| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.496 | ABL1 | Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602 to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602; Human ABL1 Deficiency Syndrome (HADS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.495 | ABL1 | Zornitza Stark Publications for gene: ABL1 were set to 33461977; 28288113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.494 | ABL1 | Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.493 | ABL1 |
Zornitza Stark changed review comment from: New recessive gene-disease association - 3 consanguineous families reported. PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1. PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1) Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; to: New recessive gene-disease association - 3 consanguineous families reported. AMBER for this association and MOI. PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1. PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1) Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype |
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| Fetal anomalies v1.493 | ABL1 |
Zornitza Stark edited their review of gene: ABL1: Added comment: New recessive gene-disease association - 3 consanguineous families reported. PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1. PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1) Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; Changed publications: 33461977, 28288113, 39155385, 38743093; Changed phenotypes: Congenital heart defects and skeletal malformations syndrome, MIM# 617602, Human ABL1 Deficiency Syndrome (HADS); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Fetal anomalies v0.769 | ABL1 | Zornitza Stark Marked gene: ABL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.769 | ABL1 | Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.769 | ABL1 | Zornitza Stark Publications for gene: ABL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.768 | ABL1 | Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.767 | ABL1 | Zornitza Stark Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.767 | ABL1 | Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ABL1 |
Zornitza Stark gene: ABL1 was added gene: ABL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602 |
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