 613704 to Klippel-Feil syndrome 3, autosomal dominant, OMIM:613702; Klippel-Feil syndrome 3, autosomal dominant, MONDO:0013375; Microphthalmia with coloboma 6, OMIM:613703; microphthalmia, isolated, with coloboma 6, MONDO:0013376; Microphthalmia, isolated 7, OMIM:613704; isolated microphthalmia 7, MONDO:0013377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.41 | GDF3 | Sarah Leigh Publications for gene: GDF3 were set to 19864492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | GDF3 | Hannah Knight reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29260090; Phenotypes: Klippel-Feil Syndrome 3, Klippel-Feil syndrome 3, autosomal dominant, Microphthalmia with coloboma 6, Microphthalmia, isolated; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | GDF6 | Nicola Ragge reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), Microphthalmia with coloboma6, digenic (with GDF3), Microphthalmia, isolated 4 , 118100 , 613703 , 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | GDF3 | Nicola Ragge reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: other - please provide details in the comments; Publications: 19864492; Phenotypes: Klippel-Feil Syndrome3, Microphthalmia with coloboma 6, Microphthalmia, isolated 7, 613702, 613703, 613704; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | GDF3 | Ivone Leong commented on gene: GDF3: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | GDF3 |
Ivone Leong Source Expert Review Amber was added to GDF3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.38 | GDF6 | Ivone Leong reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100, Microphthalmia with coloboma 6, digenic (with GDF3), 613703, Microphthalmia, isolated 4, 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | GDF3 | Ivone Leong reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19864492; Phenotypes: Klippel-Feil Syndrome3, 613702, Microphthalmia with coloboma 6, 613703, Microphthalmia, isolated 7, 613704; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | GDF6 |
Ivone Leong Source NHS GMS was added to GDF6. Source Expert Review Green was added to GDF6. Mode of inheritance for gene GDF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments Added phenotypes Microphthalmia, isolated 4, 613094; KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100; Microphthalmia with coloboma 6, digenic (with GDF3), 613703 for gene: GDF6 Publications for gene GDF6 were changed from to 17236135, 20494911, 25457163, 24033328, 21070663 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Structural eye disease v0.15 | GDF3 |
Ivone Leong Source NHS GMS was added to GDF3. Mode of inheritance for gene GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GDF3 was changed from to other - please provide details in the comments Added phenotypes Klippel-Feil Syndrome3, 613702; Microphthalmia with coloboma 6, 613703; Microphthalmia, isolated 7, 613704 for gene: GDF3 Publications for gene GDF3 were changed from to 19864492 |
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| Structural eye disease v0.2 | GDF3 |
Ellen McDonagh gene: GDF3 was added gene: GDF3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GDF3 was set to Phenotypes for gene: GDF3 were set to Klippel-Feil syndrome 3, autosomal dominant, 613702 |
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